ROCHESTER, MN—Dr. Erich Stellbrach, a general practitioner at the Mayo Clinic, could barely contain his exhilaration Monday upon discovering that patient Oliver Patterson, 54, has the extremely rare degenerative nerve disease Gertsmann-Straussler-Scheinker syndrome. "Mr. Patterson, I'm so sorry to tell you this, but you have—you're not going to believe it—spinocerebellar ataxia!"
It gets drummed into our heads in medical school that, when you hear hoofbeats, think of horses, and not zebras. And so, in my limited experience, it's hard to get "exhilarated" by the prospect of a rare disease in front of a patient. Usually the thought of zebra first occurs during the history and physical, it prompts a lab test, and any "gee whiz" moment is experienced safely away from patients in the charting room, when the lab results come back.
The disease described above is real -- prior guru Stanley Prusiner described it in this 1991 paper:
Gerstmann-Straussler-Scheinker disease (GSS) is a rare, dominantly inherited neurodegenerative disease that can sometimes be transmitted to experimental animals through intracerebral inoculation of brain homogenates from patients.
If I saw a patient with a prion disease, well, um, my friend knows me pretty well.
But, as a counterpoint, there's a powerful story in this week's New York Times Magazine about a physician-scientist who finds a patient with progeria. This extremely rare genetic defect gives the appearance of rapid aging, and is usually fatal by the time the wizened child reaches the teens. It's a fascinating disease that could potentially tell us how we all age. The patient is, sadly, the doctor's son -- and she's changed the course of her career to try to cure him in time.