Genetics

This morning I had genetics.



Today we covered neurodegenerative diseases and their genetic causes. Alzheimer's, Parkinson's, fontotemporal dementia, and some prion diseases... you know. And then we studied genetic anticipation, where the disease progresses each generation, as in Huntington's, myotonic dystrophy, and fragile x syndrome.

For the last part of our class (after 2.5 hours of lecture) a lady was invited to speak to us. She was a carrier for fragile x syndrome, and had a son and a daughter with fragile x syndrome. She was a previous medical student, and in her medical training in 1991 hadn't even heard of fragile x syndrome. When her son was born, they thought he was pretty normal, but he walked at a late age, and didn't start talking until later. Finally, after running genetic tests three times, they found that he had fragile x syndrome, the result of too many CGG repeats on the X chromosome.

The lady showed us pictures of her son, and explained the symptoms. She said that males with fragile x have large ears, long faces, and large foreheads. Her son likes to push things around, like push toys, lawn mowers, and snow shovels. He gets excited about social interactions, but gets nervous when he is actually in them. He sometimes throws a fit if he has to stand in line for a long time, or is somewhere he doesn't want to be. He needs help learning, and needs extra attention.

And then I was thinking... what kind of kid was I? What kind of (I don't think I'm completely an adult, but I'm probably not adolescent..) pre-adult am I? Do I have a genetic syndrome? Was I restless as a kid? Can I attribute my dislike of carrots to a genetic cause?

Almost in tears, the lady went on to explain how she and her son - whose name was "Anders" which is the German word for "different" - were looking for solutions, and hoping for medical advances.

It was a great feeling. I was sitting in a room with a bunch of future doctors and PhD candidates interested in medical advances. In the future, one of us might be involved with the solution to the problems caused by fragile x. And this woman knew that. It was an exhilarating feeling.

And then I came home. And although my genetics homework due on Tuesday is still as beasty as it was before class, it somehow just got a little more worthwhile.