June 25, 2019

We got back the report for Dawson from Mayo Clinic this weekend and confirmed the diagnosis as - acrocephalosyndactyly type I (ACS1), otherwise known as “Apert Syndrome”. I will include medical details for those that have wanted to know! Apert syndrome is a rare genetic form of craniosynostosis — the early closing of one or more of the soft, fibrous seams between the skull bones (sutures). This early fusion prevents the skull from growing normally and affects the shape of the head and face. In addition, a varied number of fingers and toes are fused together (syndactyly). Dawson has all 10 digits under his fusions thankfully, so should be able to correct those for the most part. Apert syndrome is caused by a change (mutation) in a gene that affects how bones form. Apert syndrome is a birth abnormality caused by a mutation of the FGFR2 gene. The FGFR2 gene produces a protein called fibroblast growth factor receptor 2. This protein plays a key role in signaling bone cell development. Almost all cases of Apert syndrome result from new mutations in the gene, and occur in people with no history of the disorder in their family. Apert syndrome affects an estimated 1 in 165,000 to 200,000 births. (NORD) We have a long road ahead of us with surgeries etc, but are pretty confident that he will live a full, healthy and happy life! We’re so thankful for the doctors, nurse practitioners, nurses and other medical personnel that have been helping us so far! They have kept us encouraged and take such good care of our little lamb! So very thankful for the family and friends that have been helping us! We couldn’t have done this without you! Thank you for all of your thoughts and prayers! ❤️ #apert