Thursday, December 2, 2010

Is there a Geneticist in the house?

Javy had his annual appointment today with the geneticist. I have to say that this guy was pretty awesome. He's been seeing a geneticist since he was about 3 years old. His first one was from UAB and they are supposedly highly rated. Since we've lived in Hawaii, he's been seeing geneticists from the Hawaii Community Genetics and this time they came to Kauai. The thing I liked about this guy was that he was very open, he spoke freely. He gave us hope. He's young, though, hopefully he won't become jaded and closed mouthed, like some. I felt like I could ask this guy about anything and I did.

Anyways, they're gonna do some tests for GA1 and Fragile X syndrome. Also, he's the first doctor that ever suggested that we do some tests on his major organs, just to make sure that they function normally and see if there's anymore clues about syndromes to test for. This is one of the hardest parts about Javy being undiagnosed, not knowing what kind of hidden health problems he could have. I mean, he can't tell us when things aren't feeling right in his body. He has to be really hurting to cry.

But he also confirmed the possibility that maybe Javy was having seizures from birth and it just caused brain damage that are causing his developmental delays. (This is something that I've actually asked doctors about before) and that he does have characteristics of a child with pervasive development disorders (this is what autism falls under). This could be why he lacks certain social skills and communication. He recommended a developmental pediatrician who could help us work out a plan to help him get these skills back.

The fact is that this doctor just told his opinion and we talked to him for almost an hour and a half. I'm not sure why some doctors have to act like everything that they are thinking is top secret. I guess they are just afraid of being sued. I don't care about all that, I just want to know what is wrong with my son.

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