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A Living Nightmare

You know those nights when you can’t quite fall asleep, but you’re not awake either? A half-state somewhere between dream, nightmare and wakefulness? Imagine if every night were like that—for days, weeks, months on end. It only ends one way: death, within 12-18 months. There’s a name for this horrific disease: Fatal Familial Insomnia.

Limbo Land

“You’re in this gray area, in this limbo land, between being awake and being asleep,” explains Hayley Webb, a TV reporter in Australia who lost her mother to FFI in 2012. “Your brain is so exhausted that you get into a perpetual stage of a dream. You are in a constant state of dozing for six months basically.” At first Hayley’s mother was clearheaded enough to understand her diagnosis; her mother and several other relatives had died from the rare genetic disease. She told Hayley and her twin brother Lachlan she had half a year to live. A month later, she was already showing signs of dementia, suffering hallucinations, and falling over. “You could tell. We were losing her.” The diagnosis was dead on: her mother died six months later. She was 61.

She was speaking in tongues.

Sonia Vallabh

Sonia Vallabh was in her second year at Harvard Law School when she learned that her healthy and vibrant mother “wasn’t doing so well.” Her mother’s eyesight was off, her weight was plummeting, and she started having incidents of forgetfulness, including a minor car accident, which was out of character for her. Neurologists was stumped; tests were inconclusive. The disease progressed rapidly. Before long, Sonia’s mother was suffering hallucinations and paranoia. As Sonia remembers, “She couldn’t recognize us, was speaking in tongues, was in a state of profound dementia.” Her mother died in 2010 at age 52.

A Family Curse

On another continent, another family has suffered the effects of this ravaging disease for more than 200 years. “People in this town, in this area, would speak of the family having a curse, and even the family itself would sometimes talk of a family curse,” says author D.T. Max, whose book The Family That Couldn’t Sleep details their saga and the race to find a cure. “You’d have 14 kids in a generation. Six or seven of them would die from the disease,” says Max. “Doctors were stumped. They listed the cause of death as nervous exhaustion, encephalitis, even schizophrenia.” The family, in Venice, Italy, kept the disease hush-hush. But then came Silvano.

Well, I’ve got it.

SILVANO, Venice, Italy 1984

Silvano was a charming, charismatic 53-year-old man with movie star looks. In 1984 he was on a cruise with his mother when he began sweating profusely. He began losing weight, and oddly, he noticed his pupils looked like tiny pinpricks. Immediately he knew. It was the family curse. “Well, I’ve got it,” he told a friend. But unlike members of previous generations of his family who ashamedly kept it quiet, he wanted answers. So he checked himself into a renowned sleep clinic at the University of Bologna, where he was attended by a young neurologist named Dr. Pietro Cortelli.

“Silvano, told me, ‘Pietro, I’m gonna tell you, that in few month, I’m going to die,” recalls Dr. Cortelli. “I say, ‘Well, you are pessimistic in this moment, you are probably a bit depressed,’ and he stop me immediately, he say, ‘Well, Pietro, I’m not pessimistic, I really know exactly what is gonna happen to me. This is one of the few chance you have, to discover what is the cause of the curse of my family.'”

Recording Silvano’s decline

Dr. Cortelli and his mentor, Dr. Elio Lugaresi, did something astounding: they recorded Silvano’s decline. Then, after Silvano’s death, they shipped his brain to one of Lugaresi’s former students, Dr. Pierluigi Gambetti, a pathologist and a professor at Case Western Reserve University. Upon dissecting Silvano’s brain, everything appeared normal to Gambetti—with one exception: the thalamus. “It’s a part of the brain that’s not well understood, but appears to operate like a kind of switchboard,” explains D.T. Max. “The thalamus is composed of nuclei. The nuclei impact movement, memory, reasoning, even consciousness. Well, 90% of the neurons in two of the nuclei in Silvano’s thalamus turned out to be completely destroyed.”

“Almost all of them — were gone!” recalls Dr. Gambetti. “So (it) was a very specific attack, in a sense, by the disease.

…and they told two friends…

and so on

and so on

and so on…

faberge shampoo commercial

Silvano’s thalamus looked like a sponge. At that moment Gambetti knew what FFI probably was, because he had seen this spongiform degeneration before: it is the typical lesion of prion diseases, such as mad cow disease, formally known as bovine spongiform encephalopathy (BSE).

All humans have prion proteins and are producing them all the time. But these proteins are capable of shape-shifting. Once one mis-folds, it can touch another, causing it to mis-fold. It’s almost like that old Fabergé shampoo commercial (which stars Heather Locklear – who remembers that?!?): “..and so on, and so on, and so on.”

“So you can think of it as sort of a domino effect that spreads across the brain,” explains Sonia Vallabh. “And as these prions spread, they’re killing brain cells in their wake.”

50-50 chance

One of the most amazing – and terrifying – aspects of FFI is how dominant the mutation is. If a parent dies of the disease, children have a 50-50 chance of inheriting it. Sonia Vallabh, and Hayley and Lachlan Webb, all got tested to see if they have the mutation. They walk us through the agonizing wait for results. We’re by Hayley and Lachlan’s sides as they participate in (sometimes) painful clinical trials at the University of California, San Francisco.

A stunning career turn

Remember Sonia Vallabh was in her second year at Harvard Law School? Her career took an amazing turn after her diagnosis. She and her husband Eric Minikel are now PhD. scientists researching cures for FFI at the Broad Institute of MIT and Harvard. Their organization, CureFFI.org, highlights their lifelong quest to prevent prion disease.

Of the hundreds of hours I’ve produced, this story, which took me and my crew from San Francisco to New York City to Venice, Italy, is among the most riveting. Give it a watch!

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