Deadly Insomnia a Devastating 'Family Curse'

One woman with FFI gene mutation hopes to find a cure
By Arden Dier,  Newser Staff
Posted Sep 20, 2017 9:20 AM CDT
Deadly Insomnia a Devastating 'Family Curse'
President Obama listens to Sonia Vallabh, right, Ph.D. student, Broad Institute of MIT and Harvard, during a panel discussion as part of the White House Precision Medicine Initiative (PMI) in Washington, Thursday, Feb. 25, 2016.   (AP Photo/Pablo Martinez Monsivais)

In 2010, Sonia Vallabh noticed her mother acting oddly. "She was fitful and couldn't really tell you if she'd been awake or asleep," Vallabh tells CNN. Soon, the 52-year-old couldn't recognize her daughter and would spasm and speak in tongues. Upon her death months later, Vallabh recalls her father, a doctor, warning, "Her disease was genetic." Those words would change the course of Vallabh's life. Vallabh and her husband both quit their jobs and are now getting their PhDs in biology at Harvard Medical School in the hope that they can find a cure for fatal familial insomnia before it takes her life. FFI is caused by a gene mutation that Vallabh has inherited as a member of one of the few affected families in the world. Says a member of another such family: "It's been a disaster. A brutal suffering."

Research on FFI began in 1984 when an Italian man named Silvano urged sleep scientists at the University of Bologna to discover "the cause of the curse of my family." Researchers watched as Silvano, 53, struggled to sleep while his body jerked him awake, preventing the restorative stage of sleep. A brain analysis later revealed two sections of his brain's switchboard, or thalamus, had been destroyed by abnormal prion proteins, affecting the sleep-wake cycle. For now, relatives can only undergo a genetic test and wait for the disease to hit, usually in their 50s. But Vallabh wants a different outcome. "The hope has to be always that you find a cure," says a pathologist, who imagines a time when "fatal" will be erased from FFI's name. The BBC reported last year on a drug that may keep abnormal prions from forming. (More on Vallabh and her husband here.)

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