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Connecticut rare‑disease advisers press for expanded newborn screening, warn state must fund additions
Summary
The Rare Disease Advisory Council of Connecticut urged state action to expand newborn screening to include treatable conditions such as Duchenne muscular dystrophy and metachromatic leukodystrophy, while state public‑health officials said the additions would require dedicated funding and laboratory capacity.
The Rare Disease Advisory Council of Connecticut on a recent meeting pressed state leaders to move more quickly to add treatable conditions such as Duchenne muscular dystrophy (DMD) and metachromatic leukodystrophy (MLD) to the state newborn screening panel so affected infants can be identified and routed to care earlier.
Representative P. Mara, who spoke during the council’s public comment session, said Connecticut should not wait for federal action on the Recommended Uniform Screening Panel (RUSP). “I have tried for a couple years now to get Duchenne’s muscular dystrophy added to the newborn screening here in Connecticut,” Mara said. She told the council the cost of adding DMD — about $600,000 over two years, as she described it — should be weighed against other state spending and that…
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