MURRIETA, CA — The Purdy family is inviting the community out for a day of mini golf, laser tag, and go-karts — all to raise money in the search for a cure for their 8-year-old son’s ultra-rare condition.
When Paxton Purdy turned 7, he was diagnosed with a genetic disorder, CLCN6, which causes progressive neurodegeneration. The condition, which causes severe developmental issues affecting everything from speech to motor functions, was only just discovered 20 years ago. Now, his family is fighting to fund a first-ever clinical trial to treat the effects of the mutation.
On June 1, the Muligan Family Fun Center will host the Purdy family’s Cure CLCN6 Fundraiser from 1 to 5 p.m. For every purchase, 10 percent will go to the family’s nonprofit, Cure CLCN6, created to raise funds and drive further research. Attendees must bring a digital or printed copy of this flyer to any register to ensure the purchase goes to Paxton’s cause.
For the past year, Paul and Kristin Purdy have fought to save their son’s life — and to bring hope to other families facing the same devastating diagnosis.
Last year, Paxton’s father, Paul Purdy, began researching gene therapies when he discovered work at the University of Massachusetts Horae Gene Therapy Center. Scientists agreed to study Paxton’s specific mutation using a specialized mouse model funded through the National Institute of Health.
The goal? To design a first-of-its-kind gene therapy vector to help halt or reverse the effects of Paxton’s condition.
Developing the treatment, however, comes with a daunting price tag — an estimated $1.5 million. To date, the family’s GoFundMe campaign has raised $82,091.
Kristin Purdy, Paxton’s mother, is also competing in a competition called The Super Mom to raise money for Paxton. If she wins, she’ll receive $20,000, which will go toward Paxton’s gene therapy, Paul told Patch on Friday, adding that she is currently in second place in the quarterfinals.
Aside from a large contribution to Paxton’s cure fund, the winnings also include an appearance in Woman’s World magazine and a weekend getaway in Napa.
Though no cure for CLCN6 exists — and none has ever been developed—Paul and Kristin are determined to change that.
A 2020 study on children with a rare mutation of the CLCN6 gene included just four patients. Two of them, both young children, have since died. With no existing treatment or cure, the condition remains largely unknown. Today, 8-year-old Paxton — who was initially diagnosed with autism — is one of only 30 known cases in the world.
Since he was a toddler, Paxton has undergone speech, occupational, and physical therapy for autism. His sister, Aria, is also on the spectrum, so Paul and Kristin believed they were familiar with the kind of care Paxton would need.
But around age 5, everything changed. He began experiencing severe seizures that escalated over time, eventually requiring hospitalization in early 2023 despite multiple medications. Later on, genetic testing revealed a rare mutation on his CLCN6 gene — likely the root cause of both his seizures and a broader neurodegenerative decline.
Paxton also struggles with motor planning, making simple tasks like climbing stairs, holding a cup, or feeding himself a challenge.
His anti-seizure medications often leave him groggy and, paradoxically, more prone to seizures when he falls asleep. In school, Paxton attends special education classes and needs near-constant support — from using the bathroom to transitioning between activities.
Still, his parents say Paxton is a joyful child who lights up around other kids, even if he can’t always join in the way he wants to.
“He just likes being around people,” Paul told Patch earlier this year.
Paul is determined to spare other families the same hopelessness he felt when Paxton was first diagnosed. That’s why the family’s nonprofit aims not only to help Paxton but also to provide a resource for others who may discover they, too, have this rare mutation.
“This gene therapy, it’s going to be a first in the world,” Purdy said. “This little boy right here will be the first in the world to undergo this gene therapy. He’ll be in the history books.”
