Bilirakis Applauds Expansion of Newborn Screening, Highlights Beacham Family’s Story
WASHINGTON, D.C. — Congressman Gus Bilirakis (R-FL), Co-Chair of the Congressional Rare Disease Caucus, today praised the U.S. Department of Health and Human Services’ decision to add Duchenne Muscular Dystrophy (DMD) and Metachromatic Leukodystrophy (MLD) to the Recommended Uniform Screening Panel (RUSP), underscoring the importance of early diagnosis for children and families across the nation. Congressman Bilirakis joined HHS Secretary Robert F. Kennedy, Jr., fellow Members of Congress, patient advocates, and families at today’s announcement, including the Beacham family and their daughter, Mattie, whose personal journey illustrates the life-changing impact of early newborn screening.
“I was proud to attend today’s compassionate announcement by Secretary Kennedy,” said Congressman Bilirakis. “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. This action will help ensure earlier diagnoses, better treatments, and more hope for families—while also advancing research and innovation for rare diseases.”
Bilirakis emphasized the significance of the Beacham family’s participation and the powerful reminder their story provides.
“I was especially honored to stand with the Beacham family and their daughter, Mattie,” Bilirakis continued. “Mattie’s story underscores exactly why this issue matters. If her rare disease had been diagnosed at birth, she could have avoided much of the pain she has endured in her short life. No family should have to wonder ‘what if,’ and no child should have to suffer unnecessarily because a diagnosis came too late.”
DMD and MLD are often not diagnosed until children are four or five years old, after irreversible damage has already occurred. Adding these conditions to the RUSP 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.
“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 RUSP serves as a federal recommendation for universal newborn screening, with states determining implementation. Congressman Bilirakis encouraged states to move swiftly to adopt the new screenings and reaffirmed his commitment to advocating for children and families affected by rare diseases.
“I will continue working in Congress to ensure states have the support they need to implement these screenings and to fight for policies that put children and families first,” Bilirakis concluded.