Tuesday, February 2, 2010

It's Taken A While....

....but we finally got the results of the genetic testing on both Rachel and Simon. No surprises. Everything was either "Negative" or "Normal". For each of them, KKI had tested Karyotype, Fragile X and Array CGH. So, now we have those answers. Or maybe we just have more questions.

I'm not sure why I'm reacting this way. It was predicted by most (if not all) that these tests would come back "normal" since Rachel and Simon don't show any signs of other conditions that can simulate the appearance of autism (like Fragile X). But, being twins, I think I was expecting to learn of a genetic link between their DNA and autism.

There are many positives to this -- far more than negatives. But it does bring up the questions of nature and nurture once again. If there is no apparent genetic pre-disposition for either of them to develop autism, what in their environment affected their development enough to put them on the spectrum (that didn't affect Daniel)? Was it the 6-MP during pregnancy? Was it Remicade for the dose and a half I received while I was nursing? Does it have something to do with Crohns that isn't covered by those other 2 questions? Was it something to do with the fact that they were 6 weeks premature? Was it something that I did? Or did it simply just happen and there's nothing that could have been done to avoid it? And, going back to the nature side, is there actually a genetic pre-disposition that they both share that the specialists just don't know to test for (but that's kind of the point of ascertaining the Karyotype and Array CGH)?

I'm not blaming myself or anyone else in my family, so when reading this, please don't think that. But, as an epidemiologist, I want to understand this. That's very hard to do when I don't think anyone does. But, the most important thing here is that now I don't have to worry about some of the other symptoms of conditions like Fragile X.

Hopefully, we will continue to see them develop and grow and maybe someday, everyone will be surprised to learn that they are autistic. That is always the goal.

1 comment:

  1. I have the same kind of curiosity that you do, with regard to my congenital defects and mental illness. All we know is that something went wrong around the 7 week mark. My mom doesn't like to talk about the surgeries I had when I was young, and basically shuts down when I ask her about her pregnancy. Sometimes the questions just won't get answered in this lifetime.