Genomic Science Kept My Boys from Going Blind A rare disease almost took their eyesight, but before their world went dark, a medical miracle happened. By Kristin Papiro
https://www.wsj.com/articles/genomic-science-kept-my-boys-from-going-blind-11575063112?mod=opinion_lead_pos6
Nine years ago, my family attended a medical conference in Philadelphia for the genetically unblessed. My husband, Eddie, and I found kinship with the other parents there, born of shared purpose: We refused to accept the diagnosis that our child was going blind.
Not long after we brought my newborn son, Anthony, home from the hospital, we noticed his eyes kept darting to the nearest light. If left in a room alone, he couldn’t self-soothe unless we placed him beside a sunlit window out of which he would obsessively gaze. He was eventually diagnosed with Leber congenital amaurosis, or LCA, a rare retinal disease affecting one out of every 50,000 newborns.
If you think of your eye as a camera, LCA isn’t a problem with the lens; the camera itself is broken. The eye cannot properly transmit light and color to the brain. For Anthony, it was like viewing the world permanently through a pair of sunglasses. It was only a matter of time, the doctors agreed, before the lights went out completely.
In 2010 we had learned about promising animal research that was about to move into human clinical trials. At the conference we watched a presentation describing how scientists were injecting modified DNA into the eyes of dogs with LCA, stopping their vision loss. However, that research applied to only 8% of the patient population—those who had the RPE65 gene type.
We gathered in a breakout session with about 50 other parents after the presentation. A nice guy from a drug company went around the room, family by family, and chatted with us. Of all the LCA patients, he found only two kids with the lucky number 65 gene. One of them was ours.
At age 6, Anthony became one of the first patients in human clinical trials for Spark Therapeutics’s experimental gene therapy to treat this rare form of congenital blindness. Our primary goal was to stop further deterioration in his sight. What we got was that and so much more.
After the treatment Anthony had fresh observations about my eye color and wedding pictures that had been on our walls for years. Follow-up eye exams measuring visual acuity and light sensitivity confirmed what was plainly obvious: Gene therapy hadn’t only halted Anthony’s vision loss; it had yielded measurable vision gain. The permanent sunglasses weren’t off completely, but they were several shades brighter.
Soon I gave birth to our second son, Nicholas. The odds were one in four that he would develop LCA, too. I’ll never forget the day I entered Nicholas’ room to get him out of the bassinet. Standing in the doorway, I recoiled at the sight: He was gazing keenly at the window. Genetic misfortune had found us again.
But the clinical trial was over, so we waited for a miracle. A week before Christmas in 2017, the FDA gave us one. Luxturna became the first gene therapy ever commercially approved in the U.S. to treat a disease caused by mutations in a single gene. Nicholas got the treatment, and his vision improved even more than Anthony’s. His ability to detect lower levels of light increased by a factor of 10,000, our ophthalmologist said.
We hear a lot these days about high drug prices but less about the long-term savings medical breakthroughs produce for society and families like mine: no Braille teachers, no occupational therapists, no Social Security disability benefits, no workplace accommodations, no caregivers or drivers. Health economists need to take a look at the monetary value of that!
To us, having sons who can see is priceless. My family is living a modern-day medical miracle. Yet the struggles of the parents who didn’t draw lucky number 65 are never far from my thoughts.
This April we were sitting in our ophthalmologist’s waiting room at the Perelman Center for Advanced Medicine in Philadelphia, where we met an 11-year-old boy wearing an eye patch. He, too, had LCA. In the familiar lexicon of our disease community, we asked his parents their son’s gene type. He had RDH12. We asked if there was any promising research. They made a gloomy reference to animal testing that had started and then stopped. Not for medical or safety reasons, they said. The funding suddenly dried up.
As politicians in Washington debate whether to get into the business of dictating how much a cure is worth to a patient, I hope someone will stand up for Americans living with rare diseases—one in 10 of our fellow citizens. I hope our collective outrage over the opioid crisis and insulin prices doesn’t lead our elected officials to take rash actions. If we stop funding genetic research, we’ll leave more children in waiting rooms praying for a miracle that never comes.
I was told that both of my sons are destined to go blind, only to see that prognosis twice reversed. I compare that feeling to winning the lottery, when the jackpot is your kids’ eyesight. Yet my heart aches for the families whose number has yet to be called.
The genomic researchers producing this incredible science deserve more, not less, investment. Thanks to them, my boys can see the light.
Mrs. Papiro is a registered nurse in Newark, Del.
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