The sleep doctor who lives with a disorder he treats

Imagine sitting in a college lecture hall doing everything right: Your notebook is open, your coffee is in hand and you are determined to pay attention. And then, without warning, the professor's voice dissolves into gibberish. You do not realize you have fallen asleep. There is no sensation of drifting off, no gradual fade. One moment you are following along, and the next, a classmate’s elbow lands in your ribs, and you surface mid-sentence, disoriented, unsure how long you were gone.

This is how Luis Enrique Ortiz, M.D., 43, describes a “sleep attack." He received a Type 1 narcolepsy diagnosis when he was 20, between his sophomore and junior years of college at the University of Rochester.

“Sometimes it's painful to try to stay awake, to fight it,” Ortiz said in a recent interview with Managed Healthcare Executive. “It's suddenly as if you haven't slept in a whole day, and now you're in the middle of talking to someone in class or you’re at work. It just throws your life off balance.”

Ortiz is a pediatric sleep medicine specialist at Johns Hopkins All Children's Hospital in St. Petersburg, Florida, where he sees patients from infancy through age 21. He is also an assistant professor of pediatrics at the Johns Hopkins University School of Medicine. He lives nearby with his partner and his mini apricot-coat golden doodle, Zeus, who made a brief but welcome appearance during our Zoom call.

In addition to Ortiz’s roles at Johns Hopkins, he speaks at medical conferences across the country and volunteers at a family camp for kids with narcolepsy, hosted by the advocacy group Wake Up Narcolepsy.

Ortiz says his disorder has made him a better physician. “I feel like I have a better sense of what to ask for, or how the disorder may interrupt their lives,” he said of his patients. “It's tough because everyone wants to say, 'I wish I could fall asleep anywhere.' It's not an ability; it’s more like a detriment to fall asleep anywhere. It's not in your control.”

An often-missed diagnosis

Approximately 200,000 people in the United States have been diagnosed with narcolepsy, but it’s suspected that about 50% of people with the disorder are undiagnosed. This is because many of its symptoms, such as fatigue and depression, are present in other disorders.

Type 1 narcolepsy is characterized by the loss of cells in the hypothalamus that produce the neuropeptide hypocretin, which is responsible for regulating wakefulness, arousal and energy levels. Patients with Type 1 narcolepsy have an 85% to 95% reduction in the number of neurons that produce hypocretin, aka orexin. The cause of Type 2 narcolepsy, in which orexin levels remain normal, is still not well understood.

Ortiz can trace his earliest memories of narcolepsy back to fourth grade, when he began to have unusually vivid dreams during his after-school naps. By sixth grade, he was falling asleep in class. Throughout elementary, middle, and high school, he built systems to keep himself from falling behind, such as reading entire chapters ahead of time when he knew a portion would be assigned.

The strategy worked, until it didn't.

“Eventually, when I got into college, there were no ways to compensate,” Ortiz said. “There weren't enough hours in a day for me to attend classes, fall asleep, catch up on what I missed and then study on top of that.”

By his sophomore year, he was at risk of failing out and had to drop courses to protect his grade point average.

Ironically, this predicament is what led to his long-awaited diagnosis.

At that time, Ortiz was preaccepted into a medical program, with only one caveat: He had to graduate with at least a 3.5 GPA. So, he took a bunch of “easy A” courses over the summer to boost his GPA. One of these courses was titled Abnormal Psychology. Something clicked for Ortiz when he read the textbook chapter on sleep disorders. It featured a vignette of a girl with hypersomnia who wouldn’t fall asleep in class if her professor was highly animated.

“That struck a chord with me because that was my life for 10 years at that point,” Ortiz said. “If the professor wasn’t engaging, animated or funny, it was very hard for me to stay awake. And even then, I would probably still fall asleep.”

