A Narcolepsy Diagnosis Brings Hope and Challenges
Reviewed by Neha Pathak, MD on September 11, 2020
A Lack of Understanding
Most people with narcolepsy aren’t diagnosed until years after they’ve started having symptoms, which typically develop during childhood or young adulthood. There just isn’t a lot of public knowledge about the disorder. When you say narcolepsy, most people just think of someone falling asleep behind the wheel. In reality, there are all kinds of other symptoms, like having really vivid dreams the minute you fall asleep, or experiencing sleep paralysis, which is when your body still feels paralyzed after you wake up. On top of that, narcolepsy is fairly rare, and many general practitioners aren’t familiar with the symptoms. People tell me that their doctors and others in their lives thought their problems were the result of stress, depression, poor sleep habits, or even chronic fatigue syndrome.
It can be heartbreaking to hear people’s stories when they first come to see me. Lots of people with narcolepsy are bullied, especially during childhood. If you have type 1 narcolepsy, one of your symptoms is cataplexy, a sudden muscle weakness or paralysis. So for example, your tongue may stick out or your head may droop, and others may make fun of that. Type 2 narcolepsy, which means you have all the narcolepsy symptoms except cataplexy, is also hard. You still may be falling asleep in the middle of class or work and feel exhausted all the time.People often fail to get ahead because others think they’re lazy or unmotivated, which couldn’t be further from the truth. One man even told me his boss accused him of constantly being hungover! Another woman who’d been hiding her symptoms from others for years said that she knew how to get by. I was so happy to be able to tell her that she could do better than get by. With treatment, she was able to fully enjoy her life. It’s no surprise that narcolepsy is linked to increased levels of depression and social isolation. Other people don’t understand it — and until they’re diagnosed, a lot of time the people with narcolepsy don’t, either.
Diagnosis Brings Hope
To diagnose someone with narcolepsy, I take a careful health history of their symptoms. Then we do an overnight sleep study to rule out other causes, like sleep apnea. Once we do that, we do another daytime sleep study to test how sleepy they are during the day, how quickly they fall asleep, and if they’re falling into REM sleep. That’s the kind when you’re dreaming, and you don’t move at all. It’s a normal part of the sleep cycle, but if you fall into it right away and your sleep is really fragmented, that’s a sign of narcolepsy.
EMSELLEM: There's been toomuch of narcolepsy being usedas the part of a joke.People think that sleepy peoplehave been having waytoo much fun sleeping before,or that they're too lazy to stayengaged.
SPEAKER: Narcolepsy is actuallyan ongoing condition thataffects the part of your brainthat helps you stay awake.
EMSELLEM: When we wake upin the morning,it's because the central regionsof our brainhave fulfilled the needfor sleep and are now signalingwakefulness.
SPEAKER: Neuronsin the hypothalamus releaseorexin.A brain chemical that helpskeep us alert and prevents REMsleep from happeningat the wrong time.The neurons playan essential role in keeping youawake.Unusually low levels of orexinkeeps your brain from processingthese wake signals.So you end up feeling sleepyall day.
EMSELLEM: In narcolepsy, we seeREM spillinto the daytime unprovoked,but we don't want it there.And in rapid eye movement sleep,we are paralyzed.
SPEAKER: This can causephysical weakness and dreamlikehallucinations.The brain literally dreams whileawake.
EMSELLEM: A patientwith narcolepsy may not wake upcleanly.Their brains may awaken,but they may have episodesof sleep paralysis, where theyare awake, but can't move yet.
SPEAKER: Patients alsoexperience weird dreamsduring the day while awake,in the form of hallucinations.There are two typesof narcolepsy.Type 1 narcolepsy can causeexcessive sleepinessand a sudden loss of musclecontrol called cataplexy.
EMSELLEM: Cataplexy is usuallytriggeredby a significant emotionalshift.They are usually awake and canhear what's going on.
SPEAKER: Type 2 narcolepsyon the other hand, is mainlycategorized by fatigue,but normal levels of orexin.People strugglingwith narcolepsy oftenstruggle against public stigma.
EMSELLEM: And there is sometimesan avoidanceof social circumstancesbecause they don't want to fallasleep in public.
SPEAKER: As the sign sticksdeeper into the complex reasonsbehind the condition,treatment options are expanding.
