The Diagnostic Journey for Narcolepsy

In previous editions, we’ve talked a lot about how diagnosis is only the first part of the journey with narcolepsy. It’s true that there are many pieces to managing the disorder that follow, but that diagnosis is something we really want to hone in on in this edition.

The information for this edition comes from my own experiences, as well as from Anthony Izzo, DO, and Jason Todd, MD, who is also a person with narcolepsy. These two doctors were speakers for the recent Wake Up Narcolepsy (WUN) Brown Bag Webinar: Narcolepsy Diagnostic Journey.¹

Although I have summarized some of the webinar highlights in this article, I highly recommend watching the video to hear Dr. Izzo break down the logistics of the diagnostics and hear Dr. Todd tell his own story of discovering he had narcolepsy while navigating medical school.

What Causes Delays in Diagnosis?

Even though narcolepsy frequently has an early onset, most studies report the time between symptom onset and proper diagnosis often exceeds 10 years.² One of the components of WUN’s mission is to minimize this delay. But why is there delay in the first place? Dr. Izzo breaks it down into five main points as summarized below:

Lack of awareness among healthcare professionals

It’s estimated that only 1 in every 2,000 Americans has narcolepsy and because it’s relatively rare, many health care professionals do not feel comfortable making a diagnosis. In fact, only 42% of the 100 sleep specialists who responded to the AWAKEN Survey indicated that they felt “very” or “extremely” comfortable diagnosing narcolepsy.³ As mentioned on the webinar, there’s also a need for more funding for narcolepsy research. Despite a 30% increase in sleep research funded by the National Institutes of Health (NIH) from 2009-2017, there was a 44% decrease in NIH-funded narcolepsy research during that same time.⁴

Overlap of key symptoms with other disorders

Although there are five main symptoms of narcolepsy, I want to highlight the one that affects all people with the disorder: excessive daytime sleepiness (EDS). EDS overlaps with many disorders, including obstructive sleep apnea, delayed sleep phase disorder, periodic limb movement disorder, shift-work sleep disorder, idiopathic hypersomnia, and depression. Given how many disorders this main symptom overlaps with, there is room for misdiagnosis to occur.

Stigma surrounding sleepiness

As Dr. Izzo puts it, “Unfortunately stigma is a real reality for patients with narcolepsy. When people are sleepy before they have a diagnosis—sometimes even after they have a diagnosis—their loved ones can be very judgmental.” The effects of this stigma on people with narcolepsy compared to a control group have been shown in the levels of social rejection, financial insecurity, internalized shame, and social isolation. Nearly all of these impacts are statistically significant, and there is a proposed model where the stigma itself also contributes to the loss of daytime functioning, as sleepiness does. “It creates a vicious cycle, and it compounds upon itself,” Dr. Izzo says.

Limitations of the multiple sleep latency test (MSLT)

The fourth and fifth points go somewhat hand in hand. As Dr. Izzo explains in the webinar, “We don’t have great biomarkers. We don’t have great ways to test for narcolepsy. There’s really only two ways, beyond our clinical acumen as physicians, as sleep specialists. The two tests are the MSLT and genetic testing with spinal fluid-measurement of spinal fluid orexin, which is a neurotransmitter that’s missing in people with narcolepsy. Neither is great.”

The MSLT can be time-consuming, with up to 18 hours in a sleep lab, and costly. There are a lot of variables that can affect the results, including medications the person is taking. Some of the medications cannot be tapered off safely for two weeks prior to testing. Depending on those variables, it can also lead to a misdiagnosis of a sleep disorder.

Lack of novel biomarkers

Genetic testing involves looking for the marker HLA-DQB1*06:02, an allele strongly associated with narcolepsy. Since this protein is highly prevalent in the general population of the US, it does not ensure that the person with it has narcolepsy. However, most people with narcolepsy do have the marker.

Discovering that someone has the marker allows them to do a lumbar puncture (spinal tap) to measure the cerebral spinal fluid orexin. However, the procedure is fairly invasive and can be painful, and is specific to narcolepsy type 1 with a minimal role for narcolepsy type 2 and idiopathic hypersomnia. Dr. Izzo mentions that the last paper in the literature about any type of novel biomarker for narcolepsy was in 2015, and that really didn’t go anywhere.⁵

Common Experiences on the Narcolepsy Journey

From all the different obstacles outlined, there are many ways that the diagnosis process can be derailed or delayed. Let’s talk about some common experiences on the journey to narcolepsy diagnosis that many people encounter. Maybe some of these will sound familiar to patients you’ve seen.

Noticing something is wrong… but dismissing it

In my journey, it was right before high school started. I couldn’t get out of bed in the mornings unless my mom dragged me. I was sleeping through alarms and trudging through the school day, only to return home and sleep some more. But everyone around me was talking about how tired they were, so I thought it was normal. I just assumed I was worse at dealing with my exhaustion than they were.

Dr. Todd experienced this on his journey too, as a student at UMass Amherst when he fell asleep every time he attended one specific class. His professor spoke in a monotone voice to a large auditorium of students in low lighting. He would joke with his friends about how fast he could fall asleep, but ultimately wasn’t that concerned.

