Imagine
what a nightmare it would be to never have a nightmare, to never again
have a dream, to be banished forever from the topsy-turvy realm of
sleep. Just imagine what it would be like one day to wake up and never
fall asleep again, to be tortured in a twilight world of perpetual
insomnia, lying in bed, exhausted but with eyes wide open, listening to
the groans and whispers of the night -- sleepless, until death
mercifully claims you.
It's
not a lost Gothic chiller from Edgar Allen Poe but a very real, and
very rare, disease called "fatal insomnia." We might have never heard
of it without the medical detective work of an Italian family, which,
it turns out, was stalked for centuries by a terrifying fate.
As
clinical tapes show, insomnia has become an all-too waking reality for
this family. But as difficult as their experience has been, it has
pushed the outer boundaries of what we know about sleep and expanded
our understanding of human disease itself. This family's illness might
lead to breakthroughs in curing diseases like Alzheimer's and
Parkinson's.
Dr. Ignazio
Roiter: “The first person to fall ill was my wife's aunt.
They said she was depressed.”
Dr.
Ignazio Roiter is a country doctor. His wife, Elisabetta, is a
descendant of a prominent Italian family with roots in Venice since the
1600s. Roiter's medical training hadn't prepared him for the sad and
puzzling ailment that was suddenly overtaking Elizabetta's aunt, a
woman in her 40s.
Dr. Roiter:
“She appeared to be sleeping all the time, but then she claimed she had
insomnia. The doctors were confused.”
Sleeping
pills were useless. The two could only watch in horror as the aunt's
health deteriorated. After a few months she could no longer walk, even
speaking was an effort.
Dr. Roiter:
“The disease progresses very rapidly. Death comes suddenly.”
The
aunt was dead one year after the onset of her mysterious sleepless
condition. Then a year later, in 1979, it struck again. A second aunt
became suddenly sleepless.
Elisabetta:
“The symptoms were the same. Exactly the same.”
Dennis Murphy:
“This has to be terrifying.”
Elisabetta:
“It was shocking at first.”
The mind of both women
remained crisp as their bodies failed them.
Dr. Roiter:
“That's the worst aspect of the disease.”
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INTERACTIVE
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The
second aunt died in 1979, a year after the first. What had struck them
down? The medical experts were perplexed, but Elisabetta's mother
remembered vaguely seeing the dreadful symptoms before. It happened to
Elizabetta's grandfather in 1944. He too had been cursed by the waking
nightmare, sleepless, then quickly dead.
Elisabetta:
“We started to understand that there was a hereditary disease in our
family.”
Dr.
Roiter, desperate to find a diagnosis and a cure, turned to the dusty
record books of the local church where the births and deaths in
Elizabetta's family had been dutifully recorded down through cobwebbed
generations. He was like a cop working a cold case back through time.
And he was finding clues, causes of death listed as "epilepsy,"
"fever," and "mental illness". A vague pattern was emerging.
Gradually,
he built a family tree and encountered long-lost family members who
told him that yes, they remembered relatives dying of the nameless
affliction. But Dr. Roiter needed stronger clinical evidence of a
family link. His search brought him here to an island off Venice, San
Servolo, the site of Europe's first mental asylum. Some of his wife's
ancestors had been warehoused here, and like hundreds of other
patients, observed and catalogued. He found ancestors' medical records,
and compelling evidence.
Murphy:
“Confusion, apathy. So this is years before the diagnosis, but doctors
are observing these same traits.”
Dr. Roiter:
“Yes.”
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There
it was in the yellowed records. Elizabetta's ancestors had been dying
of sleeplessness for centuries. Now Dr. Roiter had to convince the
medical establishment that he had stumbled across a new, family-borne
disease -- his own family's disease. But before his investigation could
continue, its urgency was made apparent when Elisabetta's Uncle Silvano
came for a visit
Dr. Roiter:
“He seemed depressed, anxious. His behavior changed, his character
changed.”
Elisabetta's uncle agreed to
be examined. He was determined to help them find a cure
Elisabetta:
“He said, do it quickly. He knew he was going to die within a short
time.”
