“There were times when he lost the whole day – it takes over your consciousness. “When the symptoms reared themselves, he couldn’t do anything,” says Schenkein. (Daniel’s name has been changed to preserve his family’s privacy.)ĭespite these (relative) successes, Daniel still faced regular relapses that became more intense as the disease progressed. “His profile was very clever – he was a brilliant guy, extremely funny,” she says they ended up having a long-distance friendship. A psychologist at Touro College in New York, Joyce Schenkein first came across Daniel not through her work, but through a radio chat line (a precursor to internet forums in the 1990s). One remarkable patient, however, has hinted that there may be some unusual ways to alleviate the misery. He remembers a woman, Teresa, who would mindlessly mimic the action of combing someone’s hair she had been a hairdresser before the disease struck. Cortelli thinks this is a pale remnant of the REM stage that punctuates the deeper stages of sleep in some ways, it looks like they are acting out dreams. Without those slow waves, the closest they get to normal sleep is a kind of mindless stupor – not quite asleep, but not quite aware, in which they mindlessly mime their routine daily activities. “If the sympathetic nervous system is unbalanced, of course you’ve got insomnia,” says Cortelli, who presented his ideas in a recent issue of Sleep Medicine Reviews. Where blood pressure typically drops before sleep, theirs would be abnormally high, for instance, giving the sensation that their body is still on high alert. This erratic autonomic control could also contribute to the patients’ insomnia: their bodies can’t prepare for a night’s sleep. Hence the profuse sweating and shrunken pupils, the impotence and the constipation. When it breaks down, it is as if your central heating is going haywire, your water pipes have sprung a leak, your windows are wide open and your loudspeakers are blaring at full volume – everything is in chaos. We know, for instance, that this hub orchestrates all our “autonomic” responses to the environment – things like temperature control, blood pressure, heart rate, and the release of hormones to keep the body ticking over comfortably. Normally the size and shape of a walnut, the thalamus in Silvano’s brain appeared to have been riddled with boring worms.Īfter years of further research, the scientists can now explain why damage to this small nub of neural tissue unleashes such a puzzling constellation of symptoms. But whereas CJD leaves the surface of the brain looking like Swiss cheese, Silvano’s condition seems to target parts of the thalamus, at the very centre of the skull. This made it a relative of Creutzfeldt–Jakob disease (CJD) and Mad Cow Disease – two other prion diseases that were garnering serious scientific interest at the time. His niece had married a doctor named Ignazio Roiter, and as a man of science, he persuaded his wife’s uncle to visit Elio Lugaresi’s famous sleep clinic at the University of Bologna, where Cortelli was working. Soon after, a nephew named Giuseppe succumbed to a similar fate, and from there, the illness passed through his sons Angelo and Vincenzo to their children and great grandchildren, until it reached Silvano’s father Pietro, who died during World War Two.ĭespite this chain of losses, the family tried not to talk about the illness for fear of tempting fate, but that changed in the 1980s when Silvano started developing his symptoms. Hunting for “patient zero”, Max found the disease could be traced as far back as a Venetian doctor who fell into a continuous, paralysed torpor during the late 18th Century. Silvano’s family have mostly remained silent about their struggle with FFI, but about 15 years ago they opened up about their history to the writer DT Max, whose book The Family Who Couldn’t Sleep offers an engrossing portrait of a family living in fear of their own genes. However, since “Fatal Familial Insomnia” (FFI) involves a genetic legacy that is passed through generations, this research is also raising a difficult and ethically fraught question: if your family’s genes meant you could one day be struck down by the inability to sleep, would you want to be told your fate? What’s going on inside the brains and bodies of people with this strange disease? It’s a mystery that researchers are only now starting to fully understand, and possibly treat with a promising new drug.
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