Bruce Friedman’s oldest son, Josh, had a profound impact on anyone he met. “He had a great sense of humor,” says Friedman. “Everybody just loved him.”
Josh attended Unionville High School, played baseball in his local Challenger League, and was in the drama club. He loved participating in Special Olympics and his school’s Best Buddies program.
In 2011, at age 17, Josh died from complications of dyskeratosis congenita (DC), a progressive telomere disorder. Specifically for Josh, DC caused him to have a slew of health issues, such as microcephaly, problems with his digestive system, and, ultimately, bone marrow failure.
There were less than 300 people in the world with DC in 2002 when Josh was diagnosed, Friedman says, and most have different variants of the disease. That number is closer to 1,000 people today, Friedman says, but it is still, clearly, very rare.
“That makes funding research for it difficult,” Friedman explains.
Facilitating translational research and therapy development for these types of diseases is the goal of Penn Medicine’s Orphan Disease Center (ODC), which is gearing up again for its biggest event—the Million Dollar Bike Ride.
More than 25 cycling teams representing different diseases, including cystic fibrosis, Castleman disease, and Friedreich’s ataxia, are raising funds for rare disease research this year. Their efforts culminate on Saturday, May 7, when cyclists will gather on Penn’s campus to ride 12, 33, or 73 miles starting and ending in University City.
The team Friedman leads is named after his son and the nonprofit organization that helped his family throughout the years, DC Outreach. “Team Josh & the DCO Riders” is looking to raise at least $10,000 this year to accompany the $10,000 it raised last year.
Once a team raises a minimum of $20,000, the ODC has promised to match it dollar-for-dollar up to $50,000. The ODC then provides an infrastructure to distribute pilot research grants with the funds.
“The grant that will come out of this will be about $40,000 or $50,000,” says Friedman. “It may enable some research that could lead to a much bigger grant.”
In just two years of existence, the Ride raised $2 million. The ODC ensures that 100 percent of the funds raised go toward pilot grants.
This will be the third year that Lisa Schill, vice president of RASopathies Network, takes part in the Ride.
“It’s harder for researchers to get money through government funds,” says Schill, whose 7-year-old son Maxwell has Noonan syndrome. “We have to step up and help or we’re not going to find treatments and cures for our families.” In the past, RASopathies Network garnered about 24 cyclists per event. Schill says she’s hoping her team’s new “virtual component,” which encourages participants even if they can’t ride locally, gets even more people involved this year.
RASopathies Network will also be in charge of operating one of the water stops. Cards with notes of encouragement made by children with RASopathies will be handed out.
For those who want to get involved but are unable to cycle, the home base for the event will be at the Penn Ice Rink, and is open to the public. There will be information on rare diseases, games, food, and more.
Visit the Ride’s website to donate, join a team, ride as an independent, or volunteer. Participants can sign up through the morning of May 7, with the registration fees increasing as the event nears.