WASHINGTON, D.C. – Congressman Gus Bilirakis (R-FL) praised the U.S. Department of Health and Human Services’ decision to add Duchenne Muscular Dystrophy and Metachromatic Leukodystrophy to the Recommended Uniform Screening Panel.
Bilirakis joined HHS Secretary Robert F. Kennedy Jr., members of Congress, patient advocates and families at the Dec. 16 announcement.
“As co-chair of the Congressional Rare Disease Caucus, I have worked for years to expand newborn screening so that no child suffers because of a lack of diagnosis,” Bilirakis said. “This action will help ensure earlier diagnoses, better treatments and more hope for families – while also advancing research and innovation for rare diseases.”
Duchenne Muscular Dystrophy and Metachromatic Leukodystrophy are often not diagnosed until children are 4 or 5 years old, after irreversible damage has occurred. Adding these conditions to the Recommended Uniform Screening Panel will give families critical answers at birth, allowing children to access FDA-approved therapies at the most effective stage and potentially change the course of their lives.
Bilirakis emphasized the significance of the Beacham family’s participation in the announcement. Their daughter’s personal journey shows the life-changing impact of early newborn screening.
“This decision represents a monumental step forward rooted in compassion and science,” Bilirakis said. “I want to ensure children like Mattie have the best possible start in life. Early screening can mean the difference between years of uncertainty and pain, and a future filled with timely care, informed decisions and hope.”
The Recommended Uniform Screening Panel serves as a federal recommendation for universal newborn screening, with states determining implementation. Bilirakis encouraged states to move swiftly to adopt the new screenings.
