September is National Newborn Screening Awareness month and PPMD has been helping to put Duchenne on the newborn screening map — the WORLD map.
Our community understands the inherent benefits of early diagnosis. We know that knowledge is power. We know that Duchenne is a multi-systemic disorder and that the absence of dystrophin leads to a cascade of events within a child that are optimally treated the earlier we can intervene. Early intervention programs, proper physical therapy, steroids and promising experimental therapies – the earlier we intervene, the better. But there is more. The ability to make informed decisions as a family about housing, career moves, health insurance carriers and life insurance, family planning – being empowered is critical to thriving with Duchenne.
And for that reason PPMD has left no stone unturned, working to lessen or eliminate the diagnostic odyssey for our Duchenne community, educate providers, and empower newly diagnosed families with supportive and comprehensive information.
Last week, I was invited to present about PPMD’s National Duchenne Newborn Screening Program efforts at the American College of Medical Genetic’s (ACMG) Newborn Screening Translational Research Network (NBSTRN) Annual meeting in Washington, DC. Later that same day, a panel comprise of ethicists affiliated with the PPMD Duchenne NBS workgroup focused on ethics was facilitated by PPMD’s Michele Lloyd-Puryear, MD PhD who led a discussion of the risks and merits of population screening of males and females, versus males only.
This week, Duchenne newborn screening is on the world stage as PPMD was asked to present at the International Society for Newborn Screening in the Hague, Netherlands. Michele Puryear spoke about PPMD’s ck validation effort with PerkinElmer and the California Department of Health, our collaboration with NBSTRN, and our ongoing efforts to work towards a national infrastructure for newborn screening for Duchenne in the U.S.