June 05, 2015
Scoble Family/Facebook
Eight-year-old Joshua Scoble was diagnosed at three months old with Fibrodysplasia Ossificans Progressiva (FOP), a rare, inherited disorder causes the body’s skeletal muscles and soft connective tissue to undergo a transformation into bone.
Tommy Snyder has been a bartender at The Stonewall in Allentown for six months, but he's hoping the skills he's picked up will help ensure a lifetime of promise for 8-year-old Josh Scoble.
At three months old, Scoble, who lives in Emmaus, was diagnosed with Fibrodysplasia Ossificans Progressiva (FOP), one of the rarest genetic conditions known to medicine. Only 800 confirmed cases exist in the world, with 285 known cases in the United States. According to the International Fibrodysplasia Ossificans Progressiva Association (IFOPA), the University of Pennsylvania School of Medicine is the only U.S. lab dedicated to FOP research and discovered the gene responsible for it in 2006.
FOP causes bone to form in muscles, tendons, ligaments, and other connective tissues, constraining mobility and potentially restricting vital functions such as respiration and eating. Josh's shoulders and neck have already fused and, after a fall while walking to school in the winter of 2013, his hip became fused to his leg.
With FOP, "Flare-ups" like this can occur spontaneously or as a result of trauma ranging from falls to viral illnesses, leaving Josh in constant danger of deepening complications.
A close family friend of one of Josh's aunts, Snyder (pictured left) is using his talents behind the bar for a chance to win $5,000 that will go toward Joshua's Future of Promises, a non-profit organization established to raise money for FOP research and help families affected by the disorder.
On Cinco de Mayo, Snyder competed in the Philadelphia regional competition of the Stoli Key West Cocktail Classic, America's only international LGBT bartending competition. Out of seven competitors, Tommy's original "Stoli Lazy Lemonade" won him a trip to Key West, Florida, to compete in the Cocktail Classic Finale from June 10-14.
"We had to make a drink based on Stolichnaya Vodka," Snyder said, "so I made a rosemary-infused Vodka and then I mixed in peach Schnapps, lemoncello, and lemonade -- with a twist of lemon and a sprig of rosemary. We were judged based on originality, taste and presentation, and when the scores were tallied, I won."
Now representing Joshua's Future of Promises as his charity of choice, Synder is hoping to leapfrog the round of fourteen competitors next Friday and advance directly to the final round of eight. To do so, he needs to finish in the top two of an online vote that will close on Sunday night. You can help Tommy and Josh by placing your vote here.
With an advantage in the vote, Tommy says he can direct his attention to the competition itself.
"My whole focus is on getting out there, getting my head where it needs to be, and winning that whole thing. There's nothing I would love more than taking home that big check for little Joshy," Snyder told PhillyVoice. "If I can come back from Key West with $5,000 for the research, that's huge."
As for Josh, Snyder says he doesn't view his FOP as a handicap. His aunts run an annual bingo for him and, when asked in school what he feels lucky for, Josh said it was the bingo.
Adult clinical trials for Clementia Pharmaceuticals' FOP drug research are just beginning now. Snyder hopes this will be step toward the breakthrough that can help stop Josh's condition from progressing.
"It's so close to home," Snyder said. "To see the challenges Josh faces now and in the future makes me want to do anything I possibly can to help him and the Scoble family. I want to bring home the win for Josh, so we can move forward toward a cure instead of just preventive measures.""
Place your vote here and share this story to support Tommy, Josh, and FOP research.
