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 early detection improves treatment options and quality of life.

Why it matters: Newborn screening identifies infants with serious conditions before symptoms appear. State additions can permit early interventions that reduce morbidity and allow families to enroll in specialized care and clinical trials. But state screening expansions require laboratory capacity, follow‑up systems and stable funding.

Adrienne Manning, division director for the Connecticut Department of Public Health’s newborn screening program, told the council the program is well‑regarded but constrained by its funding model: the program charges a fee that is deposited into the state general fund rather than returned to newborn‑screening operations. “Adding disorders to the panel requires money to increase what we do,” Manning said. She said DMD and MLD each have evidence reviewed earlier at the federal level and that the state could add them but would need funding and time to scale lab processes and follow‑up care.

Multiple council members, including Michelle Spencer Manzan, a clinical geneticist at Yale, and Emily Jermaine Lee, a pediatric endocrinologist, emphasized the need for a formal, state advisory committee to vet candidate disorders and plan logistics, laboratory validation and post‑diagnosis care pathways. Spencer Manzan said Connecticut needs both technical review capacity and “the support to grow” the program so added tests are paired with resources to manage identified infants.

Council chair Leslie Bennett said the RDAC intends to prioritize newborn screening in its upcoming advocacy agenda and to work with the legislature on funding and operational questions. Members discussed the uncertain status of the federal advisory process for adding conditions to the RUSP and noted that if Secretary of Health and Human Services acts to add a condition, states still face practical steps — and costs — to implement it.

The council did not adopt formal regulations or a legislative bill at the meeting. Members asked staff to compile precise cost estimates and to coordinate with the Department of Public Health and patient groups before drafting any statutory language for the 2026 session.

Provenance: Topic discussion begins at 07:39 (Representative Mara public comment) and continues through multiple program‑level remarks by Adrienne Manning and RDAC members (see transcript timecode blocks 459.51–1202.79).