It’s an Official Diagnosis!

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.

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