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.
We had some appointments over the past few days with different doctors. Here is a summary of our visits. Over the past few years, I have connected with other parents whose children have Catel-Manzke syndrome. Some of the questions were based on issues with their children. There is a soon to be 24yr old, 14yr … Read more