Thursday, July 14, 2011

It just doesn't have a cool name

When I began to suspect Georgie has more than just an expressive language delay, I hopped onto several apraxia FB pages, including one affiliated with Apraxia-Kids. I know from personal experience that support and understanding are key to keeping me sane, helping my children and building awareness. Like prematurity, very few people in real life understand what we are going through and the lines "oh, the other children talk for him" or "so and so didn't talk until he was 112 and he is JUST FINE!" won't be uttered.

On one FB page, someone brought up a fairly new study linking a duplication in several genes to apraxia. While it is not the sole cause of apraxia, it is one cause. They need more children for this study.

I totally stepped outside of my comfort zone and called the office. They called back, requesting photos of Georgie. Apparently children with the duplication have similar facial features, much like children with Trisomy 18 or Downs only the similarities are more subtle. If they think Georgie looks like he has 7q11.23 Duplication Syndrome, they will send us a blood test kit. Our blood, and Georgie's, will be tested. If he does have the duplication, we will go to Louisville for more testing, clinics and, I assume, long term study.

(They really need a better name for this symdrome. I told my mother that they just haven't found someone to name it after!)

What good would this do? No, it wouldn't change the outcome for Georgie. He would still need therapy and it would be the same therapy even if he did not have a syndrome. However, we have many, many people in our families with speech, reading, writing and overall language disabilities. I would love some insight as to why so many loved ones have needed help. I also think he could help someone else. We are still learning about apraxia and how to treat it. Maybe finding an underlying cause, and better understanding that cause, could lead to better therapies, treatments and overall understanding of this disorder.

However, this will not change who Georgie is. Georgie is perfect. Yes, I said it. He is perfect. He is exactly who he should be. He is the way God wants him to be. Although we might get some better insight into the workings of his brain, we will also gain wisdom and understanding of the miracle that he is.

And that's all anyone can ask.

1 comment:

  1. Very interesting. Thanks for sharing. I just sent them an email myself. Let us know what they say about Georgie.