Beginning in her early 20s, Julie Faenza’s doctors attributed her significant sleep problems — suddenly nodding off during the day and an inability to stay asleep at night — to long-standing anxiety and depression.
Medical Mysteries: Why was her sleep so frighteningly out of whack?
After a scary incident while driving, she began a search — punctuated by missteps and erroneous conclusions — that resulted in the discovery of an overlooked disorder
June 10, 2023 at 9:00 a.m. EDT
The episode that convinced the North Carolina health-care lawyer something else was wrong occurred in 2013, when she fell asleep at the wheel early one morning on her way to work. Badly shaken but uninjured, Faenza, who lives in Raleigh, began a year-long search — punctuated by missteps and erroneous conclusions — that culminated in the discovery of a long-overlooked disorder.
“It was a game changer almost immediately,” Faenza, now 42, said of the treatment she received for the ailment that took eight years to diagnose. “At the time I wasn’t someone who did a lot of medical research. I hadn’t needed to.” Her experience changed that.
Mental health explanation
Faenza’s sleep problems surfaced around 2006. Since adolescence the medication she had taken for depression and anxiety had been reasonably effective.
But no matter how much rest Faenza had gotten the previous night, she began feeling unusually sleepy during the day. She routinely ducked out to her car for a 30-minute nap during her lunch break at work.
“I always felt better after a nap,” she said.
At night she fell asleep quickly but had trouble staying asleep. She often woke up after an hour or two and had difficulty going back to sleep. Her psychiatrist prescribed a popular sleep drug that seemed to help for a while.
In 2008, Faenza, who was working full-time, enrolled in night law school, which involved classes from 6:30 to 9:30 p.m. That year she decided to undergo gastric bypass weight loss surgery after a long battle with severe obesity.
Preoperative testing included a polysomnogram (PSG), an overnight test performed at a sleep center in which a person is hooked up to electrodes that monitor brain activity and breathing patterns during sleep. A PSG is the primary test for sleep apnea, a common and potentially serious condition in which breathing stops briefly and repeatedly. Apnea is a particular risk for severely obese patients who can experience serious complications while under anesthesia.
Faenza was relieved to learn she didn’t have sleep apnea. Her December surgery went well.
But losing weight did not improve her sleep, which by 2010 had worsened dramatically. Faenza frequently dozed off during night classes; getting through a full day of work without falling asleep became nearly impossible. She was prescribed Adderall, a widely used stimulant that she took during the day to help her stay awake, and Xanax, a potentially addictive sedative used for anxiety, to help her stay asleep at night. Neither seemed to help much.
Her therapist and psychiatrist, noting that Faenza was engaged and planning a wedding scheduled the day after her 2011 law school graduation, decided she was overloaded.
“I was terrified. I hadn’t even realized I was sleepy.”— Julie Faenza
“They said, ‘Of course you’re tired, you have so much going on,’” Faenza remembered being told. The expectation was that after the twin events, her sleep would improve.
When it didn’t, the explanation shifted.
“You’re bored,” she remembered her therapist telling her. Once she had an engaging legal job, the therapist predicted, her sleep problems would resolve.
By October 2012, Faenza who had married, passed the bar and gotten a job as a legal analyst, began lowering her dose of Adderall under a doctor’s supervision in the hope that might improve her sleep. She also began going to a gym regularly before work; exercise reduced her daytime sleepiness.
One morning in early spring 2013, after seven hours sleep, Faenza hit the gym at 5:30 a.m., returned home for a shower and breakfast and then drove to work.
As she was turning into her office complex shortly before 7:30 she suddenly fell asleep, only to be awakened by a violent jolt as her car rolled onto a curb. She was uninjured — and greatly relieved that no other cars or pedestrians were in the vicinity.
“I was terrified,” Faenza said. “I hadn’t even realized I was sleepy.” She had often fallen asleep without warning at home while reading or listening to music, but never while driving.
Faenza called her internist who referred her to a sleep disorders clinic.
A ‘visual barricade’
In April Faenza saw a physician assistant at a sleep clinic. The PA ordered a second PSG, followed by a multiple sleep latency test consisting of a series of naps that assess daytime sleepiness.
Faenza said she was told she had to discontinue stimulants a week before the test but could take other medication. No stimulants posed a problem: She doubted she could stay awake at work.
To minimize the chance of being caught sleeping, Faenza had erected what she called a “visual barricade” on her desk. She sat strategically positioned behind two large computer monitors that faced her office door, which shielded her from view if she nodded off. Faenza decided to take the week off before the sleep study.
To her surprise, the PSG showed that she did have sleep apnea — a result that contradicted the finding five years earlier. And the sleep latency test showed that she fell asleep in 2.6 minutes on average; a reading under five minutes is regarded as indicative of a disorder.
But the latency test did not detect periods of sleep characterized by rapid eye movements (REM). The presence of REM episodes so early in the sleep cycle can indicate narcolepsy, a chronic neurological disorder that impairs the brain’s sleep/wake cycles and causes excessive daytime sleepiness.
The PA concluded that Faenza’s problems were the result of apnea. She prescribed an additional stimulant, replaced the Xanax with a different medicine at bedtime and recommended that Faenza be fitted for a CPAP machine, a device that uses mild air pressure to keep breathing airways open during sleep.
