Wake-up Call
Until they see a specialist, people with daytime sleepiness may not know they suffer from narcolepsy.
  
Somehow, Sarah Zeff got through college and even got into the ultra-prestigious Harvard Medical School. This despite frequent attacks of an overwhelming sleepiness that came upon her "every time I sat down to read or study,'' says Zeff, 27, who lives in Jamaica Plain. Zeff was baffled. All she could do was take lots of naps, keep up on her nighttime sleep, and continue to exercise, and always try to be doing something active - taking notes, underlining, making study sheets - while reading.

Through these tactics and sheer force of will, Zeff did well enough to survive at Harvard but continued to suffer daytime sleepiness (not fatigue or physical tiredness) that hampered learning. She says she also experienced weird dreams or hallucinations while going to sleep or waking up.

"One time, my bed and my whole room turned into a scene like Alice in Wonderland," she remembers. "My comforter looked like mountains and meadows, and my alarm clock had hair on it."

It turned out that Zeff has narcolepsy, a neurological disorder that's often not recognized until the person is seen by a specialist in sleep disorders. Often, years go by while the patient fights sleepiness and admonishes him- or herself for just being lazy. Fortunately, when Zeff sought help at Harvard Student Health Service, she was referred to Dr. John Winkelman, medical director of the Sleep HealthCenter® affiliated with Brigham and Women's Hospital.)

Unless doctors are knowledgeable about narcolepsy, they may initially suspect that an excessively sleepy patient has a psychiatric problem, like depression, or is suffering from sleep apnea. People with sleep apnea are drowsy in the daytime, because their nighttime sleep is disturbed repeatedly when their breathing stops intermittently.

Those two problems were ruled out in Zeff's case. Winkelman also had her take the most definitive test for narcolepsy, called the Multiple Sleep Latency Test. The patient stays overnight in a sleep laboratory, then the next day has five opportunities to nap. The faster the patient dozes off, the more likely it is that narcolepsy is the cause.

"Less than five minutes" signals the patient "is pathologically sleepy," says Winkelman. The sleep experts also measure how quickly the patient goes into REM sleep: That's the phase when characteristic rapid eye movements occur and dreaming is frequent. Normally that phase doesn't begin for an hour or two after someone falls asleep, but people with narcolepsy often go directly into REM sleep, even during a daytime nap.

Intrusion of REM sleep into wakefulness also causes two other bizarre symptoms that some, but not all, people with narcolepsy report. One is "hypnagogic" hallucinations - dreamlike episodes similar to Zeff's - while going to sleep or waking up.

David Pond, a 62-year-old narcolepsy sufferer from Atkinson, New Hampshire, says that one time he imagined he was sitting at his desk when a woman in a brown dress appeared, and her white dog jumped up on his desk.

Pond and Zeff also share a classic narcolepsy symptom, cataplexy - muscular weakness during moments of sudden, strong emotion, whether sadness, fear, or joy. Narcoleptics may fall to the floor when this happens, and others think they have fainted. Some narcoleptics also experience sleep paralysis, a frightening symptom in which the person briefly can't move while falling asleep or waking up.

There's no known cause of narcolepsy, though a family history increases the risk in close relatives, and a mutant gene has been found in dogs. About one in 2,000 people is believed to have it. In just the past few months, breakthroughs in understanding the disorder have shown that a previously unknown brain chemical, called orexin, or hypocretin, is not working normally in a part of the brain called the hypothalamus, which regulates basic body functions.

Coping with narcolepsy calls for a blend of lifestyle strategies and medication to combat both the sleepiness and the hypnagogic hallucinations, if they are a problem.

Planning naps during the day, particularly after meals, when sleep craving is highest, can help manage the disorder. Avoiding heavy meals before important activities may ease the sleepiness.

Stimulant drugs are the mainstay of treatment for people who have more than mild narcolepsy, says Winkelman of Beth Israel Deaconess. The mainstay of stimulants treatment has been Ritalin, the same drug that calms hyperactive children. In adults, Ritalin increases alertness.

But Ritalin's side effects include nervousness and headaches, and its sleep-countering effect lasts for only a few hours.

Newly on the market and relatively free of side effects, a drug called Provigil is becoming the first-line treatment for narcolepsy, says Winkelman. It is longer-acting, has fewer side effects, and is less likely to make the patient feel edgy than Ritalin, Winkelman says.

Narcolepsy sufferers generally don't find their sleepiness disappearing but often see vast improvement. "I can't begin to tell you how much this [treatment] has changed my life," says Zeff, the medical student. "I was always in awe of other students" who seemed so intelligent when they recalled material from textbooks or lectures.

After being diagnosed and treated, says Zeff, "I realized that they're not all that much smarter than me - they're just staying awake during the lectures!"

RICHARD SALTUS, GLOBE STAFF
THE BOSTON GLOBE MAGAZINE
Sunday, January 21, 2001