I caught up w the article and found the Detective Work Fascinating. Of course in this case it sounds like more then SECOND OPINIONS were at play. When u end up successful w the diagnosis surely all is well! Obviously the medical profession is complex and can be wearying for the patient. Glad it’s a happy ending in her case!
I have all of these symptoms including the double vision. I have been to the hospital numerous times for what seemed like heart attacks. The pain in my chest is incredible and the vomiting and sore throat are persistent. Finally an ER doctor noticed that my acid reflux at night has done real damage to my esophagus. It feels like I have a golf ball in my throat the past two years. I am going to look into this as the steriod treatment I was given worked, but when it ran out, back to square one. I am in good physical shape at 56 and this has been driving me crazy. Drs keep saying it is stress from work...
11
@Suzanne Conklin best of luck to you.
3
The medical group I use allows patients full online access to medical records. The drawback of that access is that a patient can read reports on diagnostic work before they can get in to see their physicians for a follow-up appointment. When I had my first MRI many years ago, I read the report immediately, but had to wait a few weeks to see the neurologist. The report mentioned the high number of white spots in my brain, as well as evidence of an old brain bleed. The images that were append to the report were terrifying. And there in front of me was the statement that MS might be the cause of all those spots.
I had a few difficult weeks.
Ultimately, the neurologist said the spots were linked to my migraines (correlation and causation not delineated), not MS. The hole in my brain was likely an old stroke. Good news and bad.
I mention this because I have since learned that MS comes up as a possibility in many MRI scan reports. And it is, often than not, not so dire. So if anyone reading this encounters those words in their medical record, don’t panic. Migraineurs tend to have those white spots (flares) in their brain matter. We have weird brains.
7
I sympathize with this poor woman the frustration of having to endure test upon test, one misdiagnosis upon another, for what amounted to years out of her life, all to end up right back where she started. All because general practitioners, hospitalists, and the like are, it seems anymore, such poor diagnosticians.
Ask anyone who's ever had anything more complicated than a basic single-system malady just how nightmarish getting a proper diagnosis and subsequent treatment is these days. And heaven forbid the patient described in the article should have a pre-existing condition such as Crohn's Disease, as I have. The doctors, with their confirmation bias, would still be poking and prodding, scoping and medicating, in their endless quest to make 'square peg' fit in 'round hole'. If it kills 'em.
So glad she finally got some answers.
8
So I googled, "nausea, vomiting, hiccups" and NMO and a few other diseases came up...and these were from 2004. - Too many physicians suffer from Black Swan syndrome...if they're not familiar with something from their own experience it's like it doesn't exist.
It's frustrating how dismissive docs can be and actually what poor diagnosticians (in general) they are for anything outside their usual experience. Most amazing is how docs will review a patient chart for 5 mins before seeing a patient, then assume they know that patient's medical history...and then only rely on their own experience to solve the problem.
Funny...No, sad, that the doc kinda blamed this patient for hiding the double vision symptom. - Maybe by now physicians should understand that when you're huddled over the toilet violently throwing up, that the occasional double vision is not top of mind.
6
@drDont, speaking from personal experience, when one has multiple things going on with her health, it is sometimes difficult to know how much should be listed for the doctor. I have learned that it’s best to jot down notes on all the body changes I notice, and when pain or dizziness episodes happens, etc. Then I rattle all of those off to the doctor and see whether anything clicks. Middle-aged (and older) women are often assumed to be hypochondriacs, so perhaps this patient was reluctant to mention too many symptoms. Or maybe she though the vision changes were just a result of being dizzy from dehydration and vomiting.
3
@Passion for Peaches @Drdont I'm the patient in the story and I did kind of think that the double vision was just from my extreme dehydration. It didn't really occur to me to mention it - also as you guys have said - I wasn't always in that clear of a mindset given what else was going on. I also had a back of mind thinking that I didn't want to throw out any more red herrings. As we now know, the double vision ended up being the opposite of a red herring but when you have extreme "mystery illness" fatigue all bets are off!
9
@drDont It IS frustrating, but -- as the mom of an NMO patient -- I don't blame doctors for not knowing about it. There are only maybe 15,000 NMO patients in the country; doctors in fact aren't familiar with it from their own experience because they can easily go their entire career and never see a single patient. And the diagnostic criteria didn't even exist until around 2004, so people who went to med school before then would not have even had the chance to learn about it. (And people who went to med school since then probably haven't heard of it either because it's simply so rare there's no reason you'd learn about it unless you specialized in neurology - and even *then* maybe only if you were subspecialized).
We're very lucky to have world-class medical care here in Boston and even so we went through a lot of specialists before we found one who knew what she was looking at.
2
How wonderful that this doctor figured out the problem and it is treatable! Best of luck for continued health.
11
A few years ago, I suddenly became continually nauseous and lost my appetite. This continued for over 2 months, despite requests to my doctor to find the cause. His reply was always “ Great, you are losing weight”. After losing about a third of my body weight in 10 weeks, I decided to look at the internet for potential side-effects of medications I was taking.
The cause became clear when I read that a non-prescription medication I was taking for osteo-arthritis had potential side effects including Nausea (up to 34%) and Vomiting (up to 15%).
I stopped the medication, and the symptoms stopped. At last, relief.
Sometimes diagnosis can be simple and requires perseverance, in this case by the patient.
