As a pathology resident, I'm curious to know what the stains were!
34
Simple ignorance abounds. Now, anyone who read this knows there is undiagnosed review programs available?
10
Thank goodness for close friends!!! And of course for the skilled, caring medical professionals who pursued his mystery diagnosis.
8
Sure, there was luck involved, but thanks to the New York Times and their international reach, more patients with similar baffling symptoms will get "lucky" too. The diagnosis feature is one of my favorites and I hope someday to pass along an insight I found here and help someone else.
I firmly believe in (public and private) published research benefitting the common good. I received a late diagnosis of an uncommon cancer and survived because one of my oncologists avidly reads research journals and remembered a case at Cleveland Clinic. He got me an appointment there in time, and I'm in my fifth year of remission. The best scientists are relentlessly curious, and hone their diagnostic "luck".
30
How wonderful this young man could be correctly diagnosed and his life saved. A special thanks to NIH, but also to the family friend who took action instead of the "thoughts and prayers" routine. But something troubles me every time I read Dr Sanders' remarkable column: how much does all this cost and are the families insured? By the time I was old enough for Medicare, my health was ruined. I am a staunch conservative, but I have to believe in Medicare for all.
32
Today, the NY Times Magazine published two stories about ill children and both remind us about the fragility of health and the limits of medical miracles. The first story is about hospice for dying children with incurable conditions and the second about the persistence of doctors who found a cure. Not a coincidence, I suspect. Thank you.
8
What kills me about this story is the physician who said, in effect, "We have no answer. Come back in a few months." As though they'd find something different then.
19
@Frank O
Sadly this happens more often than you think. The idea being that you may have additional symptoms in a few months' time, and the new symptoms will be the ones that finally help the physicians solve the puzzle. I've known several people (myself included) who have been told the same thing. It's always small consolation to be given this "advice" from your doctors when you, the patient, *know* there is something terribly wrong.
16
My heart goes out to this young man and his family. I am a professor of pathology who often diagnoses lymphoma. I am grateful for the comments that illustrate for my trainees the importance of a definitive diagnosis. This child was cured, but he suffered to get that cure. Every pathologist knows the shattering impact of a cancer diagnosis. In light of that impact, I have only praise for the pathologists who refrained from diagnosing lymphoma when other diagnoses were possible. Sometimes, time is a necessary diagnostic test to distinguish malignant from benign.
Dr. Sanderson’s use of crowd-sourcing highlights how shared stories could advance cancer science. I am reaching out to anyone who may have lymphoma in a part of the body that experienced trauma. Several years ago my colleagues and I described how, in young people, lymphoma occurs more often in the knee than other parts of the body (www.ncbi.nlm.nih.gov/pmc/articles/PMC4201907). Because the knee is a frequent site of injury, we think that physical trauma might be a trigger for developing lymphoma. The cells that drive inflammation are lymphocytes; mutations in these lymphocytes could lead to cancer. If you were diagnosed with lymphoma at a site of trauma (even minor trauma, like a bump to the head or where you habitually hold a tool), please contact me using the email address in the manuscript. A specimen of your lymphoma might help us learn why this cancer develops.
51
Am I wrong, or should the name of ALL of the MDs be preceded by “Dr.” at their first introduction? In this article, only the male MD’s name, Dr. Gahl, has that honorific. Shouldn’t Drs. Novacic and Fanburg-Smith have been capitalized at their first mention, as well?
13
@Kelly Daniels
Your can either use the degree (MD) or Dr - not both. There is no misogyny here. I generally prefer MD after my name in writing since there is always some confusion about non-physicians who are also called “Dr” - PhD’s and PharmD’s as well as nurses with doctorate degree. In speaking to me the salutation is Dr, of course when I am with patients. I am a woman physician, well known in my field - I have experienced plenty of discrimination based on my gender during my 25 year career but believe me - this isn’t discrimination or misogyny- or even lacking respect.
20
Tears.......good byes
The Human condition and our better angels.
3
May health and good luck always be with these healers.
6
Another story of a miraculous stroke of luck that indeed resulted in a correct diagnosis. In an age of mandatory health insurance and sky high medical costs, something as simple as doing a re-test does not seem like a herculean task when it comes to he highly paid, highly " trained " doctors at the Mayo Clinic. At the end of the day, what it took what someone who really cared and some extra effort. Essentially her friend saved the life of the patient here , not anyone at the Mayo Clinic. It really makes you think about the oath to " do no harm " because in this case , complacency and most probably ego , really cost the life of this patient. This might read as a feel good story , but my take away was - ' I hope she sues the pants off of those first doctors for mal- practice. ". When is the American medical-health care system going to bump it up to an expert level?
25
@danish dabreau
What an incredibly nasty comment. You appear to believe that just because the doctors at the Mayo Clinic failed to establish the diagnosis, that this is evidence they are incompetent and/or do not care. I am a retired physician, so I may see this from another perspective. I have always had nothing but the greatest respect for "The Mayo", and welcomed their help when I was not smart enough to either diagnose or adequately treat my patient(s). I am glad that others realize that an honest effort is not the equivalent of malpractice; most of us human beings are imperfect. I assume that you have never failed in your endeavors? If only you had the opportunity to realize the hours of thought and effort that went into evaluating and re-evaluating this lad's rare problem by highly competent and caring doctors.
