![]() Vallabh has had first-hand experience with the disease, she watched her mother die, aged 52, from FFI in 2010. ![]() “It’s an unbelievably swift and brutal way to die,” one US woman Sonia Vallabh told The Atlantic. But without a cure, many others prefer to continue their lives without finding out. Now that genetic testing is available, some want to know if they carry the gene. Those who find that FFI runs in the family can react in many different ways. Towards the end she was almost mute, lost in a twilight world. Hallucinations begin and there were frequent periods of what appeared to be unconsciousness when she could not be woken up.Įventually she developed pinpoint pupils, the same condition that signalled Silvano’s fate, and was unable to walk. She first sought treatment in 1993 for “tiredness, lethargy and particularly severe insomnia” and her family noticed she had problems with her memory and was disorientated. The case study of one Australian woman who developed the disease when she was 60 years old follows a familiar pattern. However, many cases remain undiagnosed or are not reported. There have been four cases of fatal familial insomnia in Australia.Ī total of 66 cases were reported worldwide, including 25 in Spain, 17 in Germany, 10 in Italy, six in France, three in Austria and one in the UK. Between 19, there were four cases of fatal familial insomnia recorded, according to the Creutzfeldt-Jakob disease International Surveillance Network survey. Prions are also thought to cause mad cow disease and Creutzfeldt-Jakob disease.Īustralia is no stranger to the disease. He received the Nobel prize in 1997 for his work. It wasn’t until Professor Stanley B Prusiner examined the brains of Silvano and one of his other family members that he confirmed the existence of prions, deviant proteins that cause the brain to deteriorate. The history of FFI in Silvano’s family has been traced back as far as 1836.īack then his relatives were often described as succumbing to conditions like epilepsy, fever, meningitis, resenile dementia or alcoholic encephalopathy. If one parent has the FFI gene, the offspring have a 50 per cent chance of inheriting it and developing the disease, with FFI limited to about 40 families worldwide.īecause the disease is generally passed down through families, clusters of FFI have developed in some countries like the small town near Venice, Italy, where Silvano’s family originated from.Īs the disease usually strikes between the ages of 40 and 60, after the child-bearing years, parents used to pass the gene on to their children without realising it. Unfortunately for those who have fatal familial insomnia, they can pass it on to their children. Silvano died from a condition so rare only about 60 cases have been detected worldwide since 1986. While doctors at the time did not know what had caused his death, Silvano’s brain, which he donated to research, eventually helped provide the answer. In the final days of Silvano’s life he lay in a “twitchy, exhausted nothingness”. Silvano’s condition was unable to be treated by drugs and towards the end there were “howls in the night, his arms and legs wrapped around themselves”. At one point he “salutes as if he were part of the changing of the guard at Buckingham Palace”. Like others with his condition, Silvano suffered from hallucinations. “There are tapes of him at night, carefully combing his hair in a hallucinatory stupor, thinking he is getting ready for a party,” DT Max described. His decline made for uncomfortable viewing, as one New York Times journalist noted after watching tapes made of Silvano at the clinic of sleep disorders expert Professor Elio Lugaresi in 1984. Silvano’s prediction came pretty close the 53-year-old died just over a year after his symptoms began. “He said, ‘I’ll stop sleeping, and within eight or nine months, I’ll be dead,” Pietro Cortelli told the BBC. One doctor recalled that Silvano was quite aware of his fate. The remaining months of their lives would become a nightmarish existence as they became exhausted from insomnia and drifted into a mindless daze in which they were not quite asleep but not always conscious either. In Silvano’s family there was a mysterious curse that seemed to strike down relatives in middle age starting with a similar pattern of symptoms that often included excessive sweating, impotence and constipation. WHEN Silvano looked at himself in the mirror and saw that his pupils had shrunk to tiny pinpricks, he knew he’d likely be dead within a year.
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