What’s new at PPMD? Holly Peay (pronounced P-A). Well, not exactly new, but new in that Holly has joined the staff of PPMD! We first met Holly when working on DuchenneConnect
, the patient self-report registry. She came highly recommended as a genetic counselor, an educator, and an all-around, really smart woman. Her task was to create educational materials for families and for providers – educational information about Duchenne, about genetic testing, about care, about research, about clinical trials; and present it in such as way, that it would be comprehensive and understandable, even if the information was really fresh and even if tears might get in the way of your reading from time to time. She did it! She made very difficult information understandable.
Through DuchenneConnect and the PPMD Community site, we heard stories. Stories about delays in diagnosis…months…years at times. We thought about what we might do to help. We had some experience.
We submitted a grant to the Center for Disease Control (CDC) and were granted a cooperative agreement. The goal of the grant is to educate, to raise awareness about muscle weakness, and to impact the diagnostic odyssey. Our initial experience was in Mississippi. We developed partnerships with healthcare professionals likely to see children in the early years of life (ages birth to 5 years). We wanted to understand what happens when mom, dad, gram, or anyone really, expressed concern about a child’s muscle strength. What words did they use? What happened when they raised concern with the doctor (nurse, physician’s assistant, healthcare professional, teacher).
And we learned that some of the time, concerns are dismissed. We learned that some doctors/healthcare professionals are not exactly sure what they are to look for. We learned that some of the time, referrals to specialists are difficult with long waiting times. We learned that sometimes the response is to send the child to a PT or put them into an exercise program to improve strength. And the diagnostic odyssey continues. Typically mom, dad, gram’s worry is relieved for only a short time because they see something is still not quite right.
With this current cooperative agreement, we are expanding our horizons. Our goal is to educate healthcare professionals and this time, not in just a specific state but rather now through the professional societies. There are too many acronyms to list – but professional societies of every healthcare professional group you can think about – pediatrics, family doctors, physician’s assistants, nurse practitioners, nurses, physical therapy…you get the gist.
We have expanded this effort to include ‘primary muscle disorders of childhood’ – because the message will have greater impact. And Duchenne is the most common
We have developed common messages:
• Watch them walk, run, climb (in the confines of an exam room, sometimes it is difficult to really see what mom, dad, gram is talking about)
• Developmental Delay, include a CK (you already know this one)
• YOU CAN ALWAYS DO SOMETHING! (this is for everyone –do not dismiss worries/concerns. Typically when someone loves someone, they are pretty observant and usually right.)
There is a Task Force leading this effort. Kathy Matthews, MD is Chair. Brian Denger is Project Manager. Task Force Members include representatives from Professional Societies and Advocacy organizations - MDA, PPMD, CMD, SMA.
Holly Peay is the PI on this grant. She is now part of us, part of PPMD. If you see her in the hall, please say hello.