96
And therein lies the problem, the leap to lawsuits.
34
@CSA
Common sense should tell us that very rare medical problems are very hard to diagnose. The medical world may not yet have developed good tests for a rare problem. I would not fault Mayo. I would be grateful that resources of the NIH or associated with the NIH are set up specifically to help diagnose our most difficult cases. FURTHERMORE, like others I would recommend increased support of the NIH and the NSF and university research as well as health care for all.
91
Miracle-a surprising and welcomed event that is not explicable by natural or scientific laws and is therefore considered to be the work of divine agency.
The mother's best friend and her actions in this story more than meets that criteria.
19
@Liz
Humans had nothing to do with it?
10
So nice to read a happy ending.
5
The program at the NIH is amazing but very limited.
The lesson in the article is very true though - better a known dire enemy than an unknown enemy.
9
A very well written article. The parents were persistent as you have to be. Good luck to the boy.
7
Sadly, had this Lad lived in any other County he would have died. We should think long and hard before trying to replace our health care system, we should try to improve it, not replace it since no other health care delivery exist that is better.
7
@Phever: A totally unsupported presumption, based on another - that we, being America, must therefore be the best at everything. The common corollary is a presumption that other nations' health care is sub-standard. Neither is true.
The last I checked, the USA's health care system ranked 38th or so, +/- tied with Costa Rica.
32
@Phever What a ridiculous statement. I shudder to think what the ending of the story would have been if there was no health insurance coverage for the family.
11
@Phever - Sorry, but there are plenty of countries, even some with... wait for it --- universal health care systems (I know, the horror, right????) that have high quality and, in some cases, better, health care services than what we get here in the good old USA.
As a rare disease patient in frequent contact with other rare disease patients across the globe, I know this to be a fact. I also read publications from researchers and physicians from all over the world who are studying my condition. Many of these doctors are years ahead of where their U.S. colleagues are in terms of understanding my disease.
And if you don't believe me, ask my friend. He suffered from a constellation of symptoms that his U.S. doctors mistook for a certain disease. They treated him for years and years with chemo and other potent drugs. His health continued to precipitously decline until, while traveling, he ended up at Karolinska Hospital in Stockholm, where he finally received a correct diagnosis, was successfully treated by the Karolinska doctors, and is now doing well.
20
Dr. Sanders, Are you able to tell us the specific type of lymphoma? Thank you.
@DocG
I am not Dr. Sanders, but the diagnosis mentioned in an earlier response-to-comment was: diffuse large B cell lymphoma of the bone.
4
AI for diagnostics can’t get here soon enough. No ego. No confirmation bias. No fatigue. No financial motive.
4
That's what I call a best friend!
14
The article, while interesting, contains a poor description of the role of an anatomic pathologist. These doctors know the microscopic pattern of normal and pathological cells and they can identify and classify these patterns and advise clinicians as to treatments and prognosis.
12
In this health emergency it took persistent parents,
locating the medical research facility that could diagnose the problem, finding the right doctor/doctors,
caring friends, money and the ability to travel.
It takes a great deal to absorb and resolve difficult health problems. We must work together to insure that this country has an excellent and affordable health care system for all. ACA was a beginning. Going forward we must vote for leadership that commits the nation to such a system.
61
I’ve been reading quite a few of these NYT articles about difficult diagnoses. Seems like the patients who go to Mayo never seem to get an answer there.
8
My friend went to Mayo Clinic in Arizona to find the cause of her life-long migraines and to finally find a treatment. When she got there she asked about a sleep study since her headaches occurred at night; no, not needed; we are the doctors, you are the patient. After spending many weeks there, with dozens of tests, she was given a diagnosis: migraines. Cause: unknown. And when you get home, do a sleep study...no time left to do that. Treatment suggested: the pills she was already taking.
16
@Elizabeth Mirant The Mayo Clinic in Arizona is not that great. Should have gone to the one in Minnesota or UCLA Medical Center.
Dear @Rose J,
So? Are you saying because you have read several negative stories about the Mayo Clinic in the New York Times that you have reached an informed conclusion that the Mayo Clinic’s excellent reputation as a medical center is questionable?
What is questionable are your critical thinking skills. I hope no one in your family ever seeks your help with medical advice.
By the way, I have nothing to do with the Mayo Clinic, nor do I know anyone who works there. I have no idea whether the Mayo Clinic deserves its good reputation or not. I’m just pointing out that your thinking, if you can call it that, is suspect.
2
Everyone, please call your representatives in the House and Senate and advocate for increased funding for the NIH and FDA. Our lives depend on it!
68
Isn't this the same organization the Trump administration is also downsizing?
28
@Linda
If it drains government funds with no lobbyists, probably so.
2
@Linda Is it? A link to the reference would not leave this ambiguous.
@Linda
I remember reading an article that Trump was slashing this budget. I will have to Google it, but I do remember reading how doctors across the country depend on the info they find here and were upset about the budget. Maybe it was reversed since it wasn't mentioned here.
Thank God!
