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Diagnosis leads to heartache By Daniel K. Lai A preliminary diagnosis from Houston doctors on the cause of 6-year-old Austin Thacker's progressive blindness has turned into heartache for one Taylor family. “They have told us they are 98 percent sure it's Batten Disease,” Austin's mother Jessica Thacker said. According to the National Institute of Neurological Disorders and Stroke, Batten Disease is a rare and often fatal inherited disorder of the nervous system that begins in childhood. It is the most common form of a group of disorders called neuronal ceroid lipofuscinoses (NCL). Early symptoms of the disorder usually appear between the ages of five and 10, when parents or physicians may notice a previously normal child has begun to develop vision problems or seizures, the institute states. “Basically, his brain is telling his eyes not to work,” Jessica Thacker said. In October 2006, teachers at T.H. Johnson Elementary told Thacker's parents their son needed glasses because he was pressing his nose up to the computer screen to see. “They told us he failed the eye exam and needed glasses to see,” she said. “We weren't aware of any problems before that. All little children are clumsy, so if he fell, we just assumed he tripped over his feet.” But Thacker said she soon found out that wasn't the case. “The first doctor we saw referred us to a pediatric optometrist who wanted to conduct an MRI to see if he had a brain tumor pressing on his ocular nerve,” she said. “Doctors told us it wasn't a brain tumor but they did not know what could've caused damage to the optic nerve.” In addition, doctors conducted blood work to test for 200 known causes of ocular degeneration but each test came back negative, she said. Thacker said since November, her son's condition has progressively worsened. “He has begun relying more on his hands rather than his eyes to see,” she said. “He has also begun to lose his short term memory.” Thacker said recently her son was playing outside and hit his head on a Tonka truck but couldn't remember what happened. “He told me his head hurt but didn't remember falling,” she said. Doctors at the Children's Hospital in Houston have since told her Austin should not go back to school. “They want all activities to stop,” she said. “It's so hard to tell your most active child that he can't play and have fun.” Since February, the family has had to make several trips to the Houston hospital. “The seizures have already started,” she said. “Doctors have told us we need to put a plan together now to take heroic measures in case one of these seizures cause him to go into a vegetative state.” The NINDS reports Batten Disease and other forms of NCL are relatively rare, occurring in an estimated two to four of every 100,000 children born in the United States. The disorders appear to be more common in Finland, Sweden, other parts of northern Europe and Newfoundland, Canada. Although NCLs are classified as rare diseases, they often strike more than one person in families that carry the defective genes. When both parents carry one defective gene, each of their children faces an increased risk of developing NCL. “If he has it, we have been told our daughter has a 50 to 75 percent chance of having it,” Thacker said. “We just don't know right now because she is still too young.” In order to confirm their diagnosis, doctors have ordered samples of Austin's blood and skin sent to Massachusetts for testing. “We are trying to have an enzyme test done because they can also detect it in the enzymes, that way we won't have to wait six weeks or more to know what is going on,” his mother said. According to the Batten Disease and Research Association, no specific treatment is known that can halt or reverse the symptoms of Batten Disease or other NCLs. However, seizures can sometimes be reduced or controlled with anticonvulsant drugs, and other medical problems can be treated as they arise. “... Over time, affected children suffer mental impairment, worsening seizures and progressive loss of sight and motor skills. Eventually, children with Batten Disease/NCL become blind, bedridden and unable to communicate,” the association states. Thacker said she plans to continue to raise public awareness about the disease. “We are not looking for sympathy,” she said. “This is such a rare disease. If all I can do is advocate for more research and awareness on it, if there is no hope for my family, then I just want people to know that this is out there.”
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