17
My son suffered for years with vomiting, heartburn, and like this woman, had endoscopies, all sorts of tests, psychological treatment, even tests for cystic fibrosis. Eventually he developed more neurological symptoms (momentary paralysis of his left side). EEG showed nothing. Finally the head of neurology saw him, did a few basic tests (eye tracking, reflexes), and ordered him an MRI. It was Chiari Malformation: a compression of the brain stem. After surgery (removing part of the skull and fusing the upper vertebrae) the brain stem was decompressed. The vomiting, nausea, heartburn and momentary paralysis are gone.
One neurologist said we were lucky; many kids don't get help until they are in a wheel chair or a ventilator.
While life is much better, there have been some longer term issues with balance and, lately double vision. He is still seeing various neurologists to make sure we are doing everything possible to help.
I understand that doctors don't want to think zebras when they hear hoof beats, but some basic tests can rule out serious causes that require immediate treatment.
17
This is a great story and a wonderful series-thank you!
But please don’t present immune suppressing drugs as a benign solution. They are a last resort and have many adverse effects, for patients and society. They can also mask the real problem, extending a diagnostic odyssey. At best they are better than a terrible disease.
With research and luck we can develop more targeted ways to actually solve specific immune overreactions, and we won’t need to carpet bomb the country to stop a few terrorists.
17
NMO is at minimum an extremely disabling disease given its penchant for attacking the spinal cord and brainstem and can even be fatal without treatment. Unlike MS which can be treated with more benign immunomodulatory treatments, NMO requires aggressive immunosuppression for effective management. There are serious potential side effects with these medications to be sure, but for this disease and many other autoimmune neurologic diseases, use of these medications can mean the difference between being bedridden or dead versus living a functional life. Once a definitive diagnosis is made, these medications are essential! Perspective of a neurologist.
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@Justin @we Tp I am the patient in the story and understand both perspectives. Justin is correct that when one understands the pathology of NMO, where damage from hiccups through blindness all the way to death can happen in a single attack (rather than over time through a degenerative process), preventing the attacks becomes paramount. As of now, this is being most successfully done by immune suppressive drugs. I am an extremely holistic person (as Drs Grant and Sykes can attest to, I never shut up about it, they were very patient) and was extremely medication averse. Prior to the initial sinus infection that appeared to trigger the whole thing, it had been 12 years since I had taken antibiotics. Dr Sykes had to patiently explain to me why a zero medication course of action was inappropriate in this case. It is true that today's immune suppressants are mostly not target specific, but with the help of foundations like the Guthy Jackson Foundation for NMO research, it is hoped that targeted therapy is not too far away. I continue to live a holistic lifestyle - while taking my meds at the same time.
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Excellent article. All of these are excellent. Thank you for publishing them.
17
Interesting much misdiagnosis goes on. At one point, all kinds of ills were due to vitamin D deficiency. Now it seems to be related to the Liver and lack of vitamin B12.
3
Is this a call for artificial intelligent diagnosis? It sounds as though if the symptoms were entered into a medical database, one of the outcomes would have been NMO.
6
To be sure, any neurologist worth their salt would have thought of this diagnosis based on the listed symptoms. However, as with many neurologic diagnoses, it is quite rare and probably something primary care doctors and gastroenterologists would have only encountered during lectures in medical school (if at all). A careful neurologic examination would likely have identified early red flags but this requires the expertise of a neurologist to identify. Not at all surprised this took so much time before a neurologist was consulted.
9
My experience as well. Well said Justin.
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@Justin agreed - when I was finally given a neurological consult the answer came. Because the symptoms were all gastro before the double vision revelation - no neuro. Perhaps some education of gastroenterologists on NMO would be helpful - seriously! Would have been a game changer for me.
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Playing the diagnosis game is the main way private medicine makes money....The stories of these drawn out investigations each increasing the bill whether personal or met by the insurance company is absolutely shocking...Of course its clear its obvious the patients have not the slightest knowledge of their bodies or of the bodies systems in fact it would be interesting to see how the teaching of biology in US High Schools is skewed to keep students ignorant
Examining that area of US education might make for an interesting article...
But the whole crookedness of money based American medicine is largely behind these kinds of tragedy
1
@truthlord , Crookedness of money based medicine? Tell us, which other professions and jobs should work for pennies? To me, if a doctor or hospital saves a life or prevents terrible illness and suffering, they should be paid very well, especially given the cost and sacrifices they make to get their training.
I have seen insurers reimburse a doctor $50 or $75 for an office visit. Yet if that patient goes to a nice hair salon, she will pay more than that. Decent tickets to a pro game such as baseball or basketball cost $100 or $150 or more, and people gladly pay it.
Our values are messed up.
2
Why can't i find doctors like this? Only yesterday my doctor's office refused to test me for Lyme Disease. Why? Because they said I asked and "we don't do tests on people just because they ask." Considering that I pay for treatment, I should be able to get any test within reason considering that doctors where I live are so bad, one has to diagnose oneself.
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That’s not how diagnoses are made. You need to see your doctor, have an exam, and appropriate labs. No doctor should order a test just because someone asked, because that is sloppy, unprofessional care, and any doctor who did as you asked is either lazy or so overburdened they are giving up. In this day of easy access to (often bad) information, too many people think they can replace decades of training and experience with a google search or conversation with a neighbor.
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@Eli Tests for Lyme disease are highly problematic; they mostly require a specific timeframe in the disease's progression to get accurate results. It's has fueled the "Lyme wars" between patients and doctors for many years.
Call your insurance provider and ask what it takes to get a second opinion. Advocate hard for one! If that doesn't work, look into getting a professional second opinion from Grand Rounds (there's a great TED Talk by Lawrence Hofmann about what they do.) You might have to pay for it out of pocket; but they have the best diagnosticians available for hire.
