Doctor's Review: Medicine on the Move

December 16, 2017
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Dying for some rest

Fatal insomnia proves that sleep struggles are no snoozing matter

Aside from the proverbial apple a day, eight hours of sleep might be the most clichéd health virtue of them all. Unlike the empty promises of a Granny Smith, however, the benefits of a good night's shut-eye are backed by science. Most of the latest studies confirm that folks who sleep well reap rewards across the physical and mental health spectrum. Unfortunately, a full night's beauty sleep is a lofty goal for most, something overworked Canadian physicians -- and their exhausted patients -- know all too well. Whether you're a 21st-century bean counter or a 15th-century sheepherder, sleep can be an elusive lover.

For as long as patients have been yawning, their weary doctors have tried to help knock them out. The ancient Chinese advised acupuncture (in fact, they still do) and practically every plant and poultice imaginable has been employed in the hopes of providing some relief. Hippo-crates reportedly tackled the problem with valerian, a herb whose mildly sedative effects helped many ancient Greeks catch some zetas. Galen used it in second-century Rome as well. But even sure-fire solutions like opium weren't exactly a practical for everyone. And so, those for whom the Dark Ages weren't quite dark enough were left to toss and turn on their straw beds, wondering whether there was more to life than mere serfdom. By the 19th century, however, a revival of an ancient cure finally offered some reliable, but addictive assistance.

MESOPOTAMIAN MIRACLE
The history of opium could fill a few books, but suffice it to say that more than five millennia ago, the ancient Sumerians -- who were the first to describe it in texts dating to about 3500 BCE -- knew enough about the poppy and its pleasure to call it Hul Gil, loosely translated as "joy plant." Recreational use of opium aside, the sleep deprived finally had an effective way to catch some shut-eye. Ancient Egyptians were known to partake in that special poppy plant as well, as hieroglyphic representations of opium use can attest. From then on, pretty much every civilization from Europe to the Far East made good recreational and medical use of opium, though by the Middle Ages, it was becoming frowned upon in the West due to anti-Eastern sentiment and by the increasingly powerful church. And so, opium was eventually downgraded from celebrated cure-all to soul-damning vice.

Later in the 16th century, opium began to regain its status as the perfect panacea throughout Europe and, increasingly, in Great Britain during the Empire's crazy colonial years. By the 19th century, Britain had emerged as the drug dealer of the world, doing a brisk trade in poppy-related pleasures with little regard for its seedy downsides. Despite all the fuss, opium remained legal, so anyone sleep deprived enough to go to extreme measures had somewhere to turn for relief. Opium addiction reached its zenith during these years and the drug only began to be restricted in 1878 with the Opium Act.

For its part, the scientific community saw the study of sleep as somewhat of a snooze. Nevertheless, a few early milestones paved the way for later research. In 1809, Italian anatomist Luigi Rolando noticed that birds seemed tired and a little unlike themselves after he removed half their brains. Charles Dickens himself emerged as an unlikely medical pioneer when he became the first to describe what we now know as sleep apnea, in his 1837 novel The Pickwick Papers.

By the turn of the century, however, great strides had been made in the understanding of sleep, following many successful studies in neuroanatomy, electrophy-siology, sleep cycles, the mechanisms of sleepiness and wakefulness, chronobiology and even dreams. Once sleep disorders such as apnea, insomnia and narcolepsy began to be described clinically in the ultimate hope of finding cures, an entirely new specialty was born: sleep medicine. The Association for the Psychophysiological Study of Sleep (now known as the Sleep Research Society) was founded in the US in 1961, followed by several other medical organizations throughout the world devoted to research and treatment. The new research shed light on many of the formerly mysterious processes of sleep, and several big drug breakthroughs made insomnia a somewhat easier pill to swallow.

