Diagnoses: Common and Uncommon

There was an interesting article in the Washington Post this week, about a man with a truly bizarre disorder. Among many other terrible symptoms, he essentially never has to go to the bathroom while he’s standing up and going about his day and appears to be dehydrated no matter how much he drinks, but the minute he lays down at night he has to urinate copiously and shows signs of being overhydrated. He has so many bizarre symptoms that he ended up in something called the Undiagnosed Disease Program, a fascinating group run by the NIH that seeks to find diagnoses for people who have baffled other physicians. They conduct all sorts of testing and try to either find people a diagnosis or to add their information to a database in the hopes that eventually they’ll get some information that will help them figure this out. The overall goal is to both help people and add to our collective knowledge about the human body.

Outlier medical cases are truly fascinating to many people, myself included. The WaPo column is actually part of a series called “medical mysteries“. Oliver Sacks made a whole writing career out of writing books about them. These cases make it in to our textbooks in school, and they are the stories that stick in our minds. These aren’t even one in a million cases, they are often one in 10 or 100 million. The guy in the WaPo story might even be 1 in a billion or 10 billion.

I am also fascinated by these stories in part because last year I started in on a medical mystery of my own. It started innocuously enough: random bouts of nausea, random bouts of extreme fatigue, then noticeable increased sensitivity to smells, tastes and pain. I assumed I was pregnant. I wasn’t.

I followed up with my doctor who confirmed that my hormone and other blood levels were fine. She ran tests to see if I was being poisoned, if I had a weird vitamin deficiency or had ODed on something accidentally.  She referred me to a couple of other doctors. The bouts came and went, but they actually started to get very disconcerting. My increased sense of smell meant that my car would frequently smell strongly of gas…something most of us take to mean there’s a problem. I couldn’t wear certain clothes because it felt like the seems or zippers were cutting my skin, but my skin showed no signs of redness. I couldn’t drink my coffee some mornings because I was convinced it was scalding my mouth. When I ate food I was convinced I could still taste the wrapper. Sensory information is supposed to help us make our way through the world, and to have it suddenly shifting around on you is incredibly disorienting.

Over the course of 6 months I saw 7 different doctors, all of whom were baffled. Since I work at a hospital I informally talked to half a dozen other NPs/PAs/MDs, and none of them had any idea either. The nausea and fatigue could come with hundreds of disorders, but nervous system hypersensitivity is a much less common symptom.

In the course of all this, the Assistant Village Idiot made a comment about how I should remember that strange symptoms were more likely to be an uncommon presentation of a common thing than an uncommon thing. The most experienced doctors I saw also mentioned the limitations of diagnosis. We build diagnoses based on the most common presentations of things, but we often don’t know if there are other possible presentations. We give names to clusters of symptoms because we see them together often, but it’s possible the biological underpinnings of the disorder could end up different places we don’t see as often. One doctor mentioned that in 6 months or a year I might add more symptoms that made things much clearer.

After about 6 months I still had no answers, but got some relief when I discovered that a magnesium supplement I’d taken to help me sleep seemed to help my symptoms. My doctor told me I could increase the dose and take it daily, and over the course of 6 weeks it mostly worked. I had relief, even if I still had no answers.

That was in January, and for the last 8 months I’ve seen small flares of symptoms that magnesium seemed to help. Then, about a month ago a new symptom started that made the whole thing much clearer: I got a headache. A one sided, splitting “gotta go lay down in a dark room” headache. A week or two later I got another one, then I got another one. I had always gotten a handful of migraines a year, but with the sudden change in frequency I started to notice something. For two days before I would be extra sensitive to light, pain, and smell. Sound too. Then during the migraine I would be incredibly nauseous, then the day after I would be so fatigued I could barely get out of bed. I looked back at my journals of my mystery symptoms I’d started keeping last year and realized it fit the same pattern. The symptoms that seemed so mysterious were actually part of the very classic migraine prodome/aura/postdrome pattern. It was then that I learned about the existence of acephalgic or “silent” migraines…..migraines that occur with all of the symptoms except the classic headache. My doctor confirmed my suspicions. I had been having chronic migraines with the headache, that now had developed in to chronic migraines with the headache. Once the headache appeared, my case was textbook. I got prescriptions for Imitrex and Fioricet along with a prophylactic medication.

Now per the Wiki page (and everything else I’ve read), acephalgic migraines are uncommon. It’s not particularly normal to get them as badly as I did without regular migraines, though they admit the data may be flawed. Since most people wouldn’t identify those symptoms as migraines, they might have an underreporting problem. Regardless, the AVIs point stood: this was an uncommon presentation of a common thing, not an uncommon disorder.