10
@Ginger
Thank God for the downsizing of NIH and FDA? Did you actually mean that? These are the organizations that explore the causes of diseases and other dangerous conditions and find solutions and/or prevention. Before the Trump administration cut their funding, they were leading the world in the identification and elimination of diseases and other physical problems all over the world.
You should thank whatever God you worship for their existence.
6
To pay the charges of an array of doctors and for the numerous tests, then the chemo treatment, this family must have had fantastic health insurance and/or substantial financial resources. Details, please.
What about the many hard-working families of modest means, living paycheck to paycheck? Their sons with similar symptoms -- dead from the lack of a diagnosis and treatment. The American health care system as it too often is. (Nothing great in that!)
And what's ahead in the way of health care for the young man who was finally diagnosed and treated successfully. (Hurrah! Will he be able to get comprehensive health insurance without annual and lifetime limits at an affordable cost without regard for his cancer diagnosis (that would be great America), or ... will he be cast out of health care insurance issuance because of his misfortunate of having had cancer? (An America of shame)
Our political leaders should answer about what they propose and will work and vote for.
64
@JimPB In some states the best insurance a child can have is Medicaid. I practice in California and 90% of my patients are in that program (we call it MediCal here). In my county, we have access to the best Pediatric specialists in the state and the program pays for everything. They do not necessarily pay well, but every doctor at the Pediatric hospitals accepts it. Sometimes I have to ask for permission to use expensive drugs, but permission is almost always granted. The ACA has enabled the "working poor" and lower middle class to access MediCal, so good medical care is available to most who live here.
34
Amazing that a major institution like the Mayo Clinic missed it. Didn't any of the pathologists or oncologists mention this service? It came down to a friend investigating options on the internet. Very scary.
51
@Kathy
Yes, Mayo should have referred this patient to NIH Undiagnosed Diseases immediately.
Every doctor in America, but specialists in particular, should be aware of what assistance government labs/diagnostic centers may offer in puzzling cases, and act promptly to refer.
9
@Kathy Why is it 'amazing' that rare, difficult diagnosis are missed?
1
After being mis-diagnosed for many, many months, I was told I had GERD a common reflux disorder. But nope they were way off. I actually have now late, stage 4, stomach cancer.
So get the second or even third opinions ASAP.
Do NOT wait, not even one day.
91
@cfBest wishes to you. Your caring comment is an example for all.
7
cancer chemotherapy can be incredibly difficult to endure, or mild depending on the illness. One thing it is not "selective poison" As in this story, it is life saving and it freed this young man of his pain. Any trained physician should not call chemotherapy "poison"
12
My oncologist pointed out that it’s the dose that makes the poison. Chemotherapy drugs are poison. When given at the appropriate dose, the benefits (killing cancerous cells) outweigh the miserable side effects.
33
@Honeybluestar
Had Chemo, too. Sorry, but it is like being poisoned. I had 4 poisons for 9 months and another for a year. None of it is mild.
Sigh.....
23
@TapGirl
Why people don't believe YMMV I'll never know.
There are different forms of chemotherapy, and each person's response is different. And each doctor has their own way of treating or not treating side effects.
5
So often, it is a matter of running into the right person. Not necessarily the most skilled person. but the right person who feels that 'can't find it' doesn't mean 'it isn't there'. And then what? The right person will do the right thing.
18
Why aren't the physicians aware of this program on diagnosed diseases. It seem if they can't solve it they pass it along. They are extremely well compensated and constantly tell American how well trained they are. Yet in so many of these stories they just pass the buck. I was a software designer, I can't imagine anyone in my profession ignoring a bug that baffles them. I would have been fired if I had shown that much indifference to a problem, shrugged my shoulders, and pass it onto another person.
33
@GUANNA
I have had several doctors speak to me about the program, but between compiling all the information and having a full-time job and a family to take care of, it's difficult to sit down and find time. Clearly when we are talking about a child it is different.
My health insurance company said that despite my worsening condition and it being 17 years since I had a biopsy, which was proven wrong, I had to pay $5,000 out of my own pocket to get results.
6
No need for any special institution for this diagnosis only experienced pathologist. Common knowledge that inconclusive biopsies needs to be repeated and that histology needs expert reassessment, particularly in cases like T-cell lymphoma, in which monoclonal cancer cells may be missed initially..
33
@Jonathan Kaplan All Pathologist claim they are experienced or they at the least want us to believe it. Is a lack or curiosity a problem in medicine. Is there a serious problem in how we train doctors.
10
"Julie C. Fanburg-Smith, the N.I.H. pathologist assigned to this case, was an expert in rare cancers."
We are lucky to have knowledgeable scientists like Dr. Fanburg-Smith to help with difficult diagnoses in the US. Interesting article about the NIH Undiagnosed Disease Program.
102
In 1992, my daughter then 8 years old had various complaints. Her father noticed that her spleen and liver had enlarged and within a week she was diagnosed with leukemia. I was an RN and had disliked my pediatric oncology rotation 12 years before. She endured 25 months of intensive chemo but survived. She hasn’t spoken to me in about 10 years. I’ve found that this response isn’t unusual when a child has lost her childhood but it has caused me such pain. My marriage didn’t survive either. I’m hopeful that this young man continues to thrive.
