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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.

Tuesday, June 24, 2008

Chicago Here we come!

We are going to attend the CdLS National Conference in Chicago. When I heard about the conference I was racking my brain trying to find a way to go. We are broke and haven't been able to go on vacation since having children. We really need to connect with other families facing similar challenges and Katy needs to see experts who can finally give us an answer to the question of whether or not Katy has CdLS. The CdLS Foundation has a scholarship program to pay for the tuition for first time attendees so I applied for that not even knowing how we were going to pay the rest. I prayed and prayed and God kept speaking to me in our quiet time that He would provide because He has a purpose for us at the conference. I then learned that one of the speakers is the author of a book called The Unexpected Journey: Special Paths With Special Children and is going to speak on that topic which fits right in with the ministry that God is calling us to start in our area. I prayed "wow, you really know how to confirm something! Now show me how to pay for it." About a week later I stumbled across something amazing. There is a fund to help people with developmental disabilities in Alabama attend conferences. We will be reimbursed for almost all of our cost! We will fly out tomorrow afternoon from Birmingham to O'Hare and return late Sunday night. We will be staying here. It is by far the nicest place we have ever stayed in. We will also try to make time to go to the Beach on Lake Michigan. Katy will be having a consult with the medical advisory board and we hope we will finally get a diagnosis. Please pray for safe travel and opportunities to learn about God's purpose for our ministry and our family.