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Preemie Born with Rare Genetic Disorder Thrives after Early Intervention

KCTV-TV

Rowen Larson was born prematurely at 35 weeks gestation with a severe case of a rare genetic disorder called Spinal Muscular Atrophy (SMA), which can cause progressive muscle weakness. Rowen’s parents learned they are carriers of the faulty Survival Motor Neuron 1 (SMN1) gene with their firstborn, which meant there was a 1 in 4 chance she would inherit the condition. Jasminkumar Patel, M.D., neonatologist at Pediatrix® Neonatology of Missouri and Saint Luke’s Hospital of Kansas City, planned ahead for Rowen’s delivery as well as the testing and treatment she would receive in the neonatal intensive care unit. Because of early intervention, Rowen is thriving today at five months old. “It’s very vital that if one person is positive for the carrier, then the other person needs to be tested so we can know whether they are expecting the baby with the SMA or not,” said Dr. Patel.

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