Couple Quit Jobs, Became Scientists to Save Her Life
By Elizabeth Armstrong Moore
June 20, 2017
When Sonia Vallabh watched her mother die a horrible death in 2010, caught in limbo between sleep and wakefulness that led to severe dementia, she and her husband, Eric Minikel, wanted answers.
The autopsy revealed a harrowing diagnosis: a prion disease called fatal familial insomnia, or FFI, reports the Boston Globe. Not long thereafter, Vallabh, then in her 20s, learned that she carried the genetic mutation as well. The tiny error in her mother's DNA—an A where there should have been a G that resulted in a clumping of proteins that killed brain cells and prevented her from falling asleep—lives in Vallabh, reports NPR.
The disease usually rears its head around age 50, though it has surfaced as early as 12; Vallabh's mother died at 51. And it moves fast: "You're healthy and then you're falling off a cliff," says Vallabh. To avoid another early death, they decided to find a cure themselves.
Read the full story on Newser.com
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