MURRIETA, CA — Shortly after Paxton Purdy turned 7, doctors told his parents that their son had an ultra-rare genetic disorder — one that had only been identified in the past 20 years.
Research published in 2020 on children with a rare mutation of their CLCN6 gene included four patients. Two of those patients, both young children, have died. There’s currently no treatment or cure. Today, Paxton, who was previously diagnosed with autism, is just one of 30 known cases.
“We’ll follow up with you in two years,” a genetics counselor told them.
“Your whole world comes crashing down. You’re in shock. You start going through the stages of grief — everything except for acceptance,” Paxton’s father, Paul Purdy told Patch. “You don’t know what the future holds for your child. You don’t know how much time they have.”
Despite this devastating news, Purdy and his wife Kristin refused to give up. After being told there was no cure, they set out to fund a first-ever clinical trial to treat the effects of the mutation.
Since he was a toddler, Paxton, now 8, has been receiving therapy for autism — including speech, occupational and physical therapy. His sister, Aria, also has a form of autism, so the Purdy’s felt they had a handle on the type of care Paxton would need. But around age 5, Paxton’s condition took a dramatic turn when he began suffering severe seizures that intensified over time. Even with multiple medications, Paxton was hospitalized in early 2023. Soon after, further testing revealed that his mutation on the CLCN6 gene was likely driving both his seizures and a broader neurodegenerative process.
Paxton’s challenges extend far beyond his seizure disorder. He has significant difficulty with motor planning; everyday tasks like climbing stairs, holding a cup or feeding himself require assistance. Anti-seizure medications often leave him groggy during the day and can trigger more seizures whenever he dozes off. At school, the 8-year-old attends special education classes, but he needs support in nearly every aspect of daily life — from using the bathroom to transitioning between activities.
Still, Paxton’s parents describe him as a happy child who lights up around other kids, even if his ability to communicate and play with them is limited.
“He just likes being around people,” Purdy said.
Last year, 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. Purdy and his wife have formed a nonprofit — Cure CLCN6 — to raise funds and drive further research. To date, the family’s GoFundMe campaign has raised $60,828.
The nonprofit is hosting two fundraisers, including one on Friday, Feb. 1, at Mountain Mike’s Pizza in Temecula. The restaurant donating 40% of each purchase when customers mention “Cure CLCN6, Inc.” for dine-in, takeout, or direct delivery orders (third-party apps are not included).
Cure CLCN6, Inc. is also running a shoe drive through March 27 in collaboration with Funds2Orgs. New and gently used shoes will be collected and distributed to micro-entrepreneurs in developing countries. The Purdys’ nonprofit can earn up to 50 cents per pound of donated footwear. Those interested in hosting a shoe drop-off box or scheduling a shoe drive can email [email protected].
Despite the immense challenges, Paul Purdy says the new effort has given their family something they had lost: hope.
“The good news is there is a plan in place to develop this,” Purdy said. “The bad news is that it takes a while to fully develop…probably about three years.”
Since going public, the Purdys were contacted by families in Alabama and Mexico who have children who also have the ultra-rare neurodegenerative mutation.
Like the Purdys, those families also reported being brushed off by medical professionals and told, “We’ll follow up with you in a couple of years.”
“That’s not a conversation any parent ever wants to have and frankly, never should have,” Purdy said. “Because now we know that the ability, the technology, the knowledge to create effective treatments…does exist — but unfortunately, families have to be the ones that fund it.”
In the meantime, Paul and Kristin Purdy’s day-to-day life revolves around therapy appointments, special education support, medication adjustments, and the ever-present worry of when the next seizure might strike.
While Paxton’s future remains uncertain, Purdy is determined to spare other families the same hopelessness he felt upon learning of his son’s diagnosis. His 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.”
For Purdy, the motivation behind developing a first-of-its-kind therapy extends well beyond his immediate family.
“While Paxton is our son —and yes, we are doing this for him — since these other families have come forward…we do feel an additional obligation and motivation to get this done for them as well.”
