January 09, 2008

Genetic Testing

Evan is now a card carrying member of an exclusive club, the TSC1 Gene Mutation club. It is VERY exclusive but not necessarily one you'd want to join.

When Evan was in the hospital last month he had a genetic test done and although we've known for a while that Evan has Tuberous Sclerosis Complex (TSC), we didn't know, until now, which gene is involved. There are two genes that have been isolated as causing TSC when a mutation occurs, TSC1 & TSC2. The main function of these genes is to suppress tumor growth, so if one of them isn't working properly, all sorts of issues can arise. The gene mutation is dominant and can be inherited or random. We think Evan's is random because for it to be inherited, Rob or I would have to have TSC, and neither of us have any symptoms. This also means Evan has a 50% chance (remember your High School Biology section on genes?) of having a child with TSC if he decides to have kids -- a long time from now.

The gene mutation happens in utero, so people are born with it and symptoms occur at different times in life, depending on what areas of the body are affected. The most common areas for tumors to form are: brain, kidney, heart, skin & eyes. Evan had three in his brain, all of which were removed and a small tumor on one kidney. As horrible as that sounds, he really got lucky that this is the extent of the involvement. Along with the tumors often comes autism and epilepsy and Evan only has the epilepsy. We are hoping Evan's epilepsy will continue to be inactive after Dr. Weiner worked his magic in the OR!

So I guess the genetic results are informative, but it really doesn't change anything in terms of his treatment. Not yet at least. It's a huge scientific step to have isolated the genes, so maybe one day something can be done to find a cure and/or keep people from getting TSC at all.

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