Narcolepsy, a relatively rare and poorly understood neurological condition, can be hard to diagnose. Julea Steiner was misdiagnosed for years before a sleep study helped doctors recognize her symptoms—excessive daytime sleepiness, vivid dreams, hallucinations, and mild cataplexy—as narcolepsy. Steiner is a sleep health advocate and assistant clinical professor and director of professional development at the University of North Carolina Gillings School of Global Public Health.
Steiner spoke with Sleep Review about narcolepsy and the informational website she hopes will spread awareness about the condition, which is sponsored by Jazz Pharmaceuticals. Check it out at www.morethantired.com
What’s the public perception of narcolepsy and how is the real condition different?
Julea Steiner (JS): Yeah, that is an excellent question.
I think the public perception of narcolepsy is really informed by these stereotypes and these comic portrayals that we see in movies. I think when people hear the term “narcolepsy,” they often envision somebody falling asleep in their dinner plate, or falling asleep while they’re walking across the street, and that is actually a myth. That really doesn’t happen in narcolepsy.
With narcolepsy, with the sleepiness of narcolepsy, which is a chronic neurologic disorder where the brain’s ability to control the sleep-wake cycle is impaired, what really happens—one of the symptoms is called “excessive daytime sleepiness.” That’s just this overwhelming all-consuming sleepiness that usually comes on gradually over a period of several minutes. So, you might feel just a heaviness descend, your eyes become very heavy, and you may feel a strong need to take a nap. But usually you can get to a place to take that nap. For me, I have narcolepsy, I’ve never fallen asleep in the middle of dinner, or in the middle of a conversation.
So, I think that that’s what people think of. I can talk a little bit about where that might come from, there’s another symptom that a lot of people with narcolepsy have, called “cataplexy.” That is a weakening of the muscles that occurs sometimes with strong emotions, like laughter, anger, surprise.
For me, my cataplexy’s very mild, so you might not even notice that I’m having it. I would tend to drop things a lot, my knees might slightly give out. But for other people, who have more severe cataplexy, that can be a partial or total body collapse. When that happens, the person’s muscles are paralyzed, so they can’t move, but they are fully conscious. They can hear everything that’s going on around them, they’re very aware. They’re not asleep. So I think that is where a little bit of that mix-up happens, in the public perception, and the real narcolepsy.
The real narcolepsy also has—it’s a very complex and frightening disorder for people that have it. A couple other symptoms that I want to mention: they are hypnagogic hallucinations, which are vivid, lifelike dreams. They can be very terrifying, you might feel like you’re being chased or attacked. They’re very real. They often occur with another symptom called “sleep paralysis,” and this is where you’re falling asleep or you’re waking up in the morning—similar to cataplexy, you might be able to hear what’s going on around you, and you might be having one of these hallucinations at the same time, but you can’t move, you can’t call out, sometimes you feel like you can’t breathe, so that’s very frightening.
Finally, I think a symptom of narcolepsy that a lot of people aren’t aware of is sleep disruptions. So it’s frequent nighttime awakening.
Again, with the public perception of narcolepsy, I think they think it’s kind of this luxurious thing, like, you can just sleep anywhere, anytime, and that it’s really enjoyable. But people with narcolepsy, it is a disorder of the sleep-wake cycle, so they’re often up a lot during the night. They might fall asleep easily, but then they’re waking up. The way that I describe it as a person with narcolepsy, you always feel like you’re—for me, trapped, a little bit, between being awake and asleep. You’re somewhere in the middle, and you feel that way day and night.
You suffered through a lot of misdiagnoses and were eventually diagnosed after a sleep study. Why is narcolepsy hard to diagnose and how can a sleep study pinpoint the condition?
JS: Yeah, I mean, I think—again, the public perception of narcolepsy makes it hard to recognize and diagnose. I think there’s not a lot of training for primary care providers, even some sleep specialists have a hard time recognizing all five symptoms of narcolepsy, so I think that’s one reason it can be hard to diagnose.
Another reason, people might feel like they’re—like, for me, for so many of these years—you know, I had a sense that something was wrong, I knew that I was more tired than other people, but I didn’t actually think of some of these symptoms as being symptoms of a medical condition, I just thought it was kind of how I was. So I think a lot of people maybe don’t seek help as soon as they should. I think those are a couple of reasons that it’s really hard to diagnose.
