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An Austin Mother’s Decade-Long Search for a Cure

Tags: austin texas
DATE POSTED:April 29, 2024
Alice McConnell co-founded biopharmaceutical company Speragen after both her children were diagnosed with a rare genetic disorder.“Imagine you’re five years old, you’ve just had five margaritas, and your parents send you off to school,” says Alice McConnell, sipping hot tea at her kitchen table in northwest Austin. She isn’t setting up a joke, but explaining what it feels like for someone to have succinic semialdehyde dehydrogenase deficiency, a debilitating genetic disorder that is estimated to affect 1 in 460,000 people worldwide. That would suggest there are more than 17,000 active cases today, yet only 450 patients have ever been diagnosed. Two of those are McConnell’s own children.“If I only had one [kid with it], I might not have answered the call,” she says. “But I got two. The universe hit me upside the head and said, ‘Hey, pay attention.’ ”“The call” led…

The post An Austin Mother’s Decade-Long Search for a Cure appeared first on Texas Monthly.

Tags: austin texas