For more than a decade, PPMD has been at the forefront of advocating for Duchenne newborn screening, reflecting our commitment to early diagnosis and better care. This includes the successful completion of a pioneering pilot study in New York State, and the development of a comprehensive nomination package for federal review, all aimed at establishing Duchenne newborn screening. 

State Power in Newborn Screening

While federal review is important, each state has the authority to decide which conditions are included in their newborn screening programs. As part of our ongoing commitment, PPMD is diligently working to support states interested in adding Duchenne to their newborn screening panels. These collective efforts recently culminated in an extraordinary milestone as Ohio made history by becoming the first state to legislate universal newborn screening for Duchenne. Today, these continued efforts have yielded another significant leap forward, this time taking place in Minnesota. 

Progress in Minnesota

More than a year ago, Duchenne specialists in Minnesota initiated a review by the state’s Advisory Committee on Heritable and Congenital Disorders to advocate for the inclusion of Duchenne in Minnesota’s newborn screening panel. Today marked a significant development as the Advisory Committee convened for its review meeting, and voted to recommend inclusion of Duchenne for newborn screening in Minnesota.  

The next pivotal step in this process involves the state Commissioner’s review, with the hope and expectation of approving Duchenne for newborn screening in Minnesota. If approved, Minnesota will begin the preparations to implement Duchenne newborn screening in the state. 

We extend our heartfelt gratitude to all the families and clinicians who provided testimony and contributed to the review process in Minnesota. Your unwavering efforts have paved the way for this remarkable success!

Real Stories, Real Impact

During today’s meeting, parent and advocate Marit Sivertson (left) shared the story of her son’s diagnosis and how early diagnosis enabled optimal care.

“Today is a new day for people living with Duchenne. We finally have a groundbreaking treatment available for these boys, so you have the ability to equip Minnesota parents with something incredibly powerful: information to give their child a better quality of life. With early diagnosis, their children have a fighting chance to receive a treatment that forever changed the trajectory of my own son’s life.”

Niki Armstrong (right), PPMD’s Newborn Screening lead, provided comments at the meeting on behalf of PPMD and our ongoing efforts to advance newborn screening. She emphasized the significance of early diagnosis, which allows for early initiation of medical therapies and early intervention services. Niki explained why newborn screening is crucial to PPMD:

“PPMD’s mission is to accelerate research, impact policy, demand optimal care for every single family, and strive to ensure access to approved therapies. Demanding optimal care, ensuring access to therapies means care when it has the ability to provide the most benefit—early in a child’s life.” 

Supporting Families

For newborns diagnosed with Duchenne, care will include monitoring their development and providing appropriate physical and speech therapy, genetic counseling and carrier screening for family members, and initiating care early, allowing families to develop relationships with their care teams and to consider all treatment options.  

PPMD is here to support all families with Duchenne, including families with newborns identified through newborn screening. This includes developing education materials for families with a newly diagnosed newborn, connecting families with experienced peer mentors, and helping to educate pediatricians and primary care physicians who are involved in the newborn screening process. The PPMD For You team is also available to help answer any questions. Click here to schedule a one-to-one meeting with an expert member of the PPMD team for personalized support.

Get Involved

This is another pivotal step forward for newborn screening for Duchenne, but it’s just the beginning. 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.  

If you are interested in supporting state or federal efforts by sharing your story or contacting your state elected officials, please reach out to Lauren Stanford at lauren@parentprojectmd.org.  

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