But after six months on the new drug regimen, and despite nightly use of her CPAP, Faenza continued to conk out without warning during the day. In January 2014 the PA ordered another PSG and a maintenance of wakefulness test, which assesses daytime alertness in a dark room specially designed to induce sleep. The test can help determine the severity of sleep apnea symptoms. Although Faenza learned later that the wakefulness test was performed incorrectly, she still fell asleep much more quickly than expected. She was advised to adjust the settings on her CPAP.
In late January 2014 Faenza met with a neurologist specializing in sleep disorders — the first time she had seen a doctor during her treatment for a sleep disorder. He told her that she had undergone all possible tests and that he didn’t know why treatment wasn’t working or what was wrong; she didn’t fit the criteria for narcolepsy or other sleep disorders. Other than adding additional stimulants, he had nothing to suggest, Faenza recalled.
“It was really upsetting and frustrating,” she said. “This was affecting so many things in my world. I wasn’t doing well at work, and I couldn’t do much of anything else. It felt like I was going to be in a perpetual state of exhaustion.”
Faenza decided her only choice was to start searching for answers on her own. “I started Googling,” she recalled.
“This was affecting so many things in my world. I wasn’t doing well at work, and I couldn’t do much of anything else. It felt like I was going to be in a perpetual state of exhaustion.”— Julie Faenza
She was struck by the description of a condition called cataplexy that occurs in Type 1 narcolepsy. “It clicked,” Faenza said.
Cataplexy is the sudden loss of voluntary muscle control and weakness while awake that is triggered by strong emotions including anger, fear or excitement. Episodes, which last seconds to a few minutes, can be occasional or frequent and resolve on their own. Cataplexy is not present in Type 2 narcolepsy, which tends to be less severe.
For years Faenza had noticed that when she got angry or excited her legs felt briefly “tingly and weird” and weak. She also noted that in some cases people with narcolepsy can fall asleep without warning during activities including eating, talking or driving.
The cause of narcolepsy, which can range from mild to debilitating, is unknown. The disorder is estimated to affect 1 in 2,000 Americans. It often develops in adolescence and is believed to result from genetic factors coupled with an environmental trigger. Excessive daytime sleepiness is its hallmark symptom.
If untreated, the lifelong disorder can greatly impair social, cognitive and psychological functioning. Treatment typically consists of medication and lifestyle changes.
Faenza emailed the neurologist to ask if she might have cataplexy. He dismissed the possibility; cataplexy, he replied, affects the head or neck, not the legs. He offered to repeat the sleep latency test but said he doubted it would yield a different result — unless Faenza had not stopped taking her antidepressant before the test. (Antidepressants can skew the results.)
That stopped Faenza cold. She told him she had continued taking the drug because no one had told her not to.
“I was angry,” Faenza recalled. She decided she needed to start over, this time with a new doctor. “If they didn’t tell me to stop [the drug] the first time, I couldn’t trust them to do the test right.”
Her internist referred her to a new sleep specialist.
Yet another sleep study
The second neurologist told her he suspected she might have Type 1 narcolepsy. He ordered a test for genetic markers associated with cataplexy, which can reveal low levels of a brain hormone called hypocretin, which helps control sleep cycles. If Faenza did not have one of these markers, he said, narcolepsy was unlikely.
After one marker was found, Faenza repeated the polysomnogram and the sleep latency test — this time without stimulants or antidepressants. The prospect of not taking the antidepressant that had worked well was scary, said Faenza, whose doctors helped wean her off the drug over a six-week period.
The repeat PSG found no sign of sleep apnea, while the sleep latency test was abnormal and detected REM episodes. Faenza was diagnosed with Type 1 narcolepsy.
“When I got the results I cried with joy,” she recalled. After eight years, her problem had a name and could be treated.
Such a delay is not uncommon, said Charles Bae, a sleep specialist who is an associate professor of medicine and neurology at the University of Pennsylvania. It can take five to 10 years for patients to receive a narcolepsy diagnosis, he noted, although awareness of the disorder is increasing.
“There are any number of things more common than narcolepsy,” he said. Depression and anxiety can cause excessive sleepiness and insomnia.
But cataplexy can be a tip-off. And contrary to what the neurologist told Faenza, it can affect any part of the body, not just the head, Bae noted.
The lack of education about sleep disorders in medical school remains a barrier to timely diagnosis, he added. “Sometimes even sleep doctors just focus on the test results.”
Soon after her diagnosis Faenza began taking sodium oxybate or xyrem, better known as GHB or the “date rape drug.” Xyrem is approved to treat narcolepsy, although it is not clear how it works. The drug may slow brain activity, improving the quality and duration of sleep. Access is tightly controlled by the Food and Drug Administration. Faenza also takes daytime stimulants and has adjusted her sleep schedule.
The results were dramatic. “I wasn’t falling asleep all the time,” Faenza said. She was able to stay asleep at night and the episodes of cataplexy diminished.
Faenza, who believes her maternal grandmother had narcolepsy that was never diagnosed, wishes she had heeded advice her mother had given her years earlier. A longtime registered nurse, her mother emphasized the importance of knowledge and self-advocacy in medical matters.
“It’s not wrong to trust doctors,” Faenza said, “but I could have asked better questions and bypassed some negative consequences. I wish I had started doing research earlier.”
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