Those of you who wish doctors would take the time to listen should take the time to read this article. Dr. Huls is training to be a pathologist. Pathologists do not talk to patients, nor do they examine them. They look at dead bodies, tissue, microscopic samples, lab results and information acquired by other physicians.
Impressive work by Dr. Huls. But 7 pages to describe the diagnosis? Nothing else to do in that residency?
3
Great story. However, it’s unclear to me how Dr Huls obtained access to this patient’s medical records. Unless he was specifically involved in her care, HIPAA forbids this.
After doing battle with insurance companies over many years, I have come to realize that the insurance company is us. If your CEO walked in one day and said "Joe, I am putting you in charge of making final health care decisions for all our employees", Joe would end up making the same sort of decisions that evil insurance companies make. They merely manage health care costs for employers. For rare diseases and expensive medicines, it is not at all easy to come up with appropriate guidelines. Many of their guidelines are easily found with a google search. In my experience when I request approval for an expensive treatment for a rare condition which does not fall within the guidelines, I have little trouble getting approval once I get through to the medical reviewer and discuss my rationale.
While the drug company sounds like the saint here, it sometimes seems like generous patient assistance programs and prescription discounts are a way to protect unconscionably high prices.
2
Dear New York Times Magazine Editors,
Libraries save lives! It was heartening to see the power of library resources in the Diagnosis article last Sunday. Clearly, Dr. Huls is a "power user" of PubMed, a skill we teach in libraries such as Vanderbilt's Eskind Biomedical Library and at many other great medical libraries in the country. Libraries are partners in medical research, training students, residents, and interns to move from information overload to precise information mining--with sometimes miraculous results.
Valerie Hotchkiss
University Librarian
VANDERBILT UNIVERSITY
6
Why, in this era of artificial intelligence and machine learning (no, they’re not synonymous...) do we not automatically enter symptoms into a system that will come back with diseases that have a high correlation to those symptoms? This should (and will some day) be standard practice. Instead, doctors encountering diseases outside of their everyday experience wander in the wilderness. And we, their patients, wander with them.
8
I first experienced hives and other debilitating symptoms in 2002. The hives covered my body and were chronic. I saw a dozen MD's, including the entire dermatology staff at UCI Med, but received no diagnosis - only prescriptions for ever-increasing doses of prednisone. Finally, in 2008, the Mayo Clinic diagnosed Schnitzler's syndrome and non-Hodgkin's lymphoma. According to studies, the time between the onset of symptoms and my diagnosis is typical.
Mayo prescribed daily injections of Kineret. Anthem denied coverage because Kineret was FDA approved for rheumatoid arthritis, which I didn't have. So I endured six months of chemotherapy at great cost to Anthem. A year later, my IGM count spiked to pre-chemo levels, I tested positive for the rheumatoid factor, and I was finally able to get coverage for Kineret. My symptoms were resolved literally overnight and my IGM count declined steadily until reaching the same level achieved with chemo. If I miss my injections for two days all symptoms return. With Kineret I function normally; without it I'm a zombie.
I battled Anthem every year for pre-authorization for Kineret (now approximately $3,500 for 28 injections). It was covered during my first year on Medicare, but last June they denied coverage. Appeals clearly demonstrating efficacy were fruitless.
Thankfully, SOBI, Kineret's manufacturer, has placed me in their patient assistance program; otherwise I couldn't afford it.
8
Disappointed by the lack of the description of what the disease is itself and the treatment. Poor reporting.
3
Until we have dedicated Doctors like Dr. Jori May & Dr. Forest Huls no patient will die without giving life a chance... Hapts off for the too Drs...
1
Thanks NYT for another excellent article. Timely for myself as I face again another new doctor and lose another diagnosis. I'm now being investigated for Schnitzler and am chasing, out of a decade of frustration, for a diagnosis myself using PubMed.
Dr. Huls is probably a good diagnostician, absence PubMed also. For everyone stating that all that is needed is a database and list of symptoms and signs and lab results, do not forget that it TAKES JUDGEMENT to select the correct signs, symptoms and lab results. Put in a few of this woman's symptoms and you would receive an unmanageable number of results. Put in the wrong ones, you may get the wrong results. This woman had a voluminous electronic medical record and Dr. Huls actually found some relevant information in records stored electronically n historical files.
I am not saying that this could not or should not have been diagnosed sooner, I am saying that diagnosis ain't as easy as a Google or PubMed search. They are an aid, not a be all and end all.
Read Dr. Sanders wonderful book, "Every Patient Tells a Story." Yes, she has a very interesting chPter on electronic information, but she also has a chapter on the lost art of the physical exam--using one's hands. She speaks of practicing medicine solely by testing as not being the ideal. Good doctors use discretion.
Maybe part of what happened to this poor woman is that she had so many tests, consults, etc. that no one doctor took the time or had the vision, and bit of luck, to not lose sight of the forest for the trees.
3
Pub Med. Just one more invaluable resource brought to you by the government.
2
How did Dr. Hauls come upon her case. The article states Dr. May did not know he was involved in the Patient's Care but she found his notes in the record.
Why not name the insurance company that refused treatment?
25
Can someone at a high level in our government please do something to require insurance companies to pay for medications patients need when patients have significant symptoms or their health is endangered? We docs need easily-accessible, non-time-wasting, direct numbers to call on behalf of our patients. As it is, we ask, we are denied, we appeal, we are denied, we appeal again, we are denied...hours of time that could be spent on actual patient care....It's a shameful indictment of the US healthcare "system."
55
The government is only interested in giving tax breaks to these companies so they can make more money. Our government is pay to play -- making the rich, richer -- it's called corruption and it's destroying our country.
3
Entering the following into Pub Med search: elevated IgM fever rash bone pain
gives Schntzier syndrome as the number one hit.
This is my first time use of Pub Med and so elapsed time was a bit longer
than for an experienced user. elapsed time was 5 minutes.
don't all doctors know how to use this valuable resource?
30
Many colleagues of my age bracket (I'm 72 and was in private solo dermatology practice for 40+ years) in all fields have never heard of it.
If you were trained truly well, at a top notch medical school, and had/have the innate fierce drive to learn, you became aware of it very early on. I remember having multiple 3.5 inch discs sent every few months to keep it updated. I still remember the precursor to it: the Index Medicus.
Disclaimer: I am a clinical professor of dermatology at U. of Penna. in Philly.
12
My hearty congratulations to Dr Huls. That is a Doctor. That is someone living up to their profession. If only he was my Dad'd doctor. He has renal cancer, but nothing can be done according to his assigned doctor because, well, he's 81, so you know. "You've had a good innings". Dad's accepted it, but the family is finding it real hard. Dr Huls, we need you.
10
With respect and sympathy, the situation you face is very different. Your dad's diagnosis is known, and so is the treatment. There isn't a mystery, there's only a sad limitation to what medicine can do.
7
I suggest that you reach out to RCC specialist, vs the typical oncologist or even one who handles GU cancers. Most of the latter docs see very few RCC patients, and simply cannot keep up with the tremendous chances in this field. For patients who need to learn how to communicate with their erstwhile oncologists, go to www.smartPatients.com and connect with others who can guide patients as to info and access to better care. Speaking as survivor of Stage IV kidney cancer, now nearly 14 years...and I am cured, thanks to good medicine often overlooked or dismissed by other doctors--high dose interleukin.
1
No. It’s only a sad message about the state of medical *practice*. There is *much* more that can be done.
2
My experience in today's medical environment is that most, not all, doctors are not curious. They are too overwhelmed by patients to be curious. I'm a retired scientist. My entire career and beyond is founded on curiosity. Satisfying curiosity is not easy, it takes time, dead-end frustration, and hard work.
The result, however, is as glorious as the rising sun. I've been blessed by that rising sun at midnite, looking at a result for the first time humans have ever seen it. But by noon, it was all over the place. The result exploded into the face of every colleague I met that day and several beyond.
Then came the journal article.......so long. You wished it could have gone as fast as those hallway conversations. Instead it was more like what I've observed in pregnancy. Happy for a while until "you just want it to be over."
Back to MDs, most of whom did not write a dissertation, who have been taught to memorize, not explore, whose curiosity was likely beat down in a classroom that had to move on. They operate by checklist. If not on the screen that separates them from the patient, in their head. They just don't have the time to operate outside of the first standard deviation. Confronted they shotgun you with drugs, hoping one or two would work. If they don't, off to a "specialist" who might be a bit more curious but not much.
I agree that the most likely place to find doctors who have time and liberty to engage curiosity is a teaching hospital.
21
I’d like to make a counter point to the all of the comments about the health insurer not paying for a drug. There are so many people who are prescribed drugs that either don’t need them, ask for them by name because they saw it on TV, take drugs who’s efficacy is in doubt vs placebos, take drugs without clear causation. In no other industry do we so freely approve the purchase of a product that has questionable or no proven effectiveness. The insurance companies are by and large trying to do the right thing for their members, control costs to help keep premiums down for all.
This public perception that the insurance carriers are trying to restrict care to make profits is patently false. Not to mention illegal. It just doesn’t actually happen in real life on even a fraction of the scale most people think it does. There are some bad people doing bad things in some board rooms, sure. But I have worked at 4 different healthcare companies in my lifetime and all of them were focused on providing members the best care possible. Consumerism of drugs and questionable specialty drugs are the real culprits.
I’m a liberal Democrat that believes in universal healthcare. I’m telling you from first hand experience that these companies are focused on getting members the care they need as fast as possible while being prudent stewards of your investments. If they didn’t have the checks and balances they have your premiums would be even higher.
10
This does is not accurate based on experience. Insurance companies routinely turn down claims based on false arguments (e.g., your deductible isn’t through yet, this is out of network, etc.) or on bureaucratic trifles (asking you to do the same thing over and over again) and you need to come back again and again and fight them on different points and sometimes even on the same proven point to get them to fulfill their contractual obligation. That’s why the bills are so impossibly illogically opaque and impossible to decipher, unlike every other industry, so that the user should have a harder time knowing if they are really owed money or not. And you are right, these practices would in fact be illegal in any other industry.
4
My wife went through a year and a half going from specialist to specialist (all covered under medicare, fortunately!). Some didn't think she was sick. Some decided she might be sick, but didn't have any idea of what to do. She finally got referred to a very good specialist who admitted he'd never seen anyone who had her symptoms. But he would try treat her as best he could. And fortunately his treatment has helped.
About fifteen years ago I woke up with a numb thumb. I shook my hand about a bit. But I couldn't get the thumb to wake up. I ended up going to the emergency room just in case it was something serious. Everything seemed okay. But my own doctor ordered a number of other tests (all having to do with my heart), all of which came up negative. So the case was closed.
Recently I had problems in both my hands (numbness, hurting) and I was diagnosed with Carpel Tunnel Syndrome, which I suspect is what caused the numb thumb some fifteen years ago.
Would that doctors knew everything.
3
Among several take-aways from this story is that doctors need research space and time to accomplish what Huls did.
17
The story has a great ending. However one could leave with a false impression that good medicine will yield a diagnosis and treatment if only the doctor would work harder, research more, or think holistically.
This case should have been resolved much earlier had a proper workup been done for fever of unknown origin. It is not clear from the article why the elevated white blood count and the IgM were not pursued further by primary care. Nor is it clear why neither infectious disease nor oncology made any recommendations based on these findings. Also we don't know why the patient was not seen by rheumatology asconnected tissue disease is in the differential. Part of the differential for elevated IgM is Schnitzler Syndrome and SPEP would be part of standard recommended workup in this patient.
Even though the proper fever workup is not shown by this article, readers should not be left with the idea that all or most patients can be diagnosed even by extensive workup. Patients may inaccurately report symptoms. There maybe supratentorial overlay. Tests have false positives and false negatives. And there is no gold standard test to diagnose maybe even most conditions. Also, many maybe most condtions have no known treatment which may partially explain our nation's opiod epidemic.
Good job though for persistence and helping this patient. But proper medicine is reliant not on needle in a haystack research, but proper standard workup of which research is only a part of.
6
Reading this article both reassures me that there are dedicated, intelligent doctors, and frustrates me that it can be so hard to find them. I have had some but not all of her symptoms for over a year, and have been told by a doctor who had come highly recommended that it must be due to 'anxiety'. Just as other doctors had dismissed my post-concussion symptoms until I finally found my own neurologist with concussion experience. This is particularly galling given that I work at supposedly one of the 'best' hospitals in the country, live in an area with probably more renowned hospitals and research centers than anywhere else, and have good medical insurance, which many Americans don't have.
6
What was the expensive drug? Niacinamide (i.e. nicotinamide) would've done the job for pennies.
No, it would not have.
5
Didn't want to upset the insurer, eh? Also, what did the haematologist say?
2
The Insurance companies have always decided treatment. I laughed when the Republicans talk about death panels. Did they know they were talking about the insurance companies?
Also why does it take months, months! To get insurance companies to cover this? Shows you how stupid they are, they’re willing to pay thousands and thousands of dollars over the course of years and years versus a course of treatment that could solve this.
9
So there was this world famous medical clinic in Switzerland ....
And one day the top doctor in the place called three of his patients into his
office for a meeting.
One was an Englishman, one was French and the other was a Jewish man from Israel.
And the doctor said: "I have bad news and good news for all of you."
"The bad news is I have evaluated your cases thoroughly and unfortunately there is nothing more I can do to help you. All of you will die within a month."
"The good news is that I can grant each of you one wish, which may be anything you desire."
Hearing this, the Englishman immediately began to describe a month-long series
of elaborate dinners that he wished to have prepared for him by the most famous chefs in Europe.
Not to be outdone, the Frenchman asked that the ten most beautiful women
in Europe be brought to the clinic so that he might be suitably entertained by
them in the last month of his life.
Finally, the doctor turned to his Jewish patient and asked, "And what sir, may I
do for you?
To which the Jewish man replied, "Well to tell you the truth, I'd like to
see another doctor."
19
You should include the name of the insurance company that refused her life saving medication. Don't protect the company that is protecting their profits and increasing the suffering of sick and dying people.
12
This is a failure to diagnose fever of unknown origin. Part of the standard workup is SPEP which would have revealed the elevated IgM. One of the top differentials of elevated IgM is Schnitzler Syndrome. Glad she was helped by doctors that did not give up.
5
The doctors and medical community almost killed me with treatments for these symptoms but for other diagnoses. With 1 hour if integrative nutrition training in supposed medical school, I am now not surprised.
My symptoms scream this syndrome perfectly.
With no diagnosis, a recommendation to stay on prednisone to stem the symptoms discussed in this article, I fired my doctors. I began a very intense (started gradually, built up to 1-2 hrs/day of aerobic exercise, strength training and ZERO processed foods or animal products - nothing any doctor every suggested or asked about after years of searching for answers.
Changing lifestyle diet was never asked nor considered! Even after a trip to the famous Mayo Clinic (they couldn't find a diagnosis).
I went from a prednisone induced 260 lbs to 175. My prednisone induced osteoporosis (negative 3.6 DEXA score then, now less than -1) and diabetes (normal A1c from a sustained high 8'shave completely disappeared. My symptoms have waned considerably. I still have some uncontrollable night chills, sweats and bone/hand pain but at about 10% of the time and severity they used to be. I take NO medications currently and continue a 1-2 hour/day exercise routine, eat no dead animals or processed anything.
3
You need to see a good doctor.
3
If an insurance company refuses to pay for a treatment that should be covered which eventually cures the patient, the insurance company should have to pay triple.
10
As someone who suffered from incompetent diagnosis for years, I would prefer a keyboard to a physician as my primary medical point of entry. (The vast majority of people with achalasia are diagnosed as having its opposite, GERD, until they go to someone who takes the time to actually listen to them.) I could have nurses, pharmacists and physical therapists do most of the professional work. We go to doctors for prescriptions but pharmacists know far more about medications than they could even dream of knowing. Physical therapists are better for aching joints because they have more training in that area.
2
Why not name, and shame, the insurance company?
5
Wow. I really enjoyed that story. Computers and AI have a lot of unrealized potential. I know that predictive policing, for instance, does not work well. But it will someday.
1
The key here is that we can’t and thankfully don’t need to rely on a really good doctor to connect the dots anymore. We have big data to do this.
4
Absolutely wrong: a really good doctor carries much of the data around inside the cranium, and has the gift of assimilating and correlating incredible bits of data and information. How, pray, do you think we docs arrive at almost any uncommon diagnosis - and in many cases do so very easily?
5
From looking at the illustration of the multiple systems involved, I immediately knew it was an autoimmune disease. I was lucky - it only took 3 years for my Sjogren's Syndrome to be diagnosed. Of course, that was accomplished by my own googling, putting my symptoms together and pointing the doctor in the right direction.
4
The insurance company had spent years paying for her care...trips to the ER, hospital stays and various treatments...but they refused the one thing that would cure her and stop this constant drain. This is bad patient care and bad business. Why do we put up with this in this country? The only major country in the world that has for profit health care.
9
Why ladies and gentlemen are we complaining about the insurance that refused to pay. We have the healthcare system we created for ourselves through our democratic institutions. That is the way democracy works and we decided that it is in our best interest to have a market driven health care system.
5
Thank you to Drs. May and Huls! These docs are the real Dr. House!
2
Why didnt the family doc refer her to a hematologist years ago? FM does not cause fever. If he thought tgat the fever was in her head, she should have been admitted for observation and investigation.
2
On an AI diagnosis assistant: The right combination of symptoms is the key— here it was starting with Ig-m and adding other symptoms and reading, iteratively, for hours. Computing a diagnosis requires replicating the reading and narrowing part, plus replicating instinct with statistical likelihood. A hard, so far unsolved problem.
"May referred the patient to an infectious-disease specialist, who found no infection. The oncologist found no cancer. And the dermatologist merely confirmed what May already knew — the patient had hives, and it wasn’t clear why."
This is a huge problem with American medicine that I've personally experienced. Physicians are so specialized that they only look at the patient through an extremely narrow lens. A dermatologist only looks at the determatological symptoms. An infectious disease physician only looks at infections. And so on.
Physicians need to be better trained to put together multiple puzzle pieces.
64
I am fairly surprised to read that there isn‘t a database or something of diseases that you can punch symptoms into and narrow down to some list of possibilities? If this disease fit perfectly why did it take a year until some Dr. House guy magically figured it out??
1
Wow. Kudos to both Dr May and Dr Huls! The power of curiosity and determination.
31
I'll bet May and Huls are both from families of recent immigrants ( I recognize that thread or commonality in many "Diagnosis" mysteries). Praise be to them for their caring dedication n brilliance. Also, many physicians' cracking the medical malady or "mystery "seem to be residents in training". I worked several years at a teaching hospital and was introduced and exposed to a high caliber of "recently" (born or raised) physician immigrants. Edit as necessary. Thanks.
2
I am not insightful enough to understand. But could somebody, please enlighten me as to the underlying cause/causes of this Schnitzler syndrome? I assume that if there is a treatment for it, we understand the etiology? Or?
14
And her insurance company refused to pay for the drug that would cure her. So, it's more cost effective to continue to pay for endless tests and hospital stays? Or...perhaps the insurance company would rather she die? We do have death panels...also known as insurance companies.
85
What is missing from this story is the name of the insurance company that refused to cover the treatment and the name of the pharmaceutical company that agreed to provide the treatment drug.
Neither should remain anonymous!
78
A great great story.
Full marks to both doctors for their perseverence, care and diligence.
20
Please Dr. Huls, forge on! Thank you from all of us who are well but fear that it might one day be us. Thank you, too, Dr. May for not disregarding unusual symptoms. So often women's health issues are marked up to some sort of "hysteria". They aren't. They are just more complicated. It takes the persistence and care of good doctors to come to good outcomes. And as for the insurance company taking a year to approve a drug: SHAME ON THEM. Single payer, single payer, single payer, single payer, single payer....
48
Two takeaways: the importance of implementing AI to assist in diagnosis and the need to find a different economic model for drug development and reimbursement.
25
My big Takeaway is that all doctors need to understand how to do Internet searches better. That is ultimately what PubMed is – it’s just an Internet database Medical journals. It should be the first step when some illness is not readily identifiable and there are documented pathological results. Yet this is not the approach most doctors take.
Something similar happened to me – not with a rare disease – but with a common tickborne illness that no one could diagnose. It was not Lyme disease – it was Erlichiosis. Finally one of the young doctors googled my symptoms – and ultimately it was a textbook case. Google is not nearly as credible and specialized as PubMed of course – but my point is that an online search should be as frequently used as a blood test when a doctor is stumped when it comes to diagnosis. And right now it is not routinely used at all.
6
I do not believe using PubMed would be considered using AI.
Great work, but in truth a dx that comes to light with just a bit of digging. If one goes to Pub Med and enters "elevated IgM differential diagnosis" (clearly an essential clue as to what was going on), one rather quickly finds an article published in 2001 in a highly respected American journal (Medicine) describing 4 new cases of the Schnitzler syndrome and a review of the literature. The clinical description in the article fits the patient in the article perfectly.
As an aside, if I am not mistaken, a lawyer may bill for the hours, days, or even weeks spent researching a case, whereas this is entirely uncompensated time for the physician. Methinks the smug tone of lawyerly superiority does not sit well at all.
39
I don’t think being a smug lawyer is the standard we want to hold ourselves to.
2
What exactly is your point re “the smug tone of lawyerly superiority “? I can’t even figure out what you’re referring to. As an attorney now working on earning an MD and hoping to practice medicine, I don’t sit around and whine about whether attorneys or physicians are more smug or overcompensated—I know too many amazing attorneys and physicians who don’t get enough recognition for what they do.
3
If you dig through the hundreds of letters, there is one from a lawyer bemoaning the fact that so few doctors put in the time to research mystery cases in depth. He then goes on to say how he will spend hours, days, and sometimes weeks researching a case,and lamenting the fact that so few doctors live up to this standard.
What would a health care system driven by genuine curiosity look like? If we could develop AI to do a lot of sorting and searching, we could free up a lot of curious intellects to verify, care, and cure. Drug companies should serve rather than drive.
11
The action of this doctor is basic diagnosis. The article makes out that he is doing something exceptional - while he is just taking the time to do the job actually reauired of a physician - putting together a list of symptoms, looking them up in a database and making a considered opinion.
30
Your comment is correct; your conclusion that Drs. Hugs and May were not exceptional is absurd. It ignores the the current standard of care in our current medical system.. when is the last time you had a physician spend more than 15 minutes with you? It's assembly line process: How many patients can be seen and processed through the system daily. It is all about financial metrics and Book (appts.) to Billings ( invoice for payments). These doctors are exceptional because they did what the majority fail to undertake: countless hours at no pay for their efforts.
7
You're right - it is exceptional of the current state of care, but not exceptional of a doctor who has afforded the time to investigate. That's what needs to change.