Also, look at autoimmune disorders like psoriatic arthritis and rheumatoid arthritis; you might be shocked at how similar the symptoms are to Lyme. And, don't assume you must have psoriasis to be diagnosed with psoriatic arthritis — you don't!
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@AKM
I live in an economically depressed area where the majority of doctors already are sloppy, unprofessional, lazy, and over-burdened. "Decades of training" - not here. And considering I have been misdaignosed with "probable metastatic cancer" and referred for a biospy with what I had already diagnoed as Dupuytrens and staph when I had shingles, I do not have a great deal of faith in doctors. Oh , and also ended up in the ER because an ENT thought he could perform a biopsy in his office without an ultrasound...
there is a wonderful show on tbs and tnt called chasing the cure. it is a great show.
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@jennifer t. schultz. Anne Curry - I don’t watch that - too dramatic; I’d rather read it 😂
1
Is this a characteristic of auto-immune diseases of the CNS, where it is initiated by a fever (or respiratory infection?) that randomly allows a breach of the blood-brain barrier by immune cells not normal to the CNS?
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@Joel H Some but not all NMO attacks are post-infectious.
This was valuable reporting. My brother has recently been diagnosed with an auto-immune disorder. He is now on Prednisone, but the Rituxan/Rituximab treatment may be necessary in the future.
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It must be a relief to get a diagnosis, and I hope the patient continues to lead a normal life. However, this article makes it sound like this is the only way NMO manifests. My father was diagnosed with this rare disease in 2014 with completely different symptoms. He first had weakness in his legs that progressed to difficulty walking. He started using a cane, then 6 months later he needed a walker. A few months later it was so hard for him to be mobile even with the walker! Prior to this illness, he was healthy and active, walking for an hour every day in the mall before it even opened. He wasn't overweight and had no chronic health issues. By mid-2015, he needed a wheelchair and couldn't do most routine things by himself anymore. Despite the name of this disease, his optic nerve wasn't affected, although if he lived longer, that may have been inevitable. He was on a medication that suppressed his immune system, which was a typical treatment for autoimmune diseases. Unfortunately, this type of medication can also make one vulnerable to other problems, such as infection. My father died, not so much from NMO, but from the toll that immobility takes on one's body, in the form of blood clots and circulation problems and bed sores, etc. It's a terribly debilitating disease, and I hope there is more research so we can learn more about it and potentially slow its progression and save lives. Thanks for writing about it, NYT.
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NMO symptoms are different depending on what part of the brain or spinal cord the lesion occurs.
4
@Christine I am the patient in the story and I am so very sorry to hear about your Dad. NMO is horrible and I treat every day as a gift. One of the parts of my health journey that we did not have space to include here is that due to dehydration and immobility, while admitted to Cedars I had a pulmonary embolism (blood clot) that I was lucky to survive. I suffer from extreme fatigue and had to have a double hip replacement as a result of a rare side effect of the steroids. It has been a journey to say that least and I take nothing for granted. I wanted to share the story in the hopes it might help someone and am so glad the NYT chose to write about it.
3
@Christine I'm so sorry about your father.
I was coming here to say the same thing, though -- a sizable minority of NMO patients present with intractable nausea, vomiting, and/or hiccups before the classic attack -- but the standard presentation is sudden & severe problems with vision and mobility. And if anyone is learning about NMO for the first time here, I also want to make sure they know about that. Medical professions & science geeks might be interested in the diagnostic criteria: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4515040/
In my daughter's case, it was several weeks of intense nausea (leading to precipitous weight loss) and fatigue, and then she literally woke up mostly blind and unable to walk without a lot of help. That classic presentation of symptoms is what got us to the right neurologist, luckily within the next 36 hours. That plus mind-blowingly high steroid doses plus luck means she's doing much better now, but I'm keenly aware that it really IS just luck that separates her case from cases where patients can't find the right doctor sooner, and I wish more patients had that luck.
My kid decided her hoofbeats aren't horses OR zebras -- they're a tap-dancing hippopotamus. Really pleased the NYT is ensuring that more doctors will know this particular hippo when it tap-dances into their office.
1
So glad she found her solution. I've been struggling with near monthly yeast infections for over 2 years after never having had one for the first 33 years of my life. I developed an allergy to the most common treatment-flucanazole after about a year of taking it. Cream treatments are now my only option and i often have to go through 2 courses per infection. Doctors thought it might be my immunosuppressant taken for psoriasis, but 8 months after stopping I now just have psoriasis again on top of the yeast infections. Having a chronic version of an ailment that's seen as no big deal has led to so many dissapointments in my care. Basically every doctor I have seen, after promising to help me find the answer, has ultimately told me to just learn to deal with it. Not knowing what's wrong with your body is absolute anguish.
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Any chance you are taking steroids along with the immunosuppressants? I’m sure you’ve looked into this, but steroids can make you insulin resistant, which can raise your blood sugar, which can result in frequent yeast infections! So... not to throw the idea of yet another medication at you, but it might make sense to look into monitoring your blood sugar to see if it’s elevated and go from there. Having had many hard to treat yeast infections in the past, I know how troublesome they can be. Good luck!
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@Lady I'm not a doctor, but you might want to ask your doctor about doing a culture and non-azole treatments. Also, if your doctor thinks a chronic yeast infection is "no big deal," keep trying until you find one who understands it is. Good luck.
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@Lady Try cutting out sugar completely from your diet. Do it for 6 months. Record your symptoms before and after and see if there is an improvement. Good luck!
Diagnosis is both an art and a science. I was diagnosed with an extremely rare (1-5 per million) autoimmune disease after landing in the hospital with a heart attack, plus what appeared to be pneumonia that did not respond to any antibiotic.
