Today I got two very important phone calls. The first being a call from the genetist, Dr. Ward. She gave me a link to read that explains Keelie's disorder. It is a group called "Unique" that focuses on rare chromosome disorders. They offer information and support. So she told me to go to www.rarechromo.org and click on leaflets then scroll down to her chromosome number and read up on it. It is very informative and I am relieved to finally have a few answers as to what is going on with this sweet baby girl of mine. She did inform me that keelie's diagnosis is 7q11.23 duplication syndrome. A shortened version is dup7 syndrome.
The second phone call I received was from a research Dr. who I had emailed about Keelie. I had just happened to run across her information when i was researching keelie's syndrome. I thought this research was over. So I asked her if she had any information she could offer me to help with Keelie. she emailed me back almost immediately and asked for my phone number that the research was ongoing and she wanted to talk to me. I emailed her back and within 10 minutes she called me. We had an in depth conversation about Keelie and the treatments she was receiving now. She wants us to join her research and she wants us in Louisville, Kentucky January 3. But we had to rush to get everything ready. She wanted bloodwork from me, Josh and Keelie. So she needed an answer to now so she could get the blood kit in the mail. We needed to have the blood drawn Monday and shipped out Monday. Whew......life just got a little crazier. But I must say, I am pretty excited about the research. Not only for Keelie but also for others who may be affected. So I talked to the First Steps coordinator, Richard, and he got all the necessary paperwork for me to take to the research. Very helpful. Now to get the necessary paperwork from Lebonheur including MRI's, xrays, and upper gi/small bowel study. Oh, not to forget the EEG as well. So much to gather and get done. So time to get busy......ha ha.
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