41
@Annie
Thank you for writing about this painful experrience with your daughter's cancer - painful for her, her father, and for you.
There are some things which can just never be fixed. Your daughter's cure was apparently so awful that it drove all of you apart. Such extreme treatment and its consequences ought to be accompanied by psychotherapy for all participants. You did the right thing by helping to support your daughter. Perhaps someday she will forgive you. In the meantime - try to help other children. Perhaps that can bring you some measure of accomplishment and closure.
55
@Annie
My heart goes out to you. You've endured the impossible. My daughter had serious illness in her preteen years. Our relationship cooled and that hurt. She's now 40 years old, with a husband, two children, and a demanding career where she excels. We've drawn closer and that is so gratifying. Maybe you will have such luck. (Her father was very divisive. I divorced him.)
59
@Annie Dear Annie, how terribly unfair to you and your family. Life takes some very painful twists and turns. I am hoping that somewhere somehow you can find your way back at least to your daughter......IF that is something you want. I would reach out to her continually. Snail mail cards notes holiday greetings kind words of encouragement etc. Be the grownup.
4
What a wonderful story!
9
This kid is lucky to have rich/wealthy parents with insurance. I wonder what would have happened if he was poor and of course working class?
25
@brenda Which is why the Affordable Care Act -- (aka Obamacare) remains such an important resource for all Americans and must be continued and expanded.
120
@Annie Sometimes you still have to fight to get what the ACA mandates-insurers will pretend that it isn't covered- then the patient has to do through the appeals or file a complaint with their state insurance dept. Twice when I had preventive care checkups I was billed even though my doctor and I followed the rules to the letter. This month I had to fight to get the CDC-recommended adult measles vaccination-after fighting, the insurer now says it is covered. Patient advocacy also needs to be expanded to get the eager preventive care benefits we are paying for.
40
@ConA
I've been there. Write brief, tightly written letters and send them to everyone....Presidents of insurance, hospitals, senators, representatives, and anyone you can think of . Give a deadline (week) to respond.
19
So the perennial question: What is the lesson here?
Was the NIIH team extraordinary or did the Mayo Clinic not do a complete job?
The lesson for patients is, keep trying and there is always the NIH, but what is the lesson for the doctors who missed the diagnosis (and suggested "wait and see" which would have proved fatal)?
Should the Mayo Clinic at minimum have suggested the patient seek help with the undiagnosed cases program at the NIH?
It seems that Mayo's attitude was, if we can't figure it out, no one else will.
69
@LdV It took an expert in rare disease, so...
I am happy the boy got a correct diagnosis and successful treatment with the help from NIH.
As citizens we should be aware and appreciative of the work of researchers at NIH and NASA which our tax dollars support. Quite often cuts are made to budgets of NIH and NASA by ignorant politicians that we elect based on our provincial and religious interests. Everyone one of us should communicate to our Congress(wo)man/ Senator that we value the work of NIH and no cuts should be made. By law, these institutions should also be exempt from furloughs and shut downs caused by the Congress or the President.
Would it have been better if the medical professionals who failed to find the root cause referred the case to NIH on their own? Such a protocol will help patients with limited knowledge and resources.
"internet search provided a name "- Internet was originally funded by research money from DoD. Research has quite a few unintended and happy consequences.
155
Please support NIH. They did all the hard work and then some. And kudos to this woman's friend for spending time to find a different way to approach this and for the "lucky" phone call.
175
Where are all the usual "doctors know nothing, trust yourself/ your body" and "I use this or that homeopathic remedy" comments?
Sometimes highly trained medical professionals are THE only answer.
30
@RLiss Yeah, and the highly trained professionals at the end all be all Mayo clinic totally missed it. You would think since this is their area of expertise they would have at least known to suggest NIH when they came up with nothing. Sounds like they just didn't care.
20
@JW
Missing an incredibly rare and out of place disease is NOT uncommon. No-one should be blamed fro this,
32
@Kevin
people go to Mayo (and pay alot of money) b/c they sell themselves as the place to go when no one else can figure it out. You think the Drs. there aren't aware of the NIH undiagnosed diseases program? Yes, their failure to raise that option to the family deserves blame.
45
I wonder if there is a similar program for difficult to diagnose disease in the canine community.
5
@kat pa Until we have health insurance for all, I would not support tax dollars going toward saving a pet.
5
@fireweed you could be more generous and assume @kat meant just a similar kind of referral program even if private
5
@kat pa - There certainly are. One, at the University of Arizona is doing significant research on Valley Fever in dogs, which research is supporting the much less well-funded research on Valley Fever in humans.
6
Most of these stories on NYT are resolved with luck, the medical system is broken if it takes luck to get a diagnosis. Thousands yes thousands maybe more Americans are ill without a diagnosis, without hope . As this boy's family experienced if you don't have an illness that shows up on the usual tests then you are on your own. Mayo just repeats testing and maybe throws in a few new ones.
These stories are always about solved cases not the cases of people still desperate for an answer.
20
@Chelsea It's not luck. It's knowledge. You can't make a diagnosis if you don't know that the condition exists. And that's the point of these articles - to spread knowledge about complex or rare cases so that the next time a person comes in with similar symptoms the doctor or resident or even parent might recall reading about this article and ask for a test to check that it's not that kind of lymphoma.
