Carpino Celebrates Committee Passage of Newborn Screening for Duchenne Muscular Dystrophy

Posted on April 2, 2024


HB 5321 would add DMD to the list of conditions tested in newborns, starting in 2027

State Representatives Michelle Cook (D-Torrington) and Christie Carpino (R-Cromwell and Portland), members of the Public Health Committee, are applauding the passage of HB 5321 out of committee. It will now be considered by the full House and Senate in the coming weeks.

HB 5321, “An Act Requiring Newborn Screening for Duchenne Muscular Dystrophy,” would require all newborns to be tested for this disorder as part of the newborn screening process approved by the Department of Public Health (DPH). Duchenne Muscular Dystrophy (DMD) is one of the most severe and debilitating forms of this hereditary condition. It causes progressive muscle degeneration and weakness, is usually seen between ages 2 and 3, and primarily affects males. DMD is caused by a genetic mutation that prevents the body from producing a protein called dystrophin. Dystrophin acts like a shock absorber when muscles contract. Without dystrophin, muscles become more and more damaged and weakened. Children with Duchenne develop problems walking and breathing, and eventually, the heart and the muscles that help them breathe will stop working. Duchenne is an irreversible, progressive disease. While there have been many advancements in the management of Duchenne, there is currently no cure.

Currently, newborn screenings are performed 24 to 48 hours after birth in health care institutions, by licensed nurse-midwives, and midwives using blood spot specimens. This bill would add DMD to the list of conditions tested, starting July 1, 2027.

When the bill came up for a public hearing, many families spoke in favor, sharing their personal stories with DMD.

“Time is valuable in the proper diagnosis and treatment of this debilitating condition,” said Representative Cook. “The addition of this test to the newborn screening panel is a proactive tool that could have a positive impact if caught early. As one of the moms who testified said, ‘Now that we have therapies, we cannot waste 3 [years] sometimes more on a journey to diagnosis. Time lost is muscle lost.’ We have an opportunity to prevent this rare disease from owning the life – let’s protect that life early.”

“Rare diseases are a reality for our Connecticut residents,” said Representative Carpino. “After meeting a family affected by DMD and learning about their struggles and the implications of a delayed diagnosis, I am proud to promote early screening so other families can be prepared for diagnosis and confidently seek necessary treatment. As a mom, all parents want the best for their children, and this gives families additional information to make important decisions.”

According to the EveryLife Foundation for Rare Diseases and Parent Project Muscular Dystrophy, the cost of delayed diagnosis dramatically increases costs for families. It is estimated that $211,229 in total medical cost and productivity loss per family, 20 days of lost work for caregivers each year, and 17 out-of-state trips for medical care across the seven communities studied. Benefits of timely diagnosis include providing earlier access to supportive therapies and treatment, delaying disease complications and physical disabilities, and lowering costs for patients and families by reducing or eliminating costly and unnecessary services or procedures.