To Sleep, Perchance to Dream

In A Sleeping Country, main character Julia Fracasi believes she has “the worst insomnia in the world” and questions whether she may suffer from a strange condition possessed by only a handful of families around the world. The play surmises that one family in Venice, Italy, is plagued by a condition that renders them indefinitely sleepless and eventually results in their death. Though it sounds like an illness found only on a daytime soap opera, this condition is a real and documented disease.

The likelihood of developing fatal familial insomnia is around one in 33 million, though in Elisabetta Roiter’s family, the chances are more like one in two. Her great-great-great-grandfather, Giacomo, was born in a small town near Venice, Italy. A strong, powerful and physically impressive man, it was all the more perplexing when, at the age of 45, Giacomo fell mysteriously ill. He began to suffer from dementia and was eventually confined to bed where he lay awake in torment until he died.

Giacomo’s progeny flourished over the next 150 years, with many achievingsuccess in business and other ventures. Concurrent with their track record of success, however, came another less enviable pattern. Many in his family suffered notably early deaths; medical records through the years noted oddities like epilepsy, fever and “nervous gastric fever” and cited the cause of death as meningitis, presenile dementia or leukoencephalitis (an inflammation of the brain). In fact, the cause of death, though misdiagnosed, was always the same: fatal familial insomnia (FFI).

The symptoms of FFI follow a very predictable (and swift) course: patients typically begin suffering from insomnia one day in their early 50s. Once the lack of sleep becomes severe and prolonged, the patient begins to hallucinate and suffers from panic attacks. As the disease progresses deeper, it eventually affects the ability to balance, walk and even speak (though, tragically, the patient’s ability to think usually remains intact). The final stages involve rapid weight loss and dementia. Approximately seven to 18 months from the start, the sufferer lapses into a coma-like state of exhaustion and dies.

For a time, it was believed that, indeed, only Giacomo and his family were afflicted with the disease, but it has since been determined that, internationally, approximately 30 families share the same diagnosis.

After helplessly watching as several of his wife’s relatives suffered death at the hands of the same frustrating sequence of events, Dr. Ignazio Roiter decided to research the disease himself. Personally poring over the autopsies of several of his in-laws and interviewing long-lost family members, he began to piece together proof of a hereditary link between these mysterious deaths.

Through a partnership with Dr. Pierluigi Gambetti at Case Western Reserve University, Dr. Roiter found that the brains of these perpetual insomniacs were full of small holes, resembling a sponge. They looked suspiciously similar to the brains of patients with Creutzfeldt-Jacob, the human form of mad cow
disease, which is caused by a rogue protein in the brain. The disease was eventually formally identified in 1986.

A diagnosis, however, does not connote a cure and, although scientists are actively researching and pursuing a solution to this debilitating disease, a cure is still perhaps 10 to 15 years away, according to researchers. Scientists believe that a cure for fatal familial insomnia could also be the gateway to curing other rogue protein diseases, including Alzheimer’s and Parkinson’s.

Portions of this article were excerpted from The New York Times web site, MSNBC.com and wikipedia.org.