![]() ![]() General, analyzing genetic data from people with Huntington’s disease. He quit his job as a software engineer and took a job in the same division of Mass. Minikel, an MIT-educated urban planner, followed soon after. Soon, she left her job in consulting and took a job as a lab technician at the Massachusetts General Hospital’s Center for Human Genetic Research. Vallabh, a Harvard-trained lawyer, began sitting in on science classes at the Massachusetts Institute of Technology. “There was much more research going on, and much more known about prions, than Sonia or I had assumed.” We stayed up discussing what we had learned about the disease that day,” Minikel said. We badgered our friends who were scientists. “We read everything we could about it, from Wikipedia to scientific papers. Scientists were looking into treatments, they discovered-which meant that maybe, just maybe, it was possible to change Vallabh’s fate. To prepare themselves for what lay ahead, she and her husband began to research the condition.īut as the couple started learning more about FFI and other prion diseases, they slowly became more hopeful. The fact that my mom died undiagnosed seemed, to us, the final word on the disease,” Vallabh said. “We didn’t seem to be in a position to do anything about it. The average age of onset for FFI is 50 Vallabh is 30. She, too, harbors the gene, and will almost certainly develop and die from FFI unless treatments are developed that slow or stave off the disease’s progression-and soon. “Once I knew I was at risk, there was no turning back from the knowledge,” she said. Just months after her losing her mother to the disease, Vallabh decided to get herself screened. Children of a parent with FFI have a one in two chance of inheriting a mutated PRNP gene. But unlike Mad Cow, which can be acquired by ingesting contaminated beef, FFI is genetic. In people with FFI and similar diseases, mutated proteins called prions trigger normal proteins in the brain to fold abnormally, destroying brain cells and leaving the brain filled with sponge-like holes. Most of them have pedigrees marred by inexplicably premature deaths.įFI is what’s known as a prion disease, a family of rare progressive neurodegenerative disorders that also includes bovine spongiform encephalopathy, or Mad Cow Disease. There are 28 families worldwide who have the gene for FFI in their bloodlines. “Nobody even for one second suspected fatal familial insomnia, because there’s no sign of neurodegenerative disease in the family,” Vallabh said. Results from an autopsy had also concluded that FFI was a possible cause of death. Vallabh’s mother’s illness remained a mystery for several months after her death, until a piece of tissue taken from her brain tested positive for a mutation in a gene called PRNP that is known to cause FFI. She went on life support, and died a few weeks later.” ![]() She became deeply paranoid and fell into a profound dementia. Over the next few months, Vallabh said, her mother deteriorated rapidly: “She couldn’t walk or talk or feed herself. She was losing weight without trying.” Vallabh recalled. “In the beginning, my mom’s symptoms were vague: speech disturbances, memory problems, small errors in judgment. Shortly after the ceremony, though, Vallabh began to notice that “something was just off.” "It’s an unbelievably swift and brutal way to die." Just months before her death, she said, her mother had been seemingly healthy, helping Vallabh and Minikel plan the details of their wedding. At the time, neither Vallabh nor the doctors-who were unable to come up with a diagnosis-knew much more. “She was just lucid enough to know something horrible was happening to her,” Vallabh said. “It’s an unbelievably swift and brutal way to die,” said Vallabh said.įour years ago, she watched helplessly as her mother hovered in a twilight state-stuck somewhere between wakefulness and sleep-before dying at age 52. Difficulty sleeping soon turns into total insomnia, causing rapid physical and mental deterioration and, inevitably, death-within a year, usually sooner. ![]() For her, insomnia is more than an inconvenience-it’s the first sign of the deadly disease that she and her husband, Eric Minikel, have dedicated their lives to studying.Ĭalled fatal familial insomnia, or FFI, it’s an extremely rare genetic disease that causes progressively worsening sleeplessness. ![]() But Sonia Vallabh dreads those nights more than most. Almost everyone has had at least one night where it’s been impossible to fall asleep. ![]()
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