This Rare Genetic Disease Keeps You Awake Until You Die

A woman and her husband completely changed career paths to study a deadly disease that killed her mother she learned she inherited.

Sonia Vallabh was studying at Harvard Law school in 2010 when her mother became ill. She had trouble seeing, lost her memory and spoke in tongues.

“She was fitful and couldn’t really tell you if she’d been awake or asleep,” Vallabh told CNN. Her mother died in December of that year at 52. Shortly after, Vallahb learned that her death was caused by an extremely rare genetic disease known as fatal familial insomnia (FFI.)

FFI wasn’t given a name until 1986 and only affects a few dozen families throughout the world. Caused by a brain abnormality similar to mad cow disease, FFI patients suffer a months-long descent into a dementia-like state as the brain loses its ability to fall asleep.

“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.”

If a change in shape occurs, the prions begin to create abnormal prions which then begin to kill brain cells as they spread. In FFI patients, the abnormal prions attack the thalamus, the center of our brain which controls consciousness, sight and sleep.

Most of the information on the disorder has been gathered from a family in Venice, Italy, whose line has have suffered from FFI for more than two centuries.

“You’d have 14 kids in a generation. Six or seven of them would die from the disease,” D.T. Max, author of the book “The Family That Couldn’t Sleep,” told CNN. Doctors sometimes listed the family members’ cause of death as exhaustion or schizophrenia.

But in 1984, one family member — Silvano— took himself to a nearby research university once he began showing symptoms. During his final months, scientists at the University of Bologna videotaped the 53-year-old and recorded his actions, none of which included a deep sleep.

After his death in July, 1984, his brain tissue was shipped to Dr. Pierluigi Gambetti, a pathologist at Case Western Reserve University, who figured out what was causing the fatal insomnia.

Gambetti said Silvano’s brain tissue looked normal except for one distinct area that “like a sponge,” which he immediately recognized from other diseases caused by prions. The abnormal prions essentially chewed through Silvano’s thalamus. In Silvano’s case — and the case of other FFI patients — the prions attack the piece of the thalamus that controls sleep.

“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 told CNN. “That’s a big mystery.”

After her mother’s death, Vallabh tested positive — a 50/50 chance — for the FFI gene. She dropped out of law school and, along with her husband, is currently pursuing a PhD at Harvard Medical School. Together, they founded 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 conduct their research, told CNN. “Then again, you know, unprecedented things happen all the time in science.”