A Real-Life Nail Biter: Getting Life-Changing SMA Gene Therapy to a Newborn
The tension, the deadline, the 24/7 faxing and calling, and worrying — a baby’s life on the line: It’s like something out of a movie. And yet, the dramatic reality, trying to get gene therapy to a newborn, happened this summer at UVA Children’s.
A baby was born with a rare genetic disorder called spinal muscular atrophy (SMA). Gene therapy medicine exists that, if given quickly enough, could give this baby a chance at a normal life.
Our experts were ready to treat the baby. Our specialty pharmacy team was ready to get the medicine. But the insurance company was not ready to cover the $2+ million cost.
Spoiler alert: This story has a happy ending.
A Genetic Disruption: Spinal Muscular Atrophy
SMA is caused by a missing gene. This disorder destroys motor neurons — the nerves that make it possible to move, walk, and breathe. The disease shows up in infancy or early childhood. Then it gets worse and worse.
Watch Rebecca Scharf, MD, explain
Spinal Muscular Atrophy: Loss of Muscle Control in Children
Have a Child With Delays?
See an expert in neurodevelopmental pediatrics.
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