July 5, 2023 / Advocacy

Duchenne Newborn Screening milestone—first state with universal newborn screening for Duchenne!

For more than a decade, PPMD has worked towards newborn screening (NBS) for Duchenne, including initiating a pilot study in New York State and developing a nomination package for federal review as a recommended condition for newborn screening. Today we are thrilled to share that these efforts, in combination with the efforts of our partners and families, have led to a big success. Governor DeWine of Ohio signed HR 33 into law, which mandates that all babies born in Ohio receive NBS for Duchenne. More than 129,000 babies are born in Ohio every year, which means that we expect NBS in Ohio to identify at least 12 babies with Duchenne every year.

Ohio has long been a hub of clinical care and research advances in Duchenne, with three Certified Duchenne Care Centers: Nationwide Children’s Hospital in Columbus, Akron Children’s Hospital in Akron, and Cincinnati Children’s Hospital Medical Center in Cincinnati. These Duchenne specialty clinics will help ensure that every baby diagnosed with Duchenne in Ohio will receive optimal care. Care for newly diagnosed babies will include monitoring development and providing appropriate physical and speech therapy, genetic counseling and carrier screening for family members, and initiating care early, allowing families to develop relationships with their care teams and to consider all treatment options. Because newborn screening is universal, diagnosis will be equitable. Families will not have a three-year diagnostic odyssey or learn of the diagnosis at age 6, when they are no longer eligible for the approved gene therapy.

Being able to test every baby in the state for a new condition takes time, as the laboratory must have the necessary equipment and personnel and must validate the method. Consequently, we expect newborn screening for Duchenne to start in 2024.

PPMD is here to support all families with Duchenne, including families with newborns identified through newborn screening. This includes developing education materials for families with a newly diagnosed newborn, connecting families with experienced peer mentors, and helping to educate pediatricians and primary care physicians who are involved in the newborn screening process. Our PPMD For You program provides personalized support from care experts in a variety of areas, including newly diagnosed. Schedule a 1:1 appointment with our team here.

This is an amazing step forward for newborn screening for Duchenne, but it is still just the beginning. We want all babies in all states to have the same opportunities for diagnosis and care.  PPMD continues to work towards the inclusion of Duchenne on the federal Recommended Uniform Screening panel (RUSP),  to advance newborn screening for Duchenne in other states, and to develop additional Certified Duchenne Care Centers across the country.  If you are interested in supporting state or federal efforts by sharing your story or contacting your state elected officials, please reach out to Lauren Stanford at lauren@parentprojectmd.org.

Thank you to all the families and clinicians who provided testimony to the Newborn Screening Advisory Committee and to the Ohio legislature and committees throughout this process. Your efforts led to this success!

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