Oxford University Press's
Academic Insights for the Thinking World

On Lesch-Nyhan Disease

One of the things I love about my new home is the commute. Now that I live as far east as possible in Manhattan I need to take the bus to get to work. Why am I happy about the longer commute? Because it affords me the time to catch up on all the New Yorkers I haven’t had the chance to finish. Yesterday, on my way home I read “An Error in Code” by Richard Preston and I can’t seem to get the article out of my head.

A quick summary in case you missed it: “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…His diapers may have orange sand in them. 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…The boy ends up in wheelchair, because he can’t learn to walk…One way to tell if a Lesch-Nyhan patient doesn’t like you is if he’s being nice…He eats foods he can’t stand; he vomits on himself; he says yes when he means no. This is self-sabotage.”

One graphic example tells of a boy named J.J. whose “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.” This is serious “self-sabotage,” and it raises serious questions about free will. We all have little habits that we know are bad for us but sometimes we indulge, other times we do not. Ever eat that entire bag of candy corn even though you were nauseous after one handful?  Lesch-Nyhan patients do not have the choice to stop and Preston questions whether learning about this rare disease may answers more basic questions about human volition?  Why do we knowingly make bad decisions?

It may also help researchers understand a much more common disease, Parkinson’s. “…Lesch-Nyhan syndrome looks like Parkinson’s disease reversed. People with Parkinson’s disease have trouble starting physical actions, and are said to be hypokinetic. Lesch-Nyhan people start actions too easily, and can’t stop an action once it starts; they are said to be hyperkinetic. Because Parkinson’s is also associated with a deficiency of dopamine in the basal ganglia, scientists have looked to each disease for clues to the other.”

What really stuck with me about the article was how charming the Lesch-Nyhan boys were.  They are described throughout the article as “gregarious”, “real down-and-gritty guys”, and people who “make friends easily.”  Yet, how devastating is this description?  “Their intelligence can’t be measured easily. ‘How do you measure someone’s intelligence if, when you put a book down in front of him, he has an irresistible urge to tear out the pages?'”   Imagine being unable to express loving sentiments to the very people who keep you from tearing yourself apart?

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