
08/21/2025
Science never ceases to amaze!
A baby expected to be born with a deadly genetic disease was successfully treated before birth — and is now a healthy, nearly three-year-old child.
This child was diagnosed in the womb with spinal muscular atrophy (SMA) type 1, the most severe form of the disease. SMA damages motor neurons, causing muscles to weaken over time, and is one of the leading genetic causes of death in babies. Most children with severe SMA don’t live past age three because their bodies lack a gene (SMN1) needed to produce a critical protein that keeps their motor neurons alive.
In the past, doctors could only treat SMA after the baby was born — but by then, damage had often already begun. In this case, doctors knew the baby was at risk due to family history, so they got special permission from the FDA to begin treatment during pregnancy. The mother was given a daily medication called risdiplam, which helps boost the production of the missing protein, during the last six weeks of pregnancy. After birth, the child continued taking the medicine orally.
Now, nearly three years later, the child is showing no signs of SMA. While ongoing treatment may still be needed, this marks a groundbreaking step in treating genetic diseases before birth — giving hope to many families in the future.