Early detection is the key to a better life for rare disease patients

Child with simultaneous Pompe and SMA saved in India

In a recent case in India, a child was diagnosed with two simultaneous rare disorders: Pompe disease and spinal muscular atrophy (SMA). The child was saved thanks to newborn screening, with a diagnosis made by the age of 44 days and effective treatments started early. “We should screen for Pompe disease and spinal muscular atrophy, because these diseases are now treatable,” says Dr. Priyanshu Mathur. “If we can identify these cases early, we can treat them early, and they can have a better quality of life.” See his presentation to learn more about the rare case.

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