> 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.”
> The family, who prefer not to use their surnames, had kept the disease a family secret for generations, Max said. …
> “It’s been a disaster. A brutal suffering,” said Lucia, 63, one member of the Italian family. She has lost many relatives to the disease, including her father, brother and sister.
> But when another family member, Silvano, started showing signs of the disease – he began sweating profusely, with pinpoint pupils – he decided it was time for his family to stop suffering in silence. It was 1984, and he was 53 years old.
> Silvano went to the University of Bologna, where researchers filmed his final months. In some of the videos, his eyes are half-open, staring into space. Just as it appears he’s dozing off, he jerks to a half-wakefulness.
> “Exactly what you can feel if you get a sleep attack when you are driving,” said Dr. Pietro Cortelli, one of the researchers Silvano approached at the University of Bologna. “You are falling asleep, and then you wake up.”
> “In few months, I’m going to die,” Silvano told Cortelli. “This is one of the few (chances) you have to discover what is the cause of the curse of my family.”
> Silvano died that year, in July 1984. Cortelli and his mentor, Dr. Elio Lugaresi, shipped his brain tissue to Lugaresi’s former student – a pathologist in the United States who could take a much closer look at what was going on.
> Dr. Pierluigi Gambetti, the pathologist and a professor at Case Western Reserve University, found that most of the brain tissue appeared normal. But one small structure, near the center of the brain, looked “like a sponge,” he said.
> “At that moment, I knew what FFI probably was,” he said.
> “There’s this one protein that’s sort of at the heart of this disease, the prion protein,” Vallabh explained. “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.”
> When that change happens, it begins a domino effect. The abnormal prion converts a healthy one, creating two abnormal ones. They go off and convert two more. And so on.
> “As these prions spread, they’re killing brain cells in their wake,” Vallabh said.
> In the case of FFI, these proteins mostly home in on two locations within a central brain structure: the thalamus.
> The spongy tissue that Gambetti found in Silvano’s thalamus was full of tiny holes: the aftermath of prions that left dead cells in their path. And the two spots in the thalamus where he found those holes turned out to be crucial to the sleep-wake cycle. Damaging them can lead to a persistent, deadly insomnia.
hamster-on-popsicle on
🫡
The most terrifying desease
VectorChing101 on
That disease is the same as the movie I’ve seen.
R_122 on
What’s even more disturbing is, there are videos of someone actually going thru it as well recording his suffering as he beg for help from the viewer
4 Comments
https://edition.cnn.com/2017/09/19/health/fatal-insomnia-family-curse-somethings-killing-me
> 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.”
> The family, who prefer not to use their surnames, had kept the disease a family secret for generations, Max said. …
> “It’s been a disaster. A brutal suffering,” said Lucia, 63, one member of the Italian family. She has lost many relatives to the disease, including her father, brother and sister.
> But when another family member, Silvano, started showing signs of the disease – he began sweating profusely, with pinpoint pupils – he decided it was time for his family to stop suffering in silence. It was 1984, and he was 53 years old.
> Silvano went to the University of Bologna, where researchers filmed his final months. In some of the videos, his eyes are half-open, staring into space. Just as it appears he’s dozing off, he jerks to a half-wakefulness.
> “Exactly what you can feel if you get a sleep attack when you are driving,” said Dr. Pietro Cortelli, one of the researchers Silvano approached at the University of Bologna. “You are falling asleep, and then you wake up.”
> “In few months, I’m going to die,” Silvano told Cortelli. “This is one of the few (chances) you have to discover what is the cause of the curse of my family.”
> Silvano died that year, in July 1984. Cortelli and his mentor, Dr. Elio Lugaresi, shipped his brain tissue to Lugaresi’s former student – a pathologist in the United States who could take a much closer look at what was going on.
> Dr. Pierluigi Gambetti, the pathologist and a professor at Case Western Reserve University, found that most of the brain tissue appeared normal. But one small structure, near the center of the brain, looked “like a sponge,” he said.
> “At that moment, I knew what FFI probably was,” he said.
> “There’s this one protein that’s sort of at the heart of this disease, the prion protein,” Vallabh explained. “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.”
> When that change happens, it begins a domino effect. The abnormal prion converts a healthy one, creating two abnormal ones. They go off and convert two more. And so on.
> “As these prions spread, they’re killing brain cells in their wake,” Vallabh said.
> In the case of FFI, these proteins mostly home in on two locations within a central brain structure: the thalamus.
> The spongy tissue that Gambetti found in Silvano’s thalamus was full of tiny holes: the aftermath of prions that left dead cells in their path. And the two spots in the thalamus where he found those holes turned out to be crucial to the sleep-wake cycle. Damaging them can lead to a persistent, deadly insomnia.
🫡
The most terrifying desease
That disease is the same as the movie I’ve seen.
What’s even more disturbing is, there are videos of someone actually going thru it as well recording his suffering as he beg for help from the viewer