I think getting to a sleep specialist is really important, if you have—I think it’s also important to note you don’t have to have all five symptoms of narcolepsy. You may just have excessive daytime sleepiness, and you might still have narcolepsy. So getting to that sleep specialist, and getting to a sleep study, would be really critical if you felt like you were having any of the symptoms of narcolepsy.
And then another reason: the main symptom is being sleepy and being tired, and that can be a symptom of so many disorders, so I think when you’re describing that—And sometimes it doesn’t look like sleepiness, sometimes it feels like poor memory or concentration or hyperactivity, and people describe it and articulate it in different ways. I think there are just many many reasons it’s hard to diagnose.
What is that the sleep specialist looks for on your sleep study results?
JS: They look for how quickly you fall asleep, and then how quickly you go into REM sleep, or dream sleep. People with narcolepsy typically get there much more quickly than people who do not have narcolepsy. And then, again, with a sleep specialist and a neurologist, or whatever sort of physician you’re seeing, with your sleep study, they’re also really going to look at your clinical history and your symptoms, along with the results of that sleep study, to make your diagnosis.
What advice would you give to doctors about how to diagnose narcolepsy?
JS: First, I would tell them to educate themselves about narcolepsy, if they don’t know a lot about it. And, to ask some key questions. I knew I was very sleepy, we talked a lot about my sleepiness, but nobody ever asked me any questions about cataplexy, or my dreams. So I think just probing a little bit, just asking, if you have a patient that is just describing this sort of overwhelming sleepiness, maybe just touch on a couple of these other symptoms. I think it just takes a person asking a couple of the right questions to get closer to a diagnosis.
Once a person is diagnosed, what are some of the treatments options available?
JS: There are actually several treatment options available, and what I’ve found with narcolepsy is that it’s really individualized. I worked with my neurologist to come up with a treatment and lifestyle management plan, and I think I would encourage anyone with narcolepsy to do the same. But I think the really important message here is getting to that diagnosis, and being persistent about getting to that diagnosis. Because, you can’t even begin to think about treatment until you get a diagnosis.
Some of the pharmaceuticals that are available for this, for example Xyrem, which is manufactured by Jazz, has been noted as being a very expensive drug, although there was a generic version approved by the FDA a couple weeks ago. So I wonder if you could talk a little bit about the accessibility and affordability of some of the medications that might help people with narcolepsy, and how often they are or are not covered by insurance.
JS: Yeah, again, I don’t feel like that’s something that I can really speak to. I think my message here today is just to raise awareness about the symptoms. I lived with these symptoms for 26 years, and I was undiagnosed, and that’s a really long time to suffer. So I really see my role as raising awareness about these symptoms, getting this information out there, and hopefully helping other people reach a diagnosis.
To that end, can you talk a little bit about More Than Tired, that’s the website that you’re promoting?
JS: Sure, that’s right. So the website is morethantired.com. It is sponsored by Jazz Pharmaceuticals. It has a symptom screener, so of all the symptoms that I mentioned, you can kind of walk through those symptoms, see where you fall, and then there is a directory with sleep specialists. So if you do feel like you’re experiencing these symptoms of narcolepsy, then you would be able to find a sleep specialist in your area.
It sounds like those features are mainly designed for patients, or people who are concerned that they might have narcolepsy. Is there much on that website for physicians about how to recognize narcolepsy and what to do about a patient that comes to them with these symptoms?
JS: Yeah, I think so. I mean, it is a patient-centered website, there is the symptom screener, but absolutely a physician could receive just as much education as a patient in terms of recognizing the symptoms of narcolepsy.
Great, well thank you so much. Is there anything that you wanted to add today?
JS: I would just like to add that if anyone out there is experiencing any of the symptoms that I’ve talked about, even just one or two, you don’t have to have all five- just to educate yourself about narcolepsy, be persistent, advocate on your own behalf, and don’t give up on yourself. I don’t want anyone to suffer any longer than they have to.
Rose Rimler is associate editor of Sleep Review.