Source: BBC
Silvano was on a cruise ship when the family curse struck. An elegant 53-year-old with striking red hair who enjoyed wearing a tuxedo at every possible occasion, he tried to present himself with the poise of the film stars he admired. But while on the ship’s dance floor one evening, he was embarrassed to find that his shirt had become drenched in sweat.
Concerned, he examined himself in a mirror, only to find that his pupils had shrunk to two tiny black pinpricks. It was the same glassy-eyed stare that had afflicted his father and two sisters at the beginning of their mysterious illnesses.
He knew this was just the beginning. Tremors, impotence and constipation could follow. But the most terrifying symptom would be the disappearance of sleep – almost total insomnia for months; a kind of waking coma that ultimately would end in death.
He said, ‘I’ll stop sleeping, and within eight or nine months, I’ll be dead
Silvano eventually referred himself to the University of Bologna’s sleep unit for further study, but he was under no illusions about the course of the disease. “He said, ‘I’ll stop sleeping, and within eight or nine months, I’ll be dead,’” one of his doctors, Pietro Cortelli, told me in a phone interview.
“I said ‘how can you be sure?’ He then drew me his genealogical tree from the 18th Century, all by heart.” In each generation, Silvano could name family members who had succumbed to the same fate.
As Silvano had predicted, he died less than a couple of years later, but he left his brain to science in the hope that it might shed some light on the strange disorder that had plagued his family.
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. 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?
Patient zero
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. 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. 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.
Despite 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. 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.
The Venetian family live in fear of “una notte in bianco” – a sleepless night that might signal the start of their decline (Credit: MahPadilha/Flickr/CC BY 2.0)
Together, they set about solving the mystery of the illness. Although their efforts could do nothing to save Silvano or two other family members who would succumb shortly afterwards, extensive testing eventually found the culprit: a misshapen protein in the brain called a prion, caused by a tiny genetic mutation. For some reason it is only at middle age that the prions begin to proliferate wildly, collecting in pockets that poison the neurons.
Categories: Biology, The Muslim Times