The National Organization for Rare Disorders (NORD) applauds the Department of Health and Human Services (HHS) for adding metachromatic leukodystrophy (MLD) and Duchenne muscular dystrophy (DMD) to the Recommended Uniform Screening Panel (RUSP). MLD and DMD are both serious rare conditions that have taken the lives of too many children and young adults.
Newborn screening is a vital public health program with a long history of successful operation in the United States. Over 14,000 newborns are found to have a serious but treatable rare disorder through newborn screening each year.1 Babies affected by these conditions appear healthy at birth, and families are often unaware that anything is wrong until after a child becomes symptomatic. Screening shortly after birth will allow for early detection and intervention, a move that will save lives and give newborns affected by MLD and DMD the best shot at a healthy life. We congratulate the leukodystrophy and muscular dystrophy communities, whose tireless advocacy has driven these nominations forward through months of uncertainty.
While newborn screening programs operate at the state/territory level, the federal government plays a critical role in supporting efficiency and transparency for our nation’s newborn screening system. States ultimately determine which conditions are screened as part of their respective newborn screening programs, but inclusion on the RUSP is an important step in ensuring newborns are universally screened for a particular condition. NORD is grateful for Secretary Kennedy’s decision to add MLD and DMD to the recommended panel, a decision that marks an important step toward universal screening for these two conditions across the country.
It is critical that the important work of evaluating nominations to the RUSP, reviewing evidence, and making recommendations to the Secretary does not end with these two conditions.
We are hopeful that the Administration will continue to hear the voice of the rare community, and we remain steadfast in our commitment to work with policymakers on both sides of the aisle to determine a path forward for this lifesaving work. As new treatments and improved screening methods become available, we must ensure that all newborns born in the United States can benefit from early detection and treatment.
To build upon this momentum, NORD calls on Congress to build off this important milestone to further strengthen the nation’s newborn screening system by passing the Newborn Screening Saves Lives Reauthorization Act.
This bipartisan legislation would strengthen and modernize the nation’s newborn screening system, provide long-term stability for the RUSP, and ensure that states, clinicians, and families have clear, consistent guidance. By codifying these efforts, Congress can help ensure that progress made today translates into durable, nationwide impact, so that every newborn, regardless of where they are born, has the same opportunity for early diagnosis and timely care. Advocates are encouraged to contact their lawmakers in support of this bill using NORD’s action alert here.
Pamela Gavin
Chief Executive Officer
National Organization for Rare Disorders (NORD)
[1] Gaviglio A, McKasson S, Singh S, Ojodu J. Infants with Congenital Diseases Identified through Newborn Screening-United States, 2018-2020. Int J Neonatal Screen. 2023;9(2):23. Published 2023 Apr 13. doi:10.3390/ijns9020023