I was lucky to be properly diagnosed within 3 days because the cardiologists could find no reason for my heart attack. Arteries and heart fine, 100 lbs (was never overweight), excellent blood pressure, nowhere near diabetic, and walked 2-3 miles per day for 25 years. And no recreational drug use or alcohol issues.
Had I had the typical heart health risks they may have focused on that, and left my ‘pneumonia’ to a pulmonologist. As it was, they took everything into account. Most people are not so lucky and see specialists that treat what’s in front of them.
Because I was diagnosed so early I avoided organ damage and now live a normal life, although filled with multiple doctor appointments per year.
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I can't imagine wanting salsa and chips to be my first "meal" after suffering so much heartburn and nausea. I would think the body would be craving more nutrient-rich, gentle food? But anyway, so glad a diagnosis and proper medication were eventually found.
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@Deb H. good chance her body was craving salt, even thought her electrolytes had tested fine. Many people need extra salt.
3
@Deb H. I am inclined to think that her desire for chips and salsa perfectly captured the mind-body problem.
4
NY Times readers are so judgmental about foods. This woman suffered a terrifying ordeal - and our first thought is some judgment about choice of meal?
Also, what is a nutrition rich, gentle food? Some food that has been anointed by whiteness and little flavor? Some of us eat flavorful nutrient-rich foods.
13
With computers any doctor anywhere should be able to diagnose from symptoms, narrow down the field and run appropriate tests for confirmation.
8
@ Drsolo- the patient neglected to mention the double vision/ the factor that immediately took the specialties to work up a whole other anatomical consideration- her brain/brain stem. So, while the computerized analytical diagnostic method you suggested may be a “common practice “ these days, its a vulnerable and incomplete diagnostic tool/method when the patient forgets to provide all of one’s symptoms” - to be a “good historian” as they say in the medical world. I love these good outcome stories but I love the skilled medical doctor / internist or surgeon or radiologists or infectious disease specialists and all the other specialists in the medical care world even more. Fortunate women.
5
If it was that easy, we wouldn’t need flesh-and-blood doctors anymore, would we? Just ask Dr. Google!
No such program exists, other than in Star Trek
We need to be teaching physicians to not have tunnel vision and learn to think out of the box! The Merck Manual is not a substitute for good differential diagnosis skills.
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@MB California
It helps when patients tell the doctor their symptoms.
1
@Karen I am the patient in the story and want to clarify - during the first attack - where I had nausea, vomiting and hiccups that did not stop for approx 4 months, I never had double vision. I had no neuro symptoms, no Dr ever connected my gastro symptoms with anything neuro, and I was not diagnosed. During attack no 2, I assumed my vision was bad because I was so dehydrated and did not see fit to mention it in my distressed state. Yes, when I finally did, everything fell into place. But sometimes it is not as simple as a patient omission.
3
I am not a doctor but I had a severe generalized autoimmune reaction after a serious bout of bronchitis about ten years ago with serious swelling in my hands and feet. I was lucky that my symptoms and blood tests indicated some sort of autoimmune condition so I was put on steroids immediately. The symptoms disappeared within days even though it took about a year, multiple tests, questionable diagnoses and two doctors to figure out exactly what condition I had.
The doctors in this case should have realized early on that the patient's symptoms were related to her two sinus infections. The two incidents of nausea, vomiting and vision disturbance were not coincidental occurrences. They should have given her on prednisone immediately.
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@E miller- they were not relayed to her sinus infections. She had a very specific auto immune diagnostic condition/disease and with a newly developed specific lab test to determine MS or the immune disease and the patient’s late mention of double vision, were finally able to correctly diagnose the immune suppressing disease. Re- read the article.
7
@EMiller
If you are not a doctor, you should not be giving advice to doctors about how to practice medicine
Amazing. Conditions that we didn't even KNOW existed decades earlier now can be diagnosed and treated.
Many are so rare, however, that only a handful of doctors really know they exist, recognize the symptoms, and come to the rescue.
I'm a Zebra (unexpected/unexplained conditions) and my amazing immunologist just teased out a diagnosis from my description of new symptoms, made a tentative diagnosis, and is referring me to a Rheumatologist for follow up. Polymyalgia Rheumatica? Who knew? She did.
Alas, most people will never have the diagnosis and treatment they need because they can't afford to see doctors, or live in the boondocks where expert medical care is unavailable.
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@elained
Glad you are doing well.
My good news is that I was rapidly diagnosed with polymyalgia rheumatica and was started on appropriate treatment by a primary care MD. However, the physician did not refer me to a rheumatologist for longer term management. I self-referred to an excellent rheumatologist who is modifying my medications and am feeling much better! As you point out, alas, many people will not have this opportunity.
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@elained
My mother was diagnosed with PMR twenty years ago. It turned out that her mother and sister had also had it.
It’s good news that it is treatable.
7
Any reasonable internist or family physician should be able to diagnose and treat PMR. That is a horse, not a zebra.
A friend had similar issues, then the brain stem revealed itself. Yes there it was, and then the solution, well it was a solution until something bad occurred during the procedure to isolate the growth, a stroke followed and now......
Still alive, but with maybe 60% functions, when it could have been 100%
Sad
6
i just love these stories! they are fascinating medical mysteries with a dose of “wow!” and “ugh” and sometimes “ick” thrown in.. keep them coming. i am in awe of the hard-working, hard-thinking, dedicated people you profile.
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Just another thought.
