Saturday, June 13, 2009

Results are in

We went to Lauren's neuro appointment. She has now has a new diagnosis. Chromosomal abnormality.

She has extra genetic materian, not a duplication, on chromosomes 5 and 22. The preliminary test showed that chromosome 2 was also effected. However, the FSH test showed that it was a false positive. It's not like Down Syndrome. She has the same amount of chromosomes as everyone else, there just happens to be more stuff on two of them.

It simply reaffirms what we have always felt. She does not have Autism in the traditional sense. Her neurologist has always felt that it's not just Autism. This proves that he is right.

He firmly believes that this explains everything from day 1. It explains the severe reflux, the severe ADHD, the total lack of impulse control, the autistic characteristics, the hypotonia, and dyspraxia.

As for what we do next, my neurologist will start researching in the journals. He's looking for descriptions of kids with similar disorders and a similar genetic profile. He may not find it. I joked that Lauren may be diagnosed with Krueger disorder.

I've looked at a little bit of information. However, it appears that we are very blessed. Some abnormalities on chromosome 5 include cru di chat syndrome and Treacher Colllins syndrome.

It is also likely that many with these genetic disorder are miscarried. I always knew Lauren has been determined to beat the odds.

1 comment:

Joy said...

This sounds like one of those crazy blends of somewhat-better with not-as-good-as-we-hoped news. But it's at least a beginning of an answer, which is good. I hope your doctor can find helpful information for you!