It all started in 2006 when Justin Henke of Middletown, Del., was diagnosed with FOP, short for fibrodysplasia ossificans progressiva, at age 6, shortly after the FOP gene was discovered in the the Center for Research in FOP and Related Disorders by Eileen Shore, PhD, a research professor of Genetics and Orthopaedic Surgery, Frederick S. Kaplan, MD, professor of Orthopaedic Molecular Medicine, and colleagues. After genetic testing at Penn Medicine confirmed Justin's diagnosis, his baby teeth also provided researchers with a safe and crucial source of progenitor stem cells for basic science research into the ultimate cause of FOP.
The main goal for the FOP and McKay Orthopaedic labs’ participation this first time at the Delaware Marathon Running Festival says Wendy Henke, Justin’s mom, was to raise awareness about FOP and the importance of early diagnosis, as well as research dollars. Most individuals remain undiagnosed until symptoms arise, sometime in the first two decades of life. However, the first sign at birth of FOP is often apparent -- malformed big toes. Early diagnosis is crucial in a preemptive battle against the debilitating effects of FOP.
“Every signature we gathered at the race, it is hoped, will symbolize someone now familiar with infant FOP toes,” Wendy noted of the hundreds of people to whom they gave informational handouts. In addition to dissemination of this important information, they raised close to $10,000 for FOP research.
FOP turns otherwise healthy connective tissue (muscles, ligaments, and tendons) to bone, rendering movement impossible. Trauma from bruises, viruses, intramuscular shots, and surgeries may exacerbate flare-ups. FOP is an extremely rare disease – Justin is the only known patient in Delaware out of the 800 or so known worldwide.
At the marathon, Team FOP had 88 runners and 27 volunteers, with 22 runners and four volunteers from Penn Medicine, including the lab headed by Shore. The running festival took place on May 10 -- Mother’s Day and Justin’s 15th birthday.
“When Wendy asked for support to get a team together and raise awareness for FOP, I jumped at the chance,” said Ruth McCarrick-Walmsley, an avid runner and manager of the Shore lab at Penn. “Postdoctoral fellow Sun Peck and I turned it into a New Year’s resolution challenge for our colleagues and the response was overwhelming!”
Wendy also helped McCarrick-Walmsley develop the “Tooth Ferry Project,” and came up with the project name’s play on words. “She would meet me halfway on I-95 for baby-tooth handovers from all of her kids, plus half the kids in Delaware, I believe!” said McCarrick-Walmsley, noting that she and her colleagues have a unique relationship with FOP patient families: “I think it's incredibly motivating to our researchers to meet and work with the people that benefit from their efforts. The benefit goes both ways, with patient families getting a feel for the passionate nature of our scientists and the lab folks getting a renewed focus for their energies by meeting these terrific people.”
Marathoner Peck, a postdoctoral researcher in Lachlan Smith's lab in the departments of Neurosurgery and Orthopaedic Surgery, also works on a rare, genetic disease called MPS (mucopolysaccharidoses).
“Most of us who work on rare diseases often don’t get a chance to put a name or a face on the disease we are studying, so it was a great experience for me to be able to do just that at the race, even on another rare disease,” she said. “It certainly helps to keep things in perspective and to know that your research is making a difference for real people and real families.”
Indeed, in addition to the money and awareness that was raised, the researchers helped make the day a memorable birthday for a teen. “Justin says he'll never forget his birthday cake - resembling him swimming laps in a pool of blue Jello - lovingly baked and decorated by the “Tooth Ferry” and her helpers the night before the race,” Wendy said.