Ava Is A Happy Girl Despite Her Daily Challenges With CDKL5 Gene Mutation

Ava has CDKL5 gene mutation, a rare X-linked genetic disorder that may soon be independent of Rett Syndrome.

On a beautiful spring day in 2006, I caught my very first glance of RARE. I watched in horror as my precious daughter, Ava, had her first evident seizure. It was a complex partial seizure, and the convulsive period lasted at least four minutes. She was my […]