1
There should be a computerized algorithm to help with a differential diagnosis. There is no way any physician should be asked to recall all the signs and symptoms for all the disease listed in a 7-inch thick medical book. This is an antiquated way of treating patients and should have ended years ago.
23
"You have fibromyalgia." How often are patients told that by doctors who just can't or won't really try to figure out what is wrong with them. I have come to the conclusion that the very term fibromyalgia was invented to come up with an easy way to deal with patients such as myself with undiagnosed autoimmune disease and chronic pain and fatigue.
28
Doctors who couldn't figure out what was wrong with the patient (usually a woman) used to tell the patient, It's all in your head.
5
This is why RESEARCH matters! Two leather elbow patches to you, Dr. Huls! You have joined the community of researchers and will always be one of us!
28
Now THERE's a medical Professional -- one who has a brain, knows how to use it, and CARES to use it. Let's hope that Dr. Huls has an apprentice, in the original tradition of the word.
(Too bad we don't actively teach inductive reasoning anymore... we might have had a few more people like this.)
29
Can I get Dr Huls to diagnose my friend? She has IBM, fibromyalgia, Reynaud's rheumatoid arthritis and a couple other things at the age of fifty two.
8
Contact the Myositis Association
IBM's computer Watson, if properly programmed, could have come up with the diagnosis in a nanosecond.
10
Exactly my thoughts. This is one area where AI will clearly have a positive outcome for humans.
7
A true Doctor! A Scientist.
15
In the US only rich people deserve to live, the greed of the few truly disgusts me.
11
You wonder about that fibromyalgia diagnosis. Because they heard it on television? Don't ask. But this is a great story and now that we've heard it, who will ever forget a disease called Schnitzler? On a more serious note, it's gratifying to read that this patient's suffering is behind her.
17
Her insurance refused to pay for the medication???
What a joke our system is.
54
Our private insurance system decides who is treated, lives, or dies.
2
Dr. Forest Huls. I bet everyone reading this column would like to have Dr. Forest Huls. a one in a million medical version of Sherlock Holmes as their doctor. I know I would.
22
"Her Various Symptoms Seemed Unrelated. Then One Doctor Put It All Together."
It appears nytimes is moving toward click-bait-like headlines. That, by itself, caused me to almost skip past the article as I assumed it was click-bait. I think it would be a shame if nytimes began to resort to click-bait to get attention. Anything of the sort will quickly, and near permanently, lose my loyalty.
3
Drs. May and Huls are heroes in my book.
12
I wonder if a powerful decision assist program like IBM’s Watson would have diagnosed this patient’s disease a lot quicker and with a lot less cost. Maybe IBM should use this case to put Watson to the test.
8
I would hope that Dr Huls would look at m.e./c.f.s. And try and find a cure because nobody else can seem to do it.
5
The most upsetting part of this report is that the patient's insurance company refused to pay for the treatment. See Milton Parker, MD's blog on November 18, 2017. He reports giving a talk to retired physicians employed by insurance companies who do preauthorizations for drugs and medical procedures. "We typically reject requests," they said. When Dr. Parker pointed out that they were denying care patients needed and simply making money for the companies they worked for, they responded "If I approve too many expensive drugs, I won't get my bonus at the end of the month". It appears that these denials are being done by unscrupulous physicians. Very sad.
JoAnn Smith, MD
34
Good on you Dr Huls for first listening to this poor woman, then persevering. Too many doctors don't. Here is a true story told by psychiatrist Dr Tom Ban, who, at the time was the head of the Department of Psychopharmacology at McGill University in Canada, to groups of doctors with whom he was discussing diagnosis. A Puerto Rican woman in New York complained to her doctor that when she opened her mouth, flies flew out. This was in the 60s. She quickly found herself in the admissions department of the old Bellevue Psychiatric Hospital. Fortunately the doctor interviewing was alert. As she opened her mouth to answer one of his questions, a fly flew out. Turns out that she a piece of mango lodged in a large dental cavity, there were fruit fly eggs in it and the flies were hatching in her mouth. The lesson those doctors took away was to listen to their patients and believe them no matter how unlikely their symptoms were. Dr Huls, as a persistant young man, has a lot to offer the medical profession.
25
Unfortunately, our fee-for-service medical system discourages doctors from spending time listening to the patient.
9
A marvelous detective story that is not an endorsement of AI, or even an electronic database. Rather it is a story of dedication, determination and a talent for reason and logic that can be aided, but not replaced, by computer driven problem solving. Devotion to clinical problem solving is foundational for academic medical centers and needs to be nourished and never abandoned for the sake of documentation for billing.
10
Dr. Huls, can you please help me too? I have a rare auto-immune disease that also involves sudden high fevers, muscle weakness, and joint pain, and painful rashes on my legs. Over 40 years and still no answer. We need to reward and encourage compassionate and hard-working doctors like those in this article. And curses upon money-grubbing insurance companies!
6
Well done! Defining a new disease is very difficult in the medical field. So my hat is off: to Dr. Schnitzler for finding this disease as it is that alone that allows treatment to be developed: Dr. May for caring so much to stay with this patient when others may have stopped; and, Dr. Huls for making the differential diagnosis. Trifecta!
11
This shows the power of computerized diagnostics. Not only can it identify unusual diseases, it could provide access to medicine for the many who are uninsured or with inaccessible insurance. Of course that assumes such diagnostics would be priced for access, which in our system is not at all as safe assumption.
3
What bothers me the most is that "the woman’s insurance company refused to pay for the new and very expensive drug". Why can an insurance company refuse that when it is the only available efficient treatment? What kind of country is it we live in?
15
If you told a fine dermatologist the history, symptoms (especially the combo of chronic urticaria and arthralgias) and labs, one of the very first diagnoses to come up would have been Schnitzler's. There are a number of others one would have to think of in the differential diagnosis.
6
Dr. Forest Huls is the "Columbo" of his field. Some people just possess a knack for figuring things out. Whether it be a gift, a skill, or a talent, Dr. Huls will no doubt win a Nobel Prize for figuring out a mystery that have eluded others for years. Who knows, he may even discover the key to curing cancer.
Wonderful and inspiring article. Thank you for sharing this information.
5
The doctors in the story are wonderful, but the folks at the ambulance company who agreed to take the patient to a teaching hospital are heroes deserving an award. It took courage not to default to "the rules say we have to take you to the nearest hospital (and anyway we want to get back to our office)."
23
My reaction to this story is -- what is wrong with our medical system today. With all the technology we have at our finger tips why are doctors still stumbling around in the dark when it comes to diagnosing these medical mysteries. The level of attention that Dr. Hul dedicated to this patient should be expected of all doctors for every patient. I feel so bad that this family had to suffer with this illness for so long -- a tragedy that speaks to our broken system of care.
6
"When the woman’s insurance company refused to pay for the new and very expensive drug, May appealed to the manufacturer, which agreed, after several months, to provide it."
I wonder how the people at this insurance company justified denying medication to a human being suffering as much as this woman did. For shame.
We can't allow insurance companies to dictate who gets what treatment. We need to do better.
19
"We can't allow insurance companies to dictate who gets what treatment."
The insurance don't "dictate" treatment, they refuse to PAY for every treatment for every disorder. You are free to get whatever you desire, on your own dime.
Why is it that so few MD's have the intellectual curiosity to pursue a diagnosis in so many cases? Admittedly this was a tough one, but how many of us have had a doctor conclude that our problems were psychological in nature? I had fibromyalga due to stress before it was a real thing and was told it was all in my head by several doctors. That happens particularly to women. That makes this story an ad for equal treatment of women. Part of the answer, I think, is financial. When you can't spend more than 15 minutes with a patient, it's pretty hard to track down an obscure diagnosis. Admittedly most patients don't need more than 15 minutes, but we need to build into our system time for doctors to spend pursuing difficult cases. More doctors would also help.
3
I am less sanguine about the potential of "artificial intelligence" to diagnose rare conditions. The computer can sort through the data base only if the disease, its symptoms, physical findings, laboratory results and imaging studies have first been entered, and if all the data is consistent with computer's diagnosis. It is much more common to have an unusual presentation of a common disease, than for that to be a common presentation of a rare disease. Artificial intelligence will never be a substitute for the real thing as evidenced by Drs. May and Huls,. but I am afraid that the "health care delivery system" considers them not to be cost efficient.
Daniel Allan, MD, FACS
8
'Have never trusted MDs and this story is a textbook example of why I feel this way. A huge list of symptoms and a claim of a miraculous cure. But no description of the treatment. Why? Because that's information for MDs and I should not concern myself with that.
2
Great story. In the end, a single human brain is the most powerful tool for progress.
1
Even to me, a lay person, this woman's symptoms suggested an allergic reaction or an autoimmune disease (the hives). Whey did it take ten years (!) for doctors to diagnose it, ten years in which she was spiking a 102 degree fever and vomiting every night? Good grief.
4
My wife had a similar situation of being sick and no one could figure out why. She saw specialists for bouts of bronchitis and pneumonia. She would overcome one infection and soon another infection would occur.
Our family doctor went out on a limb and suggested that my wife be tested at the age of 40 for CF (cystic fibrosis). The 1st specialist we saw asked if my wife had talked herself into believing she had CF. He was very dismissive. But he ran the test and yes she did have CF.
It turns out that there are multiple versions of the genetic disease. And some versions are milder than the worst kind. And it often goes undiagnosed. The Universities of Duke and North Carolina were spearheaded research into those very genetic variations. And my wife was perfect for their studies.
They were able to help her, but it took years before a CF clinic would admit her as a patient. She has to constantly fight for the medications that she needs to be able to stay healthy enough so she isn't constantly suffering bouts of infection.
If it wasn't for grants and insurance that pay for her medications, we would never be able to afford the medications she needs. One drug costs 300K a year. Another 50K a year. But without them, she would die.
Our medical system of jumping through hoops for life saving measures is ridiculous. People shouldn't lack for treatment just because they have no money or insurance.
As long as we continue this medicine for profit system we have, people will die.
10
Support may be available to you through the Cystic Fibrosis Foundation, which has a lawyer-advocate on staff to help you untangle the lack of treatment coverage. Similarly, I was dx'ed with CF at the age of 45, after a lifetime of exhibiting classic symptoms, including recurring lung infections and GI issues, that were (fortunately) not at the extreme end of the spectrum that most physicians learned to recognize in med school. After my pulmonologist dismissed my bronchiectasis, revealed in a CT scan, as nothing to worry about, my new GI doc recognized that and a fatty-replaced pancreas (also dismissed by my old GI doc) as reason to test for CF. It took someone who put together two important pieces of information (one out of his "specialty") to reveal the underlying cause of a lifetime of problems. I now get the care I need, and better understand how the disease affects different parts of my body. (I also now harbor a skepticism toward new doctors, until they prove to me that they know how to think insightfully.)
In the end, we were able to get help. My wife uses the CFF. And she has the CF clinic to help her now. But for over ten years in the beginning that was denied to her. It was a big problem for her.
Our GP was also out of her speciality, but was able to piece the clues together. It helped immensely.
Sorry to hear you suffer from it also. One of the things my wife learned was you had to fight as an advocate for yourself. And to educate yourself as much as possible about the disease (Though that is true for any disease).
I wish you well and good luck in staying healthy.
The patient’s age is cited at 68. Would her care not be through Medicare and/or Medicaid? How could government programs not pay for care like this?
You are kidding, right? They pay for much less than you think. And Medicare supplements stink, too.
1
You don't understand Medicare supplements. Medicare supplements aka Medigaps were never designed to pay for medication - only medical services. Medicare pays 80% of an approved service/procedure. Medigaps pay the 20% gap in Medicare Parts A (hospital) and B (doctors, labs, outpatient) not paid by Original Medicare.
Prescription medication is provided through Medicare Part D. Patient chooses her Part D insurer. Sounds like the current Part D insurer had not include the needed drug in its formulary. During annual open enrollment, patient can use Medicare's online tool to find a company which does include that medication and switch plans. Expensive medication is generally a high tier drug with much higher copays. More on tiers, here:
https://www.bluecrossnc.com/understanding-insurance/how-drug-benefits-wo...
3
So a good doctor can diagnose a disease, but the insurance company can refuse to pay for the treatment .... and there are NO punitive consequences for the insurance company whose refusal to pay for a treatment condemns the patient to suffering and perhaps death. What kind of a society have we created?
13
Many readers are suggesting that computers should take over medical care. One reader noted that if you Google "fever, hives, elevated IgM," the first hit is for Schnitzler syndrome. But this article presents the symptoms and lab findings in a neat package, with the diagnosis already known. In real life, patients present with a lot of different symptoms and often have abnormal lab values or exam findings, only some of which may be related to the real problem (this is especially true as patients get older). I'm confident that this patient had other symptoms or abnormal lab findings that were not mentioned in this article because they weren't relevant to the diagnosis. I am a medical student and every day I see patients who have elevated liver enzymes or a strange rash that has nothing to do with the disease that brought them to the hospital. They might have two or more disease processes happening at the same time, or they might have some unusual findings with no pathology behind them at all. Part of the art of medicine is in figuring out which abnormal findings are relevant and which can be ignored. We have a long way to go before databases can replace doctors.
13
If only all doctors had the intellectual curiosity and the compassion of Drs. May and Huls. The danger of going to mediocre or uncaring doctors is that they can put patients on a downward spiral with wrong diagnoses and wrong medications. At some point it becomes nearly impossible to figure out if the symptoms are a manifestation of an illness or whether they are a reaction to various medications.
5
Reading thru the Times Picks comments, there is a sense that people think the Electronic Medical Records is some wonderful magical tool. Honestly right now all it does is provide a legible copy of (a previously, poorly handwritten) copy of symptoms and labs. One hospitals system doesnt even necessarily communicate with another computer system. Furthermore, there is no way to search the records and come up with a diagnosis; there are programs that are coming onliine now to do diagnosis, they are far from being a good medical tool, but it is a start.
13
Sorry to pour cold water on this great mystery, but this appears to be a straight forward case of adrenal fatigue, which is actually quite common but goes undiagnosed and untreated as it is never taught to allopathic physicians during their training. Just Google "adrenal fatigue" and compare the symptoms with this woman's: exhaustion, inability to stand, joint and muscle pain, bone pain, etc. Adrenal fatigue gives rise to a whole array of autoimmune diseases, as the missing cortisol is no longer suppressing the immune system, including macrophage maturation. Google "cortisol and macrophages" and you'll see the scientific papers substantiating this. I treated these poor devils by the many hundreds in my my 41 year medical practice. This woman needs to rebuild her natural adrenal function and the little self-help book, "Adrenal Fatigue" by James Wilson, PhD,etc. will guide her. I'll bet the expensive wonder drug that's not identified in the article is a synthetic steroid, since this poor woman obviously is not making her own cortisol (an adrenal steroid). Google "Stress R Us" for details. Sometimes we can't see the nose on our face, including in medical practice. Stress R Us
12
The drug they gave her is anakinra, which as an interleukin 1 (IL-1) receptor antagonist. It costs roughly $15,000 a year.
This wasn't called adrenal fatigue because adrenal fatigue does not exist. It is not a real medical condition. There is absolutely no evidence to support such a diagnosis. Endocrinologists reject it. Adrenal fatigue is another fake disease that has been invented to explain mysterious symptoms with no easily definable cause, in the same category as chronic Lyme disease. The patient's symptoms are certainly real, but the illness is not.
Readers - if you consult a health practitioner who diagnoses you with adrenal fatigue, get up and run away from them. Run as fast as you can. Don't look back.
3
Not even close. Google it. Don't put out poorly researched information and anecdotal stories as fact.
1
Database things. I write databases and we are all recipients of database information. This comment section of the times is operated in part by a database.
Medical databases seem like the natural means for doctors to solve medical issues. I don't know why they don't scour them first for answers before putting patients into 1) a series of repeat blood tests which end up scaring the patient's veins 2) unnecessary x-ray exams 3) unnecessary organ testing - with radioactive dyes and x-ray analysis of where the dyes go, and any other set of tests which hurt, literally the patient.
However, that stated, in two different large hospital systems, as a patient recipient, I have encountered serious flaws with the use of the hospital's internal database which might subscribe to parts of a larger database such as MEDLINE or CATLINE.
PubMed is for me the lay person a mere glimpse at peer reviewed medical findings in one database. It is NOT AI, just as a note. We DO NOT HAVE AI in medical diagnoses nor do we have AI for prescribing and managing drugs.
Also, if anyone is reading, I think that all patient's history should be included in a database so that other patients may benefit from the statistical information about a prescription efficacy(effectiveness and outcome against claims).
Lastly, what is this wonder drug? How often does a real patient suffering from acute illness encounter a single drug which will cure him or her?
21
“'When I see people suffering and I know that if I took the time and effort, I could figure it out,” he told me, “then I have to do something.” Huls hadn’t heard of Schnitzler syndrome, either. He came upon it by using the database PubMed to look for a disease that matched the patient’s symptoms.' To this non-doctor those two quotations are the takeaway. We rely - or thought we could rely - on doctors to have the attitude and pluck of Dr. Huls. Ha! Was PubMed unavailable to all the patients' previous consultant physicians?
13
The U Miami’s Medical School graduation speaker, told the graduates that they were already 5 years behind in keeping up with current research and data. Kudos to this young pathologist, his residency training and hours are less stressful than other specialties, thus giving him time to research.
1
I also have a one-in-a-million autoimmune disorder that stumped many doctors. Only my beloved stepdaughter found some links describing my diagnosis of Stiff Person Syndrome. I was extremely lucky she identified it after me going thtough only a few months of dangerous falls (SPS attacks the axial muscles which control balance and ability to walk). It's another one of those "great imitators" which, to identify, can be like looking for a needle in a haystack. Bravo for getting the word out on these rare diseases. Not to mention SPS was first identified around the 1950's. It was referred to as "Stiff Man Syndrome" for a long time. Ironically, the first case was a woman and it occurs twice as much in women as in men. They say it's one-in-a-million but some believe it's much more common and, on average, take seven years to obtain an accurate diagnosis. Y'know cuz women are so hypochondriacal and hysterical. /s
22
A far too common practice of far too many doctors is to "see what you look for, and look for what you know".
Congratulations to Dr. Huls!
16
"Dr Google" has diagnosed more rare and obscure illnesses than MDs and universities would care to admit.
When protein folding was turned into an online "game" amazing things began to happen. In 2011, "Foldit" players helped decipher the crystalline structure of the Mason-Pfizer monkey virus (M-PMV) retroviral protease - a scientific problem that had languished unsolved for 15 years. This is a virus which causes HIV/AIDS,
I suggest the developers of PubMed create a friendly user interface and offer fake Internet points. Hold competitions. Allow long-suffering patients to submit lists of symptoms, lab results and anything else PubMed requires as input. Give amateur medical sleuths a chance to help others. People can be amazing.
Be sure to check out Scientific American's article on crowdsourced AI Medical Diagnosis App, and http://www.nytimes.com/2012/12/04/health/quest-to-eliminate-diagnostic-l...
And a huge shout-out to Dr. Huls for sticking to a tough one.
16
If you're going to throw around scientific sounding stuff, at least make sure it's accurate. The above virus produces SIMIAN HIV, not human HIV, infections.
3
Dr. Forest Huls, please help us with fibromyalgia. Many of us suspect that it is in truth actually flouroquinolone toxicity. It seems to cause brain damage that causes the fibromyalgia symptoms.
Those of us who are suffering greatly cannot find much help. We really need your help!
4
How many of us want a Dr. Huls in our lives or the lives of those we care about. And, we need to put the pieces together instead of having our health put in speciality silos where the lines don't cross let alone blur the lines.
5
Two things stood out in this article:
Dr. Hul "When I see people suffering and I know that if I took the time and effort, i could figure it out" .....so simple/basic yet a concept/discipline no all doctors have. Some quite content to prescribe something to manage the symptoms and not really caring to understand root cause. Bravo Dr. Hul wish there were more like you!
Second "When the womens insurance company refused to pay for new and very expensive drug"....disgusting...how dare you play God with someones life. We live in a broke health care system, whether you have ACA or private insurance, SHAME SHAME SHAME on you insurance companies.
20
Nice outcome, but still not clear how Dr Huls got himself involved? He caught wind of a high IgM level in a large university hospital and took it upon himself to go digging?
4
"... the woman’s insurance company refused to pay for the new and very expensive drug." Disgusting behavior by a cruelly cold-hearted corporation putting profit ahead of compassion in the pursuit of the almighty dollar.
That our do-nothing legislators allow this fiasco to continue is a blight on us all. Everyone knows 'they' would have gotten the drug without the slightest argument.
15
Many of us suffering from "idiopathic" diseases need a doctor like Huls. You move from one doctor to another, one med to the next, symptoms ride their own waves hitting you when they please. I am very, very pleased that this woman has found the source of her problems and got the treatment. Hoping for he same ...
9
When I was at med school, an internal medicine professor described "idiopathic" as the state where the patient has a pathology, but their physician is an idiot.
Calling on experienced colleagues at big teaching hospitals is important when one has a challenging case. Equally important is to avoid blaming fake conditions such as "adrenal fatigue" or "chronic Lyme disease". Remember, the patients symptoms are real. Find the cause, and don't resort to sham diagnoses.
9
I would like to know the name of her insurance company.
10
You might consider publishing the name of the insurance company that refused to pay for the life-saving medication.
18
And what would the name of that insurance company be? And why were they not contacted for a comment?
13
What is the name of the drug company that refused this woman, effectively issuing her a death sentence?! If NYT is (rightly so) publishing names of sexual predators, why should NYT protect a predatory company? Give us the name of that insurance company. That is the only why this won't happen again, if their machinations are brought to public outcry.
15
Many, if not most, insurance companies will do this. I had worked in medical claims appeals when I could still work. The treatment will be labeled 'experimental' or require that multiple other treatments be tried first - whether or not they are related to a specific diagnosis. My previously excellent Part D insurance switched to a pharmacy 'benefits management' company that put all disease modifying rheumatics treatments up 2 tiers to essentially un-affordable. I had to drop the effective DMARD I had taken for 20 years.
I was lucky enough to be dumped into the 'doughnut hole' last year by other needed prescriptions and was able to receive my one name brand drug free (through Pfizer's assistance program) despite Medicare's rules being set up to prevent assistance) and to discover that I now qualify for Medicare extra assistance for my generics, including the DMARD drug that I had had to quit taking.
Th thank the old man in the sky that our capitalist insurance system had the courage to deny the lifesaving medicine, developed by the capitalist pharma company, to this patient. Without those wonderful entities where would we be?
Suffering under the yoke of socialized medicine.
And wouldn't that be awful.
