Julie Flygare was 21 when the symptoms started. First her knees would buckle briefly, but only when she laughed. She awoke one night to the sight of a burglar attacking her, while she lay paralyzed and terrified—then realized later there was no burglar and no attack. As a law student the next year, she would read her textbooks diligently for hours, then couldn’t recall what she had read. She got so tired on a 15-minute drive to law school one morning that she couldn’t remember arriving.
Her bizarre symptoms mystified her, and multiple doctors were also perplexed. Finally, a sleep specialist sent her for a sleep study. She was diagnosed with narcolepsy, a rare neurological disorder that causes excessive daytime sleepiness, brief episodes of muscle weakness, and dream-like experiences.
The diagnosis helped, but she still had to deal with its fallout. “I would say to people, ‘Oh, I have narcolepsy,’” Flygare says. “They’d be like, ‘Oh, you’re gonna fall asleep right now?’ They just tried to make a joke right away.”
Flygare stopped telling people because she didn’t like their reactions. “And then I felt just so alone. That was really rock bottom for me,” she says.
The experience prompted Flygare to write a memoir: Wide Awake and Dreaming: A Memoir of Narcolepsy. She went on to found a sleep advocacy group called Project Sleep, which is devoted to raising awareness about sleep health, sleep equity and sleep disorders. To further raise awareness and reduce stigma, in 2019 she worked with narcolepsy advocacy organizations around the world to help establish September 22 as World Narcolepsy Day.
In the Sleep Lab
Narcolepsy, which affects an estimated four million people worldwide, affects the brain’s ability to regulate the sleep-wake cycle. This causes episodes of excessive daytime sleepiness, which can occur at any time and significantly impact daily life.
Diagnosing narcolepsy remains something of an art and can take up to a decade or more, says Andrew Spector, a neurologist and sleep medicine specialist at Duke University.
The symptoms are nonspecific and can be mistaken for other conditions such as depression, epilepsy or other sleep disorders, and current clinical tests “are limited at confirming narcolepsy,” Spector says. “So even patients who don’t test positive for narcolepsy may still have it.”
Narcolepsy is usually diagnosed in a sleep lab. “We start with an overnight sleep study, mainly to ensure there aren’t any other sleep disorders like sleep apnea that are leading a patient to be really sleepy during the day,” Spector says. Then comes the daytime nap test. People with narcolepsy fall asleep in under eight minutes, on average, across five naps, while those without it fall asleep in anywhere from 10 to 20 minutes.
Clinicians also measure whether the person enters rapid eye movement (REM) sleep. “People without narcolepsy tend not to go into REM sleep within 15 minutes,” Spector explains. “But a hallmark of narcolepsy is that when you fall asleep, you go right into REM sleep.” Individuals who go into REM sleep during two or more of five naps—in addition to having met the criterion of falling asleep in under eight minutes across the naps—get a narcolepsy diagnosis.
Doctors can also confirm the diagnosis by testing spinal fluid for orexin (also known as hypocretin), a neurotransmitter in the brain that regulates wakefulness and sleep. “If you have low levels of orexin in your spinal fluid, the odds of narcolepsy are very high,” but normal levels don’t rule it out, Spector says.
As a result, he says, recognizing symptoms is what’s most important for diagnosis. Nevertheless, many patients misinterpret them for years.
Diagnosis Delays
Professional football player Josh Andrews was just 12 when he noticed he had an unusual trait—a tendency to fall asleep anywhere and everywhere. He’d fall asleep while playing video games and in the car while riding with other members of his school’s basketball team from tournament to tournament. He would “be passed out in the car,” even if he’d “woken up from a good night’s sleep,” he recalls.
Later, he noticed he would start to doze off while speaking, slurring his words mid-conversation. And when he was 18, Andrews rammed his car into the back of another vehicle after falling asleep at the wheel.
Finally, years later, after getting into another car accident, Andrews decided to seek help. “I realized I was endangering other people at that point,” Andrews says. “It pushed me to find a diagnosis for what was going on.”
Doctors diagnosed him with narcolepsy and began to help him manage it. He ultimately made it to the NFL, playing offensive line for the Philadelphia Eagles, Indianapolis Colts and New York Jets. But he wishes he had sought a diagnosis years earlier. Now he’s raising awareness about narcolepsy as a spokesperson for Flygare’s advocacy group, Project Sleep, and a program called Progress at the Heart run by the pharmaceutical company Harmony Biosciences that addresses disparities and inequities in rare neurological diseases.
Building Equity, Building Awareness
While narcolepsy remains underdiagnosed for everyone, it may go undetected more often in minority populations, including African Americans, who often receive suboptimal care and are less likely to have adequate access to health care at all, Spector says. To promote equitable care, Spector and his team developed the “Racial Disparities in Neurology Scorecard,” with funding from Progress at the Heart. The scorecard tracks clinical decision-making to help ensure all patients are offered the best available treatments for their conditions.
As diagnosis improves, efforts to draw attention to narcolepsy are also having an impact, Flygare says. “What gets me so much is when someone posts on social media saying, ‘I wouldn’t have shared this, but because it’s World Narcolepsy Day, I’m going to share that I’m a person living with this condition.’” Increasing awareness about the disorder, she hopes, will encourage more people with narcolepsy to speak out and seek the care they need.
Learn more about narcolepsy at project-sleep.org. Explore more about Harmony Biosciences at harmonybiosciences.com.
