Thirteen-year-old Jaxson Flynt of Haslet was almost 2 years old when doctors delivered a prognosis no parent wants to hear: he likely wouldn't live past age 5. More than a decade later, he attends public school, plays baseball, competes in track and field, and bowls — all while his family keeps chasing research dollars for the ultra-rare genetic disorder that was supposed to define a much shorter life.
Jaxson was diagnosed with a single-gene defect in MTRFR, also known as C12orf65, on October 30, 2014, according to CureCMT. As reported by the Fort Worth Star-Telegram, his doctors didn't think he would live past age 5 — a prognosis tied to a condition that falls under Leigh syndrome, a mitochondrial disease. Mother Lindsey Flynt has described the disease, per the Star-Telegram, as like a full set of batteries, with Jaxson's running on low.
From Wheelchair to Ballfield
Jaxson no longer needs a wheelchair, has progressed far enough in physical therapy to attend public school, and now plays baseball, track and field, and bowling, according to Yahoo. He also does weekly aquatic therapy with physical therapist Lucy Martin to help build strength, the outlet reports. MTRFR/C12orf65-related disease may result in CMT6, Leigh syndrome, Spastic Paraplegia-55, Behr syndrome and COXPD, per CureCMT.
How rare is Jaxson's specific mutation? The accounts diverge. Yahoo's report says he is one of fewer than 50 people known to researchers with this specific gene mutation, while an event page from Defender Outdoors has described Jaxson as one of seven known people in the world living with the rare mitochondrial condition.
Seventh Annual Clay Shoot and a $1.1 Million Milestone
The Flynt family, who live in Haslet, have organized an annual clay-shooting event with Defender Outdoors through a group called Jaxson's Crusaders. The group's seventh annual Shotguns & Guitars event, held October 17, brought in more than $250,000 and pushed the group's total raised to more than $1.1 million, the Star-Telegram reports.
That fundraising supports research into Jaxson's disease through the Hereditary Neuropathy Foundation, according to the same account. The latest haul is earmarked specifically to fund a rat model of Jaxson's gene mutation, which is expected to be studied at UT Southwestern next year.
The Push Toward a Gene Therapy
The family's next target is another $2.2 million, which the Star-Telegram's report describes as the average cost to get a gene therapy approved. Broader scientific groundwork is already underway: a Cambridge-led natural-history study identified 33 patients previously reported internationally with MTRFR/C12orf65 deficiency, according to the Hereditary Neuropathy Foundation, and the University of Cambridge has enrolled 15 patients, including Jaxson, in its own natural-history study of the mutation, per CureCMT.
Researchers have also grown patient-derived stem cells into neurons that show signs of mitochondrial dysfunction and could help screen potential drugs, CureCMT notes, while scientists at the University of Helsinki are testing possible biological treatments in disease models. Mouse models developed by Jackson Laboratories found that loss of MTRFR is harmful, but that replacing the gene with a healthy copy can prevent those negative effects.
A Doctor's Perspective on Parents Who Refuse to Shrink
Dr. Amy Goldstein, an attending physician in the Division of Genetic and Genomic Medicine at Children's Hospital of Philadelphia who specializes in mitochondrial disease, said many parents facing a rare diagnosis see their world shrink. Jaxson's parents, she said, have not allowed that to happen, according to the Star-Telegram's reporting.
Families chasing cures for ultra-rare diseases have found success before. In 2014, the O'Neill family raised $1 million in just a few weeks through a viral campaign to fund Sanfilippo syndrome research, according to NPR, and their fundraising soon reached $2 million. Eight family foundations ultimately kept that research funded until the first human trial began in May 2016, NPR reported.
Gene therapy itself remains an expensive frontier. Hemgenix, a gene therapy for adults with hemophilia B, costs $3.5 million for a one-time intravenous infusion and was approved in November 2022, according to AJMC.