14
I’m puzzled as to how the daughter convinced the EMTs to drive 50 miles to a better hospital. Every health insurance plan I know of prohibits the picking and choosing of hospitals when the patient is transported by ambulance. My late mother was once taken to an obscenely expensive, private hospital she didn’t know, when her usual, very familiar, Catholic hospital — which she requested — would have meant a trip of just three to five more miles. Ditto a top-notch public university hospital.
Why did the writer skip over this obvious anomaly? Didn’t want to go there, I suppose, because the daughter was abusing the system?
This makes me angry. My closest hospital — the one I know I would be transported to unless I needed a trauma facility — is horrible. There are two top-of-the-line hospitals within fifty miles of my home, but this wrong-side-surgery institution is the place I will be taken to if I ever have an emergency in my home or nearby. So that paragraph about cherry picking a hospital got my hackles up.
7
Note that the insurance company rejected paying for the utterly necessary cure. This sort of thing needs to change!
13
It has already been said, but Dr. Google is perfect for problems like this. Put in the symptoms, out comes the diagnosis. That’s how I diagnosed a patient with Cowden syndrome, which allowed his sister to be diagnosed with breast cancer much earlier. And that was probably eight years ago. It’s even more powerful now. Many readers I’m sure have done this, but if you put in elevated IgM, fever, hives, the first five hits are Schnitzler syndrome.
3
Correct. The first result I get is a site called: 'rarediseases-dot-org' - online since 1998. Not sure what or how they teach in medical school, but perhaps they should spend a minute on 'online research'... And inform 'older' MD's about something called the internet - you know, that thing their patients use to pester them with inane questions...
1
As someone who was undiagnosed for 20 years, and misdiagnosed for another 13, I shudder to think how many others remain in either status. My true condition, a genetic connective tissue disorder called Ehlers-Danlos, doesn't have any effective treatment or cure, but knowing what you have can at least help you avoid making your health worse and it sure beats people/doctors telling you it's stress or in your mind. Maybe there should be a new physician designation, Dr. of Diagnostic Medicine— they specialize in merging technologies such as search engine/data mining algorithms with medical databases.
14
"When the woman’s insurance company refused to pay for the new and very expensive drug, May appealed to the manufacturer, which agreed, after several months, to provide it."
Why not identify the insurance company and shame them?
And praise the manufacturer. Though the manufacturer, Swedish Orphan Biovitrum (Sobi), probably doesn't want its name used because more "charity" cases will apply.
Hey, I just got a another idea. Why not have "Medicare for All!" and a section of the NIH set up to produce these typically orphan drugs at the cost of manufacturing, rather than letting the price gouging Martin Shkkrelis of the world profit unreasonably at others misery? And then spreading the risk out over 325 million people will make those super pricey drugs a thing of the past.
Heck, the drug for Schnitzler's syndrome was probably developed by Amgen with tax payer money through NIH in the first place.
21
Reading Dr Afrin's book, Never Bet Against Occam ...about the range of mast cell activation syndrome/disease presentations...great resource ...so many manifestations ( including Lyme)
2
"When the woman’s insurance company refused to pay for the new and very expensive drug...."
The richest country in the whole wide world, and the doctor had to beg for medicine to treat a patient with "an important diagnosis."
Why act so poor when you're so rich?
11
PubMed is not some mysterious database! A good medical librarian/searcher could data mine those symptoms using PubMed. Why didn't her docs use them, if they could not do it themselves?
3
Is there any reason why Dr. Sanders or the NYT has not identified the name of the insurance company involved and the name of the pharmaceutical company that finally provided the medicine at no cost? That information would be really valuable for patients and patient advocates in dealing with each of them in the future.
6
PubMed appears to be accessible online. This will be an empowering tool for patients whose doctors are stumped.
1
PubMed is indeed available to all: but it is a digital repository of the scientific and medical literature. It is designed for people who know how, and what, and why, they are reading the original articles. It is designed for scientists and physicians, although lay people can easily access it.
It is not designed as an algorithmic platform in order to allow someone to make a diagnosis. If you try that it might well prove fatal.
5
We have the weirdest insurance system. It refuses to pay for illnesses we cannot afford, the very thing that Insurance is needed for. It's like car insurance that will pay gas bills but won't pay for an accident
10
Moral of the story - if you or someone you love is very sick, or has constant problems but can't get a proper diagnosis, get yourself to a large university hospital ASAP. Chances are nearly 100% your local GI/oncologist/neurologist/cardiologist/etc/etc is not the world's expert, no matter what they claim.
12
A medical colleague used to advise that sometimes when you hear hoofbeats, don't just look for horses or Zebras, but also for the presence of flying toasters!
3
Perhaps Mr Huls would consider adding Diagnostician to his degree in medicine.
Thanks to one man a woman is being brought back to health?
The name of the drug company who refused her aid needs to be published,even though they finally agreed to help.
Thanks to the Doctor who found Mr Huls.Team work,minds working together,
Did what specialists could not.We are not separate parts we are one body and
Mind.
4
He combed through her chart, inventoried her symptoms, did a PubMed search, then read the references it returned?!?
This says as much about the diligence of her other physicians as it does about the talent of the guy who finally diagnosed her. And it’s is an indictment of the way doctors are trained: if you hear hoofbeats and don’t find horses, then you don’t onto throw up your hands. You start looking for zebras. And you call the best research clinicians you can find, and run it past them.
this course of action seems obvious to new -and I’m a patents lawyer, not an MD.
9
The tools the CIA and DEA and FBI and NSA possess could have, with a simple algorithm a child could write, identified this woman's malady in 0.0004378345 seconds.
The tools invented and developed for "war" often have important uses in peacetime. I'm real happy my protectors keep me safe by tracking my every move and intercepting every word I speak or write, but I hope they get bored with that in a while and begin to use the tools we pay for for some good.
4
Why? Why did this patient's body suddenly and persistently mount an auto immune system challenge? Why were the phages turned on? It's amazing that there is medicine to block or stop this physiological process. That does not resolve the reason or root of why the body is reacting this way. Get to the why and you will resolve the underlying issue and hopefully not have to be on medication for the rest of your life. I wish Dr. Huls would become a functional medicine doctor and get to the why not just the what.
3
Did the patient go OUT OF NETWORK for care??? This article just shows America needs to standardize on one national health plan, one national provider network, and one national health risk pool, so that no American is restricted to a limited health plan in a tiny health risk pool, with limited provider network and limited drug formulary, and all where a private insurer can so NO to a lifesaving medication or procedure.
11
A lot of diseases have strange names for the people that first describe them. I have Waldenstrom macroglobulamina and Scheuermanns disease but Schnitzler syndrome sounds even worse. There needs to be more Smiths doing research so our problems don’t have to sound so horrible.
3
Nothing likes to be characterized by some total stranger, not even diseases.
"When the insurance company refused to pay...". Now we hear in the news that Aetna routinely refused coverage to patients without even reading their charts: https://medcitynews.com/2018/02/aetna-medical-director/.
Lovely.
12
great story.suffered but got lucky.good
1
Wow, Fibromyalgia. You'd think, whoever that doctor was, would've ordered a blood test and noticed the abnormal WBC given her fever and chill. Instead, the doc decides it's Fibro because it did not fit anything he/she knows and the patient complained about pain. Maybe the doc didn't take her complaint seriously either. You know, middle aged women.. pain.. hysteria.. It's no wonder diseases like Fibro are getting a bad rap as the waste basket diagnosis and therefore not taken seriously by some people.
This is an exhibit #1 for why people should shop around for the doctor.
11
Who is the insurance company? Time to start a "MeToo" movement to bring awareness and attention to insurance companies behaviors and are bent on profit rather than saving health and lives.
11
What I wonder is if any of the other (many) doctors she'd seen, or who had been consulted, tried using PubMed to figure her symptoms out. Was Dr. Huls really the only doctor to try researching her symptoms this way--or is he just a better, more persistent researcher?
8
Goes to show technology will never take the place of a provider who is diligent, curious and collabrative. Yes, scans and blood tests are required, by process of elimination, to provide a diagnosis. Apparently software which analyzes test results and provides closest possibilities is not out there? If not, it certainly should and no doubt will be. All obscure diagnosis possibilities included. This will never take the place of the dedicated health care provider (who should include any and all; NP, PA, RN). With information in hand, a lay person should be able to research. So sorry this poor woman suffered for so many years. Much gratitude to Dr's May & Huls and others like you. It takes a village. Keep up the great work!
1
I'm a recent M.D. It took two dedicated doctors to actually care about this woman's symptoms to find out what was wrong with her. Too often doctors are rushed and just want to get patients in and out. I saw it with my own eyes during medical school.
9
"There is no substitute for a physician dedicated to helping a suffering patient. The database was invaluable - and this is an ad for use of electronic records - but it still required a person to take personal responsibility for the search. Dr. May took the patients complaints seriously; Dr. Huls saw this as a challenge instead of a burden."
Just find a dedicated doctor--it's not that simple, Cheryl. Most doctors, NPs, PAs are dedicated and caring. They love intellectual challenges, which is why they read articles like this. BUT, most of us don't have the time to devote to a single patient; a good review of a pt's charts, history, meds, symptoms, previous diagnoses & tests could well take 10-20 hours. Add a few more hours to synopsize & present your theory & more hours to examine the pt.
Average provider is scheduled to see 20-30 pts per day, not by his choice, but by his boss's demands. After the pt leaves, the provider may have another 10-20 minutes of charting to complete on that person. So when would you like him to devote this time--on his weekend, by unpaid overtime, by giving up a personal life? I imagine that the excellent Dr Huls is not carrying a full panel of pts yet--or is in a situation where no bean-counter is demanding an account of his time.
The rest of we caring providers would love to be in that situation.
9
Bravo to the doctor that actually cared enough to stick with it! We need more physicians that actually care for the patient.
1
In Modern Medicine only a handful of doctors have the time to do this excellent work Dr. May has done with this luky patient, however government and insurance regulations and paperwork take most of the time a physician can dedicate to complicated cases. I you take too long of a time with patients, they will angry patients which will post bad complaints on social media that your employer and insurance companies will lower your salary or kick you out of their provider panels.
3
A big SHOUT-OUT to Dr. Huls! And to the suffering patient's daughter who fought to get to the truth. I'm glad this story had a happy ending, but if anything, the real lesson here is that patients pretty much are on their own in finding answers/pushing for solutions to their health issues. If your symptoms don't fall into a neatly prescribed checklist -- sanctioned in part by the all-might Insurance Companies -- then too-bad, so-very-sad. You are told to "Go home, lay off the carbs, and take Tylenol." Americans, unite! for compassionate health care!
3
I had a similar experience years ago...and only after months and months of misery was the "syndrome" identified...Ryder's Syndrome had given me "itis" in every possible way...conjunctivitis, arthritis, gingivitis, urethritis... I lost 15-20 pounds and had a miserable life. These multi-symptom syndromes are very hard to deal with because of the various medical specialists who have a very narrow lens....one guy says this; another guy says that.... But Dr. Herbert Henman and Dr. Dan Bernstein cracked the code, for which I am forever grateful. The young doctor hero in this piece sounds like them.
2
It's Reiter's syndrome, NOT Ryders.
And since the eponym belonged to a Nazi, it is now referred to as "reactive arthritis", and is often actually an easy clinical diagnosis to make.
3
Once again we learn that a ubiquitous intruder stands between patients and their doctors: insurance. Will we ever learn how broken our national health care situation is in contrast with most countries?
5
I regularly fantasize about having help from MD’s such as these, tenacious science minds that are driven and who care enough to not give up on a hard case, to not defer to clinical values or psychological origins for something they can’t or won’t figure out. In my mind I sometimes plead at the very least for my current GP to just admit do not knowing what is happening - at least do this for me.
I have a mysterious illness that has changed me and my life. If you are a health professional reading this please don’t give up on people like us. We need your help. Thank you.
7
Physicians and other health professionals need to start using IBM Watson which would have taken all the symptoms and offered several possible causes. This patient got lucky -- others may not be so lucky without AI help in diagnosis and treatment.
1
"After reading Huls's note, May looked up Schnitzler's Syndrome. Doctor's description's of patient's with the disorder matched her patient exactly."...why isn't there a database with all diseases and their symptoms that can be matched to a patient's symptoms to find a likely diagnosis???
2
Best this is a good ad for Watson! as a medical diagnostician.
Evidenced based medicine. Wow, what an idea.
More easily implemented with Universal health for a much lower national health bill. Better outcomes too.
3
Thank you for this series Ms Sanders! It was one of your articles that led to a diagnosis of my own rare autoimmune disease. I had been to specialist after specialist, all who were puzzled by my odd set of symptoms, until the day I happened to see one of your articles in the NYTimes magazine. I took it to my family practitioner, who immediately grabbed his internal medicine textbook , and exclaimed "I need to send you to a rheumatologist!" She confirmed the diagnosis, and fortunately, my insurance has always paid for the biologic that keeps my disease in remission. Thank you! Here's the article, that changed my life- http://www.nytimes.com/2005/03/20/magazine/nocturnal-fever-swollen-lymph...
8
I LOVE these articles, they are full of inspiration and hope.
4
Besides the prolonged agony which resulted from this patient's misdiagnosis, the worst part of this story is that her insurance company refused to pay for the treatment that ultimately changed (and probably saved) her life. The state of health care in this country, one of the most prosperous in the world, is shockingly abysmal.
5
This indeed a fascinating article and a true medical mystery. As an 80 year old retired veterinarian I challenged myself to develop a differential diagnosis. In my provisional diagnosis, I got as far as an immune mediated disorder, particularly with the elevated IgM. All other symptoms were of widespread inflammatory response. Infection was the number one rule out; however, a literature search of syndromes with elevated IgM should have led to an earlier likely diagnosis.
I agree with Victor, my physician colleague and age cohort, that the drug company should not argue about the cost of the medication, even if it was an orphan drug and had very few patients needing its value. Some medication may not have an immediate usefulness, but may well have particular value in the future.
4
It's the kind of disease that Britain's fictional television-series Doc Martin would diagnose. Wonderful to see that there's a real Doc Martin, too.
1
Both of the Physicians here were Residernts in Training!
Residents often take more time because they’re still learning. Dr. May, training in Internal Medicine, started out by simply listening to the patient. Listening and thinking and continuing to follow up.
Dr. Huls, training in Pathology, became intrigued with the case, though he hadn’t even seen the patient! Which is typical for Pathologists, of course.
I’m not sure what the lesson is here, except that going to the Teaching Hospital made all the difference for this patient! Many times, in my small experience, it’s second opinions at a teaching hospital, the finally solve medical mysteries.
8
Medicine is an art and a science. When I was a post-doctoral fellow at Cormell Medical College I meet two individuals who had served as Chief Residents in Neurology. What was clear to me was that all the young MDs were smart and very hard working. What I gradually learned was if I had something wrong with me I wanted one of these two individuals who had been Chief Residents on my case. All the docs were smart but they seemed to have magic. OK, I know it wasn't magic but they were head and sholders above the rest of us. When you find those individuals in medicine or other fields hang with them. Good luck to Dr. Huls.
2
Dr. Huls is not just a doctor with a good heart, he's a scientist with a healthy curiousity. As a retired medical researcher, I know one when I see one. His work required both critical thinking skills and detective work - following clues and weighing the likelihood of one hunch being right over another. (Think Danny Reagan in Blue Bloods.) While he made use of the search engine PubMed, I doubt he followed an "algorithm" as a computer would (although the work he did may enable the development of an algorithm that could identify cases of this disease in the future).
3
Some of the commenters are talking about AI diagnostics. I don't think we need anything that sophisticated.
I have an 25-35 year old home health care book from a major medical center. At the front is a self diagnostic tool that starts with a main symptom. Then, you answer 'yes' or 'no' to move on to question after question. At the end, your 'yes' answers have led you to a possible diagnosis with a recommendation for home care or to see an MD.
I have often sat in a waiting room & wished the MD had a computerized tool to complete while sitting there & have a preliminary diagnosis ready to print out by the time I got to the doc after the nurse took pulse, BP & temp . Then, when the lab work comes back, enter that ...and, this lady would have had a diagnosis without having to wait years for a doctor with a mind like a computer.
It's the missing piece in the entire slap dash, different system at every different provider electronic medical record 'system'.
Appalling that the insurance company refused to pay for treatment. The US needs more patient friendly regulation of insurance company decision making.
3
It’s wonderful that there is a treatment. I’m so sorry it took so long to put it together. Thank goodness for the curiosity, caring and determination of Dr May and Dr Huls. May they have long and illustrious careers and May there be many more doctors like them.
As for the insurer—shame on them. Healthcare is about healing the sick. The insurer failed in this fundamental duty. Thank goodness that the manufacturer acted compassionately. People’s healthcare shouldn’t have to depend upon the kindness of strangers like this.
Here's an example of where a deep learning algorithm would have taken a few seconds what it took humans years to solve.
All of the diagnostic knowledge existed, and in digital form. Just not in one place, where it would be easily searchable and cross-referencable (I've spent a fair amount of time on the PubMed database ... it's no picnic finding the more obscure articles).
All of the patient's test results were also available ... but again, probably not in one place or easily cross-referenceable.
It just shouldn't have mattered that this was a rare disease. It wasn't so rare that we're without adequate diagnostic knowledge. It's a disease that doesn't seem to mimic anything else ... which should have made the diagnosis easier.
The patient was a victim of 1) lack of access, initially, to a teaching hospital where people know anything about anything; 2) lack of a well-organized, cross-referenceable, digital medical history; 3) inadequately organized, cross-referenceable research database; 4) cognitive biases / limitations of doctors, who leaned on what they already knew or had easy access to.
Decent AI, along with a much-improved medical history database, would solve all these problems.
I'm as scared as the next guy of all the ways our robot overlords might destroy us. But until that day comes, they can probably save a whole lot of us. And do it for cheap.
2
Wrong: to get good results from a computer you need to put in good information.
Simply putting stuff into a machine will get you a jumble out of it.
One has to know what all the data means, and be able to correlate and synthesize.
Someone took the time to really investigate this patients case. How tragic it is that the medical profession gives up so quickly on so many people.
1
Once again, the insurance companies are, in effect, prescribing treatment at the very real risk of harming patients - or even killing them. It is not about health care for them - it is about making money.
They really should stay in their lane.
1
An inspiring article. One caring, competent person can make all the difference. And, for me (who once lived in Alabama), especially moving.
I was treated for asthma for years, getting lung infections over and over again, until I was finally diagnosed with a rare genetic disease called Alpha-1 Antitrypsin Deficiency. There is treatment which involves a weekly or bi-weekly infusion. I lost about 50 percent of my lung capacity before this was stopped by the treatment. If asthma patients and people with COPD were routinely tested for Alpha 1 it might make a big difference in their lives.
2
A non-smoker with COPD in their 30s or 40s? Big red flag. Unresponsive severe asthma? Big red flag.
An asthmatic who responds to standard therapy, or sixty-something COPD patient with a 40 pack-year Camel history? Waste of money running the test.
1
Perseverance by a family member counted for much of the success in this diagnosis.
4
Kudos to Dr. Huls and all the dedicated, persistent doctors involved in arriving at the correct diagnosis and eventual cure. Worth noting, though, that effective treatment was not given to this woman for several months because of the prohibitive cost of the medication. Glad the drug company eventually did make it available to her, but this clearly points out another deep issue in US healthcare: a cure may be directly linked to your personal finances - the wealthy get well and the poor ...well....
1
Excellent work by the pathologist. All of which might have been undone by the for-profit insurance company that refused to pay for the drug that undoubtablely the pharmaceutical company sells for less in other countries. America needs single payer health care.
1
As a patient with an immune system disorder that defies accurate diagnosis I was very excited to read about a doctor who was able to piece these things together. I have seen & left many doctors who wanted to alleviate the symptoms of what I'm dealing with without addressing any of the causes. Doing this allows the roots of the issue to grow & the problems to expand.
The medical system treats diseases and not people. This may work when someone has an acute issue like a heart attack, but fails miserably when people have chronic ones. Our take 2 pills & a 3rd to counter the side effects of the first two approach to health is creating a populace that is not in touch with their bodies and not empowered to take responsibility for them.
We must create a food, good relationships, mindfulness, and kindness is medicine approach & the issue with doing that is that entire specialties within medicine would simply cease to be needed.
Why did the " insurance company refused to pay for the new and very expensive drug"?
1. not covered by policy
2. disagreed with diagnosis or probability of remedy working?
3. cost or
4. all of the above.
What is also lost in our medical system, is that we the customers pay through our premiums NOT the insurance company. Our doctor have the training and experience to make both the diagnosis and remedy. Having a for-profit company non-medical administrative employee following a script override our doctors is a perversion of a humane and quality health care system. Rejections create profit and job promotions.
3
A doctor once told me the following story: an elderly patient was inexplicably losing weight, running fevers, and clearly very ill. After zillions of tests, wxhich showed nothing, the doctor called a dentist friend and told him to pull all the man's teeth. The fevers stopped, the man gained weight, and lived another twenty years.
1
This may seem like a reach -- but this is such an uplifting and exciting article that it leads me to think again: our education system, starting with the youngest child, needs to be redesigned, to be based on real-life problem solving, on discovery, on exciting and excited critical and creative thinking skills, on exploration, on being the best genuine learner one can possibly be. Every child needs the opportunity to grow up becoming the kind of thinker and doer this exceptional doctor became.
1
I don't understand why the insurance company wouldn't pay for a recognized illness and a cure. It's shocking we live in a country where sick people cannot get the help that is out there but can't pay for it.
2
A great story, with a very happy ending.
By all means, if you are a patient or advocate for one, don’t give up easily.
By all means, if you are a doctor, keep trying to find the answers.
But, realize that, as Brecht said:
“…in real life the answer isn’t quite so fine.
Victorious messenger does not come riding often…”
That is, in most cases, particularly as we get quite advanced in age, there will not be a rare and treatable disease to explain a variety of symptoms. There will be, in fact, a variety of relatively untreatable or minimally controllable problems. And sadly, some of us will suffer from excessive attempts to fix things unfixable, or delay the inevitable.
Finding the balance is sometimes quite hard.
2
Why did the insurance refuse to pay? Is it that she was not covered for medications? It reads as if insurance companies are not obliged to pay, which makes no sense. The story leaves this as a criticism - the reason should be there.
2
So we don't know what causes Schnitzler's Syndrome in the first place, do we? An undetected parasite? We have seen worms in stomachs, worms in eyes, and there are probably worms somewhere else.
It seems symptoms are treated, but not the disease.
1
Funny, funny stuff. Reminds me of the despicable cancer quack, Hulda Clark, who ascribed all cancers (that's right, all of them) to the actions of the liver fluke. Clark then died of myeloma, thus proving what a total quack she was.
1
We have the computing power and human know-how to develop diagnostic software to do what Dr. Huls accomplished by dint of will and caring.