I like this story both because I am relieved to have a diagnosis and because it is relieving to have a diagnosis and because it is an interesting example of the entire concept of base rate. Migraines are the third most common disease in the world, after tension-type headaches and dental caries (cavities). One out of every 7 people get them. If we assume that my symptoms are highly unusual for migraine sufferers….say 1% of cases….that still means about 15 out of 10,000 people will get them. For comparison, schizophrenia is 1.5 out of 10,000.  Epilepsy is 120 out of 10,000, or about 10% the rate of migraine sufferers. A small percentage of a big number is often still a big number. An uncommon presentation of a common disorder can often be more common than uncommon disorders.

See, everything’s a stats lesson if you look hard enough. While I’m relieved to have a diagnosis, the downside of this is that the more frequent headaches are impacting my ability to sit in front of a screen as often, which may impact blogging. While we figure out what works to reduce the frequency of these, I may end up doing some more archives posting, maybe a top 100 post countdown like the AVI has been doing. We’ll see. While my doctor is great, any good resources are appreciated!

7 thoughts on “Diagnoses: Common and Uncommon

  1. I think it is very important that you have shared this–others become aware of the entity and its symptoms based on what you described–>diagnosis and then treatment. Reading about your search for a diagnosis, I thought about those individuals with such conditions as fibromyalgia, chronic fatigue syndrome, and chronic regional pain syndrome(reflex sympathetic dystrophy) and their search. Again,thanks for sharing your experience.


    • Thank you, glad you liked it! Interestingly, fibromyalgia was actually thrown out there as a possible diagnosis for me at one point, though we didn’t do much with it because I didn’t really fit the normal profile for that either. It definitely gave me a lot of sympathy for people with hard to quantify pain disorders though!


  2. If you really want to dig into weird medical diagnoses look into those people who have Graves Disease. Symptoms are all over the place and can lead to years of suffering and misdiagnoses by doctors. In a nutshell it is the main contributor to hyperthyroidism and is an autoimmune disease.


    • Interesting, I had no idea! I had always seen the pictures with the eye issues, so I didn’t realize it could be so stealth. Looks like it’s around 3% of women who end up with it? That’s definitely higher than I thought!


  3. You have touched on something I feel strongly about. I also have a rare disease, estimated to afflict between 1 and 10 people per million. The range is wide because it is hard to diagnose, and often confused with other things. No one really knows quite how many folks actually have it. There are many horror stories about folks who are misdiagnosed, or undiagnosed, for months and years. Fortunately, my family doctor was suspicious when I first went to him, and he sent me to an experienced neurologist, who figured it out pretty quickly.

    But, in the past, I have had a couple of very bad misdiagnoses. When I finally learned the real problems, I was surprised at how far off the diagnoses were. In one case, I was diagnosed as being under extreme stress, and prescribed Valium, for what turned out to be mono. I later learned that the particular doctor had a reputation for prescribing Valium for everything.

    Anyway, my real point (and I do have one) is that with today’s technology, there is no reason not to have some sort of expert system (I hate the term AI), into which they would enter all the symptoms of their patients. The system could suggest a diagnosis, or other questions to ask, or tests to perform. I bet that if your doctor had such a system, and entered: “random bouts of nausea, random bouts of extreme fatigue, then noticeable increased sensitivity to smells, tastes and pain,” something would have popped up right away about migraines.

    I suspect that the main reason we don’t have anything like this has a lot to do with doctors being unwilling to give up the mystique that goes along with the process of assessing symptoms, and making a diagnosis. It doesn’t seem quite as impressive if your diagnosis comes from a machine, rather than a person in a white coat.


    • Very glad you got a good diagnosis!

      I’ve thought about the neural network type system you mentioned too. Quite a few years ago someone put together a site where you could think of any dictator or TV character and it would guess it within 25 questions:

      It got perfected by asking users for feedback when it erred, so after a few years you could get the right character even if you got a few of the questions wrong in common ways.

      My guess about why nothing like this exists is probably partially what you said and partially liability and validation requirements. Something like that would probably have to be classified as a medical device or at least fall under the same FDA regulations. Proving it did its job would probably take more time than getting a doctor to pass the boards. It’s like self-driving cars in that way. As hard as it is knowing a person screwed up, none of us want to die because of a computer error. Hopefully we’ll see at least some sort of hybrid model soon.


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