The U.S. Department of Health and Human Services (HHS) has announced that Duchenne Muscular Dystrophy (DMD) and Metachromatic Leukodystrophy (MLD) will be added to the Recommended Uniform Screening Panel (RUSP) for newborns. This decision, made by HHS Secretary Robert F. Kennedy, Jr., follows a scientific review process and public comment period.
According to Secretary Kennedy, “As my uncle has said, ‘although children may be the victims of fate, they will not be the victims of our neglect.’ This action honors that principle. Early screening gives every child a fair chance at timely, effective care, and it delivers families the answers and treatment options they deserve—right when they need them most.”
Children with DMD or MLD are often diagnosed between four and five years old, after significant muscle loss or functional decline has already occurred. The addition of these conditions to the RUSP is expected to help children retain their abilities longer and reduce delays in diagnosis that can lead to emotional and financial strain for families.
The RUSP is a list recommended by the HHS secretary for universal newborn screening. While states make their own decisions about adopting each screening, these choices can impact health outcomes for many families across the country. The Health Resources and Services Administration (HRSA), part of HHS, manages the RUSP program.
HRSA Administrator Tom Engels stated, “Early data changes the entire trajectory for affected children and their families. A confirmed result in infancy replaces years of guesswork and helps families make informed decisions about treatment and support.”
Several members of Congress joined patient advocates in supporting this change. Senator Katie Britt (R-AL) said, “By adding DMD and MLD to the Recommended Uniform Screening Panel, this Administration is taking important steps to give parents and families the most information as early as possible to make potentially lifesaving decisions for their children. I’m thrilled to celebrate this announcement that will give families hope as we continue to fight for our nation’s most vulnerable.”
Senator Roger Wicker (R-MS) reflected on his long involvement with muscular dystrophy issues: “Nearly 25 years ago, a Mississippian visited my office and told me his son had been diagnosed with DMD. That conversation kicked off decades of work. It has been among my greatest joys in Congress to help combat DMD and other muscular dystrophies. We have seen a direct relationship between increased research funding and longer lifespans for children diagnosed with these terrible diseases. We have also learned that earlier testing transforms lives. Including DMD in universal screening for newborns will be transformational. I will continue to bring awareness to DMD. I encourage every state to implement this life-changing screening.”
Senator Ron Johnson (R-WI) commented on efforts related to experimental treatments: “I championed Right to Try to give those with terminal or rare diseases hope and the freedom to try experimental drugs and therapies. I am grateful to Secretary Kennedy and to all those advocating for early screening of rare diseases to give families the chance to act when treatment can be most effective.”
Congressman Gus Bilirakis (R-FL), Co-Chair of the Congressional Rare Disease Caucus, emphasized expanding newborn screenings: “Today’s announcement represents a monumental breakthrough grounded in human compassion. As Co-Chair of the Congressional Rare Disease Caucus, I have long worked to ensure that no child suffers due to a lack of diagnosis, and expanding newborn screening is a critical part of that effort,” he said. “Including conditions like MLD and DMD in the newborn screening process is a major step forward. By identifying rare diseases early, we can dramatically improve a child’s chances for timely treatment, effective therapies, and, in some cases, cures.”
HHS plans ongoing support for states as they begin implementing these new screenings while continuing evaluation on how early detection affects outcomes for children with rare diseases.
