"Look, I'm so sorry to do this to you on your birthday," Hayley Webb, a television reporter in Australia, recalled her mom saying in 2012. "I have six months to live."
A month later, her mother, Narelle, was calling her by the wrong name, hallucinating and falling over. She could hear the cries of a baby she lost when he was 6 months old.
"Initially, we would try and reason with her, but we ended up playing into her reality to make it easier for her," said Hayley's brother, Lachlan, co-founder of an urban development startup.
But perhaps most strikingly, their mother couldn't fall into a deep sleep.
"You're in this gray area, in this limbo land between being awake and being asleep," Webb said. "You get into a perpetual stage of a dream."
She died in July 2012 at 61 years old.
The same thing happened to their grandmother -- and they learned it could be passed down to them….
In 1986, this disease was given a name: fatal familial insomnia, or FFI.
Much of what doctors first learned about the disease comes from a family in Venice, Italy, who have suffered from it for over 200 years.
"You'd have 14 kids in a generation. Six or seven of them would die from the disease," said D.T. Max, a writer for the New Yorker and author of the book "The Family That Couldn't Sleep."…
FFI is caused by a single, dominant gene mutation, meaning the Webbs and Vallabh had a 50-50 chance of inheriting the gene themselves. There is no cure….
When the results came in, the Webb siblings and Vallabh all tested positive for the FFI gene.
"I think I was more devastated about Lachlan's diagnosis than my own, because I just wasn't expecting it," said Hayley Webb, now 31.
"You know, I'm the big sister," she said of her 29-year-old brother. "I want to protect him. He's my little brother."
"You know when you get fuzzy-brained when you're really exhausted?" Webb says in a video diary. "I think, Crap! Is that a symptom? Subconsciously, you can't help but be scared."
But all of them have turned a dire test result into motivation, mirroring Silvano's determination to get to the bottom of his "family curse."
Hayley and Lachlan Webb are participating in Geschwind's study at UCSF. Soon after learning that she had the FFI gene, Vallabh, 33, quit her job in consulting, began sitting in on classes at MIT and took biology courses at Harvard Extension School.
"My thought was, 'I'll take a sabbatical from my normal life, because this is something that's going to be important to us from now until the end,' " she said.
She and her husband, Minikel, switched career paths; they are now getting their Ph.D.s in biology at Harvard Medical School, where they are working to find a cure for FFI before it's too late. They founded the Prion Alliance to advance the science of this rare disease, which is known to affect only a handful of families worldwide.
Sonia Vallabh and Eric Minikel became scientists after learning that Vallabh carried the gene for fatal familial insomnia.
Because they see human prion diseases under the same umbrella, they hope their research leads to treatments for more than just FFI.
"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," said Eric S. Lander, president of the Broad Institute, where Vallabh and Minikel conduct their research.
"Then again, you know, unprecedented things happen all the time in science," Lander said.
Vallabh and Minikel remain optimistic and see FFI's rareness as an asset. It's genetically well-defined -- more so than many more common diseases. They know their prion target; they just have to find a way to remove it.
They remain hopeful that their new daughter, whom they welcomed to the world in July, will watch her mother grow old.
Thanks to genetic testing and in vitro fertilization, their daughter does not have the FFI gene.
Courtesy of a colleague
Courtesy of a colleague