Narcolepsy: A Day in the Life
Reviewed by Neha Pathak, MD on September 15, 2020
Years to Diagnosis
I’d always been a sleepy child. By fifth or sixth grade, I started to fall asleep in school. By my teens, sometimes I’d fall asleep talking to people. My parents took me to a lot of doctors, but the advice was always the same: Go to sleep earlier; cut back on sweet foods. So, I was just left hanging with this excessive daytime sleepiness through all of high school and a good chunk of college.When I was about to flunk out my third year of college, I had to do something. I’d always wanted to be a doctor, and I needed to get good grades to go on to medical school. Like many other people with narcolepsy, I didn’t see a doctor. I blamed myself for being lazy or lacking motivation to do what I needed to do. Instead, I took a course that I hoped could prop up my GPA. It was on abnormal psychology.
The textbook for it had a section on sleep disorders. Each one included a small description of a person who had the disorder. When I got to the part about a woman with hypersomnia, I thought, “that’s my story.” I had exactly the same symptoms: always feeling sleepy no matter how much I slept, falling asleep in quiet situations, being limited by my sleepiness. I went to my university doctor after that, and she referred me to a sleep specialist.After an overnight sleep study, a daytime study called the Multiple Sleep Latency Test, and a review of all my symptoms, I had a diagnosis: type 1 narcolepsy with cataplexy. Cataplexy is a temporary loss of muscle control triggered by a sudden, strong emotion. In my case, my knees may buckle if I have sudden, strong emotion, like if I laugh really hard or if I’m surprised.If any doctor earlier in my life had referred me to a sleep specialist, I would have been diagnosed a lot sooner.
Narcolepsy affects interpersonal relationships and interactions, because when you’re that sleepy, you’re never 100% aware of what’s going on. As a child, a teenager, even a young adult in college, I would put my foot in my mouth a lot. I couldn’t read a social situation well enough to not say the wrong thing.I think I can read people a lot better now. Medication and exercise both help me control my symptoms, but finding the right regimen was a long journey. I’ve progressed through about eight medications since diagnosis to help control both the narcolepsy and my mild cataplexy symptoms.I also had to adjust my career expectations. In medical school, I initially wanted to go into some kind of surgery, like orthopedic surgery. But I didn’t really realize how much narcolepsy would be affecting my life. Working with this this disability, I had to consider what would give me the best life possible, and also help the most people. I had to come to terms with the fact that surgery was not going to be it.
ANNIE EMBERTSON: Hi, Dr.Emsellem.Good seeing you.
DR. HELENE EMSELLEM: Good to seeyou too.How have you been doing?
ANNIE EMBERTSON: A lotof changes this year.I got married last fall,and I started a new jobthis March.
DR. HELENE EMSELLEM: A lotof changes.How have you been coping,in terms of the narcolepsyand life?
ANNIE EMBERTSON: Pretty good.My new job is workingin an inpatient unitat the hospital.So, that's been a little bitof a hard change,trying to get my sleep schedulein order.
DR. HELENE EMSELLEM: Areyour medications keeping youadequatelyalert during that entire time?
ANNIE EMBERTSON: Yeah I takemy daytime stimulantsin the morning.And then usually, I take oneof them when I eat lunch.And then I'm usuallyable to make it the whole day.I'm able to take a 20 minutebreak in the afternoon.
DR. HELENE EMSELLEM:So a short nap is refreshingand sort of resets.
ANNIE EMBERTSON: Yes.In fact, even after my nighttimesleep, oftentimes I wake up notfeeling refreshed.But a 20 minute nap will feellike I've slept all night.
DR. HELENE EMSELLEM: Medicinesthat you're taking that aredirected towards the cataplexygenerally help?
ANNIE EMBERTSON: I takethe nighttime medicine thatdeals with the cataplexyand daytime sleepiness.And since I've been on it,I definitely feel morecontrolled.
DR. HELENE EMSELLEM: Do you everget cataplexy with sadness,or if you get upset?
ANNIE EMBERTSON: When I getangry at my husband, my kneeswill buckle.And usually, with mirth or kindof joy, and anything that's verytouching to me,like emotionally, I'llhave a slight bend in my knees.I have heard that whensome women get pregnant,that their symptoms either getworse, or sometimesthey go away.Have you had any patients whohave been pregnant dealwith those symptoms?
DR. HELENE EMSELLEM: So,a pregnancy is a little morecomplicated with narcolepsy.I've had patients workthrough their pregnancies,but the medication's generallynot considered to bea healthy thing to be on.The biggest challengeis learning to usethe timed naps, as well asexercise, to get youthrough the day,having a job that will beaccommodating.
ANNIE EMBERTSON:Another question, I guess,is as you age, do people'ssymptoms get worse, or do theyget better?Have you seen any changesin your other patients?
DR. HELENE EMSELLEM: Mostly,symptoms seem to be quitestatic over time.With normal aging, we just don'tsee the disorder disappear,unfortunately.But we also don't usually see itworsen either.
ANNIE EMBERTSON: I feellike as a health care provider,I'm starting to be moreopen with colleaguesabout my sleeping disorder.That's one of my goals,is to try to be more open,and to do more awareness.Because there is a lackof knowledgeout there in the general public,for sure.
DR. HELENE EMSELLEM: Good, goodfor you to try to come outof that box a little bitand help people understand.In terms of new researchand where we're going--looking at stabilizingnighttime sleep, finding waysto treat the cataplexy,looking at the overall impacton lifeand social circumstances--and encouraging peopleto get the exercise that theyneed to stay healthy.And try to keep this in its box,manage it, and not let it runyour life.
ANNIE EMBERTSON: Well, that'sall the questions I had for you.Thank you so much.
DR. HELENE EMSELLEM: You'revery, very welcome.And I always do tell my patientsyou have to talk to meabout the pregnancybefore you talk to your husband,so we can clear the deckswith beds.
[MUSIC PLAYING]Annie Emberston.<br>Helene Emsellem, MD./delivery/aws/ed/f5/edf5a28c-6514-4d0f-a50d-23bcf3499e98/091e9c5e820567d9_narcolepsy-inside-patient-visit_,4500k,2500k,1000k,750k,400k,.mp411/10/2020 12:00:0018001200photo of doctor patient consultation/webmd/consumer_assets/site_images/article_thumbnails/video/narcolepsy_inside_patient_visit_video/1800x1200_narcolepsy_inside_patient_visit_video.jpg091e9c5e820567d9
Learning to Thrive
Once I accepted that I wouldn’t be a surgeon, I went into a combined internal medicine/pediatrics residency because I enjoyed the broad range of medical cases, taking care of people, and using knowledge to help people. But as I learned more about narcolepsy to take care of myself, that spilled over to learning more about other sleep disorders. I became the go-to person for other residents who had questions about sleep disorders or sleep studies.By the end of my residency, I knew I wanted to go into sleep medicine. I then did a pediatric pulmonology fellowship, followed by a sleep medicine fellowship. So now I practice sleep medicine exclusively for children. Sleep medicine is a satisfying career as not only is it closely tied to my life, but it encompasses so many disciplines of medicine. I couldn’t imagine doing anything else.I’m also on the board of directors of the advocacy organization Narcolepsy Network (narcolepsynetwork.org). We run an online support group, provide local support, provide education materials, and host conferences. Being able to provide support to other people with narcolepsy is very gratifying to me, since I had to do it on my own for some time. While everyone’s journey with narcolepsy is different, with the right support, narcolepsy shouldn’t prevent you from living a full life