8-Year-Old Boy Walks Again After Rare Disease Treatment
An active 8-year-old boy started having trouble with balance in 2023. Within months, he had to use a wheelchair.
A Rare Genetic Disorder
He was diagnosed with HPDL deficiency, a rare condition that stops the body from making enough energy for the brain and muscles.
Standard CoQ10 supplements didn’t help because they couldn’t reach his brain.
A New Hope
Doctors at NYU Langone used an experimental drug called 4-HB, designed to reach the brain. As the boy’s condition worsened, the FDA approved it for emergency use.
Within weeks, the boy began walking again, gaining strength and moving better.
Recovery and Future Hope
Within a year, he was hiking and go-karting. It’s the first known case of 4-HB helping someone with HPDL deficiency. More studies are now planned.
The boy’s progress gives new hope to families dealing with rare genetic diseases.