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.
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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.
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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.
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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.
Read full, original post: Genomic Science Kept My Boys from Going Blind