The Family That Couldn't Sleep: A Medical Mystery

Natural History, Feb, 2007 by Laurence A. Marschall

The Family That Couldn't Sleep: A Medical Mystery by D.T. Max Random House; $25.95

Among the manifold ways we may depart this mortal coil, none are more terrifying than those that involve the slow disintegration of the central nervous system. So first, a warning: do not read this book--or even this review--unless you are absolutely immune to suggestion and hypochondria. Otherwise, journalist D.T. Max may scare you sleepless with tales of innocent people whose bizarre symptoms slowly turn horrific.

Do you perspire profusely and have trouble getting a good night's sleep? Have your pupils shrunk to the size of the dot over this "i"? Those are signs of fatal familial insomnia (FFI), a hereditary malady so rare that it afflicts only forty families worldwide. Do you stumble from time to time? Do your arms cross uncontrollably whenever you turn your head? Those difficulties may signal Gerstmann-Straussler-Scheinker disease, first recognized in a twenty-six-year-old Viennese woman in 1928, and now diagnosed in one in a hundred million people worldwide. Do you smack your lips reflexively when you are tickled under the chin? Sheep do, when they contract a degenerative brain disease called scrapie. No cases of sheep-to-human transmission are known, but after eating contaminated beef, more than 150 people have died of the bovine variant of scrapie, bovine spongiform encephalopathy, or "mad cow disease," a degenerative brain disorder called in humans "variant Creutzfeldt-Jakob disease."

What all those maladies have in common is that they are caused by prions, abnormal forms of small proteins that quite normally occur in animal and human cells. Prions do not reproduce like bacteria or viruses, but under certain conditions they can propagate uncontrollably, the way a slight crack in a windshield can turn into a web of fissures across the entire pane.

Since the outbreak of mad-cow disease in Britain in the 1980s, and the consequent destruction of millions of cattle, prion diseases have generated almost as much public fear as urban terrorism. Prions seem impervious to antibiotics; they survive boiling, ultraviolet radiation, and soaking in formaldehyde. They can remain dormant in the body for years, making it possible for prion infections to become epidemic long before symptoms are apparent. And they are invariably fatal. The only upside of prion diseases, if you can call it that, is that they are hard to catch and extremely rare.

Max is the latest of many excellent writers who have reported on prions, but his book is probably the most gripping and sympathetic. He himself suffers from a rare neuromuscular (nonprion) disease. Throughout his story of prions, he threads the saga of an Italian family plagued by FFI, perhaps the most gruesome prion disorder of them all: it leaves cognition intact while the victim, unable to eat or sleep, twitches uncontrollably until the end. Doctors have only recently identified the cause of the debility, which has carried away generations of uncles, cousins, and parents. One hopes that, before another generation has passed, science will find a cure, not just a reason, for their affliction.