Narcolepsy: When You Just Can't Keep Your Eyes Open
Sally had dealt with "laziness," "lack of motivation," and daily fatigue for most of her 39 years. She had struggled through high school, dropped out of college, and drifted from job to job. Sleep attacks and occasional daytime hallucinations made it difficult for her to concentrate at school or work, and she often made a poor impression on teachers or supervisors.
Sally's parents had tried using reward and punishment to motivate her, and her husband and friends often gave her well-meaning ultimatums. Her repeated failures became a source of disappointment, depression, and anxiety that were not lessened even when a diagnosis—narcolepsy—was finally made.
Narcolepsy, according to its Greek roots, means a "sleep attack." But this little-known and little-understood disease is much more than a longing for a nap after Thanksgiving dinner or nodding off during a boring lecture. Narcolepsy is a neurological disorder with distinct symptoms that are often misdiagnosed.
In its most extreme form, the disease affects one of every 2,000 people, making it about as common as multiple sclerosis and more common than lupus. But narcolepsy has much less name recognition, even among doctors. And doctors who do recognize and understand the symptoms of narcolepsy often have little treatment for their patients.
But new drugs are making life easier for sufferers. And narcolepsy research is promising. Scientists are unlocking more and more of narcolepsy's secrets and may eventually find clues to the age-old mystery of why we spend so much of our time asleep, as well as the importance of that sleep.
The Symptoms of Narcolepsy
Narcolepsy can emerge at any age, although it usually begins in young people in the pre-teen years to the twenties, and rarely appears after age 40. The condition doesn't progress or degenerate, although the cumulative effect of its symptoms can make life more difficult as years go by.
The most common symptom is excessive daytime sleepiness (EDS). These are the characteristic "sleep attacks" of narcolepsy. EDS attacks can range from a continual feeling of extreme drowsiness to an abrupt dropping off to sleep. Sleep attacks can happen without warning, at any time of day. They can make life dangerous or at least awkward because they strike during any type of activity, including eating, talking, or driving. Because narcolepsy has led to many fatal accidents, people with the disease often lose their driving privileges.
Because it is unique to narcolepsy, the hallmark symptom is cataplexy, a momentary loss of muscle control that ranges from feelings of muscle weakness to feelings of paralysis. A cataplectic attack usually occurs during times of stress, but may also strike after an emotional outburst such as laughter, sadness, fear, anticipation, excitement, surprise, or anger. A joke or moment of frustration with a young child can send a person with narcolepsy into cataplexy.
One boy, for example, in the excitement of playing baseball, would involuntarily drop his bat before he could hit a pitch. These attacks can last 30 seconds or 30 minutes, according to the National Institute of Neurological Disorders and Stroke.
But not all people with narcolepsy suffer from cataplexy. If you count those who experience only EDS, the incidence of the disease increases to 1 in 1,000 people according to the Narcolepsy Network, an organization that encourages research and advocates for people with narcolepsy.
Hypnagogic hallucinations, which are related to how people with narcolepsy sleep, are another symptom of narcolepsy. In normal sleep, a person enters about 90 minutes of a slow sleep, when brain activity is minimal and the body is relaxed. After about 90 minutes, rapid eye movement (REM) sleep and dreaming begin.
During REM sleep, the brain becomes very busy with dreams. In narcolepsy, a person falls directly into REM sleep without the preceding slow wave sleep period. In some cases, REM sleep begins before a person with narcolepsy has fully fallen asleep, turning the vivid dreams of REM sleep into frightening hallucinations.
Finally, people with narcolepsy also often experience sleep paralysis, a temporary inability to move. This is caused by the wake-up of the body lagging behind the wake-up of the brain.
Diagnosis: Often Missed
Narcolepsy has distinct symptoms. A diagnosis can be made quite easily in a sleep laboratory by measuring the timing and characteristics of sleep patterns. Unfortunately, though, many people who suffer from it can go years without a diagnosis. In fact, narcolepsy is rarely diagnosed in its early stages. The time lapses that follow can make it impossible for people to reach their potential.
"This disorder can be devastating to people, especially in later life," says Howard Wolfe, past executive director of the Narcolepsy Network. "Even though people are born with narcolepsy, it's usually not diagnosed until after many years after it appears. So for years it's: 'Wake up, sleepy head.' People begin to think they're not smart or attentive. It's a self-fulfilling prophecy."
Because treatments are not ideal, problems may continue even after diagnosis. Wolfe adds, "Lack of self-esteem is often a problem by the time narcolepsy is diagnosed. And even with medication and treatment, people may lose their driving license or have trouble keeping a job."
Narcolepsy is a neurological disorder with a physical cause, but because the cause remains a mystery, treatments are limited to dealing with symptoms. The limbic system in the brain, which controls autonomic systems and emotions, is involved somehow. A genetic component has been found and is being pursued.
Patients can resort to stimulants like amphetamines to keep them awake during the day, while tricyclic antidepressants appear to ease attacks of cataplexy. These treatments—especially amphetamines—are problematic. They weren't developed for narcolepsy, are often needed in high doses, can be addictive, and aren't always effective.
Better drugs that treat only the symptoms of narcolepsy are now available in the US. One, modafinil (Provigil) has fewer side effects than amphetamines and works much better at preventing EDS.
Another medication, called gamma hydroxybutyrate (GHB [Xyrem]) is also used to treat the condition. GHB deepens sleep and has been shown to prevent many of the daytime problems associated with narcolepsy. But there are safety issues with this medication. GHB has a history of being used as a "date rape" drug. It has also been abused by athletes who believe it enhances body building. The Food and Drug Administration has tight restrictions on GHB.
Some people with narcolepsy find some success with "nap therapy." For them, short naps during the day can head off sleep attacks. But research has found that this approach helps only a few people and can make everyday life difficult. Although the Americans With Disabilities Act covers people with narcolepsy, taking naps can cause resentment among coworkers, for example.
By far, the most promising leads for understanding narcolepsy are in genetic research looking at the factors which predispose people to narcolepsy. A team led by Emmanuel Mignot, MD, PhD, a professor at Stanford Medical School and Director of the Stanford Center for Narcolepsy, has been instrumental in this field. "These poor people often just drag on and on. Nobody really understands how real and how difficult this problem says," Mignot says. "This is an important clinical problem. If we could find out what it is, we can help them. And we could find something totally new about sleep itself."
Currently, it is thought that an autoimmune process—where the body’s immune system attacks a portion of the nervous system—is responsible for narcolepsy. It is felt that certain people are predisposed for developing this. The autoimmune attack may be against cells in the brain which secrete orexin/hypocretin, a molecule important in regulating the sleep cycle.
Scientists are investigating possible treatments for the underlying cause of narcolepsy.
National Institue of Neurological Disorders and Stroke
Better Sleep Council Canada
The Canadian Sleep Society (CSS)
Dauvilliers Y, Arnulf I, Mignot E. Narcolepsy with cataplexy. Lancet. 2007;369:1080-1081.
NINDS narcolepsy information page. National Institue of Neurological Disorders and Stroke website. Available at: http://www.ninds.nih.gov/disorders/narcolepsy/narcolepsy.htm#Is_there_any_treatment. Updated June 2008. Accessed July 28, 2008.
Overeem S, Black JL, Lammers GJ. Narcolepsy: immunological aspects. Sleep Med. 2008;12:95-107. [Review]
Last reviewed June 2008 by Rimas Lukas, MD
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