Ortiz has narcolepsy Type 1, which means he has excessive daytime sleepiness as well as episodes of cataplexy, which is an immediate loss of muscle tone. During cataplexy episodes, the mind stays alert; patients can hear and see what’s going on around them, even if they can’t respond right away. This is a far cry from pop culture depictions of narcolepsy, which may show a character collapsing and immediately falling sound asleep.

“Everyone feels sleepy, but this is on a whole different level,” Ortiz said. “It doesn't matter how good your sleep hygiene is or how many hours of sleep you get. It always comes back.”

Depending on the patient, cataplexy episodes might involve the entire body or just parts of the body. Ortiz says he “is lucky” that his episodes are infrequent and usually involve only a portion of his body; occasionally, his knees may buckle or he might drop something.

He shared a story of a particularly memorable cataplexy episode triggered by adrenaline during a medical school kickball game between residents.

“I was running from second to third base, and as my right foot contacted the ground, all of a sudden, my knee was not supporting my weight, and I almost fell. I caught myself, but for that split second, it was almost as if there was no leg. I felt my leg, but the leg was not supporting my weight,” Ortiz said.

More recently, he had an episode after waking up. “I made a big stretch, and that stretch felt really, really good, and then all of a sudden, the muscles of my hips gave out, and my head almost hit the countertop. I was maybe a few inches away from hitting it.”

The sleep cycle

To better understand narcolepsy Type 1, you must look at the two stages of sleep: rapid eye movement (REM) sleep, which is the stage associated with dreams, and non-rapid eye movement sleep (NREM). The body cycles between the two stages approximately 4 to 6 times each night, with each cycle averaging 90 minutes.

Ortiz said that narcolepsy has been described as “excessive REM sleep” or “REM sleep showing up where it shouldn’t be.” Typically, it takes one to two hours for a person without narcolepsy to enter REM. During sleep studies, Ortiz has observed narcolepsy patients go into REM sleep almost immediately.

REM sleep disruptions can induce episodes of sleep paralysis and hypnagogic and hypnopompic hallucinations in which people experience their dreams while awake. Patients may hear people call their name, hear shuffling sounds in the room or even experience full visual hallucinations.

Ortiz said that these experiences can be so jarring that patients may not tell their families about them, inadvertently delaying diagnosis.

“I might see shadow people; it's rare, but it's enough that I can use it to talk with my patients about what they may be experiencing,” Ortiz said. “Patients may not even tell their family that they're experiencing these symptoms because they just seem so weird. I think I once saw a xenomorph from ‘Alien’ when I was about 6 years old.”

Treatment trial and error

While there is no cure for Type 1 narcolepsy, there is a range of prescriptions and lifestyle modifications that can manage symptoms. Stimulants are the most prescribed class, which includes modafinil and armodafinil. Other classes include serotonin and norepinephrine reuptake inhibitors and selective serotonin reuptake inhibitors to suppress REM sleep, and tricyclic antidepressants and sodium oxybate to address cataplexy.

“I think I've been on them all. I've been on stimulants, various wake-promoting medications and the sodium oxybates,” Ortiz said.

Orzeyful (oveporexton) was approved recently by the FDA. It is the first medicine to treat Type 1 narcolepsy as a whole, meaning it addresses both the cataplexy and excessive daytime sleepiness components by activating the orexin receptors in the brain.

“I am really excited about the orexin agonist. I feel like a lot of people will respond very well to this,” he said.

He is currently taking solriamfetol, which is a dopamine and norepinephrine reuptake inhibitor.

Looking back, moving forward

When asked what narcolepsy has taken from him, Ortiz did not hesitate: a meaningful share of his social life. A relationship once ended, in part, after he fell asleep and failed to wake for a planned night out. Also, building a demanding medical career, he said, has meant deliberately narrowing which parts of his life receive attention. In contrast, others go undeveloped, a trade-off he believes is common to many people with the disorder.

Nonetheless, he relays a message of hope to his childhood self.

"I think a lot of things in life would have been a lot easier if we had that diagnosis earlier on, but we'll make it work. Just hang on.”