New FDA-approved drug is offering hope in spinal muscular atrophy

Sofia, now almost 3, was not predicted to live to age 2, let alone stand or walk. All signs were positive when Sofia Wylie was born: normal term delivery, great Apgar scores. “But at her two-month checkup with the pediatrician, she wasn’t lifting her head well, and her reflexes were weak,” says her mother Natalia. “She was like a rag doll.” The pediatrician referred the New Hampshire family to a neurologist. Sofia received genetic testing, and the news wasn’t good: she had spinal muscular atrophy (SMA), a rare paralyzing disease. Even worse, she had the most severe form, SMA Type 1, which starts in infancy. Usually babies with this form, also known as Werdnig-Hoffmann Disease, rapidly lose muscle strength. Ninety percent die by the age of 2 years from respiratory failure unless they receive aggressive and invasive respiratory support. “The neurologist said, ‘I’m very sorry, but this is a terminal disease. Enjoy the little time you have together,’” recalls Natalia. Sometimes called a baby version of ALS, SMA is the number one genetic cause of infant mortality. But just before Christmas, the Food and Drug Administration (FDA) approved a new drug called Spinraza (nusinersen) that has given Sofia another chance. Under the wire We were so nervous because we didn’t know if Sofia would get the drug or not.” Even her doctors didn’t know. After crying for several days, Natalia and her husband Jason found themselves unwilling to accept the neurologis...
Source: Thrive, Children's Hospital Boston - Category: Pediatrics Authors: Source Type: news