_How is it possible for someone to live with narcolepsy for years before being diagnosed? And considering all the symptoms that typically interfere with quality of life, how is it possible for a person not to seek a medical evaluation to identify a clear diagnosis? _
I gained some new insights into these questions from a recent interview with Sam E., an amateur race car driver and aspiring musician who has narcolepsy. Narcolepsy is a disease with features that include the inability to stay awake during daytime hours; episodes of cataplexy, where there is sudden weakening of the muscles resulting in symptoms ranging from buckling knees to falling to the floor; sleep paralysis; and hallucinations when falling asleep or waking up.
Sam shared with me that his symptoms started before he entered his teen years. He described being tired in the morning, even after sleep. His parents had a very difficult time getting him out of bed every morning. But many kids don’t want to get up in the morning for school, so this was not a standout symptom.
This is a phenomenon not uncommon in teenagers. Usually there’s a pattern of staying up late the night before, a logical explanation to explain “difficulty waking up in the morning.” Sleep experts identify that situation as due to “delayed sleep schedule syndrome.” But the situation with Sam E. was different. When I asked him what time he usually went to bed as a child and teen, his response was, “Different times with no usual pattern.”
Narcolepsy patients often describe irregular sleep patterns. The period of nighttime sleep is fragmented, though the person may be unaware of this. Sam described a typical night’s sleep as though it “is like connecting your phone to the charger all night, but realizing that you forgot to plug it into the wall. You are never recharged.”
The pattern then continued during his teen years. He did not experience cataplexy or the other symptoms associated with narcolepsy. He was simply "tired all the time.” Unfortunately, this is a complaint from teens that doesn’t attract too much attention. After all, they are busy with after-school activities, studying late into the night, watching TV, using social media, and usually delaying bedtime for as long as possible.
This was not Sam’s story. He managed to get through school daily, but his social activities took a hard hit.
“I made up excuses not to go out with people or do [social] things because I was always tired,” he said.
He got a driver’s license at age 16 and there were no apparent problems with his driving skills.
I asked Sam how hard it was to “get by” in school. He mentioned some of the measures he chose to employ in order to stay awake: “I was the class clown… I was constantly talking and asking questions… anything to stay awake.”
I asked how hard it was studying and passing exams.
“I concentrated on doing everything before the exam,” he said. "I was not good at reading assignments after school. Reading was like being on auto pilot — I would read something and immediately afterwards would have no idea what I just read.”
This complaint is not uncommon in teenagers and frequently leads to a misdiagnosis of attention deficit disorder — which, of course, also means getting the wrong treatment.
It was not until sometime during college, when he realized how his sleep issues and daytime sleepiness were affecting his life, that he was motivated to finally seek evaluation by a sleep specialist. He underwent the Multiple Sleep Latency Test (MSLT), preceded by a sleep study (Polysomnography or PSG), and the diagnosis immediately came to light.
The MSLT consists of five different naps not to exceed 20 minutes during the day after sleeping all night in the sleep lab for at least six hours. The test, which assesses sleep latency measures the time lapse from the beginning of the nap to the time one is actually asleep. “Normal” is when it takes more than 10 minutes, while eight-10 minutes is considered “borderline.” Sam’s average sleep latency result was three minutes, which is considered abnormal, but that finding alone does not confirm the diagnosis of narcolepsy.
In narcolepsy there is the distinct finding of REM periods, called SOREMs, during these naps. It is not normal for REM to occur before a minimum of 89 minutes lapse after the start of sleep. So REM should not be present during short daytime naps. Sam had three naps that included REM periods.
_ Credit: Sam E._
Still, despite the late diagnosis, Sam was fortunate. Many narcoleptics do not have definitive findings with the MSLT, and sometimes it’s necessary to perform a lumbar puncture to measure orexin levels. This is a test where a needle is inserted in the spinal cord and fluid is taken to measure for the hormone orexin. This hormone helps to keep us awake and levels are reduced in narcolepsy.
Sam was also found to have the less common type of narcolepsy. This type does not have periods of cataplexy. The good news is that this type of narcolepsy is very responsive to treatment.
Planning the day carefully, allowing time for short naps during the day, regularizing the bedtime schedule, and watching one’s weight can help with the management of this disease. Another regular habit that can help these individuals stay awake is regular exercise.
It’s also imperative to maintain a relationship with a doctor who specializes in sleep disorders.
There is much to be learned from Sam’s story. He is a young man who went through his youth suffering with a treatable condition that was missed because his symptoms were believed to be typical for a teenager. They were not. Although there are known risks when driving with narcolepsy, Sam is still able to continue driving as a hobby. However, Sam’s diagnosis has opened doors to a new way to keep active: advocacy. The hope is that his story might help others who are dealing with sleep issues get diagnosed much sooner.
If Sam’s story sounds similar to you or someone you know, you may need to see a sleep specialist. Visit Jazz Pharmaceutical’s website MoreThanTired.com to learn more about narcolepsy and find a sleep specialist near you.
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Eli Hendel, M.D. is a board-certified Internist and pulmonary specialist with board certification in Sleep Medicine. He is an Assistant Clinical Professor of Medicine at Keck-University of Southern California School of Medicine, and Qualified Medical Examiner for the State of California Department of Industrial Relations. His areas of expertise in private practice include asthma, COPD, sleep disorders, obstructive sleep apnea, and occupational lung diseases.
Sam E. lives in central Alabama where he works on and drives race cars. Sam is also a musician and performs acoustic southern rock and country music. He is working with Jazz Pharmaceuticals to spread the word about narcolepsy and help people who may be suffering like he was without a diagnosis.