For more than a decade, PPMD has been at the forefront of advocating for Duchenne newborn screening. In 2023, we expanded our ongoing work in the space by conducting a parent survey to build evidence and understanding of the benefits of newborn screening for Duchenne. The results of the study have been published in the International Journal of Neonatal Screening.

Drawing from the experiences of newborn screening efforts in other conditions, it is clear that comparing outcome data from a younger sibling diagnosed at an earlier age with an older sibling diagnosed and treated at an older age is instrumental in providing evidence in support of early diagnosis. Until now, this information about parents’ lived experience of early diagnosis did not exist for the Duchenne community. 

Working with parents and long-time collaborators at The Ohio State University, PPMD designed a qualitative survey to learn how parents experienced the differences between their children’s diagnoses. The study utilized The Duchenne Registry and Facebook groups to invite parents or caregivers with two or more children living with Duchenne. Specifically, these parents and caregivers were asked if having a younger sibling with Duchenne who was diagnosed at an earlier age, led to greater benefit or greater harm to families. 

Key Insights

Most parents reported finding early diagnosis highly beneficial for their family, especially when considering:

• Time to evaluate treatment options
• Access to medical services through their state or Medicaid
• Preparation for school

Parents reported that increased worry (or, more time to worry) was the most common downside associated with early diagnosis. However, the reported benefits of earlier diagnosis overwhelmingly outweighed the potential associated harms. 

Next Steps

This research emphasizes a few ongoing needs within the Duchenne community as it relates to newborn screening and early diagnosis, including: 

• Consideration for the unique needs of, and most appropriate ways to support, families of multiple children diagnosed with Duchenne.
• The creation of care guidelines tailored to infants and toddlers, many of whom are younger siblings of older children living with Duchenne.

Our vision is to ensure that all babies in all states have the same opportunities for diagnosis and care. PPMD continues to work towards the inclusion of Duchenne on the federal Recommended Uniform Screening panel (RUSP), promoting newborn screening for Duchenne in other states, and expanding additional Certified Duchenne Care Centers across the country. 

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