The global Duchenne community will come together on September 7 for World Duchenne Awareness Day. This year a theme was chosen that is not only critical to changing the diagnostic odyssey for people with Duchenne…it is a theme that the PPMD team believes strongly in: the importance of early diagnosis.
In this blog series leading up to World Duchenne Awareness Day, you will hear from PPMD team members about the ways we are changing the landscape in an effort to promote early diagnosis, and how you can help us tell the world about Duchenne on September 7!
Every single one in our Duchenne community has a story.
Like most, these stories include a date of birth, the history behind your name, family lore about your big ‘firsts’ – first words, first steps, first smile. But in our Duchenne community our stories also include a date of diagnosis. A date no parent in this community ever forgets.
But certainly not the day the worry sets in.
In fact, what most also share is a long and convoluted diagnostic odyssey. One that sometimes begins when a parent expresses concerns to a clinical provider – and then is sent for physical therapy. Or when a preschool teacher expresses concerns to a parent – and parents head to the internet. Or when concerned parents notice that their child is standing from the floor differently than his/her peers – or cautiously approaching curbs while siblings careen carelessly.
And this odyssey costs time, money, and takes a physical toll on the parents – but most of all on the young toddler or child. Blood tests, biopsies, physical exams, doctor visits – and in some cases EMGs and minor surgical procedures.
Some extending for years.
In 2009, an article published in the Journal of Pediatrics based on MD STARnet surveillance data collected from families with Duchenne showed that the average delay between detected onset of symptoms and definitive diagnosis was 2.5 years and that the average age of diagnosis had been unchanged in 20 years. [reference: Ciafaloni E, Fox DJ, Pandya S et al. Delayed diagnosis in Duchenne muscular dystrophy: data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet). J Pediatr. 2009 Sep;155(3):380-5]
This was not acceptable.
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.
In 2011, PPMD received a grant from the CDC to develop a mechanism to facilitate the early identification of muscle disease in children ages 6 months to 5 years old. Led by Dr. Kathy Mathews of the University of Iowa and Holly Peay, PhD of PPMD, a collaboration was formed which included professional societies and federal agencies and yielded the development of a motor delay algorithm, a video library, and supporting materials all available to primary care providers at ChildMuscleWeakness.org. Together the organizations that worked to develop this resource, including the American Academy of Pediatrics, disseminated this resource and provided training to pediatric providers throughout the U.S. in an effort to make an impact on early identification of infants and toddlers with muscle diseases.
While the tools developed were tremendous resources, in 2015 the mean age of diagnosis for Duchenne in the U.S. was age 4, according to both the CDC’s MD STARnet data set and PPMD’s DuchenneConnect.
This, too, is not acceptable.
Again – our PPMD community is not stopping. The only national public health system for early diagnosis in the United States is newborn screening. So PPMD has been working towards establishing Duchenne as a condition ready for a nomination to the national Recommended Uniform Screening Panel (RUSP). A process overseen by a federally appointed committee and requiring that the condition meet specific and rigorous requirements, our efforts began two years ago with the formation of a national Duchenne Newborn Screening Steering Committee led by me, Dr. Michele Lloyd-Puyear, a pediatric geneticist, world-renown expert in newborn screening and a consultant for PPMD, and Dr. Jerry Mendell of Nationwide Children’s in Ohio.
Our program includes:
At the center of every one of these efforts has been our Duchenne community.
From advocacy efforts that yielded the passage of the MD-CARE Act which authorized MD STARnet (three times!), to annual Advocacy Conference and Hill outreach that ensures critical report language and appropriations funding for these programs to the federal agencies that support these efforts, to the families who have served on the committees for each of these programs, responded to surveys, shared their stories and videos for the training tools and websites, given presentations to clinical providers, and more. None of this happens without every single one in our powerful Duchenne community.
Early diagnosis is about every single story. It is about closing the gap on the date you first worried and the date your received a diagnosis. And, now as more and more effective treatments seek approval, it's about ensuring that children with Duchenne receive access to therapies at the most optimal moment possible.
September 7 is World Duchenne Awareness Day!