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Monday, June 30, 2008

The Conference was awesome!

We met so many families facing many of the same challenges that we face on a day to day basis. I met some people who I am sure will be life long friends. It was so nice to go to a place where no one looks at my kids like they are strange and ask rude questions. Everyone was so nice and I could see so much of Katy in those kids. They had her unstoppable joy and spice for life and many shared gait and mannerisms with her.

We saw 2 geneticist and a GI dr at the conference who offered some great suggestions for Katy's care and will contact Katy's drs about recommendations. We did not get a definitive diagnosis though and will have to wait longer for answers. The geneticists said that she definitely has some features of CdLS, but also has some features that are inconsistent with CdLS, so they can't say for sure until we rule out some other syndromes with similar features. The other syndromes suggested are Rubenstein-Taybi, Floating Harbor, and Seckel Syndrome.

Rubenstein-Taybi is very rare and I really do not feel that Katy has this. There are many characteristics that just don't fit Katy. Floating Harbor does have some familiar characteristics, but also some that just don't fit. Seckel Syndrome is a type of primordial dwarfism and is also very rare. She does look a little like these kids, but they have thin, fine hair and she has lots of thick hair. They are also much smaller than Katy. These syndromes will be suggested to Katy's geneticist and we will test for them. If we get negative test results they suggested that CdLS should be a good diagnosis for her. We are scheduled to see Katy's geneticist in September, but after the Foundation contacts her she might want to see Katy sooner.

1 comment:

Amy said...

I'm glad you enjoyed the conference! Maybe now you'll be able to get some answers.