Constant sleep problems

Faenza's sleep problems first surfaced in 2006 and initially, her doctors attributed her sleep problems to her anxiety and depression. Since adolescence, medication she had taken for anxiety and depression was reasonably effective, but her sleep problems persisted.

No matter how much sleep Faenza got the previous night, she started feeling sleepy during the day, and frequently took a 30-minute nap in her car during her lunch break at work. At night, Faenza fell asleep quickly but had trouble staying asleep, often waking up after an hour or two and then having trouble falling back asleep.

Then, in 2008, Faenza underwent gastric bypass weight loss surgery. But her weight loss didn't improve her sleep issues. In fact, by 2010, her sleep problems had dramatically worsened.

Faenza was prescribed Adderall, a stimulant to help her stay awake during the day, and Xanax, a sedative to help her stay asleep at night, but neither worked especially well, Boodman writes.

Then, one morning in spring 2013, after getting seven hours of sleep, Faenza went to the gym at 5:30 a.m., came home, took a shower, ate breakfast, and drove to work. On her way into her office complex, Faenza fell asleep while driving and was awakened by a jolt as her car rolled onto a curb.

No one was injured, but Faenza said she was "terrified."

"It was a game changer almost immediately," she said. "At the time I wasn't someone who did a lot of medical research. I hadn't needed to."

Faenza then called her internist who referred her to a sleep disorders clinic.

Multiple sleep tests

Faenza went to a sleep clinic where a physician assistant (PA) ordered a polysomnogram (PSG) — an overnight test performed at a sleep center where a person is hooked up to electrodes monitoring brain activity and breathing patterns while they sleep — to test for sleep apnea.

Five years prior, Faenza had a PSG that determined she was not suffering from sleep apnea. However, this PSG revealed that Faenza did have sleep apnea.

Faenza also had multiple sleep latency tests performed, which found she fell asleep in 2.6 minutes on average, a reading that suggests a sleep disorder. But the sleep latency tests did not detect early periods of sleep characterized by rapid eye movement, which could indicate narcolepsy.

Following the results, the PA determined sleep apnea to be the cause of Faenza's problems, prescribed an additional stimulant, replaced her Xanax with a different medication, and recommended Faenza get fitted for a CPAP machine.

After six months on the new regimen and CPAP machine, Faenza continued to struggle to stay awake during the day. In January 2014, the PA ordered another PSG alongside a maintenance of wakefulness test, which determines daytime alertness in a dark room specifically designed to induce sleep. Afterwards, Faenza was advised to adjust the settings on her CPAP machine.

Later that month, Faenza met with a neurologist specializing in sleep disorders, who told her he wasn't sure why treatment wasn't working or what was wrong and that, based on her tests, she didn't fit the criteria of narcolepsy or other sleep disorders.

"It was really upsetting and frustrating," Faenza 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 then started searching on the internet for answers and discovered a condition called cataplexy that occurs in people with Type 1 narcolepsy. Cataplexy is the sudden loss of voluntary muscle control and weakness triggered by strong emotions, including anger, fear, or excitement. Faenza said she noticed for years that whenever she'd get angry or excited, her legs briefly felt "tingly and weird" and weak.

Faenza mentioned the condition to her neurologist, who said cataplexy only affects the head or neck and dismissed the possibility. He offered to repeat the sleep latency test but said he was skeptical there would be a different outcome — unless Faena had continued to take her antidepressants before her initial test, as these drugs can impact results.

Faenza said she had never been told to stop taking the drug before. "I was angry," she said. Faenza decided she wanted to start over 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," she said.

Finally, a diagnosis

A second neurologist suspected Faenza had Type 1 narcolepsy and ordered a test for the genetic markers associated with cataplexy. After one genetic marker was found, the neurologist ordered a PSG and sleep latency test.

The PSG found no signs of sleep apnea and the sleep latency test came back abnormal, detecting REM episodes, leading the neurologist to diagnose Faenza with Type 1 narcolepsy.

"When I got the results I cried with joy," Faenza said.

It took Faenza eight years to get her diagnosis, but according to Charles Bae, a sleep specialist and associate professor of medicine and neurology at the University of Pennsylvania, that kind of delay is not uncommon, as it can take five to 10 years for patients to receive a narcolepsy diagnosis.

"There are any number of things more common than narcolepsy," Bae said. However, cataplexy can be a clue, and Bae noted that it can affect any part of the body, not just the head.

According to Bae, a lack of education about sleep disorders in medical school remains a barrier to a quick diagnosis. "Sometimes even sleep doctors just focus on the test results," he said.

After her diagnosis, Faenza started taking sodium oxybate, or xyrem, also known as GHB. The results were significant. "I wasn't falling asleep all the time," Faenza said, and she was able to stay asleep at night.

"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." (Boodman, Washington Post, 6/10)

While most people don't anticipate becoming a "medical mystery," the path to an accurate diagnosis can be "surprisingly complex, strewn with cognitive land mines, logistical roadblocks and red herrings." Writing for the Washington Post, Sandra Boodman offers five tips for patients on how to avoid becoming a medical mystery.