Moving

Program: TUBB4A

Bowie’s Story:

Bowie was born with a thick head of flowing hair and looked like a Cabbage Patch Kid. She was the baby her parents had dreamed of—quickly smiling and repeating sounds. After six months, she was still unable to sit up. Her parents took her to see an ophthalmologist when they noticed her eye was misaligned. She was diagnosed with nystagmus, and they were soon referred to neurologists at Cornell and Columbia.

Following a series of genetic tests, just a week after her first birthday, they received the devastating news: Bowie had a rare leukodystrophy called TUBB4A. Her father didn’t fully understand the diagnosis at first but knew it was serious when his wife broke down in tears. Even doctors at the best hospitals knew very little about the condition—often offering quiet apologies and leaving the family grief-stricken.

Determined to give Bowie the best care possible, her parents transformed their small Manhattan apartment into something that resembled a physical therapy clinic. Though Bowie is still unable to sit up independently, when her father stands her and supports her, she proudly takes steps and beams with joy.

It took time to truly celebrate the amazing child they had. While they missed some moments trying to figure life out, their home is now filled with joy. Bowie laughs often. She loves her dog, the beach and the pool, swings at the playground, watching other children play, strolls in Central Park—and, of course, ice cream. She is bright, curious, and incredibly smart. No one has a smile like Bowie. She lights up every room she enters and has brought immeasurable light into her family’s life.