
Our little boy Olivier has a TUBB3 mutation. His variation, de novo, is: c.1172G>T p. R39IL Olivier (13) has two older sisters, Julia (25) and Emiline (22). His sisters are his favorite people who always make him laugh. Olivier has a severe seizure disorder, diminished white brain matter, diminished brain stem, atrophy on the optical nerve, microcephaly, legally blind, CP, Autism, Raynaud's Syndrome, global delay. He used to suffer from Cyclic Vomiting. He can’t walk and he can’t talk. Olivier loves riding the school bus to school. He goes to a Middle School specializing in Creative Performing Media Art. They offer adaptive classes in dance, orchestra, band etc. Olivier and his classmates enjoy interacting with the General Ed students. We’re fortunate to live in Southern California with beaches and fun amusement parks which Olivier loves. Swimming and floating is a favorite pastime of his. Olivier has a happy and easygoing personality.
Do you have a family member diagnosed with a TUBB3 variant? You can help spread awareness and bring understanding to others by sharing your story.
We would love to feature you next!