Vagus nerve is 10 Cranial nerve. Innervates Gastrointestinal Tract and cardiac. Etc. down to our rectal area.
A cranial nerve meningioma will effect eyes and digestion and heart pumping.
I was on Nexium for 15 years daily and before that Prilosec until finally getting a stage 4 paraesophogeal repair. A hernia in my belly moved up my esophagus thru my thoracic cavity. Most of my stomach was in my chest for about two years of misery.
So imho and being in the nursing profession for 45 years ......
Using drugs to assuage symptoms prescribed by GPs without regular drug holidays may have exacerbated my brains inabilty to send messages to my gut for enzyme and peristaltic function for 20 years until my surgery.
And they also missed my tumor in my brain affecting my 6 th and 10th nerves sending out messages to my eyes and gut and heart.
At 67 I now struggle daily with a Four hour morning routine stuck in my bathroom. Every day is a surprise.
Then I am out and about and anxious as I await my next attack. I drive local with prism glasses on for my double vision and deal with essentially inoperable meningioma near my major clival area and wrapped around my 6 th nerve
Just a warning to others suffering and on drugs to mask symptoms that need addressing ASAP.
27
@nursejacki
glad that they found what was wrong. that is awful.
Very interesting. I thought her problem is purely stomach related since 90% of our problems are associated with it mainly because of our life style.
1
Autoimmune disorders are maddening! I also received a "zebra" diagnosis in my forties, now successfully treated with immunosuppressant therapy, for which I am incredibly grateful. I'm happy to know that the subject of the article is feeling healthy again. It is my greatest hope that we will soon understand what precipitates these conditions, so we can work on preventing them.
18
I am unsure how much these cases by Dr. Sanders are helpful.
On the one hand, these are interesting cases that encourage patients and physicians alike to think of alternate hypotheses and dig deeper. This can be very helpful.
On the other hand, they feed a very common narrative of "every physical complaint has an organic explanation" that Dr. House will find out about, which is simply not true. We know from studies that functional/dissociative symptoms are extremely common, estimates range from 20-50% based on the studied setting. Do these studies include a lot of misdiagnoses, does the diagnosis change after several years when the postulated actual organic illness becomes more obvious? This has been examined as well, and the answer is basically: no (or extremely rarely).
It is important for patients to have realistic expectations: many symptoms or illnesses cannot be reliably diagnosed and/or treated, and functional/dissociative disorders are a common reality ... and weird crapshoot testing brings up false positives that only cost time, money and emotional distress. The best option is to have the 2nd opinion or 3rd opinion at a renowned multidisciplinary referral clinic.
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@Roland
The response by Roland is not only well informed but extremely important. I would add to his/her remark about extensive and crapshoot testing leading to expense and distress this fact: a significant portion of disability and death in the US is directly attributable to over treatment and/or unnecessary treatment arising from chasing diagnoses and believing there is an effective treatment. Most pain syndromes/weakness/headache/brain fog/depressive symptoms (the most common ones for which treatment is sought in America) have no discernible organic cause. They arise mostly from psycho-social factors, which is why so many people find "alternative medicine" or getting stoned on alcohol, marijuana or opioids effective for purely placebo- effect reasons. The fact that so much of what presents in medicine is psycho-social makes diagnosis and treatment extremely difficult. Doctors have to assume a counter factual -- the cause is organic -- when that's actually improbable.
9
@Cephalus
"Most pain syndromes/weakness/headache/brain fog/depressive symptoms (the most common ones for which treatment is sought in America) have no discernible organic cause. They arise mostly from psycho-social factors"
This is a ludicrous comment.
1
I can attest to the fact that ignorance is bliss in medicine and diagnosis.
We must persist or something is usually missed.
11
When in doubt about a diagnosis always check the brain and spinal cord area for lesions of cranial nerves. Despite non correlating symptoms that might be well....... a million things!!!!
9
Seems the neurological symptoms were missed by
one physician after another.
Disturbing.
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@mi
My friend has a devastating form of parkinsonism. He had a diagnosis of ideopathic Parkinson's for a long time while he failed to respond to the usual medications and went into a steep decline. When I pointed out to two different doctors that he could not follow my finger from side to side with his eyes, a hallmark of some of these diseases, one doc shrugged and the other said he probably wasn't paying attention. I really don't think it's too much to ask for neurologists to take notice of these things.
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@mi
It sounds to me as though the diagnosis was made pretty quickly after the patient mentioned her double vision.
Dr. Sanders, one recurring theme in your excellent Netflix series has to do with the number of times that the doctor jumps to the conclusion that the conditions are psychosomatic. Later testing and research then demonstrate the inaccuracy and downright arrogance of this position. Is there a way to call the relevant doctors out on this to prevent it from happening again?
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I feel so sad for her. I have same issues minus hiccups.
My sister and I both.
Prayers for all....
21
what is the name of the Netflix series, please? oh I bet we don't get it...... we are deprived of all the best of Netflix here in Canada - our version is hardly worth having.
1
@Elizabeth Barry, Canada
The name is Diagnosis. Is a very good series.
14
@Elizabeth Barry, Canada If you get a VPN for your computer and install the software, which is easy, and fairly low cost, you can "put" your computer in the US and enjoy this Netflix series, and any other American Netflix show.
11
@Douglas ritter
I live in Europe. That used to work until about four years ago. I do use a VPN to view CBC (Canada), Channel 4(UK) and other networks. Netflix in our country carries Diagnosis so here’s hoping for our Canadian friends.