It amazes me that doctors can't just plug in all the symptoms and labwork and get their computers to spit out the most likely diagnoses.
Why should people have to suffer needlessly wandering from specialist to specialist undergoing a multiplicity of tests for years?
We don't need to wait for AI nor fret away about loss of privacy nor wait for a Watson-level computer. The future is now, but apparently you have to package it so it can make enough dollars to justify building it.
1
Finally something positive in the news. We need think tanks of people like this doc to go over cases, mine the internet and work with docs who are stumped after they try all obvious tests. This should happen much sooner. Patients should not be left to suffer for 10 years of medical floundering. Insurers-why don't you use this as an innovative idea that will save you money but will actually help patients, too?
Some very old adages in the art (please note the word) and science of medicine:
1. Common things are common, and uncommon things are uncommon
2. When you hear hoof beats, think horses, not zebras. But always consider zebras.
3. When in doubt always send a patient to an academic center where there are regularly scheduled meetings of various disciplines and specialties held to discuss and brainstorm unusual cases. You'll almost always get the answer.
Disclaimer: I am a clinical professor of dermatology at U. of Penn, and was in private practice for 40+ years.
3
There really is a Dr. House....but he goes by the name Huls.
God bless him.
3
I think there should be a new specialty: Medical Mysteries. This would be someone you go to when others have failed and this specialist figures it out like Dr. Huls.
I suspect that certain medical students would be delighted to specialize in medical mysteries...
2
I had a mysterious ailment from 1993-97, resembling claudication --leg numbness, paresthesia, difficulty standing or walking -- which was undiagnosed by several varieties of specialist. So in 1994 I tired of falling down during my lectures, and at 60 gave up, and I retired from university teaching. Then, in 1997, I had an esophageal bleed which put me in a hospital for a few days. An intern there reviewed my tests and suspected a relatively rare parathyroid deficiency, which he confirmed by some additional tests. Sso he gave me calcitriol, a form of Vitamin D. In 48 hours my "claudication" had cleared up and has remained under control ever since.
And the young intern who saved me: I tried to thank him shortly afterwards but found that he had been fired. Probably because he took it upon himself to diagnose and cure me. Wish I knew his name.
7
As many have pointed out, there is no substitute for a good doctor, but your insurance company (or lack of one) makes the ultimate decision about how or if you get treatment. This story is about good luck with an insurance company as much as it is a story about a good doctor, and this one has a happy ending, but plenty of people who have health problems that are no mystery at all are going without treatment for lack of a cooperative insurance company. Chronic Lyme disease is not uncommon, but no matter how good one's doctor is, the outcome is determined by one's ability to pay - more often than not, insurance companies will not cover the treatment.
3
This is a horrible example of all that is wrong with medicine, because doctors are stuck in the past.
Making a patient go from hospital to hospital, specialist to specialist, and have doctors having hallway conversations with colleagues to try to come up with a diagnosis.
The diagnosis was in the data all along. From the first blood test with IgM and a description of the symptoms.
All we needed is for the first contact physician to enter the symptoms and blood test results to an AI tool like IBM Watson, and the possible diagnosis would be there.
It is criminal how much pain and suffering is inflicted by the medical profession, because they are stuck in the past and want to preserve their status.
The fact of the matter is there we need the collective accumulated knowledge of medicine at the fingertips of every provider (nurses, PAs, doctors, health coordinators) and patient, in an AI system that we can all benefit from.
I just did a google search on "Elevated IgM diagnosis" and the first article linked, explicitly talks about the possibility of Schnitzler syndrome". Medicine needs to get out of the dark ages.
2
The 'insurance' (not) company should be fined and the executives fired.
The doctors used in the 'decision' to not insure should be sued for malpractice and removed from active medical practice.
Only when regulators get tough with 'insurance' companies can medical insurance serve it's intended purpose; TO PAY FOR MEDICAL SERVICES NEEDED BY THE INSURED.
5
This article would have been more interesting if there had been some discussion of the physiology of the disease, as Dr. Sanders usually does. In one part, she notes that the syndrome is not well understood, but then states (and narratively demonstrates) that a new treatment resolves the symptoms very effectively. If there's an effective treatment, then there must be some more understanding of the condition than Dr. Sanders suggests. It would have been interesting to read about it.
1
https://en.m.wikipedia.org/wiki/Schnitzler_syndrome
Great, but, a couple of things. First of all, of course, what is this crapolo about insurance not paying for it, and therefore extra months being needed? Awful.
Plus, this thing -- a little thing in the big picture of this situation but a real problem in principle, and as a physician myself, I can only shake my head at it: When a consulting doctor comes up with something so significant, shouldn't he tell somebody about it, not just write a note that one of the other providers may or may not discover some time later? (The answer is yes.) Great what the pathology resident did -- but it's odd, and incomprehensible, that the information wasn't gotten to Dr. May more directly and promptly.
4
Thank goodness for Dr. Forest Huls, the pathology resident. I'm glad to hear about the PubMed database, and I hope it continues to improve and become more accessible. For a long time, I have wondered why in the 21st century we are still relying on our individual doctor's experience when we should be developing software to consider unusual combinations of symptoms, etc. When it comes to the rare, one-in-ten-million diseases, it's unreasonable to expect a doctor to recognize symptoms, add them all up and come up with a diagnosis unassisted. Far better to plug all the patient's data into the computer and see if it comes up with something we haven't considered.
3
At a recent follow-up for a bone density exam which showed osteoporosis, I asked the NP to search for changes in my height over the past decade. She explained that their new electronic records went back only 3 years and she was not allowed access to data from the previous electronic system the office had used! I've been using this clinic for 14 years and thought such information could be valuable in helping me address my problem. Electronic records are no help when they're not available to review, compare and analyze. In this case, Dr Huls, the doc who solved the mystery illness, had the benefit of finding records in "an old electronic warehouse" which helped solve the puzzle.
2
Dr. Huls is hopefully the future of medicine, but just as valuable are our electronic databases. I just used Google scholar, and searched for a combination of "IgM fever hives vomiting", and not too far down the list was an article on Schnitzler's syndrome. Perhaps we ought to teach the utlliity of search engines in clinical medicine to all medical students.
2
I too did that and put in: Episodic fever, chills, bone pain and the #4 hit was for Schnitzler syndrome. No, not a medical database but when something strange is going on and no one can figure it out, nothing wrong with using good old Google!
Dr. Huls and Dr. May - way to go! Please keep this level of intrigue, determination and desire to help throughout your careers. I had a similar experience of immune system symptoms that were brushed off as another diagnosis, but I was made to feel that I was simply drug seeking. After visiting my PCP 4 times in 6 weeks, I was relegated to the medical student. This felt insulting at first but ultimately SHE figured it out. She took copious notes, listened sincerely to me, and by representing my presentation to the PCP, my diagnosis of Polymyalgia Rheumatica was finally figured it out. Thank God for her.
4
I hope that Dr. Huls continues on his trajectory of diagnosing difficult cases. We need more doctors like him. Thank you!
2
It's no wonder it took so long to diagnose the patient in this story. Doctors see patients for around 10 minutes. There's no time to get to know a patient's history or to really delve into symptoms. Health care is cursory and slap-dash in many clinics. Doctors are under a lot of pressure to see as many patients as they can in a day. No wonder patients are left untreated or are treated for the wrong illness. Few doctors are capable or or willing to put in hours of researching a patient's medical record and reading up on obscure diseases to find a match. That Dr. Huls was willing to do this is remarkable.
4
Kudos to all for this impressive accomplishment, but I'd like to know which pharmaceutical company finally gave in and offered treatment to this patient -- I'll send them a "thank you, job well done" card. Big Pharma's goal is making money, and orphan diseases are never profitable. I hope the day will come when Big Parma's and Big Medicine's focus will change from getting rich to serving the needs of humanity. Note that orphan diseases (defined as affecting fewer than 200,000 people nationwide) include cystic fibrosis, Lou Gehrig's disease, Tourette's syndrome, and acromegaly.
2
I'm astonished that Dr. Huls had to 'search a database' to find a disease matching these symptoms. Is it possible that doctors still do not use expert systems (AI) as an aid in diagnosis? There are simply too many known (and often rare) illnesses to expect a doctor to perform a differential diagnosis relying only on his or her brain. The first doctor to see this patient should have identified the problem with computer assistance. Many patients with difficult to diagnose illnesses suffer needlessly because their doctors do not see the benefits of computer assisted diagnosis.
3
Another sad case of doctors being stumped because they can't find a cause. There is a set group of tests they do, no matter what. I guess no diagnosis is better than being mis-diagnosed.
In my career in IT, although I know is a much more limited science, when a problem gets more stubborn, it is time to go back to the beginning and really start questioning things that you thought were a given.
Basically, anything out of the ordinary requires some one person who can diagnose more rare things. Then the other doctors must agree to treat.
I'm glad this case worked out and someone got their life back. I would, say there are probably hundreds of others who were left to suffer and die.
1
One more health insurance horror story. The database PubMed sounds like it was great lifesaver. Sadly, database information is not always as effective in other tasks. Because the health insurance market is so limited, using a public database of insurance company satisfaction provided me with only bad options in choosing an insurance provider. The shame-avoidance motivation remains elusive in the insurance industry. Still, I wish the insurance company name had been mentioned in the article.
My sister spent eight years going to different dermatologists in rural Iowa and Des Moines and getting multiple biopsies -- all benign -- for a rash on her lower leg. It was only when she needed knee surgery and was denied because of the rash that she went to the University of Iowa, a teaching hospital. A young doctor correctly diagnosed athletes foot -- rare, but it can occur on the leg. It cleared up quickly with an over the counter preparation. Why didn't these earlier doctors know this? Do they not keep up?
2
I have had many of the same symptoms though not as extreme. I have attributed the fever-chills to an allergic reaction to aspirin; the lack of energy to just my genetic make-up; the skin sensitive to rashes - especially my palms - to a sensitivity to chemicals and friction; my aches and pains to aging; elevated bilirubin attributed to genetic; and a tendency to flue like symptoms that I used to get more regularly but rarely so now as who knows what allergic sinus condition like reaction. Other then that I am in great health.
Dr. Gregory House would be proud of these 2 doctors! They both like to solve problems & didn't give up. Many doctors are not good problem solvers. They're smart and have excellent memories (otherwise would be hard to get thru medical school), but that does not make them good problem solvers. As others have noted, with AI we should be doing a better job at diagnosing tough cases ..... so, what if people who aren't doctors but who are computer savvy and love to tackle tough problems became part of the medical community?
1
Let's pause to reflect on the fact that the woman had insurance, for all the good it did her. Yes, the pharmaceutical company finally provided compassion care by giving her the medication, but she waited months in pain for it to be approved.
Neither an insurance company nor a pharmaceutical company's "tender mercies" should be required to get care. Medical care is something we all need. This is a human right, not another profit taking event.
4
I'm perplexed about the insurance. At 68, wouldn't her insurance be Medicare, and if they wouldn't pay, is there no appeal process? Thanks to the drug manufacturer, and I'd like to know who that is. Do they make OTC products that I might buy because I want to patronize companies that do the right thing.
As a retired physician I was inspired by the dedication of May and Dr Huls. It has long been recognized that cognitive work of this sort is scarcely compensated for by our current reimbursement system. I am sure that freezing off a few premalignant skin lesions in 5 minutes would receive far higher remuneration than the hours of effort expended by the good doctors in this story. Most internists have to work long, grueling days to keep their practices viable. To expect them to put in large amounts of extra hours of this sort is unrealistic. It is important to note that these two wonderful young doctors were still residents working for a salary,
relieved of the burdens of compensation. This is just one of the many important takeaways from this fascinating article. I'm not Jewish, but they deserve a resounding mazel tov!
5
Increasingly, patients are given the "wrong" diagnosis
Many medical symptoms mimic different conditions and diseases. Yet, on average, doctors only spend 7 minutes with their patients.
Testing is expensive: Insurance companies may not pay for them or the patient may be left with huge co-payments.
And, some patients are viewed to a hypochondriac if they continually complain of symptoms but no diagnosis can be made.
A medical diagnosis requires good listening skills, investigative curiosity and patience.
Sadly, for some doctors, treating patients is a business rather than a profession.
She was very fortunate indeed. At 67 my mother fell ill with another rare autoimmune disorder called Wegener's Disease but by the time they figured it out she was at death’s door. She only lived for two weeks after her diagnosis.
1
All doctors need to be this thorough. I'm in Canada, where doctor visits are covered, however, in my experience, many of them are more concerned about billing than patient health. I've brought studies to my MD only to have her behave in a dismissive manner. It tooks me more than 3 years to get a correct diagnosis for my condition -- it should not have taken that long. It was only because I persisted and demanded referrals to specialists that I was eventually diagnosed correctly. Lazy doctors -- remember your hypocratic oath (in other words, don't become a hypocrit!). Patient care needs to be your priority, not how much you can bill the government for your time!
1
Kudos to Dr. Huls. Finding the answer to a mystery often boils down to discovering the right search terms in a database. Because the syndrome is rare and unusual, the symptoms are going to reveal more common problems first. Dr. Huls kept going and it is to his credit that he kept reading and searching. I am familiar with the hunt for the less obvious and sometimes one finds a lead even in footnotes, but ultimately it is the relevant search term that coughs up the truth. Well done!
Let's note two very important things: first, someone took the time to listen and to collect all the data. Who has time for this anymore? We MUST have the time, but the current economic system doesn't allow it. Second, the insurance company delayed her treatment by MONTHS. MONTHS! We must linger of this fact of abuse. We doctors know how much of the doctor's unreimbursed time went to fighting with the insurance company. We know how badly the patient felt until she got the treatment she needed. Our broken system could have killed her and probably nearly did.
100
How about noting each symptoms with one word or 2 as they are reported at each visit on a single page that summarize the rest of the several charts the patient undoubtedly accumulated. That wouldn't take more of the doctor's time. As for the system, isn't it time to extend a Medicare type system to all? The US ranks about 50 by countries in life expectancy. Canada for instance ranks 12th.
Ellen-- Solution: Medicare for ALL. (And assistance in paying for medical training.) NOT more military equipment, and more war, around the globe.
4
"The insurance company delayed her treatment by MONTHS."
Absolutely. Spoils the feel-good story a bit, doesn't it?
3
Huls is a dream come true in a physician--kudos to those who really care.
33
Replying to CS's comment and others, before and after: Huls AND May are a dream come true. In fact, it's the other way around May, then Huls, are heroes: were it not for Dr May's initial listening, painstaking data collection and dedication, there'd be NO brilliant diagnosis and no story. And the patient would still be miserable, which she must have been a little less knowing a doctor had her back, even if there hadn't been a happy ending. Kudos to Dr May for truly caring.
2
It was Dr May and Dr Huls.
It is inspiring to hear about doctors so dedicated to healing. As for the insurance companies who refuse to cover medicine to cure the suffering patient, unethical and callous at best.
36
Medicine is a crude science. Most of what we do is guess work. The body is incredibly complex. Most improvements are orchestrated by the body itself, spontaneous remission.
9
For-profit insurance is terrific for healthy investors and a cruel travesty for sick people--especially poor sick people.
How do the execs of these companies and the investors who pay them upwards of $17 million per year look at themselves in the mirror? They justify denial-of-service based on their fanatic belief in the religion of capitalism.
49
They answer to their shareholders. That is all.
1
Did you intend to write $17 BILLION, instead of "$17 million"?
They look in the mirror with enthusiasm and think how fabulous they are. The standard is wealth. They’re outstandingly wealthy; they’re outstandingly fabulous! Woman debilitated by illness... what? I can’t hear you over the sound of my own fabulousness.
1
This is a perfect reminder for healthcare professionals--when in doubt, look into autoimmune diseases. I developed juvenile RA in early childhood and was misdiagnosed by my pediatrician. My parents took it upon themselves to dig deeper, found a great rheumatologist, and got a diagnosis.
14
A good point, but Schnitzler syndrome is not an autoimmune disease - it is an auto inflammatory disease (a class which is rather less understood)
2
Of course, the great majority of doctors are not like either of these two doctors who are written about in this article. That is too bad for so many reasons. But I would think that a lack of time in the various institutions for whom they work is the biggest reason that doctors today can't look into problematic symptoms that don't fit into any known disease category. Then, thinking they will have more time if they start their own practice, they do. Unfortunately then, they discover that in order to pay-off their student loans and current expenses, they must see so many patients per hour. By the time they get done for the day, the insurance companies require a soul-sucking amount of paperwork for payments, so that must be done. In addition, there are other categories of paperwork that has to be done like: prior authorizations for prescriptions, letters/reports for patients applying for public programs like Medicare/Disability, etc, and I'm sure other requirements about which I don't even know about. And family? Don't even think about it!! So, as far as investigating unknown symptoms, it is a really special person who is able to do this. My hat is off to them!!
32
"When the woman's insurance company refused to pay for the new and very expensive drug..." "
"...May appealed to the manufacturer, which agreed, after several months, to provide it."
These two scenarios never, ever get old (yes, snark). In other words, after literally years of this woman's life have been not only wasted, but lived through with extreme pain, depression, and discomfort, the patient is deemed unworthy of the remedy because of cost?
I'm so relieved so many medical workers enter their profession altruistically, but it is well past time for the U.S. health system to change.
58
Well past time for the insurance scheme to change. It is long past time to get those companies out of health care. Dare I say universal coverage?
4
Also, this woman has made years of premium payments to that insurance company, no? The idea is that we all pay in, and some need more than others. When profit is the main goal of a company with power over peoples' lives, that's wrong.
"Pay us what we demand, every month for years, and when you need help, we'll decide IF you get it."
And it took her months of arguing to get it. It's disgusting. And those against universal healthcare argue about cost.....
2
And the patient’s insurance non approved payment for medication....
Truth of that is, that non approval decision was probably made by a high school graduate with no further education and no medical experience who got the claim, and was just following the company’s rules and policies.
That goes on, folks.
26
Many if not most of the claims people are college graduates, but with no specific knowledge that qualifies them for their particular job.
1
Kudos to Dr Huls.
Talk about being at it and not letting go.
Another good story about medical mysteries.
I wish a data company like Google with many things they provide for free - would make this type of data base - perhaps in slim down versions available to all.
I am currently living in India for the winter.
Know of many Indians here who constantly complain of years old symptoms and no one investigates.
Of course, there is a slight cultural aspect of not challenging an authority or a doctor - but still ,if it helps just one patient, worth it.
Will Do no harm - as they always say.
7
I'm proud that software made the diagnosis easy. Didn't even need artificial intelligence.
Software. Data mining. Learn it. Use it. He useful.
9
That approach would produce two outcomes immediately: (1) diagnosing the problem quickly -- and thereby cutting short symptom relief treatments; and (2) informing the patient of the cause of illness, that it was treatable, but extremely expensive and not covered by insurance. A holistic approach is needed for healthcare, not more beeping machines that speed the churn.
The time and effort Dr. Huls demonstrated is inspiring and laudatory. An 11-page note, summarizing his hypothesis and evidence? What a dedicated and good-spirited person Dr. Forest Huls is, to both lever his medical training and take the time to improve a suffering person's life.
The Genetic and Rare Diseases Center, part of the National Institutes of Health, may be of interest to people with an undiagnosed condition. Thanks for this fascinating article. https://rarediseases.info.nih.gov/guides/pages/24/tips-for-the-undiagnosed
36
It was Dr May and Dr Huls who got the job done. It took both of them to get this result for the patient.
2
Was that the punch line, mysterious illness solved after years but insurance company refuses to pay for medication? What a sick joke.
32
In 'insurance' parlance - paying a claim is called a LOSS.
If they were to call it 'service' things could change./
I'm curious if the 68 year old woman's "insurance company would not pay" was Medicare?
25
Insurance companies pay the Medicare bills. They often refuse to pay for things the dr. prescribes. Time to get them out.
2
Drugs are paid under Medicare Part D. That is a private plan. As a Medicare eligible person, one must sign up for a Part D. plan and pay for it.
In this diagnosis story, a search is begun for the most obvious causes of the illness. If a patient displaying symptoms with illness A matches the symptoms enumerated and demarcated as occurring with illness A, then the medical authorities are in agreement that "it must be illness A."
The {subset of symptoms} for illness A contains symptoms such as: {a,b,c,d,e,f,g,...}; and the closer the match, the better the diagnosis.
The artificial intelligence used to diagnose illness A may work in a similar manner. A series of preferred chips is given primary voting power in this initial diagnosis. These primary chips vote their chips like classes of common stock. Next, secondary shares farther out in the neural network vote their shares based on the information these secondary chips have gleaned. And, then a third layer of chips, etc.
The key points to integrating AI into this complex medical decision-making system may include (often as overlaps):
1) A system of prioritization (triage) is used in these complex programming decisions.
2) Each decision-making tier in the network has a number of votes to cast on the decision; based on its prioritization or importance, and place in the network.
3)The amount of exposure of the program to medical diagnostic data and the exceptions elucidated by these data points are vital to precise diagnoses. As in language translation, more exposure is better.
4)The cloud system seems designed for this process.
[F 02/16/2018 11:49 am Greenville NC]
1
Here's my weird story. Vomiting (severe), diarrhea, massive bloating for months. My dr sent me for ultrasound. I went to a GI specialist who did a colonoscopy and endoscopy. I had a jillion tests. I was told I had small intestine bacterial overgrowth. Spent $400 out of pocket for a 2 week supply medication that did nothing. I was told I would need to take it for at least 3 months. I told the dr my monthly budget couldn't meet that. I was told I had chronic pancreatitis. Enzymes were prescribed -- $400 a month. I said no, that's not in the budget. I took enzymes from an herbal site.
This "illness" was about to enter the 4th month when filling my weekly medicine holder, I noticed one medication was running out, so I poured the pills in my hand to count them. That's when I realised there were two different kinds of pills in there. CVS had made a serious medication error I don't know how many of my 3 month supply of pills were the wrong med but the med accidentally put in my pill bottle was Fiorinal. I immediately took one and 2 hours later had severe vomiting. Thanks, CVS for three months of hell & thousand of dollars in tests.
11
Why did the patient have to suffer for a decade to find a doctor who was willing to spend a few hours to actually do some research? Keyword search in an online database is not some amazing skill only rarely gifted, special individuals can master.
17
Like a good mystery novel: the investigator persists until all the pieces fit. Well done, Dr. Huls!
