Last year, PPMD hosted a Duchenne Early Care meeting as part of the 2023 Duchenne Healthcare Professionals Summit, focusing on key aspects of care for the youngest children in our Duchenne community, in preparation for expanding newborn screening for Duchenne. Bringing together experts, the meeting delved into how to best care for babies and toddlers and how to support families and parents when diagnosis is made in those age groups. Following the meeting, numerous attendees contributed to a report of the discussions, which was recently accepted for publication in the Journal of Neuromuscular Diseases and will enable the broader community of Duchenne healthcare providers to learn from the discussions. 

Key Insights & Next Steps

The discussions at the meeting highlighted the importance of several next steps, including:

• Creating care guidelines specifically designed for babies and toddlers.
• Developing tools to support young children and families. 

PPMD is actively working on these initiatives to make sure every person with Duchenne receives optimal care. 

Supporting Families in Early Diagnosis & Care

In addition to these action items, PPMD continues to drive forward work across multiple initiatives to reduce the age of diagnosis, eliminate the diagnostic odyssey, and make diagnosis equitable. This includes our work to include Duchenne on the federal Recommended Uniform Screening panel (RUSP), to advance newborn screening for Duchenne on the state level throughout the U.S., and to develop additional Certified Duchenne Care Centers across the country. 

For individuals living with Duchenne, early diagnosis allows for the initiation of medical therapies and intervention services when they have the ability to provide the most benefit—early in a child’s life.

To learn more about PPMD’s work in newborn screening, click here.