9
After being diagnosed and treated for a rare disease, I have nothing but respect for every doctor that attempted to diagnose my condition. Every one of them did their best and they were never dismissive when I explained my symptoms. Due to the fact that I am a Patient Advocate, I was proactive with my health issues but it took a long time for the doctors to properly diagnose me. Throughout the entire experience, every doctor I saw did their best. If I wasn't happy with a physician, I saw another one. Medicine is a difficult profession; we must be as involved as possible while understanding they can't immediately diagnose a disease. Personally, I know that I would not be alive today if they hadn't worked hard to diagnose and treat me.
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@mary barter
How were you able to afford going from one doctor to another? My insurance wouldn't pay for that....at least I'm told.
2
@mary barter I read somewhere that out of every 20 patients seen, one will have a rare disease.
I knew the minute I started reading this article that it was nmo. I was 21 in about 6 weeks after giving birth to my son in 2004 I started going blind. It took two years for doctors to diagnose me with neuromyelitis optica. I am a huge advocate for the disease and volunteer for the sumaira foundation for nmo. When I first learned about this show I was hoping that they would have nmo case on here considering how rare it is. the patient is on an autoimmune suppressant drug called rituximab. It's a pleats the B cells.
41
In law (my field), computer-assisted research has been the norm for several decades. Don't doctors use computer-assisted diagnostics as a matter of routine -- especially when faced with a puzzling case like this one? Seems to me it should be malpractice not to. Feeding @Deb's symptoms into a computer should have produced a list of possible diagnoses ranging from the gastroenterological to the neurological, and everything in between -- not just horses and zebras but all sorts of plausible creatures. Instead of "Now you tell me you're having double vision!", the question could have been asked proactively, and sooner: "Are you having double vision?" This is not to slam the doctors who cracked this case (and @Deb, we're all knocking on wood like woodpeckers here!), but simply to ask: Was there not a more efficient way to get to the right answer sooner?
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@Viseguy Please remember that these articles are written to be entertaining, so there are some liberties taken in the storytelling. This isn't a case report in a peer-reviewed medical journal.
As for computer-assisted diagnostics: Great question, there many benefits and many pitfalls to such diagnostic tools. I can recommend a great book that touches on the topic called "The Digital Doctor: Hope, Hype, and Harm at the Dawn of Medicine's Computer Age" by Robert M. Wachter.
26
@Ross Grant I was online when a computer beat the then current world champion at Chess. That was years ago. It's only a matter of time before a computer beats man at diagnosis.
8
@Viseguy
Yes, physicians use computers for research. That is not the issue with cases like this. The problem is that the list of possible diagnoses for any symptom or combination of symptoms can be exhaustingly extensive. Yes, it is important to consider a neurologic etiology for a patient who presents with vomiting and hiccups. No, it is not reasonable to get an MRI of the brain every time a patient has these symptoms. You often have to approach a diagnostic workup in a step by step fashion, investigating the most likely or common diagnoses first in order to optimally utilize limited resources. Then when you have more information, or the clinical picture changes, you can use this to determine the next step. When this patient had new symptoms of difficulty swallowing, slurred speech, and double vision, that was the key to this diagnosis.
26
This was like reading my own story I had the same exact symptoms when I went to the ER back in 2017 ended up temporarily paralyzed. Didn’t find out it was NMO until 2018. Very rare and unpredictable illness. Im 28 with 2 children and live with it everyday. I just hope that more people learn about it and a cure is found.
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As a long-time medical/health journalist (now semi-retired), I first of all commend the NY Times and Netflix for the riveting, fascinating and impactful Diagnosis series. Can’t wait for Season 2. But as a patient who recently spent several weeks in a hospital following a long-time misdiagnosed, quite rare condition —blood clots in major abdominal arteries—I personally relate to some of the angst and frustration of patients discussed in the series and in the column. Medicine has become so specialized —and so hurried—that each physician too often looks at his or her chosen area of medicine with blinkers on, which are the kind of side blinders race horses wear. In Diagnosis, the blinkers come off. The crowd enables 360 degree views, with nothing covering any angle.
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@Jen How I understand your points. I've got multiple chronic conditions, including seven or so autoimmune conditions (two in remission). Three quite rare. I have so many specialists that at one time I had three opthamologists...for just my two eyes! And two neurologists! One orthopedist only treated knee pain and would not discuss back or hip pain (but that was not disclosed on his website). It's no wonder I almost died several times when I presented with what appeared to be the oft-said horses but was instead the proverbial zebras. It seemed everyone was just looking at me through the filter of their specialty and not me as a patient whose various body parts and systems interact with their specialty.
33
Can someone explain why would it take two weeks to get lab test results?
10
@AZYankee this particular test takes that long to come back (or did in 2014) - (the test for the antibody to Aquaporin 4) - I believe at that time it had to be sent to the Mayo Clinic, where the specialized test was developed.
29
I've experienced some of these same symptoms and was diagnosed with cyclic vomiting syndrome. It was a vicious cycle.
11
This is my favorite column in the Times. There is always a good ending. It is always an upbeat story of science triumphing nature.
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@Joe Aaron That's because they only accept solved cases. (Read the fine print.)
14
@ejb
There was a period when they were writing about unsolved cases, mysteries like the teenager who was essentially disabled without a diagnosis. Then these cases disappeared.
1
I learn so much from these stories and appreciate the people who are willing to share their medical histories. I also read The Post version of this. The Times and Netflix knocked it out of the park in terms of the arc of “good patient/bad patient” and “good doctor/bad doctor” but what you realize is that everyone is very human. Very. So although my mind goes to the brain with nausea I do understand immediately that doctors start with the most common causes and then try to narrow it down. The issue is how hard it is for patients to navigate the health care system and insurance and, often, to advocate for themselves. Am really impressed she said no to a test that had been done twice and showed no abnormalities. And that for an auto immune disease she has been diagnosed correctly fairly early on.
