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Saturday marks first Batten Disease Day By Philip Jankowski Saturday is the first Batten Disease Day, marked to bring awareness to the rare terminal neurological disease, which currently has no cure. The disease is a degenerative genetic disorder affecting children. Symptoms include loss of cognitive abilities like vision and speech. Currently there is no cure for the terminal disease. Taylor resident Jessica Thacker’s son Austin, 7, has gone blind as a result of the disease. Doctors diagnosed Thacker’s daughter Lacey, 6, with the disease though she currently does not exhibit any symptoms. One of the most important parts of Batten Disease Day, Thacker said, is to raise awareness of the debilitating disease in order to keep parents from subjecting their children to a lengthy diagnosis process that can include invasive and uncomfortable testing. “We went through probably six or seven doctors and we kept getting the run around. ‘He’s just playing,’ the doctors said,” Thacker said. Teachers suggested glasses, doctors checked for brain tumors and a Taylor-area ophthalmologist checked for more than 200 diseases affecting vision. Eventually, a top ophthalmologist in Houston diagnosed Austin with Batten Disease. The Thacker family is dealing with the disease as best as they can, often finding strength in Austin, who continues to amaze them by living as normal a childhood he can despite the disease. Austin rides a bike, swims and can still find a way to sneak snacks from the kitchen, Thacker said. “Nothing is wrong in his mind, and that’s the way I want to keep it. He’s got friends just like everyone else. He fights with his siblings just like anyone else. He’s just as normal as anyone else, just without vision,” Thacker said. “I know most people meet him and say he is the sweetest, purest person, and I feel that too. He is one of a kind for sure.” Though Lacey has no symptoms, Thacker said she worries her daughter may not be dealing with the disease as well as Austin. “She is full of questions and wants answers now. She knows when you’re lying. She is more afraid than Austin and does not know what is going on,” Thacker said. Batten disease manifests itself most commonly between the ages of 4 and 10, though it has been seen in infants, said Lance Johnston, the Batten Disease Support and Research Association (BDSRA) executive director. Common symptoms include seizures, vision problems, clumsiness and slow or repetitive speech. Children afflicted may eventually experience mental regression possibly leading to dementia. Johnston and the BDSRA came up with the idea for a Batten Disease Day to help parents learn and find support about the disease, while at the same time raising funds for research leading to treatments and ultimately a cure. Doctors diagnosed Johnston’s daughter with the disease, who eventually died from the illness, in 1985. Through research, the BDSRA has discovered the genes responsible for eight of the 10 varieties of the disease. They have also helped fund a trial for gene therapy for the infant form of the disease. The federal government provides $3 million a year for Batten Disease research, Johnston said, but that is not nearly enough since the disease encompasses 10 separate genetic disorders. One treatment may be effective for one form but not for another, he said. Currently the BDSRA is trying to raise $500,000 to begin a new trial for the juvenile type Austin and Lacey Thacker have. “A half a million isn’t a lot in today’s world, but when it has to come from families with sick children, it’s an enormous amount,” Johnston said. “This trial could be our miracle,” Thacker said. “We’re waiting for it and we just need the funding to get started.” The BDSRA accepts checks, money orders and credit cards. To make a donation or for further information, call the BDSRA at 1 (800) 448-4570.
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