The story of Savannah
I am almost a year and a half old. I received my diagnosis of CTNNB1 Syndrome when I was 10 months old. The syndrome causes me to have hypotonia in my trunk, hypertonia and dystonia in my extremities, strabismus, extreme farsightedness, a tethered spinal cord, and seizures. I have global delays in every area. However, I remain joyful and incredibly determined! The dragonfly is the symbol for my syndrome and it represents transformation, hope, and adaptability. These are the things I strive for. I want to share my story with the world because though there are only a little over 400 cases of CTNNB1 Syndrome currently diagnosed, there is an estimated 200,000+ affected individuals worldwide. In fact, it is the most frequent pathogenic variant of those diagnosed with Cerebral Palsy. More awareness of this syndrome and access to genetic testing could bring real change for our CTNNB1 community. Thank you for reading my story!