Thursday, August 09, 2007

Strong Reading Recommendation

There's a remarkable piece by Richard Preston in this week's New Yorker. It's not available online, but you should be buying the magazine anyway. Preston writes about a rare disease called Lesch-Nyhan syndrome, in which victims (almost exclusively boys) try to harm themselves, primarily but not only by biting their fingers and lips.

The details are gruesome (this is not for the squeamish), but fascinating:
A child born with Lesch-Nyhan syndrome seems normal at first, but by the age of three months he has become a so-called floppy baby, and can't hold up his head or sit up. ... When the boy cuts his first teeth, he starts using them to bite himself, and he screams in terror and pain during bouts of self-mutilation. ... A few hundred boys and men alive in the United States today have been diagnosed as having Lesch-Nyhan syndrome. "I think I know most of them," Nyhan said. One boy, known as J.J., ended up living in Nyhan's research unit for a year, when he was eleven. He was a gregarious child, whose hands seemed to hate him. Over time, his fingers had got inside his mouth and nose and had broken out and removed the bones of his upper palate and parts of his sinuses, leaving a cavern in his face. He had also bitten off several fingers. J.J. died in his late teens; in the past, many Lesch-Nyhan patients died in childhood or their teens, from kidney failure. Nowadays, they may live into their thirties and forties, but they are generally frail and often die from infections like pneumonia. Occasionally, a man with the disease flings his head backward with such force that his neck is broken. Many Lesch-Nyhan patients die suddenly and often inexplicably.
Dark stuff, obviously, but also captivating if you're at all interested in genetics and behavior:
In the early nineteen-eighties, a group of researchers, led by Douglas J. Jolly and Theodore Friedmann, decoded the sequence of letters in the human gene that contains the instructions for making HPRT (a protein for recycling DNA that doesn't work in Lesch-Nyhan patients). ... there was no single mutation that caused Lesch-Nyhan. ... And in the majority of cases, the defect consisted of just one misspelling in the code. For example, an American boy known as D.G. had a single G replaced by an A -- one out of the three billion letters of code in the human genome. As a result, he was tearing himself apart.
If you don't have this week's issue, get it. Preston's piece isn't as sensationalistic as this might imply, and it includes a profile of two people living with the disease. There's also an article by Burkhard Bilger about parachuting from space, also not online and also terrific.


Anonymous JPW said...

Whew: this post arrived in the nick of time.... I was just yesterday lamenting our pile of un-read NYers from the past year and wondering if I should just chuck them -- come to terms with missing some great stuff -- and start anew by pledging to get back on track with the latest issue. Now I realize I have to get back on track AND read the backlog. Thanks, dear bro-ASWOBA. (also: glad to hear James Wood is joining the staff).

11:07 AM  

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