A rare genetic disease that keeps you awake until you die has one former Harvard Law School student doing all she can to learn about the illness before it possibly kills her.
Back in 2010, Sonia Vallabh was studying law when she learned that her mother had become ill. Her mother had trouble seeing, lost her memory, and was speaking in tongues.
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At the age of 52, Vallabh’s mother died in December of that same year. She died of a disease known as fatal familial insomnia (FFI).
“She was fitful and couldn’t really tell you if she’d been awake or asleep,” Vallabh told CNN.
FFI, which wasn’t given a name until 1986, is caused by a brain abnormality similar to mad cow disease. Patients suffering from this illness experience a months-long descent into a dementia-like state as the brain loses the ability to sleep, New York Post reports.
“There’s this one protein that’s sort of at the heart of this disease, the prion protein,” Vallabh said. “This is a protein that we all have. We’re all producing it all the time and it’s part of normal biology, but it’s capable of undergoing … a change in shape.”
The doctor who figured out what was causing the fatal insomnia was Dr. Pierluigi Gambetti, a pathologist at Case Western Reserve University. Gambetti says that an FFI patient’s brain looks normal except for one distinct area that is “like a sponge.”
Gambetti says the abnormal prions essentially chew through the thalamus of the brain.
“We don’t know why that specific mutation … causes that particular part of the brain to be affected,” Dr. Michael Geschwind, a neurologist at the University of California, San Francisco said. “That’s a big mystery.”
After her mother’s death, Vallabh tested positive, which is a 50/50 chance, for the FFI gene. She immediately dropped out of law school and, with her husband, is currently pursuing a Ph.D. at Harvard Medical School.
Together, Vallabh and her husband found the Prion Alliance and are working to find a cure.
“It’s virtually unprecedented that two people with zero scientific background would parachute into science and start working in the laboratory to think up four or five completely different strategies for taking on a complex neurological disorder,” Eric S. Lander, president of the Broad Institute where Vallabh and her husband study, said. “Then again, you know, unprecedented things happen all the time in science.”
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