34
I have only just stumbled upon the Netflix series two nights ago and it is fascinating. Groundbreaking, really. I sincerely hope Netflix will continue to make it and more people can be helped. These are the kinds of stories I want to see. Ones where humans are helping other humans and treating them with compassion. ❤️
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I did think autoimmune, and her age is important. I am 41 and recovering from a small blood clot on the lung. I spent years telling myself I had more of my father's side of the family health which is fairly robust, not my mothers - which is full of autoimmune diseases like MS and Lupus, thyroid issues etc. for generations. Alas a week and a half ago it surprised me. What I thought was a virus was a blood clot.
The link between the gut and the brain is well known these days and I hope that it becomes more common to assess both at once when people present with certain health issues,
25
How did you find out what it was?
7
I wonder if the twice yearly medication is a monoclonal antibody infusion?
10
@MDuPont I am the patient in the story and yes, it is a monoclonal antibody infusion - the drug is Rituxan.
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@MDuPont I am the patient in the story and you are correct. It is Rituxan also known as Rituximab.
20
@Deb So glad you are feeling better. And that you received the right diagnosis. Astrid
34
I am a software engineer. The moment I read that her tongue couldn't go to the left, the only thing I could think of was that either the brain or some connection to the brain is the problem.
34
@Neel Kumar Interesting!
3
@Neel Kumar I thought the same thing. At that point in the story I started thinking myesthenia gravis or something similar.
5
Given how difficult it is to get into Medical School
why are so many doctors so "hidebound"
about diagnosis and treatment ?
Why is it so difficult for them to look outside the
box and ponder that perhaps the patient has a
condition they have never seen before ?
As soon as I read the first paragraph I knew that
she had something wrong with her brain/brainstem.
I am sure other readers did also, why not the doctors ?
25
@John Brown Because when you hear hooves you think horses, not unicorns.
Nausea and vomiting is nearly always a digestive problem. Only when the patient belated told the doctor about the double vision did he immediately realize it was a brain ailment.
You can say hidebound, or you can say rigorous. The diagnostic protocols are based on a principle called Occam's Razor, start with simple. Your mechanic does the same thing. If your engine is ruining rough he starts by checking the sparkplus, not not by taking the engine apart.
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@Mel
No need to be an apologist for Doctors.
They are paid well enough and held in high
enough esteem to think outside the box
when it is obvious that the patient has
something extra-ordinarily wrong with them.
It was not her first visit to the doctors for this
condition and she did not seem to have
any of the secondary symptoms.
23
@John Brown. Mel is not being an apologist for doctors. The phrase "when you hear hoof beats, think horses, not zebras (or unicorns)" is intended to help medical professionals look for the obvious first because most of the time they will find it. This column addresses the zebras, and in each case, the doctors--usually specialists-- recognize the zebra when the obvious doesn't fit the pattern because they see more zebras. No apologies needed.
65
I really enjoy this particular feature in the NYT. Always interesting to see how a doctor ends up with an accurate diagnosis. Having been through the health system due to episodes of syncope which led an initial but inaccurate diagnosis of epilepsy, I can only say that finding the right doctor at the right hospital is key. Eventually, following my instincts that the syncope might have a psychological component, I found a doctor who, after extensive testing, came up with a diagnosis of non-epileptic psychogenic seizures. Treatment involves no drugs only therapy that helps me to deal with psych issues related to ptsd and severe emotional and mental conflicts. "Knock on wood". I've been seizure free and much less conflicted for some time now.
39
@ds That sounds a lot like one of the Netflix episodes.
1
It is interesting that her symptoms were triggered after she had a sinus infection. Something about her body mounting an immune response also triggered the activity in her brain stem. Why does it cause a lesion?
26
@Carolyn
There are two infections here in sequence:
1) multiple sclerosis.
2) sinus infection.
The lesion was caused by multiple sclerosis. The symptoms occurred when antibodies against the sinus infection activated the now-compromised nervous system.
1
@5barris
Please read again, carefully. The patient was not diagnosed with multiple sclerosis but with a more treatable autoimmune condition.
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@MaryF
I think a lot of NMO patients would disagree that this disease is more treatable than MS. It can and does leave people blind, paralyzed and can be fatal. There is also a variant (MOG) that does not respond to rituxan as well as AQP4 patients. NMO is a complex disease. I thank Dr Michael Levy and the NY Times for bringing awareness to this disease.
18
"Grant reviewed the specialist’s findings before going to see the patient the next day.". that's unusual. most doctors review their patient's medical files for < 1 minute before walking into the exam room to see them. i have a rare (as in almost no doctors have ever dealt with a patient with this disease) autoimmune disease, sensory dominant CIDP, with a very complex medical history and i refuse to see doctors until they've reviewed my medical records and educated themselves about my disorder (rather than asking me to educate them); otherwise it's a waste of my time, often resulting in incorrect treatment.
129
@Richard Gaylord agreed. I am the patient in the story and was very lucky to finally encounter someone like Dr Grant who exemplifies what a hospitalist should be and do. In addition to diagnostics, on our initial meeting he was inclusive, respectful and relatable and listened carefully to my story and history, quickly creating a patient/Dr trust that is often missing, but was critical in this case with the sharing of key information. I had been treated dismissively by many Drs prior to coming to Cedars (several of whom suggested my symptoms were simply the result of work related stress) and I was both exhausted and defensive so this was a welcome relief.
