PPMD, in collaboration with the Muscular Dystrophy Association (MDA), the EveryLife Foundation for Rare Diseases, and the Little Hercules Foundation (LHF), recently hosted a webinar on the background, history, and next steps for Duchenne Newborn Screening on both the state and federal levels. 

What is Newborn Screening?

• Annie Kennedy, Chief of Policy, Advocacy, and Patient Engagement for the EveryLife Foundation, provided a comprehensive overview of newborn screening, detailing what the process entails and what happens in the case of a positive or “out of range” screen. 

She also explained how the Duchenne community has worked since 2007 towards building a national newborn screening infrastructure.

Federal & State Updates

• Paul Melmeyer, Vice President, Public Policy and Advocacy at MDA, shared an update on the Duchenne nomination package for the federal Recommended Uniform Screening Panel (RUSP). He indicated that PPMD and MDA have requested a delay of the vote until August 2024 at the earliest to allow for additional data to become available and considered by the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC). 
• Jill Castle, Director of Education and Disability Services at LHF, provided an update on where newborn screening legislation is moving in the states. Additionally, Jill discussed the strategic approach and considerations in determining if a state is a good candidate to pursue newborn screening advocacy efforts at this time. 
• Finally, Lauren Stanford, PPMD’s Director of Advocacy, shared information about how community members can get involved in the ongoing state and federal efforts. 

Looking Forward: ACHDNC Meeting, May 9, 2024

The upcoming ACHDNC meeting on May 9th marks an important milestone for Duchenne’s nomination to the RUSP. Following the thorough evidence review period initiated in August 2023, we are now at a crucial stage where our community will advocate for a brief delay in the final vote to allow for a more comprehensive consideration of additional data. PPMD, MDA, and community advocates will provide testimony during this meeting in support of adding Duchenne newborn screening to the RUSP and our request to delay the final vote. 

Join us in witnessing the meeting testimonies and discussions by registering to virtually attend the ACHDNC meeting here. PPMD will continue to share updates as the process continues.

Get Involved

If you are interested in supporting state or federal newborn screening efforts by sharing your story or contacting your state elected officials, please fill out this interest form or reach out to Lauren Stanford at lauren@parentprojectmd.org with any questions.

Newborn Screening Advocacy Interest Form

Watch the Webinar Recording