One of the unfortunate side effects of going to medical school is that you learn about all these different diseases and eventually you stumble across one that hits just a little too close to home. For me, that disease was Angelman syndrome, also known as happy puppet syndrome. We learned it as an example of genetic imprinting, because it is caused by the loss of genes on maternally inherited chromosome 15. A loss of the same genes on the paternal copy of chromosome 15 results in a different disease, known as Prader-Willi syndrome.Here are some of the symptoms of the disease, and I'll leave it to those of you who know me to decide whether or not I actually have it:
- Poor weight gain
- Poor attention span and hyperactivity
- Hand flapping
- Jerky movements
- Affectionate nature
- Frequent, unprovoked laughter
- Below average head size, often with flattening at the back
It's a hard life, but I'm learning to manage. I appreciate your support in this difficult time.
2 comments:
I laughed a lot at this post...instead of doing my linguistics final.
Too bad French grad school doesn't teach me useful things like this.
Sam, you are such a loser.
When are you coming back for break? I am about to buy your Christmas present online, but I am hesitating because I don't know if you actually want it or not. Oh, well I'm getting it for you anyways. If you don't want it you can sell it on eBay/Craig's List to people who don't have loving mommies like yours truly.
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