8
I was sick for thirty years with an array of symptoms including bacterial pneumonia (several times a years,) exhaustion, memory loss, brain fog, arthritis, swollen lymph nodes in my neck, hives, digestive, hormonal and liver issues to name a few. I always seemed to be sick. Finally doctors diagnosed me with Chronic Fatigue Syndrome (another way of saying we have no idea what's wrong). I spent thirty years studying natural health and healing, nutrition and stress management. My journey led me to a biological dentist who was able to tell me that I had cavitations-infected holes in my jawbone from my 4 wisdom teeth extractions and 2 root canals (I began fainting and damaged the 2 teeth). I underwent 3 surgeries to clean out the cavitations to allow the jawbone to heal. We found a surgical dressing (tetracycline powder in a petroleum-based carrier)in 2 of the cavitations that created a "foreign-body giant cell reaction." The socket was spewing when we opened it up. With each surgery a group of my symptoms disappeared while in the dental chair! The biological dentist biopsied the sites and I received a comprehensive report of the bacteria in each socket from DNA Connextions. I was able to piece together my entire health history from those reports, which I wrote about in my book, "At The Root." Doctors and dentists don't consider the mouth as a root cause of illness. Dr. Voll, a German physician, after 40 years of research, concluded 80% of illness is related to the mouth.
39
With all due respect, the last sentence is not true
15
Dental care is not only for aesthetic purposes. The mouth provides signals of general health disorders. Mouth lesions may be the first signs of HIV infection, pale and bleeding gums can be a marker for blood disorders, bone loss in the lower jaw can be an early indicator of skeletal osteoporosis, and changes in tooth appearance can indicate bulimia or anorexia. Besides, bacterial infection from a tooth abscess can be incredibly dangerous if it spreads to your jaw, neck, or brain, or if you develop sepsis, which is a life-threatening infection that spreads through your body. The mouth and body are integral to each other, even if 80% of the diseases don’t start in the mouth.
1
I'm not the only one who saw the similarity to the TV show "House". I wonder how many of the doctors involved in this case watched that show, or, God forbid, were inspired by it. It seems that the man who plays a doctor on TV, and the script writers, have taught them the art of diagnosis. This accounting sure reads like one of those TV episodes.
The author didn't mention how much money each consult made from this case. It appears that 'medical science', uh, I mean, the medical industry, collectively made quite a bit of money from this brain teaser.
3
Hooray for Huls. Here's hoping some Institute snaps him up.
28
In this terrific article we have the best and worst of health care in America. A patient with a very rare disease is helped by two wonderful doctors, who clearly go way above the new normal of 15 minute doctor visits. And the "evil" (read: greedy) insurance and drug companies who put profits before patients. Shame on them.
32
Good post Eric. My advice from experience is, when a patient enters what I call the Vortex of the Health Care system, be as involved as you possibly can. Why, so you can ask intelligent questions, forcing a Physician to at least respond. Most of the time, because of the 15 minute time allocation, much of what can be helpful, is never discussed or even what a Physician is thinking. As in, should I seek alternative care, as in for starters get, a second opinion?
People like Dr Forest Huls are the reason why I want to go into medicine
375
Hopefully you will have two hours to dedicate to one patient but that wouldn’t be likely given the current state of American health care. This poor woman suffered for years and spent hundreds of hours in the system before she received two hours of concentrated care.
11
For further inspiration, check this out:
https://www.nytimes.com/2018/02/02/obituaries/dr-arnold-gold-92-dies-mad...
Note that this doctor was inspired by Sinclair Lewis's excellent novel, "Arrowsmith." Worth reading and so relevant today.
Good luck! I hope you make it into medicine, as we all need you.
1
There should be many more like yourself who want to take on medicine and spend the years to become a doctor for the right reasons.
1
Why was the woman's insurance company not named?
21
You know very well why; because if you do that you will get sued. The commercialized medical insurance business practice is more rich-making than doctoring - But naming and shaming the insurance companies invokes yet another rich-making profession; lawyering.
In the US it is open season on clients, with whom, of course, I include patients.
13
It almost certainly was Medicare [unless the woman had some retirement plan benefit] fronted by any number of 'insurance' companies for managing - and skimming premiums.
When a friend had a similarly mystifying condition that was called "idiopathic," I mentioned it to my brother, an MD, who said that idiopathic means that the doctor is an idiot, and the patient is pathetic.
22
Why are you blaming the patient?
1
I assume Huls is pronounced House.
4
May and Huls, heroes!
11
Since this syndrome is so rare that all those doctors had never heard of it, it seems surprising that a drug exists for it--and works. Maybe the manufacturer was just glad to find somebody to use the stuff up. But the insurance company that denied coverage should be shut down. I fear that this kind of thing is going to explode in the near future.
13
At age 68, the most likely "insurance company" was Medicare. They deny things just as the private insurers do.
As for Medicare...1) it is great to have reached 65 and have an insurance company which has to insure you
2) "Single pay" advocates want all the advantages of being insured by Medicare without having to pay into the pool for 30-45 years while you are working, with zero insurance from Medicare, to finally get it. That's the misunderstanding of "Medicare for all"...give me all the benefits without me having to pay for them.
3) Medicare will not pay for many drugs, just as private insurance companies. They also substitute cheaper generic drugs for some brands..when the generic is in some caeses less effective.
4) Medicare pays doctors so little that many doctors either will not see any Medicare patients, or will restrict the number they see, as the reimbursement is often below the doctor's overhead costs for time spent.
Congratulations to the Pathology resident (and the internal medicine resident, as well). This is a spectacular diagnostic coup. And, contrary to many posters here, you just can't plug these symptoms into computer and come up with the diagnosis.
6
The UNDERLYING reason is that we as a nation think that all 'pain' is bad. We overuse the sickness care system, That is why costs are high. The AMA is responsible for limiting the number of MDs so prices dont fall. Maybe H1B for docs is needed.
1
What solved this case, quite simply, was curiosity.
13
Commending Dr. Forest Huls!
8
Great case!
4
Many commenters are bringing up how shameful it is that the insurance company denied her claim. Our insurance system in the U.S. is undoubtedly screwed up, but I'd like to pose the question for those more knowledgeable than I am (and as food for thought for the rest of us): how would the single-payer systems of the world deal with this?
It looks like the drug used in this case is Anakinra, which is typically used to treat rheumatoid arthritis. Off-label uses of drugs - those applications not confirmed to be an effective treatment for a given illness by the FDA (or a country's regulatory agency) - are frequently not covered by insurance. This makes sense: you typically want to vigorously prove a drug's safe and effective use on patients before spending thousands of dollars on treatment.
Since Schnitzler Syndrome is so rare and its treatment by Anakinra has only been confirmed by case studies (as opposed to trials), its surely an off-label use. I would hope that in the most effective single-payer healthcare systems of the world, doctors could write to the FDA (or whomever is regulating pharmaceuticals), and best case, have treatment approved within a matter of months. Is this true? Is it possible the applicant would still get denied? I don't know the answer to these questions, but these seem like things we'll have to address if we ever get the single-payer system this country desperately needs.
12
In countries that have single payer systems, the government negotiate with the drug providers on price on the basis of a cost/benefit calculation. If the provider's drug doesn't meet the criteria, it's not approved, and the patient would have to negotiate to buy it privately, as is the case when an instance company in the US won't pay for a drug.
The big difference is that the negotiating position of a government on price is much stronger than any individual insurance company could hope to have, since they are the gatekeeper for the drug finding a mass market in that country. You might be surprised to find out how much less drug companies are willing to sell the same drugs overseas compared to what they charge the domestic market.
Of course, in the US, the government is prevented by law from negotiating price with drug companies - lobbying and campaign contributions clearly pay dividends.
9
Another possibility in a person with a monoclonal IgM spike is Waldenstrom's Primary Macroglobulinemia.
6
The article does not mention monoclonal spike, just elevated IgM.
1
I wish the drug company had been named. I think some people here would have like to send them some messages. Shame on them!
5
Oops, I meant the insurance company, not the drug company.
2
‘Huls hadn’t heard of Schnitzler syndrome, either. He came upon it by using the database PubMed to look for a disease that matched the patient’s symptoms. ‘
Gee, what an idea. Too bad all her other doctors didn’t think of that. And they scoff at us patients for referring to MedLine.
14
The diligent work of the resident is commendable! A true puzzle solver!
What is despicable here, is that there is a treatment for this suffering woman's illness and her insurance company refused to pay it. That the patient had to suffer for months, AFTER the diagnosis, to get treatment is unconscionable. What a nation are we!
10
Isn't it encouraging that, in all of the medical industrial complex in the United States of America, there is at least one person who can connect the dots.
3
The AMA does not want a computer system for making diagnosis!
2
Why does the article spend so much time talking about the woman internist? She spent seven months and came up with nothing. Some guy comes in the room, sees the symptoms and does the hard work of matching them to a database that calls out the precise problem in what seems like one day based on the information given. Her hard work was admirable, but ineffective. The article should have been about Doctor Huls and his efforts.
12
I disagree. Dr. May was persistent, and her persistence, despite not having found an answer, may have been what attracted Dr. Hul''s attention to the case. A team approach, in effect: what a novel idea! As a resident of Birmingham and a beneficiary of UAB's wonderful medical resources, I'm glad to see the institution garner some attention. Too bad our health care "system" (more accurately, our lack of system) denies many folks access to those resources. Fee for service medicine and the high administrative costs of multiple private insurance payers result in tremendous waste.
1
Dr May was only in her 2cd year of training. This means she was just a year post medical school. Not sure about Dr Huls as I am not familiar with Pathology training.
1
Wow, Dr. Huls--to take this time and initiative! When do you see this, persistent research and consideration? If only the system didn't wear this out of the more established doctors.
4
The University of Alabama at Birmingham is its own institution aside of the University of Alabama. We are not known by the same logos, teams, or curriculum. Therefore, the hospital attached to UAB is not a part of University of Alabama. The writing of the name of the hospital implies such things.
5
With the elevated white blood cell count, (what was the differential?), the swollen lymph glands, hives and the elevated IgM why didn't Dr. May refer her to an immunologist? Duh.
3
Shame on the insurance company for being happy to leave her sick and untreated.
8
One key piece of info is missing from this article--the name of the insurance company that refused treatment. The public has a right to know the identity of any insurance company that will sentence patients to death to enhance the bottom line. Any company that would maltreat a patient this way has no right to anonymity.
8
I hope that resident goes into academic medicine, because he undoubtedly can make a real impact on the training of many docs and on case reports in the medical literature.
3
It is absolutely appalling that an insurance company allowed this woman to suffer. Aetna is being sued in CA and during a testimony an Aetna doctor revealed that he did NOT review patient records when denying coverage for a drug but rather relied on what nurses told him to do.
I had Aetna for two months. An expensive individual policy. The second month they denied four of my daily prescriptions stating that the first month refills were "courtesy refills only." For arthritis, Aetnas denied my generic Celebrex (celecoxib) and insisted that I try Naproxen or Maloxacam which if they had reviewed my records they would find that aspirin based does not work with reflux disease and that those had already been tried. My co-pay was $70/month for celecoxib and CVS charged $92 so I just bought it myself. They also denied Lialda for colitis for which there is no generic. I paid the $462 out of pocket for the month until I was accepted at another insurance company. They denied Symbicort for obstructed breathing and suggested I take xxxxxx which is only suitable for asthma which I did NOT have. They denied another medication, the name of which I can't remember. These insurance companies should not be allowed to get away with this.
Trump's new strategy for reducing drug costs is to lower the requirement of offering two drugs for every category down to one. There goes choice. I hope these dishonest responsible parties are judged harshly some day.
8
Ad for Costco -- their RETAIL prices are often less than insurance co-pays.
Wife of subscriber. Louise. Here's hoping that Huls teaches others to be a medical detective. That's what it took to diagnose the Schnitzler syndrome. Amazing, and simple. That's the magic.
2
Not to take anything away from the doctor who solved the case but doing a google search using the words "IgM" and "hives" results in the first several hits being detailed descriptions of Schnitzler syndrome.
6
wow - great work.
reminds me of when my partner got ciguatera poisoning from eating Spanish Mackerel fish - I read in the newspaper that maybe 9 people had been hospitalized with it after eating fish sold illegally from a sunken atomic waste area.
in the hospital the doctors said there was no cure - but my partner was suffering agonising full body muscle cramps. I went to the National Library and researched ciguatera in the Medical journals - and found one article saying a doctor had tried mannitol infusion with success.
I came back to the hospital and informed the resident doctor who said he'd have a look at it - half and hour later he came back and said he was willing to try it - they injected some into her veins - and 30 seconds later my partner was fine - pain was gone - like that.
I've since read it doesn't work for everyone - or maybe even most - but the stars were aligned and that bit of research fixed the problem - from agonizing pain which was horrible to watch - to gone in thirty seconds.
7
"Searching PubMed..." -- seriously? This is the climax? That's not even a well-organized database for diagnoses. I shudder. We need to stop glorifying individuals and recognizing the limits of medical education, and we need to start relying on proper statistics, coupled with decent EMR. Other countries are way ahead of the U.S. in this regard. Modern medicine can be such an intellectual and ethical embarrassment.
3
Welcome to how things really work. This article says nothing about the crowdsourcing that goes on every day when patients and their families have to find things on the internet to tell our busy GPs about and ask them to consider as info to help a patient. There is a big flaw in the system right there. Or maybe a strength... Our system is not build on collaborative traditions-how do we do that better?
1
Why not provide both the cost of the treatment, the name the insurance company and did my tax dollars pay for the drug? 3 quantitative pieces of information that are all a part of the story. I'm sure if the insurer had willingly covered an extreme cost they would have been mentioned by name. NYT, please improve your research and publishing standards.
2
I'm trying to understand how a 'rare and poorly understood immune disorder' that no one's heard of has a shelf-ready medication...?
4
Many different autoimmune disorders (even rare ones) have final common pathways that many different approved drugs can have a direct impact on, even if the disease is an orphan one (i.e. the drug wasn't designed for this condition, but still works to treat it). I'm guessing that we're talking about a TNFa inhibitor (etanercept) here, or an IL-1 inhibitor (anakinra) - these are commonly used for many different autoimmune diseases. They're expensive, but effective. In the future, we'll hopefully have more precise medicines that are better tailored to individual autoimmune diseases, but for now, drugs like TNFa inhibitors make a huge impact for many patients.
3
This may be a stupid response but couldn't someone just list all the symptoms and plug it into a search engine, Google it?
There would have to be a list of diseases that had the same symptoms, and each would be ruled out until the one that fit was all that was left.
3
Yes, per the article, that’s what Dr Huls did (using pubmed not google), based on the records, examinations, information and responses from various specialists that Dr May had gathered over months. That’s pretty much exactly what was done.
Please tell us which insurance company it was that refused to pay.
2
Three cheers for these doctors!
1
Mystery illnesses make me wonder if its exposure to something. Valley fever hit 2 people I know in AZ. Symptoms lasted a year. Its from a fungus that when disturbed by digging can get in the air and infect the lungs.
So great, Dr. Forest Huls is the Sherlock Homes of medicine!! Wonderful and I hope he has a fine career in his future, but why not give the insurance company that is providing the cure some credit too??? I don't see why this important information is left out. Maybe more insurance companies would help people if they thought they might get a little PR credit. Boos go to the author, Lisa Sanders, MD, of this article for leaving that information out!!
Aside from the fact that the insurer finally did cover the drug right before the end, I am stumped as to why you think they need our thanks. They care about money, bottom line. So many of us have so many stories of how insurers (in this case Medicare) direct care-you have to try this drug first or you have to have this test then that test in that order. Or steroid shots een though they don't work before surgery. After many months you finally have the test that is expensive but is the likely one that will yield the answer after you wasted many months in pain or with some harmful condition. When insurers hire some docs like Dr. Huls and form a think tank that works for patients from the start they will get thanks. This will save them money and help patients. Hope they see this soon. My deductible is $7000 and I can't afford a medical mystery.
Dr. Huls going through the chart of someone who he is not directly involved in the care of...Sounds like a HIPAA violation to me...throw the book at him! No good deed should go unpunished.
3
A pathologist may very well have had reason to review the patient’s medical record. It’s probably not a HIPAA violation.
4
The major news is on-line search & eventually Artificial Intelligence (A.I.) to diagnose rare diseases. This is implicit in the paragraph "Curious About Unsolved Cases". In this case, and in many future cases, preliminary diagnosis for rare conditions could use on-line search and A.I. as a major technique for MDs to diagnose rare diseases. This will make it unnecessary to find an rare MD "with a rare reputation for . . . figuring out the diagnosis". Furthermore, A.I. could also provide near-match diagnoses, for condition that almost match the symptom list that was fed in. This effectively belongs in the NY Times recent article on A.I. slipping into everyday life. Perhaps almost every MD should become familiar with the interface for such a useful diagnostic tool.
1
I take liquid cartilage made from 18 month old lambs and my immune system is excellent. There is a manufacturer in my town that makes it...lucky me. (He used to shear sheep.) I have been taking it for more than 12 years. The workings get into the red blood cells and wash the nasties out, normalising the cells. I certainly will not get arthritis either. The doctor at a hospital told me 2 years ago that I had the healthiest blood she had seen in 2 weeks. There were 70 people listening to this, and I feel so happy everyday. The research has been done on this liquid, and one of its qualities is, in fact, happiness. There are doctors looking into the particular chemical in liquid cartilage that makes for this happiness so as to develop depression drugs. My friends say I never look like I get wrinkles in my face. Strangers have been amazed by my complexion. The elastic qualities in my body are amazing to me too. The reasons I take this daily are many now.
"...there is now a very effective treatment..[a] new...drug..."
what is the drug and how does it work? this should have been the main focus of the article. misery might love company, but naming a syndrome and its symptoms that others have suffered from do not make them go away. identifying a syndrome and its symptoms is useful if a treatment exists.
The young doctor figured this out basically by just running all her known symptoms from the onset of the condition through a database. The truth is -- anybody could have done this. And should have. Which is why a very large part of medicine will eventually be done through AI. And it will actually be done better. All the humans will need to do is correctly record the data.
3
You do need to know which signs/symptoms NOT to include in a database search.
2
Patients and people are doing this every day. We are the unsung heroes of our own family medical mysteries and have been since the internet became usable. This country needs to look at how bad our medical care is in this country-so many mistakes and so many tests and so little thinking and collaboration.
It would be nice to know the name of the manufacturer who supplied this drug. They deserve some thanks and good publicity. I'm sure their industry as a whole might benefit from some too!
2
Art of good diagnosis seems to have disappeared with new and fancy tests!
I came back from a weekend trip to Dubai and felt chills, lots of blankets. Low-grade fever persisted and could not focus on work (disability was denied since it was low-grade fever). I suffered for 3 years (even retired from the job) with a problem that a lot of tests could not figure out. HIV, Epstein-Barr, Mono etc. tests were all negative including the possibility of fungi on the heart valve. My Indian doctor friend had told me in the first week to get tested for Malaria. No way, I live in the USA and Dubai does not have that. I had not been to India or other mosquito places either.
Finally, after three years I was in India and got the high fever and was hospitalized suspecting Typhoid. The Indian doctor said that the chronic low-grade fever is typically associated to fungus on the heart valve but since that was negative it has to be chronic malaria and it will not be detected in the blood test.
He gave me cheap Quinine tablet that even the chemist was surprised that I was given cheap Quinine vs. high powered medicine. In three days I lost my hearing. Went back to the doctor. I was told that we give you bitter medicine and now it is time to get 1 kg sweets. Supposedly the temporary loss of hearing is a side effect of quinine and the antidote is sweet.
I was cured! Many times the USA trained doctors would not know of tical and common tropical disease and can end up on a wide goose chase.
Even though Dubai is as clean as the USA. I do remember going to a small mom and pop restaurant and was bitten by a mosquito that I ignored but that was the root cause!
Remarkable. So, so happy this woman finally found relief, and can resume her life. All the best!! :)
1
Digital data bases of diseases and symptoms plus a doctor willing to take the time use them sound like a winning combination.
Agreed - two doctors, in this case. A great result, far too long overdue.
My sister has been sick for two years with similar symptoms - she has been to 4 different doctors and nobody has an answer except that it is some sort of auto-immune disorder.
More and more (mostly women) people are having terrible problems with auto-immune disorders and it needs more research and attention.
4
I've been going through a similar process. Over the last 5 years I've been incorrectly diagnosed with multiple rare disorders and CFS/fibromyalgia. One more trip to Mayo, and am hoping this time they be able to provide a correct diagnosis and treatment. I'm thinking perhaps I should look up Dr. Huls as he uses a very comprehensive research approach that most specialists can't seem to comprehend.
For profit health insurance should be a crime. This very interesting article demonstrates why.
3
Doesn’t the medical industry have algorithms to pop out the possible diagnosis given all the simptoms and inputs. BTW Lyme disease another one of those cryptic diseases. Anyway very cool story.
1
I see no heroes here. An operable data base of symptoms in the era of computers could have remedied this woman’s misery years before. I am stunned by how uncoordinated the medical establishment still is.
5
Indifference and incompetence lay behind this patient’s prolongues suffering. And curiosity, caring and determination on the parts of the patient, her daughters, and Drs May and Huls are what got the great—and long overdue—result here.
My late father was a pathologist and curious about everything, always. He would love this! Good for Dr. Huls.
1
Dr. Forest Huls is a real hero in my books--he actually used his brain and did serious research on the symptoms presented by this patient. Unfortunately, too many doctors get their medical education after graduation from the pharmaceutical industry. They go to medical seminars run by drug companies--and guess what? The advice given on both diagnosis and treatment is derived from research the drug companies have performed at tax payer expense, and the cure is invariably a drug. Even the National Institutes of Health are 40% funded by "industry".
I'm selfishly hoping that Dr. Huls comes to my community.
1
Kudos to Doctor Huls, may he flourish.
Maybe there is a role for medical units, led by his ilk, who specialize in finding possible diagnoses that are beyond the reach of both rural and urban hospitals, and even medical schools. They could not be omniscient, but with familiarity in databases and medical publications, they might be able to rescue many others who have unexplainable symptoms from their regular medical environments.
Ya think?
1
The article says there's a very effective treatment for this woman's disease, & that her insurance initially refused to pay for it. But the author fails to say what the name of this treatment/drug is.
Please do tell.
In a rightly ordered world Scott Pruitt, our spare-no-expenses, high-living head of the EPA, would fly coach, and the difference between that and his whimsical first-class travel would go into a fund dedicated to making certain no one in our rich country suffers or dies because they can't afford medical treatment. Or consider a 2% tax on our bloated military budget, to raise money for building the foundation of an all inclusive basic national healthcare program.
The fact is, of course, that our national financial priorities are set by Trump and his soulless friends. And they care very little about the poor and weak.
2
Bravo Dr. Hugs, great job. You should start consulting practice as diagnostician for rare cases.
The problem is our health care system would pay you only for a consult, at the most $200 to $ 300. I can only imagine that it must have taken 15 hours to go through the many years of medical records and type the 11 page consul, giving him $20/hr.
Go figure!
