Gene Research Reversed Congenital Blindness Genomic Science Kept My Boys from Going Blind

by delmeyer on 02/06/2020 8:24 PM

A rare disease almost took their eyesight, but before their world went dark,
 a medical miracle happened.

By Kristin Papiro | WSJ | Nov. 29, 2019

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. . .

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.

Read the entire report in the WSJ:   

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