Father funds bespoke gene therapy to save daughter with ultra-rare NGLY1 disease

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SAN FRANCISCO — Matt Wilsey adjusted the plastic tube coming out of his 15-year-old daughter’s stomach and tried, again, not to think beyond the next 15 minutes. His job was to be there with Grace and let his wife, Kristen, rest. He could not think about the future. He could not wonder, again, if he had made the right choice or if his daughter would survive.

Three weeks before, Grace received a gene therapy meant to save her life and spare her further harm from NGLY1 deficiency , an ultra-rare genetic condition that came with a cascade of profound developmental challenges, preventing her from ever speaking or walking with ease.

Wilsey fashioned the therapy himself.

He did not sit in the lab. He did not inject the rats or slice open their brains. But he had hired the scientists who did. He recruited advisers, including Nobel Prize winners, brought together the families of other children diagnosed with the condition, and pulled together an A-team of investors and donors. Through it all, he was sustained by his devout Catholic faith.

He came to accept that Grace would never live an independent life. But he hoped the drug would allow her to live longer, maybe even say a few words. And he believed the game plan he wrote might serve as a guide to curing hundreds of other rare diseases.

“We carry the hopes of many,” he wrote to his staff once. “I’m not just talking about NGLY1 families. I receive emails, calls, and texts from professionals and other advocates. They are blown away by what we have accomplished and hope we are an ice breaker for them. Our trial has the potential to really boost / save a decimated field.”

Then the drug meant to save Grace’s life landed her back in the hospital, feebler than she had ever been. He sat beside his daughter, with her soft eyes and long braided hair, her face all puffed up, and prayed her condition would improve.

For a father and his sick child, it was a matter of life and death. But the entire pharmaceutical industry was watching, too.

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