A father and son from West Chester are trying to raise awareness about an extremely rare disease and help researchers discover more.
Few doctors have treated a patient with Bardet-Biedl syndrome, and few know how to pronounce the disease (bar-day beed-el). BBS is a genetic disorder that can cause a wide range of symptoms, including blindness, obesity, polydactyly (being born with extra fingers or toes), and intellectual disability.
The syndrome affects about 1 in 150,000 newborns, according to the United States National Library of Medicine, and only a handful of families in the greater Philadelphia area have a child with BBS.
Almost 10 years ago, Tim Ogden and his 15-year-old son, Nathaniel, helped establish the Bardet-Biedl Syndrome Foundation, which they say is the only nonprofit organization in North America dedicated to sickness.
On Saturday, the couple will ride a tandem bike and cycle 30 miles from Exton Park in Chester County to the steps of the Philadelphia Museum of Art as part of the fourth Rocky Ride for BBS research.
Nathaniel may have been the first person diagnosed with the condition before birth, Ogden said. A doctor at Children’s Hospital in Philadelphia detected BBS while he was in utero.
âI have complete retinal degeneration and I’m almost completely blind,â Nathaniel told Metro. âI was hungry all the time, but I had medicine for it. I also had extra fingers and toes.
By sixth grade he had mastered Braille, which he uses for most of his second grade reading and writing at Henderson High School in West Chester.
Ogden said Nathaniel wasn’t able to take his first steps until he was 4, and then only with the help of a walker. Building muscle is difficult for him and others with BBS.
In the weeks leading up to the Rocky Ride, Nathaniel and his father went from 5 km to 40 km.
Five other tandem teams and a total of 23 riders signed up to join them on Saturday. Ogden said the foundation hopes to raise $ 20,000.
Most of the money will be donated to a clinical registry that documents people with BBS and collects their health information to learn more about the disease.
âYou still need the same amount of money to do research on a rare disease as you do on a common disease,â Ogden said. “But it’s a lot harder to do and that’s why we’ve been so focused on making sure we can do it again this year.”
Last year’s Rocky Ride was canceled due to the coronavirus. The father-son duo, inspired by the “Rocky” movies, first completed the 30-mile trek in 2017.
â(Rocky) knew he was going to lose, that he was entering a much tougher battle than he could ever win on his own,â Ogden said. “But he wanted to do it anyway.”
âI am absolutely a huge fan of this post,â he added. âCertainly for Nathaniel and I, it’s a battle that matters, and we can’t do it alone. We’re not going to win alone. We may never win.
It’s not too late to accompany Ogden and Nathaniel or to cheer them on as they climb the steps of the art museum. They expect to arrive on the Parkway between noon and 12:30 p.m.
For more information, visit www.bardetbiedl.org/rockyride.