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Early Screening Enables Infant to Thrive After Rare Genetic Diagnosis

Fox 4 News

Five-month-old Rowan Larson was diagnosed with spinal muscular atrophy (SMA), a rare genetic disorder that weakens muscles and affects breathing. She inherited SMA like her brother, Silas, but early detection in pregnancy allowed the care team to plan for early delivery and prompt NICU treatment. “The importance is to start the medication and get testing done within 48 hours, that’s kind of where it is important in terms of the long-term development and outcome wise,” said Jasminkumar Patel, M.D., neonatologist at Pediatrix® Neonatology of Missouri and Saint Luke’s Hospital of Kansas City. Today, Rowan is thriving. Dr. Patel noted that Rowan’s progress shows the importance of early prenatal care and screening for preemies and children with SMA. “Because the treatment is new, we don’t know what’s going to happen 20 years down the road,” he said. “So, time will tell, but so far, the outcomes that we are seeing from the research are pretty good.”

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