2
It was Dr May and Dr Huls who got the job done. It took both of them to get this result for the patient.
1
I wonder why the "specialists" the patient had consulted earlier couldn't do what the pathology resident did?
3
I think it is time the names of insurance companies that decline coverage should be part of the story. By letting them be anonymous, you let them hide. Since there is no good way to really evaluate whether an insurance company will come through when you need it, it seems to me news coverage that names names is a very important source of information for the public.
1
" When the woman’s insurance company refused to pay for the new and very expensive drug, May appealed to the manufacturer, which agreed, after several months, to provide it."
Great! It worked. Thanks to the persistence and intelligence of Drs. May and Huls. But who's paying, since the insurance co. (God bless 'em), won't, for this drug?
The manufacturer agreed after several months to provide it. That means free of charge. The manufacturer after several months acted altruistically.
1
There is something appealing about pathology in that without examining patients they are able to use there brains, microscopes, and databases to figure out what those poking, prodding, and cutting cannot.
Wow! What an awesome story. Happy to hear that someone found answers to such a serious problem at UAB in my hometown of Birmingham.
Great use of database and doc smarts to come up with a diagnosis. Shouldn't this method be the default?
2
"using the database PubMed to look for a disease that matched the patient’s symptoms. He made a list of her symptoms and abnormalities. To get the full picture, he combed through her earlier electronic medical records" Great to see use of database technology combined with an MD's training to put this together.
1
We must make it illegal for insurance companies to refuse to pay for medically necessary treatments. We must make it illegal for Pharma to charge so much.
Better yet, we must make it illegal for there to be insurance companies and Pharma.
2
Wonderful article on truth - real limitations to our knowledge
Some months ago, I watched an episode on PBS Newshour where oncologists were using artificial intelligence systems (from IBM if I am not wrong) to be part of recommendation system. No human can keep up with the pace of knowledge being developed and can remember rare conditions, e.g. schnitzler syndrome.
I think cases such as the one documented here make excellent candidates to use those systems. I believe these expert systems will significantly add value to our lives.
3
This problem is exacerbated because very often, the prescription insurance is a different company than medical insurance. So the prescription company has no motive to pay for expensive treatment because even if the partient becomes for ill and requires really expensive medical and end of life treatment, the MEDICAL insurance pays for all, or substantially all, of the care. How about insurance companies being on the hook for costs when they deny coverage for know cures and a patient gets worse?
1
My congratulations to Dr Huls. I am curious, though, about HIPAA compliance, given the way the involvement of the pathology resident is described in this report.
1
The insurance industry will see this and the CEOs will get on the phone with one another and agree that to cover an illness or syndrome, there must be proof that on a global scale, more than 5 million people currently have it, with the insurer determining the diagnosis -- not doctors or researchers.
Anything more discrete won't be insured. This will "insure" that Schnitzler syndrome remains a one-off episode, not to be repeated or the insurer will be dismissed from the industry trade association.
That will fix things.
1
YAY! I happen to work in the hospital district at the University of Alabama at Birmingham (though not in patient care). So glad to see that our physicians and physicians in training are thinking.
1
Kudos to Dr. May and Dr. Huls
for their persistence and dedication.
It is mystifying that a drug company
would create a drug that can cure a
rare disease only to deny it
to a person in desperate need
for MONTHS.
My naive mentality,
profit trumps cure.
In many cases, I would imagine, sick
patients do not approval or
get it too late. This links to
Dr. Mikkael Sekeres' article on
Feb. 8, 2018 about his efforts to
get the insurance approval
for a patient's leukemia therapy.
It took determination on
his part.
There is probably
more of a pattern
than we know.
I know from the experience
of a friend who is in treatment
for ovarian cancer that after
her chemotherapy,which is
covered, that she will need
maintenance drugs that are
not covered by insurance.
How does that make sense?
1
Despite all the promises that computerized databases and records would solve the mysterious illnesses, it still took human intervention of a trained professional to make the connections of symptoms with those of identified diseases through the process of a differential diagnosis. Kudos, and Bravo to Dr. Forest Huls!
But what happens should Dr. Huls be no longer available. It is the utter failure of so called computer nerds not understanding the complexity and breadth of data that comprise the historical record of Medicine and condemns us to the weakest link in the chain of information.
Excellent article! I always love reading these investigative articles. Kudos to the smart intern who figured it out. I can’t imagine anything other than unbridled passion for medicine and altruism leading to the patient getting cured. I would like to know more about the mechanism of action of the drug used here. The cost does seem prohibitive, so any generics (probably unlikely since it’s a rare disease) would be the way forward.
I find it interesting how many comments recognize the economic constraints of modern day medical practice, which leave most physicians far too busy for the medical sleuthing described here.
And yet, we are reluctant to use AI in such situations? It seems the ideal application.
2
1. I am not a big lover of AI, but I think it will have a terrific role in medicine down the road. There are too many unusual diagnoses like this where it's almost the luck of the draw that a doctor can recognize it. 2. That doctor is exactly what the world of medicine needs. Talk about a lifesaver! 3. How incredible that a cure is literally sitting on a shelf untouched while a patient suffers, simply because Republicans in Congress don't think we should have basic healthcare as a right.
1
Great story about a medical mystery. But I doubt that AI would have led to this diagnosis. We all want to believe that great electronic medical records (EMR) and AI will be the salvation of medical care. They don't replace the caring and persistence of May and Huls for a patient with such a rare condition. I am a healthcare attorney and I have reviewed electronic records (EMRs) and old-time hand written records. With EMRs, patients are starting to look alike (the algorithms won't work) and with old records that were well written, the story of the patient's illness was in many ways easier to follow. We still need caring physicians and other health care providers who have the time, talent and energy to critically evaluate their patients. AI can't and won't replace that.
2
It took 16 years for me to get diagnosed with Schnitzler's.
I have to thank Belgian dermatologist Dr. Nathalie Deroo, who worked within her group of specialists for months trying to figure out what was going on. A retired university professor remembered reading an article written by Dr. Schnitzler in the 70's. Hallelujah!
There are two facebook groups for people with the affliction.
5
Excellent article. My sincere thanks. But IMHO, it's not quite finished. Do the AMA or the state medical associations have an opinion on the competence of M.D.s who have access to a (frequently or consistently?) accurate database tool, as described here, but who do not use it when treating a patient with a debilitating condition which they cannot effectively treat for over a year? If an auto mechanic made this mistake, we would all assume him or her incompetent.
3
great point!
Kudos to the amazing physicians and the patient's daughter who asked that she be transported to a university medical center.
My son was recently diagnosed with an auto immune disorder. After years of pediatricians and allergists telling me there were no GI issues, we self- referred to a pediatric GI. She predicted his disease with a consultation. A scope confirmed her prediction. As a mom, I beat myself up that I didn't advocate more aggressively for my son earlier. He has endured a lot of suffering that might have been avoided. We are now in the early phases of managing care for a teen with a significant, lifelong disease. It would have been so much easier to start this when he was younger.
I have so much gratitude for the surgeon who diagnosed his disease. I am furious and disgusted by the MDs who refused to take time to ask questions, listen to my child's concerns, refer to a specialist, or even consider the gut instincts of a parent.
On a larger scale, I blame our system. MD's can only spend but so long with each patient due to managed care.
We now have a teen diagnosed with a rare disease. I pray that we will encounter physician's like Dr. May as we navigate this journey.
5
For ten years I suffered from a collection of strange symptoms that appeared unrelated, some affecting my ears, some my skin, some my breathing, some my joints. Various specialists - each consulted about the symptom in his/her area of expertise - would run tests. I was sent to allergy specialists, rheumatologists, orthopedic surgeons, ENT doctors, dermatologists, there was a lot of shrugging by my primary care physician, who muttered about the necessity to lose ten pounds. Years passed, each and every symptom got worse. One day, I typed my list of symptoms into Google, and two possible (and quite rare) conditions came up. It turned out that I had one of them - luckily the one that can be cured, rather than the other one, which is fatal. Ten years of suffering, and then five minutes with Google. Something is wrong with a system that produces such results.
7
Stunning story. Thank you for sharing it. Very glad you found the right diagnosis and that it’s treatable.
So often the patient receives check list medical care. The usual list of tests is done. If all the numbers fall within an acceptable range that ends the search. The doctor who sees the patient's symptoms and continues to search for an answer is rare.
2
Salute to Dr Huls, a true diagnostician.
Dr Huls is a healer, a scientist, an investigator. This story gives hope to me. How fortunate this patient had him and the entire team on her side. This medical team persisted.
Too bad it wasn't 10 years earlier.....but a nice ending.
1
Two conditions were key here and are usually present whenever I read or hear about these cases of rare diagnosis that sometimes take years to find.
1. A fresh set of eyes. With rare diseases, when the initial symptoms manifest, they are often looked at individually, often by different specialists. It's like the proverbial elephant, each sees only "one body part" and no one sees the whole elephant. Because these symptoms don't necessarily manifest at the same time, they are not considered part of a single diagnosis. In this case, fibromyalgia is assumed to be one diagnosis and then, some time later, the rash seems to be another disease altogether. When a new doctor unfamiliar with the case gets the referral, they hear about all the symptoms at once. They are more likely to see them as part of the same disease.
2. Newly trained doctors. Newer doctors are less likely to have developed a routine for diagnosing. The are less likely to rely on the assumption that "X symptom(s) usually mean Y disease" that comes from years of experience. While these are usually correct and the simplest answer is usually the right answer, it is not always so. Newer doctors are more likely to consider a wider set of possible diagnoses.
3
Is there a field of study which tracks just if and how symptoms relate?
Perhaps this happens all the time, but as I read this it struck me Dr Huks put a medical jigsaw puzzle together.
epidemiology.
It was a resident at a Boston hospital who discovered why my father was dying after all other doctors were mystified. He gave my father 3 more years of life (my father died of something unrelated). It is an important lesson for those that dismiss the ideas of residents, interns, and nurses.
4
This was a case for that IBM computer, which could have saved many months of confusion. But bless the young doctor for his conscientiousness and determination. That the drug was initially not made available is a disgrace, though the insurance company may have been aware, and possibly could have suggested, that the drug maker would respond favorably if asked.
1
Bravo to the physicians who finally worked out the problem.
Bet you she saw at least one doctor the months (?years?) she was ill who said with total conviction that her problems were mainly psychological; that they had a biopsychosocial explanation which could be cured by cognitive behavioural therapy; and that if she didn't improve under CBT then she wasn't trying hard enough.
And if that doctor said as much to the insurance company, then they could reimburse her if her policy covered mental illness and then abandon her 12 months later. Or simply refuse to pay up at all.
And good luck with disability insurance, as this sort of case is basic refusal territory for junior insurance claims' handlers.
So it's crucial to get this sort of diagnosis. It can make a huge difference and not just to the treatment of the patient.
1
You've been around the block, too! It is either psychological or autoimmune or chronic fatigue syndrome. Early diagnosis should include at least Google search by each doc involved.
If we could, let's spread the kudos around more broadly. Dr. Schnitzler, in 1972, spent the time to first compile random symptoms of five patients into a syndrome. Then, various people wrote articles in various medical journals. Then, people, many, various, built the database that makes up the PubMed system. And for some reason, a pharmaceutical company developed a treatment for a "rare and poorly understood" condition, which treatment might never be used on enough patients to be profitable.
Even though the Schnitzler's syndrome is "rare and poorly understood", all these people made certain that documentation and treatment would be available in the future.
So for Drs. May and Huls, for their diligence and intellect, resources were available for their caring work.
1
I am very aware of how easily available deep learning software (which is available to many medical facilities at no cost) could have identified this syndrome as a possibility within a few seconds (it has repeatedly demonstrated to ability to diagnose better than the best diagnosticians). Although I am thankful that a systematically inclined physician did the analysis, the snail-like pace at which such much more powerful, low cost tools such as deep learning software are adopted for this purpose is painful to witness. This save both pain and money!
2
Kudos to Drs. May and Huls. Unfortunately, I think this case highlights a lot of misconceptions about medicine. As doctors, we should have a systematic approach to diagnosis and not rely on a "hero" to save the day. My questions in this case are:
1) Where was Dr. May's attending physician? Second year residents are not equipped to independently care for patients.
2) Was there a rheumatology consult placed? I'm sure they have probably heard of this condition.
3) Was it appropriate for an unsupervised pathology resident to be writing 11 page notes in the chart? Perhaps a friendly page with the suggestion of the syndrome would have been appropriate and is what most of us would do.
4) If this wasn't his patient, do we have concerns about privacy (HIPAA) in this case?
I think articles like this add to the public misconception that there is no systematic process in medicine and you need a hero to save the day. That's really not how it works in the real world.
3
So many of us are disappointed by the system. The public misconception has merit, too.
“How it works in the real world” was that this patient spent 10 years suffering, undiagnosed and untreated.
The patient has her life back, and you are pooh poohing the doctors who got the result. To what end? To defend a broken system? To demonstrate your expertise in that system? How is that helping? You could use your expertise to shed a light that helps.
3
What I’m “pooh poohing” is the overdramatized anecdotes presented in this weekly column. Not the residents portrayed here.
1
Such a need for this.
As someone misdiagnosed and treated for years for the wrong illness, now with the "right" diagnosis after expensive testing which may not be right after all, I can only hope to get a doctor like one of these two.
I am likely going on disability soon, but I cannot help think that there is a solution to my issues.
The sad part is, this woman was elderly and I am younger with a family. My children have and will suffer from the fear of doctors to refer my case to someone else, because they think they know - and if they don't, they just stop treating me.
1
beautiful story, wonderful doctors. thank you for telling this story. it gives me more hope in humanity and our medical institutions.
As a primary care physician, my takeaway form this story is that there is no substitute for detailed clinical observation and informed research. It takes time and patience and a genuine interest in the patient as an individual. This interest includes curiosity, intellect, and compassion. This pathology fellow, Dr. Huls, demonstrated these qualities and brought diagnostic light to this difficult case. As for the patient, May, she and her loved ones had to persevere in our complex and flawed healthcare system in order to get a diagnosis and the treatment she needed. It's a hero's quest. I honor her courage and strength.
1
The patient’s name was never stated.
It took the curiosity, caring and determination of two doctors to get this positive result for the patient. Both Dr May and Dr Huls were critical to this outcome. Bravo to each of them.
2
Our for profit system has lots of advanced technology. Unfortunately the profits ahead of morals or human decency approach to our business of healthcare based on the need for ever greater corporate quarterly profits leads to this. When can we get some traction, drug prices are out of control, driving higher and higher insurance costs. In the even bigger picture, The Blackstone Group's letter to corporations stating that there needs to be another element in success that has been forgotten. Does our business create common good or does it destroy people and the earth?
1
You have good points. Hope that medical community and insurers see the need to include computers and think tanks of really talented detectives to help patients will help prevent suffering, waste and money. Having a common goal-finding the answer asap is what insurers, patients and busy docs need and for once these all align.
Good doctors and great doctors change lives. I have had more than one and am so fortunate. Thank you to the doctors who kept looking and asking and changed this woman's life. She won't be the only one whose lives they change.
2
Let's get real and talk about pharma's pricing policies. The drug referred to in this article is almost certainly anakinra, sold by amgen, for about $4K/100mg. As a "biologic," a product that must be cultured in bacteria and then modified, it is certainly more expensive to manufacture than a standard synthesized molecule. The marginal manufacturing cost doesn't reflect its development expense. Typically much of the science is based on academic work, which industry takes over to bring to market with expensive clinical trials.
In this case, the trials only had 53 patients (i.e., it wasn't expensive).
So there you go: a system that is subsidized by everyone for its basic research, but its economic value is assumed on the cheap.
And it's even worse. "Orphan drugs" which are given "fast track" status through the regulatory process (thus, the skimpy trials) are patented, and therefore cost a lot. But, through insurance premia, the costs are passed on to everyone. So, in effect, the suffering a small numbers of patients are used as a means for pharma to find very quick, relatively low risk, ways to siphon money out of the system.
We've got a broken system that all the Dr Huls in the world can't heal.
1
Patients need doctors, who are not only curious, but who are willing to examine all of the facts at once. It is rare to find one. I am glad the manufacturer accepted Dr. May's appeal. It is a sad commentary that a corporation had to save this patient. But I guess, after Citizens United v. Federal Election Commission in 2010, where the Supreme Court declared that corporations were people too, one "person" had to save another.
2
Very well written article and very interesting. I feel badly for all the people who have to suffer while awaiting help.
Given that there are around 7000 rare diseases it is impossible for any one physician to know each of them well. Given that any disease can present in unusual ways this multiplies the difficulty of finding the correct diagnosis. This patient was very fortunate.
But docs should have a more systematic way of working with so much information, including information that has been around since the 1970s....They need better tools, too. Something different needs to happen if a patient still has no answer after many months or years.
1
Apart from the predictable insurance company denial forcing its way into also this story, what strikes me is how hard it is to come across a Dr. Huls. That is not a putdown for the medical profession: We have trouble handling even the most common diseases such as cancer. The rare ones, what are the odds that a local doctor has come across an illness that afflicts maybe one in a million?
Yet, if medical records were truly digitized across the board, with symptoms properly standardized and coded, the sort of queries Dr. Huls did on PubMed could easily be done by run of the mill machine learning programs, letting computers do what they do best--find the patterns in the data that are elusive and rare to a human, but to a computer with millions of records, trivial to identify.
We need a national digitization program, and digital record portability for when patients switch providers.
3
It took the curiosity, caring and determination of two doctors—Dr May and Dr Huls—to get this positive result for the patient. Bravo to each of them.
1
It is encouraging to know that these young doctors took the time to truly care for this patient and to stick with her until they could arrive at a diagnosis and treatment. I am so sorry that this patient had to suffer for so long before she was properly diagnosed.
3
Bravo to Drs. May and Huls. But also brava to the daughter who had such a good experience at the university hospital and chose to take her mother there. And bravo to the EMTs who actually took her there.
4
1. All doctors should have access to a computerized index of symptoms and diseases- and use it!
2. It’s great that the young dr researched everything and found the diagnosis, but why didn’t he communicate it to the primary doctor instead of just leaving it in the chart? For all he knew, it could have been months til the chart was looked at again. Kudos to the other Dr who was checking the chart each week.
3. Drs need to have the TIME to do this. Mostly they are too busy.
4
"When the woman’s insurance company refused to pay for the new and very expensive drug..." This is why insurance companies should be forbidden to deny medically necessary treatment. Actually, it's why we need single payer health care, so that private insurance no longer calls the shots.
3
Dr. Forest Huls joins Chesley "Sully" Sullenberger on my list. Huls is the kind of curious and compassionate person who would be a great doctor to have for the rest of your life. I would love to have Sullenberger at the controls on every flight I ever take. Very interesting piece by Lisa Sanders. Best wishes to the former patient who got her life back thanks to Dr. Forest Huls.
2
It's time to start naming (and shaming) insurance companies that refuse "to pay for the new and very expensive drug" that might be the only cure for a patient suffering from a disease. Why would the author of this piece leave it out? I mean, I get that that was not the point of the piece, but it couldn't have hurt to use a proper noun instead of a common one, surely.
What do any of us have to lose, at this point? Held hostage by the party of greed and/or mental illness, the Republican party, along with its corporate owners, we suffer in needless ways that citizens of no other modern countries would ever put up with. So at least let's start publicly embarrassing the corporate officers of the insurance companies that make decisions about whether we should live or die. Each time we hear of a patient being denied life-saving meds, let's use social media to spread the word with the name of the insurance company, the names of the CEOs, and their salaries, if we can find them out.
5
I too was finally diagnosed with Schnitzlers Syndrome. After two years with local doctors I was able to see specialists at UCLA Medical Center who determined the cause of my daily fevers, chills, flu like symptoms, weight loss, and bone pain. I am currently on Prednisone but I am looking for other options. Kineret (Anakinra) is the drug of choice but a two month supply through Walgreens is $15,000+. I too will be checking with the manufacturer to see if they can provide their product at a more reasonable. price.
5
Good luck to you. Only took 2 years (that is a long time, too)....
This is AWESOME!! The way medicine was intended to be. 2 doctors cared enough to pursue a difficult case, one for months until a diagnosis was found, and the other simply because he wanted to help, even though he wasn't asked. This kind of news makes me smile.
2
Good on the two young doctors in this story! Their commitment to take responsibility for solving another human being's complex medical problem speaks against the all too common cynicism that exists in the medical profession and society in general. Would highly recommend (for those who enjoyed this article) a 2015 book by Robert Wachter entitled "The Digital Doctor." In this book, Dr. Wachter suggests that humans and computers work best when used in a complimentary fashion. This case very nicely demonstrates what an excellent result can be obtained when combining the dedication and hard work of these two young physicians with a huge data base and analytical software.
6
Despite all the promises that computerized databases and records would solve the mysterious illnesses, it still took human intervention of a trained professional to make the connections of symptoms with those of identified diseases through the process of a differential diagnosis. Kudos, and Bravo to Dr. Forest Huls!
But what happens should Dr. Huls be no longer available. It is the utter failure of so called computer nerds not understanding the complexity and breadth of data that comprise the historical record of Medicine and condemns us to the weakest link in the chain of information.
4
In addition, doing research on one's own symptoms should be part of self-care whenever feasible. Most doctors are too narrowly focused and trained to be relied on. We have to use doctors as technicians that can sometimes assist in our search for truth. Similarly, never take a diagnosis or a progrnosis as a god-given edict. While this articles stresses the doctors' puzzlement, hasty and unreliable diagnosis is all too common.
4
Good work by Huls. This sounds like something AI search can help with.
3
And no doubt the insurer had resisted in the past and presented a stumbling block to any diagnosis. Yet they are no mentioned by name, as though it's their corporate privacy that is precious. I tell you, you roll over for these corporations and they will treat you mercilessly, so you better well do the same and next time name names. What was the company?
4
medicare
It's unimaginable to me that any doctor, or even a team of doctors, could be familiar enough with every known disease that afflicts humanity to reliably diagnose obscure problems - the number of combinations of symptoms and signs is just too large. However, this is an easy problem for a computer which can process matches far more effectively than any human could. Lawyers have electronic databases to search case law. Why don't we have this tool for medicine?
9
How did the pathologist happen to stumble upon the case? How can patients advocate for themselves to get the right specialists to connect the dots?
5
He got his answer on-line, through PubMed. On-line medical archives are available at many colleges. I know a person who identified her celiac problem through searching and studying this way. Unfortunately, even with articles in hand, she had years of shopping before she found a Dr. who would test her. Yes, she DID have celiac.
Sadly, even well documented efforts by patients are often pooh-poohed by medical staff. Yet when Dr.s won't take the time to do the research as Dr. Huls did, what else can we do? The 10 minute "exam" that is all insurance will cover is at the heart of this problem.