EMSELLEM: There are treatmentsavailable to improve alertnessand to manage cataplexyand narcolepsy.And we have medicationsavailable that allow for muchmore sustained levelof alertness.
SPEAKER: These treatments alsoreduce the symptomsof a disturbed nighttime sleep.
EMSELLEM: There are waysto restore orexin functionalityin the brain.Maybe at some timein the future, we could use stemcells to restore orexinin people who don't have it.
SPEAKER: Scientists are notentirely sure why orexin ismissing.An explanation may bethat the orexin cells are beingdestroyedby an autoimmune attack.
EMSELLEM: Most patientswith narcolepsyare left with the needto adaptto the residual symptoms,to adapt their lifestyleappropriately.
SPEAKER: The differencebetween the public perceptionversus the realitynarcoleptic patients faceevery day is profound.However, with advancesin research, accurate education,and increasing understanding,we can close this gapand change the livesof narcoleptic patientsand their loved onesfor the better.
[MUSIC PLAYING]Helene Emsellem, MD.<br> PubMed Central: “Recent advances in treatment for narcolepsy,” “The neurobiological basis of narcolepsy,” “Recently Approved and Upcoming Treatments for Narcolepsy,” “Health-Related Stigma as a Determinant of Functioning in Young Adults with Narcolepsy.”<br> PNAS: “Nonpeptide orexin type-2 receptor agonist ameliorates narcolepsy-cataplexy symptoms in mouse models.”<br> National Institute of Neurological Disorders and Stroke: “Narcolepsy Fact Sheet.”<br> Healthy Sleep: “The Science of Narcolepsy.” <br> Sleep Foundation: “Narcolepsy.”<br> Johns Hopkins Medicine: “Sleep/Wake Cycles.”<br> Narcolepsy Network: “New Survey Highlights the Prevalence of Misinformation and Misperception about Narcolepsy.”<br> Cleveland Clinic: “Is It Fatigue or Do You Really Have Narcolepsy?”/delivery/aws/fa/bd/fabdf9dd-0ef5-4e42-9c53-cdb5da2deb95/091e9c5e820567d7_narcolepsy-brief-breakdown_,4500k,2500k,1000k,750k,400k,.mp411/10/2020 12:00:0018001200photo of man sleeping/webmd/consumer_assets/site_images/article_thumbnails/video/narcolepsy_brief_breakdown_video/1800x1200_narcolepsy_brief_breakdown_video.jpg091e9c5e820567d7One of the most exciting things is when they realize they have a natural condition caused by their brain chemistry that requires treatment. (Narcolepsy is believed to result, in part, from low levels of a brain chemical called hypocretin or orexin.) That goes a long way toward easing the shame and self-blame that so many people with narcolepsy have. And once we determine it’s narcolepsy, we begin treatment.
By the time someone sees me, they’ve already been struggling for a while and are usually really grateful to be diagnosed and motivated to start a treatment plan. Still, there are challenges. Narcolepsy is a lifelong condition. You have to start a new routine to manage and ease symptoms. That routine might include setting a consistent bedtime and wake time. I also recommend brief naps throughout the day, but they have to be scheduled. On top of that, you have to take medication at the same time each day. All of those things might have an impact on your work schedule, sleep schedule, or even your social life. But once you realize how beneficial these changes are, you want to stick with your plan.Not everyone gets it, so sometimes I write school or work letters for people to explain their diagnosis to their bosses, teachers, or even peers. It can take a community effort to make a treatment plan successful, but it can be done.
Treatment can take a couple weeks to a couple months to work. And sometimes I need to make changes to a treatment plan. Sodium oxybate is the first-line treatment for narcolepsy, and it usually works well for sleepiness and cataplexy. But it comes in liquid form, so some people find it difficult to stick with. Fortunately, we have other treatments to try. For example, those who don’t have easy access to sodium oxybate may try antidepressants with a stimulant to manage their symptoms. It can take some trial and error. But again, when someone finally gets diagnosed, they’ve often been living with symptoms for years. They’re really motivated to do what it takes to feel better.The change in people who get treatment is amazing. They often have better relationships because they aren’t missing out on events and activities due to sleepiness. Their grades or work performance improves, and their mood does, too. So many people I’ve treated have said to me, “I thought this was just how my life was going to be.” But it doesn’t have to be that way. My goal is to help as many people with narcolepsy as possible so they can live full and healthy lives.