Family raises money for son's gene therapy and clinical trial to treat rare genetic mutation

Paxton Purdy is the sweetest little 7-year-old.

"No matter what he's going through, matter what seizures he has, he's the sweetest, most loving boy," his mom Kristin Purdy said. 

Paxton's parents said he has an ultra-rare neurodegenerative genetic mutation on his CLCN6 gene. Essentially, it's a chloride channel in his brain that greatly impacts his central nervous system. It caused autism, severe epileptic seizures and affected his ability to walk and talk. 

"We're just trying to put all of our anxiety and dread into some kind of tangible action," father Paul Purdy said. "Into raising awareness and ultimately raising the funds so he can get this treatment he needs."

But getting that treatment, creating a unique gene therapy for Paxton and funding a first-of-its-kind clinical trial at a university is akin to shooting for the stars. 

"So. about $3 million is our price tag," Paul said. 

Paul Purdy says Paxton's specific mutation has never been studied meaning the gene therapy is experimental. While the technology is still in its infancy they say a similar gene therapy has proven to be successful. They're reaching out to the community and world to help raise money for Paxton's gene therapy. 

"I can't even describe that feeling," Kristin said. "It would mean everything to me."

Paul shares the same hopes as his wife; that their child could have a long, happy and healthy life. 

"My hopes for him are that he'll be able to regain some of his skills, walk himself, eat independently, that he can live a long, happy, healthy life."

However, they hope that it not only helps Paxton but advances gene therapy to help others. 

"As a parent, once you get equipped with the knowledge that there is something that can be done," Paul said. "The technology exists to develop treatment and one day, a cure. We're not resting until that happens."

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For more information visit the "Paxton's Pioneers" Facebook page here. If you would like to contact the Purdy's email: contactus@cureclcn6.org.