10
Kudos to Dr. Huls for his painstaking efforts and for making the correct diagnosis. However, the article says that Dr. May happened to see Dr.Huls' note while perusing the medical record. It would have desirable for Dr. Huls to contact Dr. May directly to discuss his findings, rather than leave it to her coming upon his note in the record.
8
This indicates why the old Docs used to say Listen to what the patient and/or spouse are telling you. I add spouse because one old Family Doc (that’s what they were before they were called before Primary Care Physicians ) told me years ago about having wives present. “Women are better historians then men.”
12
I love PubMed!! I used PubMed to diagnose and cure my son 15 years ago. Medical schools need to create a new category: detective diagnosticians. And put Dr. Huls in charge.
19
Congrats to Dr. Forest Huls and Dr, Jori May for doing common sense research to figure out this tricky case.
What I don't understand is why consulting PubMed isn't done in general. And why did all this money have to be spent doing every test in the book while the patient suffered tremendously, losing a significant part of time to live her life normally.
Most of us use symptom-checker--why is it so hard for physicians to do the same?
15
Patients and families do this all the time. GPs are so busy you just need that extra layer of protection.
Thank goodness (and curiosity and gumption) for people like Dr. Huls and Dr. May. Would that all doctors were as dogged in their pursuit of answers.
I'm glad the insurance company was ultimately shamed into providing the drug that proved the cure, but why must we continually fight for that which is readily available? What sense making wonder drugs if they aren't used by those suffering?
This was a fascinating read. Thanks for an inspiring glimpse into a medical mystery with a cure.
5
I don’t believe the insurance company ever provided it. The doctor had to negotiate with the manufacturer.
4
Pathologists are the most brilliant problem solvers. Nothing like attending grand rounds from the pathology department in medical school. Hence the wonderful TV show from the 1970s with Jack Klugman playing "Quincy, MD."
I was fortunate to attend SUNY-Downstate in the early 90s with a splendid group of pathologists. Dr. Jacques Wallach, may his memory be blessed, was a mentor and author of the essential book "The Interpretation of Diagnostic Tests." Dr. Martin Salwen, whom I believe was the department chair, was no less brilliant. The class was challenging (well almost everything is in med school!), tons of information to process and learning how to recognize abnormal cells under the microscope was no small feat. They were simply the chess grandmasters of medicine. The more obscure the disease the more likely they were to be an invaluable source of information.
The only puzzling thing about the case, perhaps, is why the determined doctor didn't reach out to the pathologists for a lifejacket earlier.
11
Imagine how much suffering the lady incurred just waiting for the manufacturer to give the drug free. And we like to think we are the greatest country in the world.
18
she earned every penny of that cost and more--
You should name the insurer. They deserve the PR hit for denying essential medication to a woman in desperate need.
Kudos to Dr. Huls -- what a great testament to the ability of our doctors to go above and beyond to provide compassionate care.
54
As a practicing RN for 42 years, I can tell you that it is rare to find a physician who turns over every stone and digs deeper until he or she finds the answer to any of these mysteries that the body can present. We need more of these people. People whose curiosity is rewarded. People are suffering, and it is a terrible shame that sick people have to pack up their bags and go from medical institution to medical institution for answers.
51
As a practicing physician I can tell you it is rare to find a nurse that doesn’t jump at the first opportunity to criticize doctors who are just trying their best to do their jobs with the information given.
2
Sadly, there is nothing in the current business model of healthcare that encourages the diligence shown by Dr. Huls, quite the opposite in fact.
3
Well you docs need to work together to find a better way, because things are not working well for patients much of the time. You should work with the nurses, and with the patients and with Google while you are searching for collaborators. If you have ever been a patient or cared for a loved one you would see why so many people are so disappointed. I am not a nurse or a medical doc, but when I have to search the internet for info to give to my nephew to suggest to the doc, something needs to change.
1
As a mental health provider who works with people who have medically unexplained symptoms, this is a cautionary tale.
11
Here is the bottom line about today's supposed health care in OUR United States of America, Ladies and Gentlemen, "the woman’s insurance company refused to pay for the new and very expensive drug, May appealed to the manufacturer, which agreed, after several months, to provide it."
You can bet OUR hard-earned taxpayer dollars paid for the "research" this drug company used. It is simply criminal that OUR lives are held ransom by greedy educational institutions and corporations who only want to profit from OUR illness. What kind of a world is it that this is possible? Not the kind I want to live in.
Auto immune disorders are primarily women's diseases that are named so insurance will pay for "studying" them but for which there is no underlying reason.
Thanks to Dr. Huls for his interest in getting to the bottom of diseases like this and for showing us there ARE doctors who want to help people live better.
A pox on any corporation that would rather make profit and let people suffer and die than provide the medication that would allow people to live fully at a reasonable price.
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I agree in general but note the manufacturer agreed to provide it. The villain here is the insurance company. And educational institutions are hardly wealthy, not even the wealthy ones.
14
At least the drug manufacturer finally provided the drug. What about her health insurance company who refused to pay for the treatment just because of the cost? I find that even more troubling. Quite the indictment of the American health insurance system.
3
Another issue is that we tend to blame high costs of health care solely on doctors. While doctors'--especially specialists'--can be high, pharmaceuticals, bio-engineers, and, yes, the high price of a good education are very much a big part of our suffering.
1
During these seven months, where was this poor patient? Bless the doctors for finally figuring this out, but months passed before the insurers would give her access to the right expensive medicine. Sigh.
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If I read the article correctly, it was the drug manufacturer that gave the drug to the patient. The failure to address price gouging by manufacturers has resulted in them setting up "patient assistance programs" but not lowering the prices, which in some cases have been raised 10 times over or more in the last few years. So, insurance companies try to avoid covering the most expensive ones. The government doesn't by and large support pharmaceutical research at drug companies. Some mislead the public about the actual amount of revenue they spend on research. It's not usually more than 18% or so, and often much less, according to statements made in the documentary series, DIrty Money, episode 3. I am apologizing for insurance companies, but there is a lot of smoke in the dumpster fire of big pharma pricing.
3
The story says the insurance company would *not* give her access to the medicine in that they wouldn't pay for it.
2
The insurers never did. The manufacturer finally handed it over.
2
Apparently, Fibromyalgia has become the default diagnosis for unexplained pain when doctors can't figure out what is happening. I'ts where a patient winds up when the various tests come up negative but everything still hurts.
Clearly, the condition is debilitating and thankfully no longer dismissed as "all in their heads".
Makes me wonder how many treatable patients languish with an incurable diagnosis of fibromyalgia when in fact there is a source for many of their symptoms.
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Yes fibromyalgia is the catch all for patients who are a pain, to doctors.
3
I read several years ago that they had figured out a cure to Fibromyalgia. It has to do with extra nerves in the wrist. I can't understand why the discovery hasn't progressed to an effective treatment yet. Not that it would help this patient but it would help the millions of others who suffer and those who are being misdiagnosed.
Actually there are treatments for fibromyalgia. I have the disease and have had it for over 10 years. It might take a little work, but there are drugs and regimes that work. The first ones I took did not help, but the second ones were immensely beneficial, along with lifestyle changes. These do not cure the disease, but you can get your life back, at least somewhat.
2
May both doctors be blessed with long and productive lives. That is outstanding work. Wish more and more physicians would be so proactive.
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Your appreciation of the two doctors, their talent and caring, goes to the core of what good medicine is all about. Thank you from a doctor's son, a former ER volunteer and hospital trustee, married to a truly outstanding professor of nursing. And -- we need to move to a universal single payer system soon !
Very interesting. Bravo to the doctor who took the time to find the dx.
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I had a fever of undiagnosed origin for 6 months. Although I (luckily!!!) had excellent coverage, when it was finally diagnosed, my dr said "I would have taken this case for free."
They like a good challenge :)
2
As a doc of 30 years I can see these docs are the future of medicine
2
Glad she's better. As for the diagnosis, just have to share this (apocryphal but instructive) story from med school:
The senior doctor asked all of the attendings, residents, interns, and finally medical students on rounds what they would diagnose in a very complex case which included an enlarged spleen. One by one they gave wrong answers. Finally the most junior medical student had his turn, and without hesitation provided the correct diagnosis. All were suitably impressed - until, on being asked for the reasoning behind his brilliant thinking, he responded "It's the only thing I know of that causes an enlarged spleen."
- Dr Huls, your thoughts? :)
61
Mononucleosis?
The troubling part of this otherwise great story is how the insurance company just flatly refused to pay for the treatment and they had to beg the manufacturer to help, which thankfully they did.
Fortunately some Martin Shkreli-type wasn't making that decision, but it's unacceptable that an insurer can just refuse to pay for something that, while expensive, is apparently a "very effective treatment." People should not have to regard health care as a spin on the roulette wheel -- will the next person be so lucky?
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The insurance company committed wire fraud by claiming its policy covered necessary and appropriate care, when it didn't.
1
Remember the “death panels” ACA was going to create? We already had them: insurance companies...and doctors who give up
5
Exactly! So well put. Thank you.
There is a great need for more people like Dr. Huls in our medical environment. Too many people are shunted from doctor to doctor who are not able to come up with a diagnosis perhaps because they are only able to look at the patient through their specialty lenses, not as perhaps someone who doesn't fit a pat diagnosis. Or maybe this is where IBM's Watson will be able to provide more answers.
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If computer software could do this wouldn't we already have a system that did so?
14
He made his diagnosis by entering her symptoms into a search on a database and looking through the results. This really does sound like something that could be done automatically with software.
Unfortunately, this story doesn't reflect the difficulties of a complex diagnosis, but of distortion of medical practice by the way it is financed. The cost to the patient and to society undoubtedly dwarfs the cost of Dr Huls time. But who but a poorly paid resident would devote his attention to her problem? Moreover, the fragmentation of her records is a result of the perverse incentives of hospitals, software companies, and insurance providers who protect their markets by not cooperating (in the tech biz, we call it "interoperating"). Indeed, the maddening routines that one must go through to "consent" to sharing medical information doesn't really protect the patient. It increases the friction that insurance companies and large hospital system use to hide their pricing and, effectively collude to jack up their prices.
An integrated system that could evolve without these financial distortions would be able to practice truly scientific medicine, with machine learning and automated identification of disease states (right now the hospital information system are only truly committed to "charge capture.")
How do I know what we're missing? Let's compare what Amazon can do with knowing your behavior, what it can suggest, and its efficiencies. Your customer account is not much different than your healthcare records. (This isn't an argument for Amazon taking over healthcare. It is an argument for financing medicine rationally).
Very touching lovely story. Its easy to rationalise that we have done all we can. Very much harder to keep trying to find an answer amidst a heavy workload.
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someone needs to change the way things aare done (or not done...) Mayo Clinic has had some good ideas.
Excellent testimony to the persistent residents using observation, deductive reasoning and technology to make a tough diagnosis. Clearly changing the life of this patient. Good job. Would make a great episode for one of TV medical shows.
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Two take-always from this article. First, considering the rarity of this disease, it is amazing that a treatment exists; given the fact that our pharmaceutical industries run only on a profit motivation, most rare diseases fail to attract research or drug production because there isn’t enough demand to recoup investment. And second, while the treatment is effective, the cost to patients and insurance is again the stumbling block. Although the article doesn’t identify the drug, one of the more effective treatments (without side effects) is Kineret (anakinra), which costs approximately $40 per 100 mg injection. But the issue is that this controls the disease, so the patient must continue these daily injections to keep the symptoms at bay. That’s $14,600 per year, maybe not in Martin Shkreli territory, but still real money. Until we balance the risk of these and other treatments among the entire population, they will continue to be financially and medically devastating to patients all over the country.
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I, too am blessed with a rare disease, parathyroid cancer. My exceptionally good MDAnderson endocrinologist explained to me that because of its rarity, pharmaceutical companies have no incentive to invest in research and development for effective management medicines. When a tumor was first discovered 20 years ago, I had access to Medpub and was able to help diagnose the cause (childhood exposure to x-rays to prevent tonsillitis).
For many people, medical management to alleviate the pain and other side effects is the key to living a quality life. It takes dedicated medical professionals to search for causes and stand up to recalcitrant insurance representatives. In my journey, I have been blessed with so many who have done so and am truly grateful. Dr. Huls and all of this patient's medical team, thank you!
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Or rethink current reimbursement models that provides for lavish lifestyles among pharma and insurance execs and hospital administrators.
1
Two to three days in the hospital each year costs as much as a year's worth of daily anakinra injections at $40/day. Daily injections are standard for controlling RA and some other diseases. What is the dosing for Schnitzler syndrome? It is not surprising but is unconscionable that a patient could have a diagnosis, with an effective treatment, and an insurance company refused to pay for the medication. Even at somewhere around $14,000/year, that cost is only a fraction of what hemodialysis, a very common procedure, costs per patient per year (paid for by Medicare regardless of age). Insurance of all types has become a lottery: you pay your premiums, and then when you need the benefit, you might just "win" (but often, not).
2
Thank you for such an important article. Many I know suffer from complex symptoms and seldom find a doctor willing to work toward a solution. It seems nearly all doctors want to work on the basis of one symptom, one cure. When that is not possible these lesser doctors cease providing care leaving the patient to find another doctor who won’t perhaps give up. Thank you Dr. Huls for being among the extraordinary doctors of the day.
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Also, it should be noted that her internist is the real hero, who never stopped looking for answers. Without her, Dr Huls would never had heard about the case. They are definitely what the medical field should be striving for, rather than how many patients they can see in an hour, per their business management’s work model.
I totally second your thanks!
I've been wondering of the effect of sending patients immediately to specialists? I feel my body resembles a Picasso, with each of my organs only loosely connected and floating separately....
Although there’s no substitute for a doctor caring for a patient, this case is an example of where AI could have quickly and accurately diagnosed the problem.
One of the challenges for doctors is to quickly and accurately synthesize reams of patient history and test results, and compare them with other cases in order to deliver a diagnosis.
As patient records become digitized and healthcare providers give their doctors AI tools the number of misdiagnosed or undiagnosed illnesses should plummet.
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On computer technology as a helper. Several years ago, students at MIT thought that their computers could do a better job at general assessments and diagnoses than GPs. Patients with new problems were first directed to a desk and were questioned by the wizard of a computer and then directed to the doctor for diagnoses.
After further testing and surgeries and in some cases, autopsies they found a an amazing result. Doctors won. I am not exact in the result but it was something like 24.7% of the cases that doctors were correct and the wizard computer got 24.3% correct.
It is scary but it shows that doctors are correct only a quarter of the time on initial assessments.
This example here would make a good show for "The Good Doctor"
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Ah yes, AI. It was going to be the thing to revolutionize medicine when I was studying for an advanced computer science degree ... in the mid 80s. Is the current prediction still that it'll come to pass in 5-15 years?
Fred. I think it is not as automatic as that. Getting all the symptoms together still requires a thoughtful doctor who has good respect for the patient. Hopefully that will become the norm in future years as the burden of diagnosis is helped by AI. The doctor still needs to communicate well with the patient about how to deal with most disorders. It is rare that a single medication does everything.
1
Here is the most horrifying and frustrating part of the story:
"It was an important diagnosis to make, in part because there is now a very effective treatment. When the woman’s insurance company refused to pay for the new and very expensive drug, May appealed to the manufacturer, which agreed, after several months, to provide it."
A diagnosis has been made. There is only one course of treatment, which fortunately is very effective. The insurance company is not legally bound to cover it. Where are all the politicians who railed against death panels? Why weren't hearings held in Congress?
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There are many folks with metabolic illnesses that have proven drugs, not even expensive but relatively cheap, but the drugs are stuck in the FDA's Orphan Drug category.
I take a drug that is 15K per year, that I have to get reapproved every year. Yet the drug that has saved my life is a FDA Orphan Drug, so I can't get coverage for the 1K per year it costs - not just me, but my children since it is a genetic illness.
3
Pathologists frequently make the final diagnosis necessary to properly identify the disease and treat the patient. Arthur Hailey published Final Diagnosis about the role of pathologists. Many patients do not realize that pathologists are responsible for many diagnoses, since we do not meet directly with patients. Our reports typically are the foundation for diagnostic decisions. Dr. Huls is to be congratulated on his extra work to bring relief for this patient.
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I’m pleased that pathologists help identify diseases for future patients, but it is still a sad statement of our society that a person has to die before a diagnosis and treatment can be started on a living patient.
Anther person brought up AI, which to me means at least a national database where the data can be entered, rather than having to hope your doctor reads about the diagnosis of your disease in the latest AMA publication.
2
Agree my particular disease was diagnosed by a pathologist, while I must admit, as a confirmation of my specialist diagnosis . When the bone marrow is involved, a biopsy is required, and tissue and blood, goes to a pathologist.
It took the curiosity, caring and determination of two doctors—Dr May and Dr Huls—to get this positive result for the patient. Bravo to each of them.
Fascinating article, which underscores the need for widespread deployment of an artificial intelligence diagnostic tool to record, analyze, and interpret symptoms.
The most disturbing phrase in the article relates to the terror of all of us trapped in the dystopian US health care environment: "When the woman’s insurance company refused to pay ..." We must replace the system in which our health and our survival is an insurance company profit game with a system which considers compassionate and appropriate treatment to be a human right.
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Comments like this are frustrating to me as a medical professional. There’s no such thing as an “automated symptom checker.” Anyone could type “fever” into a search bar— you’d get thousands of hits, most of which have no applicability to the patient at hand. Doctors integrate a huge amount of information about patients when making a diagnosis that’s relevant to the individual, drawing on volumes of theoretical knowledge, years of experience seeing thousands of patients, and simple gut feeling. If doctors are like engineers, human bodies are the most complex machines there are. No computer can figure them out. We are very, very far from that. To even suggest it is like saying “well if only we had magic...”
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I wonder how long it would have taken Watson to make the diagnosis.
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Morning Coffee you are absolutely right! The one thing everyone suggesting AI missed in the article was that Dr. Huls entered every single one of her symptoms and test results into a computer program and it took him, with his medical training and his ability to rationalize her test results, HOURS to sort through the computer generated results. Technology is a great tool for healthcare providers to help them find information about obscure disease processes like the one described in the article, but as Morning Coffee said, there were probably thousands of computer generated “possibilities” that only a trained professional could wean down to the correct one.
2
I'm sure every person who has become a doctor wishes they had the time to devote to each patient. Unfortunately, the present system does not support giving such time to each patient. Thankfully there are still doctors who spend endless hours trying to find the correct diagnosis. I, gratefully, have a doctor such as this who correctly diagnosed a malfunctioning ileocecal valve. I suffered chronic back pain for 10 years until she properly diagnosed me and now I'm pain free from a change in diet and manual massage to the valve if and when it flares up. I feel I owe her my life!
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I too have a specialist I was referred to, who has changed my life. Before him I was floating around from Doctor to Doctor.
This is where artificial intelligence programs and algorithms could really help doctors. My brother is a doctor and says that most are very resistant to it. No one can remember all the symptoms of every rare disease - but computers can easily evaluate these symptoms and suggest possibilities.
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Agreed, but how will the Insurance companies "code" and reimburse for AI and algorithms? I truly hope the patient has regained something of her quality of life.
The fact that the Insurance Companies are the wedge, and "decide" who gets whatever level of treatment available is almost as heinous as this woman's rare disease. Kudos to the Pathologist. As part of an aging generation, we need more like you.
I don’t disagree but would raise some issues with this approach in our current environment. For this to work, someone has to take a far more comprehensive history and do a much more thorough physical examination than now takes place. In addition, even if the time is allocated, the medical records we are using don’t lend themselves to this in a way that promotes thinking outside the box. In my opinion, the goal of most practices is to stuff everyone into a category that simplifies treatment and requires nothing that would signal a deviation in care from “the standard.”
1
And AI programs also should be used by EVERY doctor to check for medication interactions. I had to tell doctors about the interactions between duloxetine and Flexeril that were causing my father's debilitating hallucinations while in a nursing home. They insisted that he was just "getting old" yet when they dropped the duloxetine, his mental status improved to baseline, which was pretty sharp.
There should be laws to require using AI with databases both for diagnosis and prescribing safely.
1
I think in all difficult to diagnose cases that patients should go to university medical centers. Apart from knowing that a particular doctor in a patient's community is an exceptional diagnostician, there is rarely another good option.
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It is called Academic Medicine, and it surely has its place!
This is a great example of fine physicians at work. Kudos to Drs. May and Huls. (May gets full credit here too for continuing to to work up and think about the patient.). However, I also empathize with the other physicians who could not figure out the case. In a busy office setting, you don’t have time or energy to do 11 page summaries of work ups to date, followed by a literature search. Theoretically, the academic physician has time to do this. The community physician sees lots of patients, and refers to the academic physician when it is too complex. However, in recent years, with cuts to reimbursement and productivity goals for all, academic physicians are less likely to have the time or inclination to do this. It is unfortunate.
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These unnecessary delays in this woman's diagnoses are appalling and came close to tragic.
In my opinion It is an important part of being a responsible patient to be party to all diagnoses and records online. If patients are able to maintain a parallel complete file of findings, then some research and diagnostic clues can be done at home, and each change in medical help doesn't start with reinventing the wheel but connecting the dots.... patients aren't stupid but are treated as such when not included in the paperwork on THEIR OWN ILLNESSES; Don't forget - patients are CLIENTS TOO. They PAY for the diagnoses, and the tests, even if through their 'insurance' companies; they should HAVE THEM automatically.
After a doctor's appointment I now ask for them to email me a record and they are surprised, sometimes offended but when I explain that I need to be responsible too, they get it.
3
It is inhumane.
This is time well-spent--using info better and with testing. More armchair collaboration is needed too.
Reminds me of the value of a diagnostician. My uncle (now deceased) was brilliant in that regard - able to tie tiny pieces of data together to determine what (if any) disease was present.
Thank you for an excellent article.
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The illustrations are wonderful but I often connect more to a story when photos are used; in this case, Dr. May, Dr. Huls and maybe the fortunate patient. With their diligence, these fine doctors changed this woman's life.
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A needle in a haystack? Serendipity? Grace? Curiosity meets challenge?
How many of us are putting up with symptoms that a May and Huls could possibly cure or control. This is a wonderful story with a "happily ever after" ending. But we must face the fact such a rescue may not be our lot. And we can't blame over-worked doctors if they fail to diagnose our malady. After all, they've got 20 minutes to spend with each of us and little time for reflection after we've parted ways.
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The system must change-overworked docs? We are in the information age and we need to use the information and transfer knowledge and collaborate better. The old system cannot work well and doesn't.
