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Local Family Faces Challenges Of Fragile X
Their Mission To Find Treament
POSTED: 12:32 pm EDT July 5,
2007
UPDATED: 6:14 pm EDT July 5,
2007
BOSTON -- Had it not been for the apparent murder-suicide of professional wrestler Chris Benoit, most of us may never had heard of Fragile X.Benoit's son suffered from Fragile-X, an inherited form of mental retardation and the leading cause of autism. It is estimated that approximately 100,000 Americans have it.NewsCenter 5’s Liz Brunner reported Thursday that an 18-year-old from Newbury has been struggling with it his whole life.
“He's both very sweet and sociable, and he's very anxious and moody and hyper,” said Katie Klapp, Andy’s mom.From the moment Andy Tranfaglia Klapp was born, his parents suspected something was wrong.“The main thing that we noticed was his head was pretty large, and as he got a little bit older we had trouble with feeding. We also noticed he was a little bit floppy," said Dr. Michael Tranfaglia, Andy’s dad.It wasn't until he turned 3 years old that doctors diagnosed the boy with Fragile X.“It is a form of autism, and it is the leading cause of autism,” said Klapp.Fragile X is a genetic condition. According to The Fragile X Research Foundation, about 1 in 260 women carry Fragile X and could pass it on to their children. About 1 in 800 men are carriers. It affects twice as many males as females.People with this disease have developmental and language delays, autistic behaviors, hyperactivity, and other learning disabilities.“They have a lot of anxiety. They're afraid of social situations, and they have a lot of obsessive-compulsive issues. And later on when the kids get older, there can be problems with aggression issues in the teenage years,” said Tranfaglia.Andy has had a lot of problems with seizures. Medication helps, but it's a double-edged sword.“The medication causes more cognitive impairment and more behavioral problems, too,” said Tranfaglia.Andy's parents are doing everything in their power to find treatments for Fragile X. They are co-founders of Fraxa, an organization that funds research. The latest study out of tge Massachusetts Institute of Technology raises hope for patients with the disorder.“It's a really exciting and interesting finding,” said Tranfaglia.Researchers were able to reverse the symptoms of mental retardation and autism in mice, by blocking a key brain chemical called PAK.“You could actually fix the development disorder itself. You could start to fine-tune those connections in a normal way and actually catch up in development,” said Tranfaglia.As scientists try to find ways to fight the disease, Andy's parents are hopeful for their son's future.“We understand that we're not going to make their lives perfect, but we're hoping to get treatments out there to improve their lives,” said Klapp.
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