Medical Mysteries 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

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.”

https://www.washingtonpost.com/wellness/2023/06/10/sleep-problems-medical-mysteries/