Thursday, April 17, 2008

And The Winner Is...

I hate to say I told you so but...

Williams Syndrome.

Thembi and I diagnosed her MONTHS ago thanks to Google and Wikipedia. Who needs diagnosticians and genetic tests when there's the internet? We've been referred to another doctor: Dr. Kaplan who specializes in Williams Syndrome.

We are preparing ourselves to raise an overly friendly, emotionally sensitive, musically talented daughter with a bad heart and bad teeth.

http://www.williams-syndrome.org/forparents/whatiswilliams.html

1 comment:

Richard What_son said...

Hey Gonz,

Thembi filled me on the news. I just spoke with my genetic counselor and she said that the Williams Syndrome Association is probably the best support group around. You already have a link to their site, but here is their webpage for resources in the tri-state area http://www.williams-syndrome.org/community/tristate/resources.shtml

They are a member of the Genetic Alliance, a DC based advocacy group for various genetic conditions. www.geneticalliance.org

The center at CHOP is great but if you need any info about the genetics side of things, let me know.