N.J. teens help find cure for bone disease

A $145,000 grant from a group of New Jersey teenagers will help the University's Medical Center search for a cure for Progressive Osseous Heteroplasia (POH) -- a debilitating bone disease that primarily affects children. It is the first time that teenagers are funding major medical research on a genetic disease. The donation came about the New Jersey Association of Student Councils decided last year to raise money for the Ian Foundation, a non-profit organization established by a New Jersey family to raise money for POH research. Penn Orthopedic Surgery Professor Frederick Kaplan explained that the Ian Foundation grant will allow him to increase his research into the disease. "This grant will allow us to bring together a team of scientists for at least three years to begin to focus attention on the molecular cause of this disease and the genetic switch that is abnormally turned on in these children," he said. The NJASC decided to donate money to the Ian Foundation after listening to Sandra Wheeler and her 7-year-old son Ian, who suffers from POH, discuss the rare disorder. In 1994, Ian Wheeler became the first young patient to be diagnosed with POH. The determination was made by Penn's Medical Center after the Wheelers had spent three years trying to find the cause of Ian's disease. Following the diagnosis, Sandra Wheeler created the Ian Foundation to raise money for the Progressive Osseous Heteroplasia Association -- an Illinois-based organization she co-founded with another family to find a cure for POH. She explained that Ian has suffered from the disease since birth, which has affected his left leg and right foot, leaving him unable to walk without a limp or take part in many ordinary, childhood activities. But Sandra Wheeler stressed that her son is "very active' and an "all-boy kind of kid" who longs to do things like ride a bike with his friends. Wheeler said she tried to publicize the disease and support groups that are looking for a cure because she is worried that "the disease is going to get worse and I don't know what's going to happen by the time [Ian's] a teenager." After the Wheelers convinced the NJASC to donate money to the Ian Foundation, Kaplan said that the organization spent over a year raising money for the donation through activities like bake sales, basketball games, car washes, plays and senior proms. The group did so well that it surpassed its original goal of $120,000. Wheeler described the New Jersey students as "excellent" and 'remarkable," noting that the donation proves that "there's really a bunch of great young adults" in the world today. The students explained that they hope their decision to donate money to the foundation will help find a cure and help children. "In this little boy, in this newly discovered disease, we saw an opportunity to make a difference," high school senior and NJASC State Charity Representative Rachel Elkinson said in a Penn Health System press release. Elkinson spearheaded the effort among New Jersey middle- and high-schools along with NJASC President and incoming Penn student Matt Vamvakis. The students were particularly impressed by Kaplan's explanation of the disease, according to Medical Center spokesperson Harriet Levy. "The children look normal at birth with the exception of Rice Krispy-like particles of bones in their skin, often scattered throughout the body," he said. "As the children develop, the normal working structures of the skeletal system get sabotaged by these webs and vines of bone that strangle muscles, envelop the nerves and blood vessels, and ruin the normal working of the skeletal system." Kaplan added that he wants to find a cure because "children are catastrophically affected by this, and whenever a child is affected by something you have to care about it, and if we can learn what the genetic mutation is and why these children form extra bone, we can use that information in much more common conditions when bone forms where it's not supposed to." And although only 24 people in the world have been diagnosed with POH, Kaplan hopes that his team will be able to help find a cure for other bone diseases.