Bravo Huls and May. You are both inspirations. I have a friend who, after a serious ski accident, has had fevers and inflamed joins to the extent she becomes bedridden for over 10 years. I wish you could diagnose her. She has had so many tests. The closest (after 10 years of tests and doctors who thought she had psychological problems) diagnosis was pseudo gout - but the pain and disability seem disproportionate. I wish you could diagnose her.
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PubMed, the database Dr Huls consulted, is available to everyone via the Web. Anyone who has the time and inclination can do the same type of search that he did (plugging in all the various symptoms and combing through the research). If you're unsure how to use it, or need some guidance, you can try contacting your local hospital to see if their staff librarian can walk you and your friend through it, or your local university/medical school librarian. If you find something that seems relevant, take it to her doctors. Good luck!
1
Cheers to medical residents and fellows throughout the world who have the energy, enthusiasm and drive to uncover the difficult and evasive diagnosis! This case speaks volumes about the thrill, joy and advantage of medical trainees across the world. I am glad these doctors-in-training were able to piece together this puzzle so that this woman now has a better life.
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I agree that the use of the teaching hospital is key. I work for a public university with a medical school and health care system. Repeatedly, I hear stories of people who have suffered for years before someone steered them to specialists like Dr. May and Dr. Huls, physicians who keep searching for answers because it is a challenge for them to solve. The patient in this story is fortunate that her daughter helped her get to such a facility.
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Dr. Huls is a good doctor. He is the sort of doctor that doesn't just look at records but puts the pieces together for a diagnosis and a cure. Dr. May is also a good doctor who did not give up on her patient and advocated for her with the drug company. This woman is lucky to have found them, I am delighted she now has her life back, may she have many more years with her daughter and grandchildren.
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I want both of you as my Doctors.
Mainly because you actively listen to the patient's description of aliments with a degree of respect.
19
Thank you Drs. May and Huls for your perseverance and commitment to your patients. Your unrelenting dedication to serve others is truly heroic. Thank you for helping the rest of us lead healthy, full lives.
17
This account points up the need to get second and third opinions and to never give up looking for a definitive diagnosis. Too many patients with undiagnosed but treatable conditions simply give up and endure their suffering when helpful treatments may be readily available. The daughter's request that her mother be taken to the University of Alabama Hospital was a critical but often overlooked first step. If local resources aren't providing relief, look farther!
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@David C. Murray who writes "If local resources aren't providing relief, look farther!"
If you have the means and resources to do so.
"When the woman’s insurance company refused to pay for the new and very expensive drug, May appealed to the manufacturer, which agreed, after several months, to provide it. Once she started taking it, the shaking chills and fever disappeared. So did the nausea and vomiting, the hives and bone pain."
The above paragraph is completely unsurprising. Name the insurance company. Investigate them to see how many other members they've attempted to consign to more suffering. Plaster their disregard for human well-being all over the papers and shame them into actually helping people.
All in all, however, this whole article is horrifying-- an elderly woman in a rural area misdiagnosed by doctors who failed to escalate her continuing complaints, who had to travel at significant personal time and expense to obtain a diagnosis elsewhere, and diagnosed only through the persistence and curiosity of one exemplary person. While the specialist in Birmingham is due kudos for taking her on and pursuing tests and closer monitoring, patients shouldn't have to luck into one exceptional pathologist in order to get a correct diagnosis.
Doctors are human, but in an industry as technologically advanced as medicine, and in a day and age where the whole human genome is mapped and available for anyone to access via the internet, the fact that so many patients suffer while doctors run in circles and can't or won't access this information or reach out to specialists is just criminal.
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I very much enjoy reading these. This one reminded me of my father, who died of Hodgkin's disease. He had high fevers and chills every night with a high white blood count. Glad they found out what was going on. I am very thankful for doctors like Hul and May.
Keep up the good work
Retired RN
14
Thank you for caring physicians. This person took some time out to research another person's ills and came up with the correct diagnosis. Bless thee. If only more doctors were like that!
9
How wonderful to read about tenacious, dedicated doctors like May and Huls. It gives me hope.
I feel like Dr. Huls, in particular, is as rare as the disease he diagnosed. How many doctors would be so persistent and determined to figure out the explanation for someone who isn't even his patient?! The whole thing is marvelous.
And how frustrating and senseless that Dr. May has to wrap up her own efforts by spending months trying to get the insurance company to pay for the cure. What a waste of medical training -- will we someday stop this travesty of letting insurance companies deny or delay cures?
I was struck by the reference to the patient's old medical records being stored in an electronic warehouse. Uh oh. Somehow electronic records haven't been as helpful as we hoped. One reason is that whenever the software is upgraded or changed, the old records often get lost or warehoused. And they're difficult to share across systems. This article shows how useful they could be. Imagine if more doctors used your full records to run through a software program to help diagnose and treat you, in the way Dr. Huls did. Maybe Amazon should talk to him as part of its new health care project.
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I was moved by the compassion of these doctors and the intellectual curiosity that pushed them to find a diagnosis when one was elusive. For both Drs. May and Huls, I hope you practice for many more years.
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Thanks to the caregivers, be they loved ones, parents, nurse aides or other professionals for whom giving care means sharing a part of themselves.
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"Huls hadn’t heard of Schnitzler syndrome, either. He came upon it by using the database PubMed to look for a disease that matched the patient’s symptoms... It took hours before articles on this strange disorder began to appear. "
Kudos to Dr. Huls for his excellent diagnosis. However, it made me kind of depressed about the state of medical care in this country. Apparently, Dr. Huls's "hours" on PubMed are supposed represent an example of a doctor going way above and beyond. My gosh, I would expect all doctors to spend hours on PubMed to help a sick patient. Is it really the case that none of the patient's prior doctors had done just this - research (for hours!) what could be making her sick on PubMed? I am an attorney and I spend not hours, but days and sometimes weeks, researching legal precedent for difficult cases. I guess I kind of expected doctors to do the same.
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You, as an lawyer, get paid for your time researching and preparing. Doctors do not. If you are seeing 30 patients a day, it is impossible to do hours of research. There is not that much time in one's life. If MD's got paid $350 or more per hour for all their work, they would be able to spend that time doing the research. An awful lot of what physicians do is not reimbursed. (forms, CME, literature search, answering calls, etc. ) Doctors doing legal work (where they get paid like lawyers) do spend hours going over the details, doing literature searches, personally reviewing the 600 pages of documents etc.
6
Attorneys generally bill for that time. Medical professionals typically cannot get reimbursed for hours of research. I am a neuropsychologist who spends hours (often unpaid) trying to make sense out of perplexing cases. Though I enjoy the challenge and feel I’m providing a service, my family suffers at the hours that I spend away from home and uncompensated.
1
Well, I've done what these docs did on my own time, without payment, out of curiosity or concern about a patient. But I know I don't do it as much as I probably need to. I don't think it's fair to compare lawyers and doctors though in terms of time spent: many lawyers bill for all the time they actually spend on a case. Doctors, unless they work in special situations like a concierge practice, are reimbursed differently -- either by procedure or by time increments -- but even in the latter case, it's unlikely insurance will allow a doc to justify hours of research or coordination of care.
2
I also find it particularly relevant that the patient's insurance company refused to cover the cost of the drug she needed. Without Dr. May's intercession on the patient's behalf, what would her status be now?? That is a "sickening" and all too common insurance response to patient care. It's wrong and it has to change!
27
Bravo! Such a heartwarming story for this Valentines day! May we all find what ails us with the same passion for compassion!
5
The chilling words in this article describe the insurance company's refusal to pay for the drug. How is it possible that a leading country in the western world can settle for a medical system where the ability to pay controls life and death? There can be only one answer: we do not have, as a people, the capacity, will, or heart to change this tragic situation.
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Stories like this are how the word gets out about an unusual disease. Thanks for sharing this important story.
9
The happy ending in many cases.
"It was an important diagnosis to make, in part because there is now a very effective treatment. When the woman’s insurance company refused to pay for the new and very expensive drug,"
4
Good work! PubMed is a treasure. One can get lost for days just reading and putting ideas together.
9
I heart Dr. Forest Huls. What if all doctors were like him?
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Well, after years of practice, we realized that half the medical staff was,by definition, below average.
2
Unfortunately a lot of people go into medicine to make more money than they would in other areas. The dedication that Dr. Huls showed is very rare, and it should not be. This kind of meticulous research on behalf of a patient should be rewarded. I hope Dr. Huls goes on to helping humanity in many different levels. Kudos to him and Dr. May who continued to believe there might be a diagnosis that could cure the patient.
2
And Dr. May also.
2
Could this diagnosis been arrived at by a machine? Some suggestions are to replace MDs by computers. It is interesting to speculate whether this could have happened in this situation.
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Bravo! What a success story. We are living in exciting times for medicine, engineering, technology...and all fields that benefit from the sharing of information. Kudos to the manufacturer for supplying the drug to the patient without regard to profit. The company should be identified and publicly praised as an incentive for other companies to do likewise. Thanks for this story.
8
IS THERE NO "GOOGLEMED" FOR LISTS OF SYMPTOMS
There must be a place where lists of symptoms can be input and a rank-ordered list of possible diagnoses returned, each with a diagnosis-confirmation protocal, possibly with a single protocol for discriminating among the top-ranked possibilities.
Maybe IBM's Watson is working on this; if not, someone should be. We should not be relying on the happenstance of having a diligent and knowledgeable human expert available to all needs everywhere for difficult diagnoses....
10
There are such sites, but the plethora of results is bewildering (not to mention misleading), and to my knowledge all of them (except of course PubMed) are commercial entities that carry lots of ads of the "Eliminate this one surprising food to lose weight!" variety.
This case highlights the importance of time and careful thought in medicine. Most of us went into medicine for two key reasons - we are fascinated by medical science and deeply motivated to help others. Most of us would love nothing more than to do what Drs. May and Huls did; use our communication skills, intellect and expertise to solve a diagnostic dilemma and help someone so profoundly. The thing to note in this case is that Drs May and Huls did important work on their own time. Dr. Huls wasn't even involved in this patient's care; he just heard about it and decided to investigate out of interest. Dr. May spent time (I'll bet at home in the evening) pouring over old records trying to find anything that could have been missed. If we want doctors to take care of the sickest and most complicated patients, we must allow them time (as part of their regular responsibilities) to get off the billing-driven hamster wheel of physician work so they can investigate, think, and learn.
52
The medical profession needs more doctors like Dr Huls and Dr May.
Interested, curious, persistent, caring and willing to confront the over priced US pharmaceutical industry and work around the bad Medicare insurance problems in the US healthcare system, which presents so many obstacles to good universal healthcare!
5
Somewhere along the way this (presumably) young resident learned on his own, or was taught, to ... think. Curiosity, critical thinking and problem solving, along with persistence, led to the solution to this medical mystery. Education that fosters these attributes/skills from childhood on, creates the kind of individual I want on my medical team. Schooling that places value only on learning the particular skills required for a career is doing a disservice to us all.
19
Brilliant, and hats off to Drs. Huls and May. This saga illustrates the importance of global electronic records and search. The Noosphere is upon us.
And thanks to Dr. Sanders for this fascinating story.
5
The sad part is that the insurance company refused to pay for the very expensive drug needed to treat the disease. Only the pharma company was able to tip the balance. This is more a diagnostic analysis of our health for profit system that is damaging all of us. When will Americans have the courage to confront the greed of the pharmaceutical industry to get drug costs under control.
17
I wish to emphasize a sentence in this article which may be overlooked:
"When the woman’s insurance company refused to pay for the new and very expensive drug, May appealed to the manufacturer, which agreed, after several months, to provide it."
This woman had been suffering for years. Yet her insurance company denied her the medication that would enable her to start living again. Luckily, the manufacturer agreed to provide it. But, this woman had to suffer many additional months due to the greed and inhumanity of some in the health care system. It is something that should enrage everyone.
77
I am absolutely enraged by stories concerning greedy insurance companies. What's the sense of going through a long, debilitating, misdiagnosed illness, finally getting the right answer, but then the insurance company denies the right to be treated and live a healthy life because the patient can't afford the outrageous medication price?
4
In fact, even at the cost described by a previous comment of $14,500 per year, it was more cost effective for her insurance to pay for the medication than her repeated trips to the ER. Yet they still denied it!
"When the woman’s insurance company refused to pay for the new and very expensive drug, May appealed to the manufacturer, which agreed, after several months, to provide it. "
American exceptionalism at it's finest.
24
Terrific sleuthing by the pathology resident. But the refusal by the insurance company to pay for treatment is absolutely enraging. Our health insurance system (a misnomer if there ever was one) is a travesty.
15
We need more doctors like Dr. Huls, who had the patience and determination to figure it out. These days our doctors take orders from insurance companies and drug companies.
8
A medical triumph for all involved, except for the insurance company that refused to pay.
It seems even the drug manufacturer had heart or at least devotion to the ethical goals of medicine, nice news after evil Shkreli.
Insurance is a vile industry, profiteering on the denial of legitimate claims.
People's lives are a mere money-game to insurers.
The insurer who denied this treatment should be exposed, & each individual in that insurance company who denied this treatment should be shamed by name.
24
In places like China, insurance company executives who cause harm are executed. I'll settle for the name and shame.
4
Cheers for Dr. Hul, but as well, Dr. Liliane Schnitzler who recognized and "packaged" the disorder.
15
These doctors are miracle workers. Kudos to Drs. Huls and May.
5
I am a retired MD at 81, and once again am led to a sense of despair with our Health Care System that this woman was initially refused curative treatment because she could not afford the cost of the medication--it should have not even been an issue or even a matter for negotiation with the drug company. What is the MATTER with us?!!
1934
Dear Victor,
I too noted this heart wrenching aspect. As a voice of reason and a Doctor I hope you get out there and help those around you see that our current health system is dysfunctional and all about profit. One person can make a difference!
3
We have a flawed health care system. And American policies at every level and on every issue are driven by corporate capitalism and greed. That is what the matter is with us. Easy to define, impossible in our current political iteration to correct.
2
@ Dr. Victor Hurst III:
As your are, I assume, very much aware, the MATTER with the US is the extraordinary ability of way too many politicians, mostly Republicans, to correctly diagnose the US health care system.
The symptoms are very clear--highest per capita medical costs in the world with a huge percentage of the population not covered or under-covered versus lower costs per capita to more effectively cover everyone it virtually every other western democracy. And the difference--some form of single user universal coverage.
Unlike the story here, there is absolutely no mystery to the US disease except for the insane capacity not to adopt the obvious solution.
2
Great article. Having suffered with a soup of maladies several years ago I was very fortunate to have a caring genius GP, who has since retired. You can bet the Dr. Forest Huls name will be saved in my medical files.
7
The woman was very lucky that the university doctors figured out what was wrong with her--and that the drug company then agreed to give her the medication for which her insurance company would not pay. The rural poor in our country frequently do not have access to adequate medical care. This is another ad for the inequality in our health care system.
810
Jennifer, Agreed, but it is hard to fix that inequality by staffing small rural clinics with specialists. The combination of telemedicine and AI diagnosis may soon make difficult diagnosis much more possible than now. The economics of this remain uncertain, although we cannot count on compassionate support from the congress.
1
Yes the manufacturer agreed, after "several months". Imagine another 4-5 months of the suffering this person went through. The insurance company is evil to outright deny.
I think reading through the lines the only reason is becuase the manufacturer which I bet I could find was told this was going to be a story in the NYT.
2
... and the urban poor as well ...
1
This is very interesting but also confounding. Pubmed is a widely available database. Why didn't anyone else check the woman's symptoms there? How many other undiagnosed cases of Schnitzler syndrome are there? Perhaps Pubmed could be made more user-friendly, or a new, perhaps AI-based interface developed for overburdened medical professionals.
Dr. Huls should teach his methods at every hospital in the country.
141
How do you teach dogged persistance? Dr. Huls may owe his parents for that.
Thank you for sharing this wonderful story.
1
Kudos to the doctor for recognizing this rare affliction and to the doctor who wouldn’t give up trying to help her patient. What really strikes me however is the fact that this woman’s insurance carrier refused to pay for a medication that so dramatically improved her quality of life. I am also appalled that it took several months for the makers of this medication to agree to supply the woman with it. It is amazing to me that in this great country of ours someone could be denied this necessary medical treatment. Shame on us.
36
amazing story, GREAT ending!
4
Good to read about a happy ending. Isn't Watson, the IBM computer, supposed to have this sleuthing capability, or is that just wishful thinking.
6
Watson may someday do this. Reports are that, so far, it mimics its human trainers reasonably well, but isn't really making the tricky diagnoses. I haven't heard enough to judge whether the limitations are inherent or whether Watson just needs broader training data.
Dr. Forest Huls' curiosity & dedication to his profession changed the life of this patient. Good on him.
4
Now that is the proverbial hen's tooth, that is not even at the bottom of the differential diagnosis of so called fevers of unknown etiology (FUO). However, something worries me about the definition of the disorder, the monoclonal IgM. Monoclonal gammopathies are common as you get older and in many cases are precursors of a lymphoproliferative or plasma cell disorder. Inflammatory conditions are predominantly by definition "polyclonal" disorders.
2
Artificial intelligence for diagnosis cannot come soon enough!
8
Why am I surprised that this poor woman's insurance company denied the request to use a new and very expensive drug... Our insurance companies are the real 'death panels' but don't expect the Republicans to jump on that one - they (and the Democrats) get too much in bribes, er, campaign contributions to go against a large donor.
20
Why is the specter of government 'death panels' so frightening when insurance companies have been doing this all along?
With the exception of the drug, from where did the money come?
1
What's the name of the medication?
1
The INSURANCE COMPANY decides when a treatment is necessary??? Only in America.
384
Yes. For all those who say: I don't want the government making medical decisions - do you realize that the reality at the moment is that it is someone with zero medical training in a cubicle back at the insurance company? Does that make you feel better?
4
This is why teaching hospitals, with a mix of new and experienced doctors, are so important. Sometimes it actually is a zebra.
36
Name and give credit to the Swedish manufacturer of Anakinra.
Thank goodness they stepped in after the patient's insurance company refused for "several months" (!!!)
184
Thanks for this information. Now could we have the name of the insurance company?
One can only hope that doctors, curious like Dr.Huls will be found everywhere.He is someone who thinks outside the box while others are rummaging the limits of their education.
6
wow, awesome! Happy the patient is no longer suffering!
2
Thank goodness the young pathologist could take the time to put it all together. What enraged me, is the insurance company playing God with the patient's medication. How dare they?
27
The insurance companies do this all the time. If not refusing outright to pay they move whole groups of medicine to high tiers where they only pay a small percentage of the cost.
Most troubling to me is that the insurance company refused to pay. Ridiculous verging on criminal behavior.
47
huls...you the man!
6
One tenacious person can make a difference! Dr. Hul is a blessing and doing what he is most definitely called to do - heal!
7
How refreshing. A pathologist who seems to know everything about everything, but for a change, not too late.
6
The Pathologist saves the day!
6
I don’t understand why it should have taken hours to diagnose this disease or why it was not diagnosed years before it was. Is the state of computerized medical diagnostic information so disorganized that a MD can’t simply plug in the symptoms, fevers and chills, loss of appetite, elevated white blood count, strange antibodies etc, and come up with a match In under a minute? If that is true, there must be many, many mis-diagnosed patients being treated for conditions they don’t have. Are we doing anything about this reality??????
563
When people in tech talk about innovation, normally it's rubbish. This however is one of the fantastic examples of areas where better software can really make a difference.
And naturally no-one will look at it.
Because arriving at a medical diagnosis isn't just plugging in symptoms to Google/PubMed/any search engine and looking through the results. If that's the case, then doctors could be easily replaced by WebMD.
There are so many diseases and doctors are taught to look at the more common ones first and then the rare ones later. I haven't even heard of this disease because it wasn't in any of the hundreds of books I have read throughout med school. Not all diseases are clear cut in its definition too.
Maybe instead of complaining you should try making a program that can replace a doctor. We at the Medical Informatics department have been trying but we are a long way off.
18
Over the years, some systems have come and gone to help doctors put together a diagnosis. However, the most important component is not yet another app or piece of software but TIME and a dedicated physician. One of my best med school professors used to say that if you are still puzzled by a patients' symptoms: "Go back and take the history (interview) them again. The patient is never a poor historian: rather you are asking/ focusing on the wrong questions." In this case, it makes sense that trainees picked up on things that others did not. No shade to Drs. Jori/Huls here: they're going to be great docs. However, clinical pressures make it very hard even for those who are dedicated/ curious to have the time/ energy to deep dive into records or research for as many patients as they would like to.
9
What was the name of the drug for this condition ?
1
Great story!!! Dr. Huls has a great future.
4
Great work by all the doctors trying to help. So glad the patient is finally being helped by the drug treatments.
It seems there have only been 150-200 cases diagnosed world wide since 1972.
The French started orphanet in 1997 as a resource for gathering and organizing information on rare diseases. Their site indicates it often takes 5 or more years to diagnose this disease, or at least it used to.
If interested have a look:
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=37748
9
Thanks for the link.
1
Thank goodness for the persistence of a curious mind!!
7
Using PubMed is the future of clinical diagnosis.
3
This is a most interesting and informative article. Thank you.
4
I hope there are more like Dr. Forest Huls out there . . .
21
There are other Doctors who care. I live in Mexico & at flue shot time, our wonderful doctor showed up at our apartment complex with shots for all the Gringos and proceeded to inoculate all of us. Thank you D. Z
2
There is no substitute for a physician dedicated to helping a suffering patient. The database was invaluable - and this is an ad for use of electronic records - bit it still required a person to take personal responsibility for the search. Dr. May took the patients complaints seriously; Dr. Huls saw this as a challenge instead of a burden.
What is troubling still, is that had she been unable to go to the teaching hospital, the woman would still be suffering - or maybe dead. And with a diagnosis of fibromyalgia.
A very "House" kind of story ( that's good!)
895
Is there really "no substitute"? Not to diminish Dr Huls' compassion and investigative acumen in the least, but wouldn't matching an unusual and exotic set of symptoms against a voluminous set of clinical databases be exactly the sort of task a medical artificial intelligence system be suited for?
8
@cheryl. Great to see the happy ending to this story. MDs are basically trying to do a computer's job every day. They are provided a bunch of symptoms and demographic facts. They then run an algorithm in their head to decide which tests are relevant and appropriate from a cost standpoint (you can't be giving expensive scans and tests to every person with an ache or pain). They match up the results to whatever knowledge of disease they have assimilated from their education and journals. This process can be repeated several times before a definitive diagnosis is reached. The algorithms used for this vary from doctor to doctor because their knowledge and experience vary. This is not ideal. Teams of specialists could devise algorithms that all physicians would use by simply entering the results of their exam and testing into an application. The application would narrow the diagnosis and prompt for further testing as needed. In this sense, reducing the human factor would be a benefit to us all.
6
A very "House" kind of story ( that's good!)
1