We have some great news to share with everyone. It is no longer speculation that John has Catel-Manzke Syndrome. Now we know it. Recently in December we gave blood to a case study in Houston on Skeletal Dysplasia. Turns out there was a publication on Catel-Manzke Syndrome that determined that a TDGS gene deformation is the cause for Catel-Manzke Syndrome. The people with the case study examined John’s blood and discovered he has this deformation in the gene.
Also it seems John may have not been tolerating the Pediasure as he should. So we are now trying a different type of Pediasure that does not have the milk protein in it. We should know within a few days if this is any better for him.
The next big appointments coming up are 2/20 Genetics, 2/26 1 yr check up, and on 3/11 Audiology, ENT, Trach Specialist, and GI in Temple.
One minor note, Thomas has setup my blog for email subscriptions if you’d like to know when an update is available.