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Monday Jan 25, 2016

In Family Medicine, Sometimes the Hoofbeats Are Zebras

How many times have you heard people say they want to work in subspecialty care because they think they might get bored if they choose a career in primary care?  

I have heard it from medical students, physician assistant students and nurse practitioners. I heard it from my classmates in medical school and from internal medicine residents during residency. I even heard it as a med student from a subspecialist who was determined to talk me out of pursuing family medicine.

Well, I’m happy to say that I haven't had a boring day yet. Even when it snows, the power is out, the phones don’t work, and I only see the few patients who brave the elements to get here, I’m not bored by family medicine. If nobody can reach my practice in rural West Virginia because of the weather, I’m still busy reading or writing appeal letters for durable medical equipment supplies or calculating weight loss plans for patients.

And I’ve always got a zebra I’m trying to figure out on the back burner. Any given family medicine office will have its share of rare disease cases -- "zebras on the commons"(www.jabfm.org) -- in the works, whether in conjunction with a specialist or on its own.

In medical school and residency, we are taught to rule out the common diagnoses before we move on to the rare disease workup. Common things are common. And that is all some people think family physicians and other primary care professionals do -- treat common diseases with common treatments. But we know that isn’t true.

During the past 18 months, I have found myself diagnosing and treating diseases that I thought only existed on board exams. Within my first month as a new physician, I was reading about connexin mutations because I have a patient with one. My family medicine colleague taught me about McArdle’s disease after one of her patients presented with muscle pain.

I don’t sit in my office treating hypertension with ACE inhibitors all day, or simply treating ear infections. Between seeing five patients with viral upper respiratory infections, I diagnose things -- really interesting things -- that change people’s lives forever.  

Patients with rare diagnoses typically have a long journey from symptom onset to diagnosis. They usually see multiple doctors. And patients often are upset about how long it takes to get to an accurate diagnosis. A recent KevinMD blog(www.kevinmd.com) reminds us that basic physical exam findings shouldn't be discounted simply because they point to a less likely diagnosis.

The best part about being a family doctor is continuity. Most of us see patients over decades and have the benefit of knowing our patients well enough to recognize subtle changes. We also know when someone is truly sick, and we often know that in the context of their family history from first-hand experience. And when we can’t figure out the diagnosis, we don’t stop, we look harder, and we look for the zebras.  

I recently diagnosed a case of Behcet’s disease in a pediatric patient. It was the perfect example of a patient bouncing between subspecialists. Each physician was doing a wonderful job of assessing their own system of expertise, but they were not looking at the bigger picture. Each time my patient saw one of these physicians, I was relentless about getting each consult note, any labs or tests that were ordered, and talking to the patient's mom to get feedback. I spent hours reading this patient’s old hospital records, scouring over new labs and reading the literature about the differential diagnosis of some of his isolated complaints.

He was on my mind all the time, and every time I saw him it added another piece to his complicated puzzle. Then one day while driving to work it just clicked. I had a question on my family medicine boards that I had gone home and researched because I wasn’t sure I had gotten it right. I read about Behcet’s, and now that one board question led me to recognize this constellation of symptoms in this patient, despite him being far outside the expected age range for typical presentation.

When I got to work, I called the mom and told her to write the word Behcet’s on a piece of paper and hand it to the pediatric gastrointestinal specialist that her son was scheduled to see later that week. I also referred him to pediatric rheumatology.  

I tell this boy often that he has made me a much smarter doctor. He continues to teach me things as he starts new treatments and has new side effects. I didn’t diagnose him because I’m smart. Rather, I was able to narrow it down because I had a long time to think about it since he is my patient for the long haul.  

I have another patient who I’ve had the benefit of caring for even longer because she followed me from residency to my new office. She is the zebra of zebras. This month we thought we had finally diagnosed her with hereditary coproporphyria because all of her labs and symptoms were consistent with the diagnosis, and the hematologist even confirmed it and ordered hematin after reviewing her workup. She has had multiple surgeries, procedures, consults, imaging studies, medication trials, but even more heartbreak. She could write a book about what it feels like to have an undiagnosed rare disease if she had the energy to do so.  

But a genetic test didn’t confirm the diagnosis. There was no mutation to the coproporphyinogen oxidase gene. We were heartbroken together.

But unlike the innumerable subspecialists she has seen who have dismissed her as not having whatever disease it is that they happen to diagnose and treat, I will keep searching. Because I don’t treat diseases, I treat patients.  

And I’m definitely not bored.  

Kimberly Becher, M.D., practices at a rural federally qualified health center in Clay County, W.Va.

Posted at 09:19AM Jan 25, 2016 by Kimberly Becher, M.D.

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