I'm the most unlikely person to be in a story about research—I wasn't interested in it. Then, in 2000, I became Shannon's mom. She's a beautiful young girl with a genetic condition called Phelan-McDermid syndrome. When she was about ten, our support group asked me to help create a registry of parent-reported information about the condition. I flat-out said, “I have no interest in research. It's not going to help her in her lifetime.” But they wouldn't let it go. So I put my toe in the research pool, and after six years, I’ve ended up in the deep end.

I've learned that there’s research happening right now that will help my daughter live a better life. I’ve gone full circle, from “this isn’t for me,” to “this is my passion, and this is how I can best help my child.”

Becoming part of our registry is a great first step for families to get past their initial intimidation about research. Rare diseases don’t get as much attention or funding as more common illnesses, so if families don’t get involved in this research, it might never get done. We’re trying to make studying these diseases more attractive to the research community, so we create low-hanging fruit for them. We create databases; we create bio-sample collections; we create collections of IPS cells, a type of stem cell that could help us better understand how certain diseases develop. Researchers don't have to recruit our families, we’re already there. We’re saving these researchers time and money. 

Through a PCORI-funded project, we brought 40 researchers to our family conference. They spent two days sitting with families, listening to parents talk about their day-to-day challenges. We had real conversations. Researchers explained how studying mice is helping them understand movement issues, sleep disruptions, and other symptoms common with Phelan-McDermid syndrome. Suddenly everybody's speaking the same language. It was invaluable to make that connection between the research that was being done and the problems the families were having.

Megan O'Boyle, whose 16-year-old daughter has Phelan-McDermid Syndrome, is the principal investigator for PCORnet’s Phelan-McDermid Syndrome Data Network (PMS_DN) and the Phelan-McDermid Syndrome International Registry. O’Boyle advocates including the patient’s voice in research, drug development, clinical trial design, development of legislation, and quality-of-life decisions.