Dr. Roiter:
“I wanted to save him.”
Dr. Roiter contacted Dr.
Elio Lugaresi, a world-renowned sleep expert, in Bologna, Italy.
Dr. Elio Lugaresi:
“I realized immediately that this might be an important case.”
Uncle Silvano was admitted
to the clinic in the spring of 1984.
Dr. Lugaresi:
“I'd studied sleep for more than 30 years and I'd never seen anything
like it!”
Over several months Dr.
Lugaresi videotaped Uncle Silvano's decline.
Tapes
recorded his semi-awake state. His eyes rarely stay closed. Then after
6 months, he begins miming in his half-dreams - combing his hair,
buttoning his shirt. Though he may look conscious, he isn't. He's lost
in a passageway between sleep and the wakeful world. In time, he finds
it difficult to walk. Insomnia caused his body to shut down and he
died, exhausted, at 52.
His brain was removed, sped
through customs and rushed to a specialist in America.
Dr. Pierluigi
Gambetti: “If we had lost that brain, we would have lost
the key to the understanding of the disease.”
The
brain was delivered intact to Dr. Pierluigi Gambetti, a
neuropathologist at Case Western Reserve University in Cleveland. He
studied it and found that it was full of small holes - like a sponge.
It looked suspiciously similar to the brain of patients with
Creutzfeldt-Jacob, the human form of mad cow disease.
Dr. Gambetti:
“It gave us really a direction we're to move to try to identify the
type of disease we are dealing with.”
The doctor in Cleveland
contacted a scientist in Los Angeles who'd done ground-breaking work on
the transmission of disease.
Dr.
Stanley Pruisner, the California scientist, believed that some diseases
are caused by proteins in our brains. Abnormal proteins can hijack
healthy proteins that in turn declare war on other proteins in the
brain – a whole new system of infection that leads to death. But it was
just an unproven theory.
Labwork on Uncle
Silvano's brain turned out to be the key that researchers had been
looking for, their proof. Uncle Silvano, indeed all of Elizabetta's
sleepless relatives and ancestors, had died of a hereditary disease
caused by rogue protein disorder in the brain.
In
1997 Dr. Prusiner was awarded the Nobel Prize in medicine for his
discovery of rogue protein disorders. His discovery was partly the
result of an Italian country doctor's crusade to cure his family
But
diagnosing the disease wasn't curing it. As Dr. Gambetti in Cleveland
continued his research into fatal familial insomnia, he actually
located the genetic mutation in Elizabetta's line that causes the
disease. He tested 50 members of the Italian family and found that 50
percent of them were carriers. Carrying the mutated gene doesn't mean
that it will bloom into the fatal insomnia but if it does, no cure is
known.
Now those onetime long-list
family
members reunited by Dr. Roiter's medical detective work face an awful
dilemma. They've seen fathers disintegrate before their eyes, and their
loved ones turned into sleepless zombies.
Elizabetta's distant cousin
Lucia has lost her father, an uncle and a sister to the disease.
Murphy:
“Lucia, the doctors would be able to say with some precision whether or
not you or your family member have it or don't have it. It's an awful
decision. Would you want to know, or not know?”
Lucia:
”No, I wouldn’t want to know it. My aim in life is to find a cure, fund
research.”
Some
scientists predict a cure will be found within the next 10 or 15 years.
And scientists believe that a cure for fatal familial insomnia, rare as
it is, may open the door to cures for other rogue protein diseases, and
similar maladies like Alzheimer's and Parkinson's.
Lucia:
“My strength comes from the people who've died. Wherever they are now,
they help me along this road, which won't cure them anymore, but will
help people in the future. We've lost some battles, but I haven't lost
the war.”
It’s a war for a cure that
would allow this family and others always to be able to sleep,
perchance to dream. Perchance to live.
In
recent years, 27 other families around the world have been found to be
carriers of fatal familial insomnia, five of those in the United
States. The Roiters’ extended family has formed an association to help
find a cure, and raise the money for research.
©
2005 MSNBC Interactive
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