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Friday, February 6, 2009

Lesson in Genetics

Since Jeremy was born Genetics fascinate me to no end, I love to research and find out all the information I can and grab hold to all literature pertaining to what Jeremy deals with. I had posted earlier in the year when we found out about our L1CAM gene. Jeremy has a variant of unknown significance on the L1CAM gene and after further testing it was shown that I have the same variant on my L1CAM gene, so he did inherit that variant from me. Does this play a part in what Jeremy deals with? The conditions that normally go along with a mutation on the L1CAM gene is X-linked hydrocephalus and X-linked agenesis of the corpus callosum, in which Jeremy has both. There are also two other conditions known as CRASH syndrome, MASA syndrome associated, however they do not include the congenital heart defects. There is a chance this is just a normal variant that I have and it doesn't play any part in Jeremy's clinical picture. The diagnoses of FG syndrome is remaining intact due to Jeremy's clinical findings. There might be someone in years to come who might decide to study the L1CAM gene in more dept, new information could emerge from that only time will tell. I also reamin to the fact that Jeremy is clinically FG syndrome, Dr. John Optiz the founder diagnosed him with it almost 4 years ago.

We had our appointment yesterday evening with the PT students from Oklahoma University. I told Jeremy, you are going to have someone come to see you, he looks around and went back to what he was doing. When they pulled up I told Jeremy your visitors are here so he jumps up and runs out the door only to see the 3 students, 1 girl and 2 boys get out of the car, so he played shy. I think he thought it was going to be Stacie or Matt, who are the only ones that come to the house other than the HTS who come to keep him when I leave. I don't know if he thought I was going to leave but he stood his ground or he thought they would make him work. It took a little while and Jeremy started to interact with them. They asked questions about Jeremy, viewed his current school IEP and of course it doesn't matter who you are or what you actually come to our house for because Jeremy assumes you are there and he has your undivided attention. The students were great and played with him, he had a blast. We will do about 4 more visits over a course of time. They will write up a plan and they will also research his condition so I'm excited to see what they come up with on FG syndrome.

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