By Cindy Mindell ~ <\/p>\n
WEST HARTFORD Its not often that philanthropic donors to a medical cause can see their money pushing researchers over the finish line. But those helping to fund efforts to cure Glycogen Storage Disease (GSD) Type 1a may soon become the rare exception. Last month, A Cure for Sure raised $470,000 toward the $2 million needed to get FDA approval on new gene therapy that has already cured GSD-stricken dogs. The fundraiser was organized and chaired by Gayle and Steve Temkin, and Regan and Barry Stein, two West Hartford couples whose children have the disease. GSD is an inherited disorder caused by the buildup of a complex sugar, glycogen, in the bodys cells. The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally. The disease was almost universally fatal until 1971, when the first effective therapy edible cornstarch was discovered. When treated properly, patients are healthy, but inadequate treatment may result in permanent neurologic damage, seizures, or even death. <\/p>\n
Dr. David Weinstein <\/p>\n
Dr. David Weinstein treats 400 of the estimated 1,100 people afflicted with this type of GSD throughout the world, mostly Jewish. In 2005, he left Harvard Medical School and Boston Childrens Hospital to create the University of Florida Glycogen Storage Disease Program in Gainsville, where he could perform gene therapy on dogs born with GSD. Since then, Weinstein and his research team have cured 10 dogs of the disease at what is the worlds largest clinical and research program for glycogen storage diseases. When the Temkins first brought their daughter, Alyssa, to Weinstein six years ago for lifesaving treatment, she was 15 months old and the doctor had cured one dog. The Temkins went on to establish the Alyssas Angel Fund, which funds travel and treatment for other families with children who have GSD. Every Labor Day weekend for the last three years, the Mandell JCC of Greater Hartford Family Room Parenting Center has sponsored the Big Wheel Derby fundraiser to benefit the fund. Last year, before the event, Weinstein came to West Hartford and met with the Temkins and Steins. We would do anything in our power to support David, says Gayle Temkin. He told us that he needed $2 million to take the gene therapy to the FDA and start human trials. Why couldnt we at least start the fundraising for him? I felt that if I didnt work hard to find a cure and make the effort public, nobody would ever know about it. The Steins approached Alan and Marcia Lazowski, whose son is best friends with their son. According to Temkin, Alan told them, Ive been waiting for an opportunity to help you, and agreed to host a fundraising event. In the wake of A Cure for Sure, the $250,000 goal was nearly doubled by donations from Greater Hartford and Chicago, where the Temkins and Steins hope to organize another fundraiser. People are really feeling that this is the first time ever that theyre part of a cure, Gayle says. For me as a parent, its amazing to be able to say that. Human trials of Weinsteins gene therapy are slated to begin in 2013. For the Temkins, that goal is critical, as Alyssa is the only identified person with GSD who cannot tolerate the cornstarch therapy. But as plans for the fourth annual Big Wheel Derby start to take shape, the fundraiser is infused with new hope and energy, Gayle says. Whats so special now about Alyssas Angel Fund is that, once the cure happens, we can help families without insurance to get the gene therapy. Most of the dogs in Weinsteins program receive two intravenous treatments, at $15,000 each; human subjects will undergo both IV and surgical procedures. So right now, pushing for Alyssas Angel Fund is as important as pushing for A Cure for Sure, she says. <\/p>\n<\/p>\n
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Close to a cure: Greater Hartford takes on rare Jewish genetic disease<\/a><\/p>\n","protected":false},"excerpt":{"rendered":" By Cindy Mindell ~ WEST HARTFORD Its not often that philanthropic donors to a medical cause can see their money pushing researchers over the finish line. But those helping to fund efforts to cure Glycogen Storage Disease (GSD) Type 1a may soon become the rare exception. Last month, A Cure for Sure raised $470,000 toward the $2 million needed to get FDA approval on new gene therapy that has already cured GSD-stricken dogs. Continue reading