Thursday, August 8, 2013

I'm a Doctor and I Know Nothing About Aflliction


Not really, anyway.

For better or worse, a common route to success in an academic career is becoming an expert in something obscure. In academic medicine that usually means mastering the ins and outs of a disease so uncommon that almost no one ever gets it, and that most doctors wouldn't have a clue as how to recognize or treat. As an example. the part of the US where you grew up has given its name to a rare tick borne infection, Rocky Mountain Spotted Fever, that produces an incidence of 6 cases/million. For the math challenged among our readers that means that the country sees about 1800 cases annually. In the aggravating way medicine works, the disease is much more common in a band that extends east-west from North Carolina to Oklahoma than it is in the Rockies.

I'm not ashamed to admit that I wouldn't recognize it if a patient entered my office with a sign on his back that said "I have Rocky Mountain Spotted Fever" or the dermatologic equivalent thereof.

In my case the rare disease expertise involves a family of inherited muscle disorders called the muscular dystrophies, most of which affect the heart with varying degrees of severity,  Muscular dystrophies are single gene disorders. The most disabling and deadly and among them, Duchenne's muscular dystrophy, is carried on the X chromosome, and so is passed from unaffected mothers to maximally afflicted sons. Duchenne's patients endure an inxorable course of increasing muscle weakness, fractures and resultant infirmity. The ordinary physical pleasures of childhood are denied these boys; walking without assistance commonly becomes impossible by the age of five or so. Because the body's largest and most powerful muscles, the quadriceps, are affected first, Ducheene patients learn to raise themselves to a standing position by walking their arms up their torsos in a maneuver called Gower's sign.

By their teen years Duchenne's patients are usually wheelchair bound. They require an astonishing (and expensive) amount of day-to-day care. As their respiratory muscles weaken they cannot clear their  phlegm in the way you and I do without thinking every time we cough. Pneumonia,thus common, weakens them further. The most essential muscle, the heart, declines relentlessly, leading to heart failure and death late in their teens or early twenties. 

These boys are my patients. In conjunction with other doctors with related expertise, I see them once a month at a nearby rehabilitation hospital. They arrive with a caretaker, usually mom or dad, or both. Affected brothers will come for their appointments together. I listen, offer what I can from my my doctor's bag of medicines and devices, and bear witness.  

While it once would not have been so, at this point in my career it is deeply pleasurable to be their doctor. These boys surely provide more for me than I provide to them. They have after all, an incurable disease that has robbed them of much, and soon will rob them of life itself. The success of the treatment I provide is modest at best. Placed in their wheelchairs, unable even to shake my hand, they are the embodiment of dignity, and their parents are the essence of devotion. The love these parents have for their children lies beyond hope or expectation, or volition, well beyond my ability to comprehend it. Try as I might, I cannot penetrate what's it's like to live in their skin. Still, they remind me by their presence, once a month, to keep on trying.


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