The genetics doctor is going to clinically diagnose Kai with DeBarsy Syndrome. There is no blood test to confirm this. She is confident that he has this by ruling out other syndromes with similar features and that all the features that he does have, fall under the features of a child with DeBarsy Syndrome. DeBarsy Syndrome "is a rare, autosomal recessive syndrome characterized by a progeria-like appearance with distinctive facial features and cutis laxa. Ophthalmological, orthopedic and neurological abnormalities are also typically present. " (De Barsy syndrome: a review of the phenotype; Clinical Dysmorphology 2008). So this doesn't really tell us a whole lot since this is so rare and there isn't that much information on it. I'm hoping to connect with some others that have children with DeBarsy Syndrome. I have been in touch with one woman from Nevada that has a 19 year old with DeBarsy. This will hopefully give us a little more insight about this syndrome.
Today he saw the orthopedic doctor for his hips. His hips are still dislocated and the only way to correct this would be by surgery. Since this can be a complicated surgery and may not benefit him, we are waiting awhile to decide what to do. He is to go back in 6 months. The good thing is that he has no limitations right now. At this appointment he also got fitted for MicKie splints for his hands. He is to wear this during the day. He also had a swallow study done. That went well and he did not aspirate. They also tried a little bit of baby cereal and he did good with that (even though it was just a little bit). This is the latest on Kai. The next major thing so far is for him to get fitted for his craniocap (at the beginning of March).
1 comment:
That is great if you have someone to talk to who is going through the same thing. I am sure they can help you answer some of your questions.
How do you keep track of all those appointments? You must be wonder women!
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