 

WAKING NIGHTMARE
Still, nothing could prepare the somewhat quiet field of sleep medicine for what happened in 1979, when an Italian country doctor discovered a bizarre new disease, one which would fascinate the entire world and give insomniacs everywhere another reason to stay awake at night.

Ignazio Roiter, a physician living in a small town in Northern Italy, was the first to suspect a form of insomnia so serious that it actually lead to death. Fatal familial insomnia, or FFI, is about as rare as a disease can be. The inherited autosomal dominant condition is known to affect about 30 families throughout the entire world (only five in North America), but for those unlucky enough to be part of the club, its rarity is cold comfort.

In 1973, Roiter's wife Elisabetta had an aunt who died of a mystery illness. The middle-aged woman began to experience bouts of confusion, paranoia and apathy. As the months passed, she developed insomnia and soon stopped sleeping completely; at night, she would simply vegetate in a dream-like state. No drugs were effective. Eventually, experiencing near-constant hallucinations, she acted out strange scenarios and dripped with a constant cold sweat. She could no longer walk, wasted away to 65 pounds, and became incontinent and mute. Through it all, she suffered tremendously and her periods of lucidity only compounded the torture. Finally, 12 months later, she died. Diagnoses ranged from Alzheimer's and Parkinson's to insanity and encephalitis. The family, though puzzled, mourned and moved on.

Six years later, however, the woman's sister began to display identical symptoms and within months, died the same excruciating death her sister had. Knowing this was no coincidence, Roiter began researching his wife's family tree. Elisabetta's grandfather Pietro, the town mayor, died of a mysterious encephalitis in 1943. And he wasn't the only one. What Roiter discovered was totally unexpected and completely bizarre.

FRIGHTENING FAMILY TREE
Since Elisabetta's family was quite prominent, church and medical records existed which allowed Roiter to trace his wife's relatives back through many generations. Sure enough, reports of similar deaths abounded, beginning with a man named Giacomo, who died at the age of 45 in a small town near Venice of what was termed dementia in 1836. Since then, Roiter identified 30 of his descendants who suffered the same fate -- premature death, preceded by months of disturbing symptoms and insomnia.

When his wife's Uncle Silvano presented with the same symptoms in 1984, Roiter was discouraged, but prepared. Roiter brought the man to leading Italian sleep experts to no avail. His decline, however, was clinically documented and Silvano agreed, upon his death, that his brain should be examined so that more could be understood about the condition. After Silvano died, Roiter rushed his brain to the US to be studied by a recommended neuropathologist, Pierluigi Gambetti. Gambetti noticed tiny lesions in the thalamus, however, upon closer inspection he saw that the entire brain looked an awful lot like a sponge, full of small holes. He knew he needed an expert opinion.

Uncle Silvano's grey matter -- along with that of another relative who'd succumbed to the disease over the next few years -- was sent to Dr Stanley Pruisner, the renowned American neurologist who would later be awarded the Nobel Prize in Physiology or Medicine in 1997 for his discovery of prions, disease-causing virus-like proteins which incite the brain to basically consume itself. As with the brains of victims of other rare prion diseases -- such as Creutzfeldt-Jakob disease and bovine spongiform encephalopathy (mad cow disease) -- Prusiner noticed the telltale holes. Somehow, prion diseases had made the leap from mad cows to counting sheep, with their rogue infectious proteins causing similar degenerative effects on the nervous system.

Back in Italy, the gene for this disease, by now called fatal familial insomnia, had been identified. After testing, 50 percent of the people in Elisabetta Roiter's family learned they were carriers. There is still no cure for FFI or any prion disease, but unlike most of the others, which are usually transmitted via the ingestion of infected tissue, fatal familial insomnia is inherited.

Fortunately, for most people who struggle with sleeplessness, insomnia is a far cry from the terrifying nightmare it is for several unlucky families around the globe. Stress and bad habits -- not inherited disease -- bear the brunt of the blame for most forms of insomnia. So the next time you're tossing and turning, remember that it could always be worse.

 

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