26
@Jill "...to spread knowledge about complex or rare cases so that the next time a person comes in with similar symptoms the doctor or resident or even parent might recall reading about this..."
Shouldn't the article be in JAMA, if doctors need to read it? And "might recall reading it" is not a matter of knowledge but of luck, because they also just as easily might not.
5
@Chelsea It wasn't luck at all. It was that the person who finally made the diagnosis was smarter, more open minded, better informed, and diligent. Some of those things can be taught.
11
When even the Mayo Clinic can't diagnose your condition, it seems like there's no hope. Thank goodness for the friend who persisted!
31
It would have been nice if you'd shared the actual diagnosis.
But thank you for highlighting the role of pathologists. We work behind the scenes but we are a very important part of the diagnostic team.
11
@ES It
It's in the article: "The teenager had a rare and aggressive lymphoma of the bone. Lymphomas are cancers of lymphocytes and normally originate in the lymph nodes. Not this one. The clumps of lymphocytes seen in the bone marrow were cancerous — but it took some unusual stains to reveal that."
8
@Lisa Wesel
The quote of “rare and aggressive lymphoma of bone” is not a diagnosis, it’s a category.
There are numerous diagnoses that it could be within that category. Molecular profiling can help sort them out, you can’t tell just by looking at it with the microscope.
6
@ES The diagnosis was diffuse large B cell lymphoma of the bone, Stage 4. I have it from a good source (a family member of the boy).
20
Of course the NIH is a government agency, and the Right Wing will under-fund it, declare it to be socialistic, and then declare unborn life as sacrosanct. Amazingly uncritical and heartless.
62
Wow great story.
6
My guess was going to be muscle cancer. My daughter just had a 21 year old die from muscle cancer, her foot was sore, the thought from kicking the soccer ball.
5
history and science can turn on a dime.
thank you !
8
I will google it, but I have no idea what a stain is and why there are some stains readily readable and others not. Maybe one more paragraph could be helpful to the reader.
Happy for the boy and his family.
5
@Sm The article is very vague about what sorts of stains were used, but the term in general refers to various chemicals that are used to make it possible to see specific molecules that are present in the tissue. I suspect that Dr. Fanburg-Smith was using a particular antibody that would adhere to a molecule in the cancerous tissue but not in normal tissue. To make it possible to see where this antibody was sticking, as second molecule would be added that sticks to the antibody to make it visible so that the investigator can see where it's located. That's why this method is called staining the tissue.
There are other staining methods, but that's the most common one for this sort of situation.
14
A “stain” is essentially a dye consisting of a chemical that is attracted to a particular substance in a cell. There are hundreds of these stains, each specific for a different cell structure or molecule. “To stain” is also a verb, so these dyes “stain for” a substance, such as fats, DNA, etc. The trick is to use the right stain that will color a substance or cells that are abnormal in a way that you can then see it under a microscope. I wonder how many uncommon stains the pathologist tried before the “aha!” moment
when something showed up.
9
So, do you want the government involved in your health care?
Um, yes.
182
I so appreciate the New York Times for this type of informative article which I'm certain has helped many. Thank you for excellent medical journalism.
71
A good word here for the NIH and the government physician who took the friend's call on a Saturday. Government agencies and dedicated public servants are often better positioned than the private sector to tackle some things that benefit from a national perspective or approach or are too expensive (relative to the return), too fraught, or affect too few people. A good, and not unusual, example of the kind of work that taxpayer dollars fund that is so important to the health and well-being of Americans but often hidden until it affects our lives directly.
107
I’m having trouble with those statement: “That school year, he had thrown himself into sports with enthusiasm — first softball, then basketball, playing almost every day — so his mother wasn’t surprised that he was having pain, only that he complained about it.” The parents weren’t surprised that the child’s knee hurt? A healthy, athletic kid that age should not be having chronic knee trouble. Be surprised. And sports every day? Maybe it would be good if parents curtailed the intense activity of a growing child.
6
I’m also not clear on a crucial part of this story. Were the earlier tissue slides inconclusive because the doctors did not know to look at the marrow, even though it was stained? Or was the marrow not stained, and therefore examined? If the latter is true, why would that be? It’s illogical not to look at both bone and marrow. What I want to know is whether the boy’s doctors were hampered in their diagnoses by having decided beforehand that this was bone cancer. That’s horrifying, if so.
I’m not in any medical field, but have had members diagnosed with various cancers, lymphoma and bone cancer. So I have some familiarity, unfortunately.
1
@Passion for Peaches The marrow was stained but it was stained to look for one kind of cancer cell, not the kind of cancer cell the boy had.
10
@Jill, a quick Google tells me that Prussian Blue is used for both bone and marrow sample staining. Someone please tell me how it would be different.