In other people’s journeys, a different symptom may catch their attention—maybe they notice their knees feel wobbly when something catches them off guard. It could be that they start to experience sleep paralysis when they wake up or start to fall asleep, sometimes accompanied by hallucinations. But they tell themselves it’s all in their head, or not that bad, or will get better on its own.

Misdiagnosis, coping mechanisms, and other attempts at solving the issue

During my experience, I was put on half-days from school. It was supposed to help with my anxiety and allow me to work from home the other half of the day. Instead, it allowed me to take naps between each set of work, which did end up helping me keep up with the workload. However, it made me feel isolated from my peers. I was also prescribed antidepressants because my EDS was perceived as not wanting to engage with the world.

During Dr. Todd’s experience, every time he fell asleep in that class, it was with an energy drink in his hands. Drinking energy drinks and caffeine are common ways of chasing that feeling of being awake, less sleepy. If anything, this can prolong the diagnosis by covering up the issue.

Other people may experience serious misdiagnoses that lead to more unnecessary prescriptions and tests. It might be that they also turn to substances and self-medicate. It’s so important to spread awareness and educate people about the signs of narcolepsy so that it can be recognized before people start attempting to fix a problem in ways that only end up harming them.

Someone stepping in to advocate for you

For me, it was my mom. She had seen so much of my personality, interests, energy level, and so much more change, and she was determined to figure out what was going on. My mom pushed me to keep going and keep trying to figure these things out, even when I was sick of going to the doctors and talking about my symptoms. I didn’t have the energy to fight for myself so she fought for both of us.

For Dr. Todd, it was the preceptor of his neurology rotation in medical school: Dr. Izzo. Once Dr. Izzo noticed the signs in the sleep lab and clinic appointments, he pulled Dr. Todd aside and wanted to refer him to one of his colleagues.

For some of your patients, you might be the advocate who steps up for them. Or it might be another specialist out there, noticing the signs of narcolepsy and referring them to the appropriate professional. It might be a teacher, a family member, or a friend. It might be the patients themselves who step up and say there is something wrong and that it’s not in their heads. It can be anyone, but if you can be that person for someone, it makes a big difference.

 Finding the right doctor

In my journey, I went to a psychiatrist to be treated for anxiety and depression. The sessions  had not been revealing much, and I was still very reserved when answering her questions. One day, seemingly out of nowhere, she asked if I had considered getting a sleep study done. I was referred to the Ghaly Sleep Center in East Syracuse, NY, where I met with Robyn Porpiglio, NP, and scheduled a sleep study. Then, I was diagnosed with narcolepsy.

In Dr. Todd’s journey, he didn’t want to be referred to one of Dr. Izzo’s colleagues, but rather wanted to be Dr. Izzo’s patient. He waited for the rotation to finish to avoid any conflict of interest, then made an appointment. They did a polysomnogram and the usual labs, such as iron testing, which all came back fine, but the MSLT confirmed the diagnosis of narcolepsy.

In someone else’s journeys, you could be the right doctor. Make sure you know the signs of narcolepsy and know where to refer patients who may be struggling with it. There’s a great tool for finding a sleep specialist by using a zip code at the top of our resources page on the WUN website.

Dealing with a narcolepsy diagnosis

I didn’t take my diagnosis that seriously at first because I thought I would go on medication and it would all be fixed instantly. I was overwhelmed once it settled in that this is something I need to truly dedicate my time and energy to. I am thankful that I had a good support system to listen to me and a doctor who answered all of my questions and connected me with others living with narcolepsy.

Dr. Todd says of his diagnosis, “At the time I kind of struggled with this dichotomy between being validated for all the symptoms that I’ve been having and the kind of jokes that I’ve had between my friends and family and whatnot, but then also having this lifelong diagnosis.”

No matter what response a person with a narcolepsy has to their diagnosis, they don’t have to go through it alone. There are many others out there living with this disorder, willing to connect and share advice. Visit our new HCP Resources page to see what we have available for your office to provide your patients with the best support.

By Cara Weaver

Source: SleepWorld Magazine Jul/Aug 2024 Issue

References

1. Izzo A. Todd J. Narcolepsy Diagnostic Journey. Wake Up Narcolepsy May 2024 Brown Bag Webinar. Accessed June 1, 2024. https://www.youtube.com/watch?v=i0KwqciAZ6c
2. Thorpy MJ, Krieger AC. Delayed diagnosis of narcolepsy: characterization and impact. Sleep Med. 2014; 15:502-7.
3. Rosenberg R, Kim AY. The AWAKEN survey: knowledge of narcolepsy among physicians and the general population. Postgrad Med. 2014 Jan;126(1):78-86.
4. Project Sleep. NIH responds on narcolepsy research to Congress. Project Sleep website. https://project-sleep.com/nih-responds-on-narcolepsy-research-to-congress/. Accessed July 1, 2024.
5. Liu Y, Zhang J, Lam V, et al. Altered sleep stage transitions of REM sleep: a novel and stable biomarker of narcolepsy. J Clin Sleep Med 2015;11(8):885–94.