Genetic Craniosynostosis

Noah worked with neurology since he was about 8 months old. Scans every year. He was diagnosed with macrocephaly (big head) and some enlarged fluid spaces. Our neurologist then referred us to genetics and we went through family history knowing my mom had it when she was his age (not at birth). We have a gene mutation that can cause Late on-set Craniosynostosis called ERF, during the testing we found I carried the gene (didn’t need surgery) Noah carried but was showing clear so we did every 6 months. Up until Covid hit and he went 1.5yrs without scans. Graduated neurology… because everything looked good. At age 4 I noticed he still had suture ridging, and she had us come in, she then scheduled herself our neurosurgeon visit. As soon as we met with neurosurgery the surgeon knew something was off, his MRI showed a late on set from the gene mutation. At 4.5 Noah had full reconstruction surgery called CVR.