13. Genetic Syndromes Can Cause Very Strange Results
Genes are meant to carry information that not only tells the body how to function but how to develop as well. They’re more than what makes a person look like their parents. They’re an essential part of how a developing body grows. One error and the entire process can be thrown into whack. This can lead to any number of genetic syndromes that there are no cures for. It comes down to manageability and making the person as comfortable as possible. urunu12345 explains one such syndrome that can be quite difficult for a person and their family to deal with.
“[A] 4-5-year-old patient with Lesch Nyhan Syndrome on my peds rotation in med school. It’s an X-linked recessive disease that a quick Google search tells me affects about 1 in every 400,000 individuals. It’s due to a mutation in an enzyme involved with DNA recycling. The thing all med students remember about it is for whatever reason. These patients have a tendency to self-mutilate. My specific patient had to have a procedure to have all his teeth removed because he would terribly bite his arms unless he was physically restrained. I believe he had an older brother that went through the same ordeal.”