Oct 14, 2019 10:39 PM
http://blogs.discovermagazine.com/crux/2...aOSA2Z7mUk
EXCERPT: . . . Medical reports of the disease [fatal familial insomnia (FFI)] first surfaced in the 1980s, after an Italian man named Silvano presented himself to neurologists with a dire prediction: He was going to die soon, and he knew how it would happen.
It was no hyperbole — Silvano’s two sisters had recently died from a strange disease that robbed them of their ability to sleep. He had just experienced the same symptoms that kicked off his siblings’ spirals into fatal insomnia. The hallmark of FFI is contained in the name. What starts as difficulty sleeping gradually progresses to a complete inability to fall asleep. Sleeping medications don’t seem to help much — even with a pharmaceutical push, the brain cannot cross the threshold into sleep.
Silvano’s pronouncement turned out to be true; he was soon dead. As writer D.T. Max chronicles in his book The Family That Couldn’t Sleep: A Medical Mystery, subsequent studies of Silvano and his family members revealed crucial similarities to a seemingly unrelated disorder: Creutzfeldt-Jakob Disease. CJD is characterized by memory problems, personality changes and involuntary movements, among other things, and it is eventually fatal. The disease shows up later in life, typically in a person’s 50s or later. It’s caused by a quirk of biology known as a prion, a misfolded protein, and that’s what eventually tipped Silvano’s doctors off to the nature of his family’s curse.
[...] It’s not entirely clear what eventually kills those with FFI. While it’s likely that insomnia plays a large role in the disease’s effects, the prions that accumulate in the brain also lead to other symptoms: sweating, dementia, rapid weight loss and more. It might be that the disease itself is otherwise fatal and the lack of sleep simply hastens its progress. Attempts to find a cure have so far been unsuccessful... (MORE - details)
EXCERPT: . . . Medical reports of the disease [fatal familial insomnia (FFI)] first surfaced in the 1980s, after an Italian man named Silvano presented himself to neurologists with a dire prediction: He was going to die soon, and he knew how it would happen.
It was no hyperbole — Silvano’s two sisters had recently died from a strange disease that robbed them of their ability to sleep. He had just experienced the same symptoms that kicked off his siblings’ spirals into fatal insomnia. The hallmark of FFI is contained in the name. What starts as difficulty sleeping gradually progresses to a complete inability to fall asleep. Sleeping medications don’t seem to help much — even with a pharmaceutical push, the brain cannot cross the threshold into sleep.
Silvano’s pronouncement turned out to be true; he was soon dead. As writer D.T. Max chronicles in his book The Family That Couldn’t Sleep: A Medical Mystery, subsequent studies of Silvano and his family members revealed crucial similarities to a seemingly unrelated disorder: Creutzfeldt-Jakob Disease. CJD is characterized by memory problems, personality changes and involuntary movements, among other things, and it is eventually fatal. The disease shows up later in life, typically in a person’s 50s or later. It’s caused by a quirk of biology known as a prion, a misfolded protein, and that’s what eventually tipped Silvano’s doctors off to the nature of his family’s curse.
[...] It’s not entirely clear what eventually kills those with FFI. While it’s likely that insomnia plays a large role in the disease’s effects, the prions that accumulate in the brain also lead to other symptoms: sweating, dementia, rapid weight loss and more. It might be that the disease itself is otherwise fatal and the lack of sleep simply hastens its progress. Attempts to find a cure have so far been unsuccessful... (MORE - details)
