We received a clinical diagnosis for Scott’s condition this month from his neurologist at Children’s Hospital in Pittsburgh. “Clinical” means the diagnosis is based on observable symptoms rather than finding a genetic mutation. She believes he has a motor neuron disease called BVVL (Brown-Vialetto-Van Laere), which is extremely rare.

See a more complete description of the discovery process that led to the BVVL diagnosis and more information about BVVL on the Medical Details page of this site.