When Dr. Stephen Johnston and his wife, Kristina, learned their young son would likely lose his sight, the Scottsdale couple faced a reality no parent wants to hear.
“It was surreal and devastating,” Stephen Johnston said.
The Johnstons, who are divorced, had suspected something was wrong long before their son, Luke, began showing significant vision problems.
Both healthcare professionals, they had pieced together enough clues to suspect Bardet-Biedl syndrome, a rare genetic disorder that can cause progressive vision loss.
An electroretinogram test and later genetic testing confirmed their fears.
“We spent years processing the grief — denial, anger, sadness and eventually acceptance,” Stephen said.
Although Luke, now 12, remains highly independent although he struggles in low-light environments and is finding it increasingly difficult to locate objects and navigate unfamiliar spaces.
“The typical progression of his condition often accelerates during the teenage years, and we’re beginning to see signs of that now,” Stephen said. “He’s doing remarkably well, but as parents, we’re aware that preserving his independence for as long as possible is a race against time.”
Rather than accept the diagnosis passively, the Johnstons decided to act.
In 2023, they founded A Race Against Blindness, a nonprofit dedicated to funding research into inherited retinal diseases such as retinitis pigmentosa, the condition affecting Luke.
What began as a personal effort to help their son has grown into a significant fundraising force.
Last week, the organization announced a $1 million commitment to support research through the Foundation Fighting Blindness and its venture arm, the Retinal Degeneration Fund.
The contribution includes $775,000 directed to the fund and $225,000 supporting a research award focused on inherited retinal diseases. According to the organizations, a matching gift will effectively double much of the contribution’s impact.
The funding will support research into so-called gene-agnostic therapies, treatments designed to help patients regardless of the specific genetic mutation causing their disease.
Dr. Thomas Mendel at the Ohio State University Wexner Medical Center in Columbus, Ohio, . is researching a new way to deliver retinal gene therapy that could apply across many inherited retinal diseases.
He is testing a surgical approach in preclinical models that delivers gene therapy onto the surface of the retina, rather than beneath it, combined with insulin added to the therapy to accelerate its uptake into retinal cells, according to a release.
“The approach aims to deliver therapy faster and with less inflammation, without compromising retinal function. Because the delivery method is “gene-agnostic,” it has the potential to improve treatment for conditions including Bardet-Biedl syndrome, choroideremia, Leber congenital amaurosis, Stargardt disease, Usher syndrome, and multiple forms of retinitis pigmentosa,” a spokeswoman said.
Established in 1971, the Foundation Fighting Blindness has raised nearly $1 billion toward its mission of accelerating research for preventing, treating, and curing blindness caused by the entire spectrum of retinal degenerative diseases.
It has driven the development of more than 60 retinal disease drug candidates now in clinical trials, a track record that made it a natural partner for A Race Against Blindness.
For the Johnstons, the latest announcement represents another milestone in a journey they never expected to take.
“Not at all,” Stephen said when asked whether he ever imagined the organization would direct millions of dollars toward research.
“In the beginning, we tried traditional fundraising methods and heard a lot more ‘no’ than ‘yes.’ We were discouraged at times and never imagined we’d help direct more than $6 million into research in just three years.”
The organization has now directed more than $6 million toward research aimed at inherited retinal diseases, according to Johnston.
“We’re incredibly grateful to our donors and supporters,” he said. “A Race Against Blindness is truly community-funded, and every contribution has helped turn a parent’s fear into meaningful progress and hope — for us and numerous other families.”
While researchers continue working toward new treatments, the mission remains deeply personal for the Scottsdale family, which hopes children like Luke may someday have more options with the life-changing diagnosis that Luke and his parents received.
Information: FightingBlindness.org, araceagainstblindness.org, and RDfund.org.