A TREATMENT JOURNEY: Jumping Hurdles, Taking Risks

“If someone told me that having access to perfect vision tomorrow meant not having impaired vision for my entire life, I would not change the past. While my visual impairment has created many challenges, it has shaped who I am and influenced me in many positive ways. I’ve become more resourceful, compassionate, creative, and resilient.” —Jack McCormick

Jack McCormick lives a story of hope, tenacity, and measured success while embracing an unknown visual future. When Jack was two, a diagnosis of cone-rod dystrophy confirmed that he had impaired vision. As a teenager, genetic testing revealed that he had Leber congenital amaurosis type 2 (LCA2), due to a mutation in the RPE65 gene and that he was losing his vision. This form of LCA interferes with the production of the RPE65 protein affecting the eyes’ ability to process Vitamin A, leading to progressive vision loss. “It was tough to accept. I was only 15 and thought my life would be a certain way. Now, it was going to be different,” Jack recalled.

Fast-forward to 2022, when Jack, now 25, was treated with LUXTURNA®, a gene therapy for RPE65, becoming the first Canadian to receive a gene therapy. But his journey to treatment involved overcoming substantial hurdles with the Canadian healthcare system, even as his sight declined.

To have a chance for treatment, Jack realized he had to advocate for LUXTURNA to be available in Canada. “I wrote letters to Parliament and was interviewed on national television to create awareness and to help expedite the process,” he explained. “My vision was getting worse every time I visited the eye doctor, and my window as a viable patient for this treatment was quickly narrowing.”

Even after clearing the bureaucratic obstacles and identifying a hospital and qualified surgeons, there was still no clear path for funding the expensive treatment. “There was a year lag between Health Canada approving LUXTURNA and my lining up private funding,” he said.

While Jack wanted the treatment, the immediate or long-term outcomes were not guaranteed. His doctors set his expectations sufficiently low, saying he might see a little better in dim lighting. “My goal was to have stable vision for longer,” he said.

Jack finally received the treatment in March 2022. But the surgery was not easy. It took a long time to recover, and the effects were not immediate. His eye with the poorest vision was treated first, and the second eye was treated two weeks later.

“It is important to be realistic about the surgery. They’re injecting an air bubble and a drug into your eye. There are incisions with microscopic stitches that rub against the eye, causing an intense headache,” Jack said. “I was on my back for the first 24 hours. Later, I had to prevent putting pressure on the eye and couldn’t bend over.”

Another huge challenge was having to quickly decide after the first surgery whether to pursue the treatment for the right eye. “With my left eye, it took a week to see what I saw before the surgery,” he explained. “A few days later, my doctors began talking about the next surgery, and I still wasn’t seeing better. It was very stressful and resulted in multiple conversations with my ophthalmologists about whether to proceed.”

After weighing the risks, Jack chose to have his right eye treated. “At that point, my goal was to see as well as I did before the surgery and, ideally, a little better,” he said. “I’m very happy I did it because the treatment made a much bigger difference for my right eye.” His doctors were also pleased when testing showed vision improvement in dim lighting and an increase in color detection.

“Before the surgery, I didn’t see much walking around the city at night. Now, I might notice someone passing me. I can also see the lines of a crosswalk,” he said. “For me, these improvements are huge!” It’s unknown how long these changes will last, but it’s a future Jack is willing to live with.

His advice for people seeking treatment is to be persistent. “My obstacles were fighting the government and finding a way to pay for the treatment privately,” Jack said. “It’s also vital to find a community. It’s one thing to be a visually impaired person saying that I need this treatment. But it is much more impactful when a group says the same thing and gets others to care about it. Allying with organizations like Hope in Focus helps unite our voices while providing much-needed support and education.”

Jack McCormick graduated in 2018 from Canada’s Wilfrid Laurier University in Waterloo, Ontario. He was diagnosed in high school with LCA2 RPE65. Jack is a Hope in Focus ambassador, helping people living with LCA and IRDs. You can read his blog at jackdamccormick.wordpress.com