Though I am not a doctor, my first thought as I read the story (before the diagnosis was revealed) was lymphoma. That's probably because I have a friend who thought he'd banged his shin during a softball game several years ago. But the pain became intense over time... and he made repeated, desperate, late-night visits to his local ER in NYC. Each time, they examined him, looked at his X-rays, and said his bone was just fine, and so was he. This went on + on for months, often with excruciating pain. Finally, he said to himself: 'I am not crazy. This pain is real.' He called a cousin who's an MD and told him what was going on. The cousin advised the patient to go directly to a leading cancer center in NYC and get checked out. There, they soon diagnosed lymphoma. Apparently abnormal cells, proliferating in the marrow of long bones of his shin, were exerting extreme pressure from within... something that would not have shown up on the ER's X-rays. So, yes, the pain was very real. My friend went through chemotherapy and other brutal treatments (with complete hair loss et al.) Finally, he emerged cancer free... in full remission. Many years have passed without recurrence (knock on wood).
72
@Ess Lymphoma was my first thought, too. My husband's bone marrow was packed with lymphoma when he was diagnosed in December 2014. He hadn't been feeling well -- he was achy and had a low fever, and the first thought was that it was a virus. Fortunately, he was scheduled for his yearly physical, and the bloodwork showed his platelets were alarmingly low. After two bone marrow biopsies (the first was inconclusive) and a PET scan, he was diagnosed with stage 4, aggressive, double hit, diffuse large B cell lymphoma. After several rounds of grueling chemotherapy that required hospitalization for about a week at a time for about six months, followed by a stem cell transplant, he has been cancer free since June 2015. I'm so glad to hear the young patient finally got a diagnosis and is cancer free. And let me give a shout-out to the Leukemia & Lymphoma Society. They were very helpful in providing resources and names of specialists to consult.
67
@Ess
As a physician,I kinda knew the lymphocytes seemed in the wrong place. The issue here is that Lymphoma is a tumor of bone MARROW, the inside of the bone, and the boys lesions were in the cortex, on the outside. This case sounded very much like an osteosarcoma.
Lymphoma of the cortex is exceedingly rare, which is of course why it took 12 months and puzzled some of the smartest doctors in the world.
69
@Kevin, I never know whether people are who they say they are here (think of that “On the Internet no one knows you are a dog” New Yorker cartoon). But my question is this: once the tissue samples were taken, why would the marrow not be stained/examined anyway? Even if everything pointed to osteosarcoma, the marrow tissue was there. Why not look for abnormalities?
6
Wonderful to read such a heartening article. Glad the young chap is back in form.
What stood out for me and seems to be the chorus in many of these medical stories is that family and friends, non medical folk, seem to be able to zero in on better pathways towards diagnosis and care, than primary care doctors. This clearly points the way to have a better, automated front doctor, a Google doctor who can compare, analyze data from tests and refer the patient to the relevant specialists, who will need to be actual people. A primary care physician seems in most cases, to actually be a hindrance, delaying crucial therapies where time may be of essence.
12
The primary care doctor as a hindrance? Sometimes, to be sure. But please don’t paint us all with the same brush. Recently retired from primary care pediatrics, for forty years I researched symptoms, enlisted (sometimes pestered) sub-specialists, made follow-up phone calls, wrote emails, hectored insurance companies, all in service of the children entrusted to my care. I facilitated the early diagnosis of rare diseases by doing the work, valuing expertise and knowing where to find it. Many of my sisters and brothers in primary care are cut from the same cloth, viewing the work as a sacred trust, determined not to be a hindrance.
92
@Meena
I guess you missed the part where N.I.H. pathologist went the extra mile and worked to find a diagnosis.
12
Best wishes to all connected to the story for the perseverance to help the young man and his family.
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I recently had a similar scare with my 13 year old daughter. She was complaining of severe pain in her chest and back and we had her checked with some initial xrays and MRIs. The results came back that she had a bone lesion on one of her vertebrae. The radiologist wrote in his report that he suspected it was Langerhans Cell Hystiocytosis a very rare cancer. We took her to Boston Childrens Hosptial and the Dana Faber Cancer Institute for further tests and biopsy. After further scans they found additional lesions on her sternum. But two biopsies later and after many tests the doctors said it was definitely not a cancer but rather a rare autoimmune inflammatory bone infection disease called CRMO (chronic recurrent multifocal osetomyelitis). The doctor prescribed a treatment of a medication called Embrel, a once a week injection. They said that this treatment should resolve the issue very quickly. Her pain has gone away. But it has been a very scary last 2 months for all of us.
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Rene, good for you for pursuing the expertise needed to arrive at the diagnosis and treatment that your daughter needed. I agree that her illness was similar to this presentation. CRMO was the diagnosis that I suspected here after reading the first four paragraphs.
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@Rene Gonzalez - i truly cannot imagine.
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I am happy to hear that this young man is healthy and they were able to find out what was wrong with him and treat him. God bless him and his family.
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Timely diagnosis of unusual conditions can mean the difference between life and death. For my partner, the long period of suffering she endured as she was sent from specialist to specialist did not end so well. If diagnosis had been prompt, she would be alive today.
Unfortunately our non-system of individual health providers too often leaves people who are in pain searching alone for a solution. Each step involves another dispiriting and sometimes agonizing waiting period. First the referral , then a wait in line for another appointment, then the intake process and the specialized tests and then a review. And then on to the next – if the insurance company approves.
Health care as a series of individual businesses does not work. We desperately need a patient-centered system where health care providers actually work together around a common goal - the patient's well-being.
