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Newborn Screening, Treatment Make Big Difference With Rare Muscle Disorder
Mateo Medina has never walked or talked. The 10-year-old breathes and feeds through tubes. His brother, Javier, 5, marches around their house in Fond du Lac and talks up a storm, but he can’t run or jump and his speech is garbled. He can eat soft foods.
Their sister, Amelia, 3, sprints, chats and eats like most kids her age. An occasional morning tremor is the only sign that she, too, was born with the most serious form of spinal muscular atrophy, or SMA. The genetic disorder, which progressively weakens muscles, typically has been fatal by age 2.
New treatments are changing the face of SMA, and the Medinas are Exhibit A. Mateo was born five years before approval of the first treatment, which Javier received in a clinical trial. Amelia got a newer gene therapy — considered most effective if given within a few weeks after birth, before symptoms appear — when she was 11 days old.
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