Every year, millions of newborns in the United States are screened for certain severe medical conditions before leaving the hospital. Through a few drops of blood, the tests look for disorders that can cause lifelong health problems and potentially early death if not treated. Spinal muscular atrophy (SMA) is a rare genetic disease and, if diagnosed early, can be treated to stop its progression.
Newborn screening can play a critical role in an early diagnosis and early treatment. Unfortunately, not every state has SMA on their newborn screening panel, and that is what drove one mother to champion for newborns with SMA.