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@Mason Dixon
As a specialist I am expected to make the diagnosis. At times, I can’t. But that doesn’t deny the patient concerns. My office is not a business and I serve the most important person in he room: my patient.
But we do have a patient centered health care system. It’s called the primary care physician. The PCP directs appropriate referrals and tests. So find the right PCP. Use the system wisely.
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@SW The best PCP in the world will be no help at all if one's for-profit health insurance corporation denies treatment.
And good luck to the person who finally does get treated, eventually needs to switch to another for-profit insurer, but now wears the scarlet letters of "Pre-Existing Condition".
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I have lived in a universal health care system, and now practice here. My father still practices medicine in a country with universal health care (Barbados) and my training was done in Buffalo NY, where we would commonly see patients come over from Canada to get specialized care here (happens quite a lot).
One thing that universal health care does well is treat common conditions. It is in fact horrible at treating people with rare conditions. Mainly because for every specialized test required, there simply isn’t the capability to do them.
I often tell people that Buffalo NY has more MRI machines than the entire country of Canada. That is one of the benefits of our capitalistic healthcare system. People in Canada wait 6 months for routine (non-emergent/non-stroke/non-brain masses etc) MRIs. If this boy was in Canada he would likely have never gotten an MRI. He also would probably have waited much longer to see specialists after he had negative tests. In those countries, it is also much more difficult to get someone in to see a world leader without a positive test. In the US, MDACC and MSKCC etc. list the emails of all of their specialists (the best in the world) and you can email them and get in to see them within days.
There are lots of reasons to want/encourage universal healthcare, but if you think it is the solution to rare disorders, I think your expectations need some tempering.
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Another case where an unusual problem was identified after considerable effort simply because it was unusual. Use of AI operating on very large databases has a good chance of delivering where cost and the limited experiences of individual specialists fail. I’d guess that few patients could have followed the extensive chain of services described. This time, luck and (non-medical) perseverance paid off, but that’s a poor model for delivering medical care. Watson, are you listening?
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@Marat1784 AI can only find what it is set up to look for. Rare diseases are highly unlikely to be found via AI for the same reasons they are highly unlikely to be found by any physician: they are improbable.
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@Marat1784 from what I read, they tried to get Watson to do this very thing and failed. AI couldn't compete with a doctor's ability to diagnose.
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These medical articles are fascinating, but there is always a particular omission: who is paying for all these tests? The patient, an insurer, the government? ( Of course I suppose the government is paying for the NIH role) . Considering that funding health-care is a big issue, I'd like to know how it works in cases like this where multiple doctor visits and tests are involved searching for a cure.
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@Charlesbalpha
If you are old enough, or handicapped to be on Medicare, and live in a Medicaid expanded state, then you do not have the burden. Otherwise, you are screwed.
That applies, of course, to ''common'' illnesses too frequently addressed in TV commercials as panaceas and cure-alls, with a litany of side effects that can kill a horse.
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@Charlesbalpha Based on the article,
I’d guess the family was from a family of with a higher than average SES. What happens when a family can’t afford to keep pushing for more medical tests? Or when parents don’t have the skills to ask critical questions of medical personnel to make decisions that may differ from a doctor’s suggestion, as in this case?
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@Charlesbalpha
Insurance is a big pool of people, and the bet of the insurance companies is that there will be many healthy people and only a few sick people.
Like me, who probably has been the beneficiary of 100x what my family pays in health insurance. For every person like me, there has to be 99 more who are healthy just to break even.
That being noted, I work full-time, I take care of my family as much as I can, I can drive (though I was banned for a while then recovered), and I am happy. I do have accommodations at work and for parking.
Thank you all for paying for my care.
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This young man's survival took perseverence, knowledge, dedication, and a bit of luck. Congratulations to all involved. I hope he leads a long and happy life.
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Great diagnostic work by the NIH team.
But you can see that the treatment is severely limited by the off-target toxicities. Hair loss during chemo is the most visible example - it has nothing to do with the disease but with the treatment. Other toxicities can be much worse.
NIH should get a lot more funding to develop targeted therapies.
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@Sri
Most of the government funded research isn't done by the NIH, but by researchers from universities applying for and receiving grants. I don't work in cancer research myself, but often the NIH puts out calls for grants related to particular issues. Targeted cancer therapies may very well be one of those.
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@Sri I think that work is already underway, but of course more research is needed. When I had chemo a few years ago, the treatment included two anti-cancer drugs plus Leucovorin (folinic acid), which increases the efficiency of the drugs. Looking back over the history of chemo for my particular type of cancer, I learned that the addition of Leucovorin had allowed doctors to get results with lower dosages and, therefore, fewer side effects.
Everyone has their own reaction to chemo, but certainly my side effects were much milder than those described in research on the same treatment without folinic acid.
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@Sri
Of all the potential 'toxicities' associated with chemotherapy, the loss of one's hair … much as a full-head of it is treasured in our society … is one I'd 'pick' with 'pleasure' if in need of chemo and given the choice.
(And I'm sure I'd 'say' the same … even if my now lymphoma free, 72YO wife weren't even younger looking and prettier still with her shaved head.
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Perhaps the bone marrow should have been repeated with flow cytometry after clumps of lymphocytes were noted on the initial biopsy. This might have shortened the work-up.
