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Family Fights for Universal Screening for Son's Rare Disease
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Shane Philipps is a happy, sweet 17-month-old baby. But he is also battling a rare genetic disorder that may mean he won't learn to walk on his own. Shane was diagnosed with spinal muscular atrophy (SMA) at 10 months old, when some of his motor nerve cells had already been damaged. Now, his parents, Chris and Regina Philipps, are pushing to make a test for SMA part of universal newborn screenings because early intervention can help babies with the disease have better outcomes.

 

Shane Philipps is a happy, sweet 17-month-old baby. But he is also battling a rare genetic disorder that may mean he won't learn to walk on his own. Shane was diagnosed with spinal muscular atrophy (SMA) at 10 months old, when some of his motor nerve cells had already been damaged. Now, his parents, Chris and Regina Philipps, are pushing to make a test for SMA part of universal newborn screenings because early intervention can help babies with the disease have better outcomes.

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