Parents and patient advocates urged the House Health Committee on Friday to add Duchenne muscular dystrophy to Pennsylvania’s newborn screening panel so affected children can start treatments earlier and avoid harmful interventions.

"I have a 21 year old son, named Elijah who lives with Duchenne muscular dystrophy," Amy Akins, director of patient access at the Little Hercules Foundation and mother of a person with DMD, told the committee. Akins described her family’s multigenerational experience with Duchenne and said that earlier diagnosis avoided strength‑building therapies that can injure muscle in undiagnosed children and allowed for earlier access to therapies and trials once treatments became available.

Akins noted that multiple therapies have been approved for DMD and that early initiation of treatment can preserve muscle function. She said advocacy groups supported a nomination to the Pennsylvania technical advisory board and asked the committee to expedite consideration; Representative comments indicated the committee intends to allow a TAB review and monitor its timing.

Secretary Bogan confirmed the TAB had received an application on Duchenne and that a subcommittee meeting was being scheduled. Committee members asked the Department to provide written timelines because legislation (House Bill 1715) proposing newborn screening for DMD is pending. No formal vote took place at the hearing.

Advocates and members cited interstate activity: panelists reported multiple states have approved newborn screening for DMD or moved through implementation steps, and members urged the Department to coordinate scheduling to provide the committee timely notice of the TAB decision.

The committee did not act on pending legislation during the hearing.