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@rjb
Flow cytometry doesn't always catch the large-cell lymphomas, unfortunately.
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What was the diagnosis?
And how was the diagnosis made?
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@Moire Cohan
The diagnosis was Diffuse Large B cell lymphoma of the bone.
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love the column as usual! There are lots of subtypes of lymphomas and lots of stains that we can do. Would it be possible to add in the subtype and/or stains done for learning value for the clinical/pathology trainees? Wouldn't want to miss it.
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@LRaki
For that you gotta read the New England Journal of Medicine.
https://www.nejm.org/doi/full/10.1056/NEJMoa1801445
https://www.nejm.org/doi/full/10.1056/NEJMcpc1314241
Be ready with a journal club report on Monday.
7
Not knowing is always the worst. Congrats on never giving up!
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Let's all remember this story next time we hear that "government" is ineffective, bloated, wasteful, dysfunctional, or a drain on public resources. I love that my tax dollars are supporting this and other work at the NIH.
And thank you to scientists acting in public service roles!
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@Cookin
I am sure some private corporate medical entity would have taken up this cause for gratis.
1
@pat Not sure if this comment is meant to be sarcastic or not . . . if not, then it should be!
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@Cookin Trump's budget proposal would cut billions of dollars from the NIH budget. He obviously doesn't care if it means more people will die.
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This patient did have a 'zebra' diagnosis." Disappointing that all the other MDs/health care systems that saw him did not refer patient to this NIH program sooner.
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The NIH Undiagnosed Diseases Network takes a very small proportion of patients referred. My wife suffers from an undiagnosed disease that came on over a 2-3 week period in September 2013. The UDN declined our application to see them. The Mayo Clinic declined to see her until I used my medical connections to get her in. We spent 11 days at the Mayo Clinic in 2015 to receive the wrong diagnosis, traveling to UT, Southwestern in Dallas (again, getting in only via my medical connections) to learn that it was the wrong diagnosis. We are still largely wandering in the desert. It is heart-breaking to suffer without a diagnosis, but that is the state of the art. I have often said in my practice that there is nothing like expertise, which the instant case bears out, but sometimes the expertise doesn’t yet exist or you just can’t find it.
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@Robert D. Mauro, MD
I was misdiagnosed for a few weeks when I first fell ill in my 20s, interestingly about 18 months after lower back surgery. Then they misdiagnosed me again, this time for about six years, based on the apparent efficacy of a drug on one of my symptoms. A drug I had to take at 10x the normal dose to get any effects.
Then I moved and went somewhere else, and got another misdiagnosis. That lasted around 15 years, including a "conclusive" muscle biopsy that specialists at CHOP say was wrong. Now no one knows what I have - it's been over 20 years and my condition is deteriorating.
I am hoping/fearing getting the time to work on my referral package to the NIH, from CHOP if possible. And my insurance company denied additional testing because they say the test 17 years ago was right, even though doctors at CHOP say it is wrong.
I have to say it's always better to have a popular disease :(
3
The Mayo Clinic doesn't miss much. Pathologists, including at the N.I.H., are not gods and occasionally make mistakes, as we all do. In this instance time will tell. Along with everyone who reads this article I wish the boy well.
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@alan brown They did with my cousin - they reviewed pathology slides sent by her team at a university medical center and said no cancer. The university team didn't agree, and treated her aggressively for a cancer that finally revealed itself and killed her anyway. Everyone bows in reverence to the words "Mayo Clinic" but I wonder if their historical reputation now outstrips their actual excellence.
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Bravo to the friend who called the National Institute of Health and the doctors working in the for Undiagnosed Diseases Program.
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Wonderful job finding the answer and outcome.
26
This article leaves me with so many questions which I know could be the point. Are there many diagnostic tools/stains that are not accessible to hospitals or even the Mayo Clinic?
Is that known to doctors? And if so, is there not some protocol to refer patients, for which myriad specialists have been unable to reach a diagnosis, to an appropriate next step and not your blessedly resourceful friend?
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@chrispysullivan
I have had many friends who said "the doctor ran every test".
There is no such thing. Every test would literally be BILLIONS of combinations.
6
Drs. Gahl and Novacic - and the family friend who found them - well done - a beautiful save.
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Thanks for the illuminating report.
Additionally though chemotherapeutic agents can be highly toxic it is counterproductive to refer to them as 'poisons'
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@N Krishna
poison noun
poi·son | \ ˈpȯi-zᵊn
\
Definition of poison
1a : a substance that through its chemical action usually kills, injures, or impairs an organism
b(1) : something destructive or harmful
(2) : an object of aversion or abhorrence
2 : a substance that inhibits the activity of another substance or the course of a reaction or process
It is a poison that hopefully kills the cancer before it kills the patient.
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@N Krishna
Someday they will come up with cancer treatments that maybe give you a rash or something, and nobody will believe they work because people aren’t feeling tortured.
9
@N Krishna I've had three friends deal with cancer in the last two years each with a different type of cancer. Yes , I think of chemo as poison. Two of the three have died and all three suffered terribly from the chemo.
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A caring friend and a bit of luck with the doctor answering the phone. Brought me to tears. Minus these factors the outcome could have been much different.
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