313
@Deb
I'm beginning to wonder if doctors are slowly going crazy by the insurance co's insisting that each doctors' appointment last 15 min. On top of that they often have to argue for the patient's treatment to be covered and the insane prices for medication.
While being treated for thyroid ca, I had been treated very badly by an ent doctor who worked in a private specialty clinic that had hospital privileges. Evidently, this arrangement is very common. I'm surmising that doctors who work in private clinics not attached to universities are not reigned in about their patient-doctor relationships.
I transferred all my care to clinics run by the University of Minnesota and have been treated very respectfully and am happy with the medical care I've received.
33
@sheila Two weeks ago, my wife(71) and I (73) had our six month, insurance (UHC)100% covered, check-up with our primary physician. It was our third such visit after moving here in 2018. My wife, with several chronic conditions, was with the doc 1.5 hours. I, in good health & physical condition, was done in 45 mins. It would have been quicker, but the doc had not received the recent PET scan report following the discovery(in a cardiac calcium scan--no calcium in 4 chambers) of a small nodule in my lung. I had explained it was there for years, and a 2009 scan had led to it's diagnosis as a scar. I was referred to a pulmonologiist, who ordered the PET scan. I played detective a bit, finding the results(no pic) of the 2009 scan(diagnosed as scar, from a bilateral massive pulmonary embolism attack;hospital related, 2005 radical prostatectomy) and the pic & results of a scan done in 2015 to check progress. The 2019 scan was actually smaller than previous ones and I was discharged by the pulmonologist, but my ppc had me wait till she spoke with him and had the results faxed to her.
6
Note to the Editor. I notice there's no link to this on the Health page. Can you do that in the future, please?
81
I suffered this kind of auto immune disease not so commun. It took 2 years to get a diagnosis. A this time I was working as a nurse in an ICU devoted to heart, thoracic and blood vessels surgery and transplantation. It started with acute tiredness articulations and muscles pains coming and going. Usual biology was normal. The internist I came to see at last was thinking about four diagnosis from polyarthritis to muscles disease. She asked me to call her as soon as I'd felt something uncommon and a day I finish my shift in ICU I felt like ants running under the skin of my left foot together with some kind of anesthesy in my left thigh and foot. I was directed to a brain MRI which found six spots inside the brain A powerful dose of steroid gave me some inprovement and one more year of inquiry gave a diagnosis of vascularitis localiised in the white substance. One more year of treatment with steroids and anti immunity medicines was necessary to"switch off " these dots. They are still there but quiet since 12 years now but I suffer from pain in the muscles of left leg like feelings of power and burning by crisis.Gabapentine keep it at bay most of the time when necessary opiods are used.
39
What a wonderful story! 'Knock on wood' as the lady said.
12
What was the drug that she is now taking twice a year?
14
@Larry it is Rituxan/Rituximab
8
I am surprised that Grant actually noted tremors of the tongue and inability to move the tongue to the left (but not to the right) and thought he should bring in the gastroenterologist again. These are clear signs of focal neurologic dysfunction. To say nothing of the missed neurological signs in the first protracted episode in New York. I hope the docs in New York were appraised of her diagnosis. There is a huge learning experience for them in this story.
139
Thank you for the feedback. Just to clarify: CNS lesions were considered in the differential diagnosis right from the beginning (along with medication effects as mentioned in the article) and the neurologic workup was initiated at the same time as the GI workup.
126
@Jayne Rivas. Actually the neurologic workup was initiated simultaneously.
26
Could the sinus infections be initiated by the heartburn? Does the lesion affect the vagus nerve?
6
wow! Fascinating case. Glad her MD was a true detective and helped the patient heal. I hope she stays healthy!
36
I share astonishment in a comment below about her doctor noticing the unusual tongue.
Who would have thought that a tongue trembles.
Thanks again, Doc - for a great education.
Two questions.
This position of a "hospitalist" - I had never heard of such a position. Is this new org chart?
And the report says that these symptoms were first reported a century back - what I find astonishing that records from that long ago are kept so well.
Especially, when some of this good Doc's stories highlight - how some records of a patient today are either misplaced or misread.
12
@Neil The symptos were reported in the medical literature (medical journal article(s), maybe a book) a century ago, not just in a patient record.
8
@Neil A 'hospitalist' is the doctor who sees patients in the hospital, in those hospitals in which the patient's own doctors do not see the patients, but rather only the hospital staff sees them. There may be generalist hospitalists and specialist hospitalists.
18
A hospitalist is an internal medicine doctor who specializes in the care of hospitalized patients and helps determine if any specialist care is needed and if so, coordinates with them (e.g. the neurologists and the gastroenterologists in this case.)
24
I firmly believe that the next 20-30 years will allow doctors and researchers to learn so much more about auto immune diseases and the findings will have impacts far and wide to improving our health.
33
@Kelly
Agreed, but also that the spectrum of possible diagnoses will expand, with overlapping systems effects, to make diagnosis ever more complicated. Unless they find test that instantly pinpoint the causes.
7
@Kelly Considering that autoimmune diseases primarily affect women, I’m afraid I don’t share your optimism. Many autoimmune diseases cause “vague” symptoms like pain and fatigue, and the diseases often strike in middle age — making it all too easy for doctors to tell women that it’s just in their head, or maybe they’re just hormonal.
62
@Mel It has been shown in the medical literature and in history of medicine that women and men are treated differently; for example, doctors were found to respond to men's and women's chest pains differently. This was especially marked in the 19th century, but can still be shown today.
TLDR: Some people see zebras and think horses.
22