A Wake Up Narcolepsy study asks patients about their diagnosis experience, most burdensome symptoms, and what treatments they find effective.
Monica Gow’s son Thomas was 10-years-old when he first showed symptoms of narcolepsy. He was sleeping up to 18 hours a day, had brief episodes of loss of muscle control, and at one point, missed school for 3 weeks straight.
Three months later after several doctor’s opinions, Gow’s son was diagnosed with narcolepsy. The journey towards a proper diagnosis and the frustrating process of getting an answer really struck a nerve with Gow. In fact, it took her by surprise when she learned that a 3-month turnaround for a proper diagnosis was considered “lucky” by others.
Gow searched for a support organization that would fill the void of patient perspectives and knowledge on narcolepsy. But in 2008, there were only a handful narcolepsy-focused organizations and none of them were particularly focused on finding a cure, she says. So in the fall of 2008, Gow co-founded Wake Up Narcolepsy, a nonprofit patient advocacy group that focuses on increasing awareness and supporting research on narcolepsy treatment methods.
Fast-forward to today: Wake Up Narcolepsy sponsored a study that aimed to provide patient perspectives on narcolepsy symptoms and treatments. Almost 1,700 patients with narcolepsy and their caretakers participated in the survey to answer 29 questions on the disease burden, diagnostic delay, treatment response, disease stability, and downsides of current treatment options. The abstract was presented at SLEEP 2017.
Of the 1,699 respondents, two-thirds reported having narcolepsy with cataplexy and 62% of the respondents reported that their symptoms began before they were 18.
“It was the first time a survey like this was ever conducted and was aimed to provide information for the FDA’s public meeting called ‘Narcolepsy Patient-Focused Drug Development’ that was about gathering patient perspectives,” says Gow, who also sits on the board of Wake Up Narcolepsy.
The study found that approximately 82% of the respondents received a narcolepsy diagnosis one year or more from symptom onset. It also found that the absence of cataplexy and pediatric onset of symptoms increased the odds of delayed diagnosis. In fact, it revealed that the odds of a diagnostic delay were doubled if a patient had an onset of symptoms before the patient turned 18.
“The big wow factor of this study was that the typical age of onset of symptoms is between 10 to 17 years old, but many people can go 10 years or longer without an accurate diagnosis,” says Gow.
Among the participants with cataplexy, 943 individuals found excessive daytime sleepiness, cognitive difficulties, and cataplexy to be the top 3 symptoms that affected their lives the most. Similarly, among the 313 respondents without cataplexy, the top 3 most concerning symptoms were excessive daytime sleepiness, general fatigue, and cognitive difficulties. In addition, 67% of respondents had other diagnoses like depression, anxiety, and fibromyalgia that they had to manage in addition to narcolepsy.
The survey also asked participants to identify the most effective treatment methods for managing narcolepsy symptoms. About 43.6% of respondents reported that prescribed medication provided substantial improvement in symptom management and the other half reported some improvement of symptom onset with medications.
In addition, many of the survey participants reported using nonpharmacologic options to manage their symptoms: about 36% practiced good sleep hygiene, about 17.9% changed their diet, 14.5% used supplements and alternative medicine, and 10.4% used environmental changes.
Although most patients reported some improvement in narcolepsy symptoms with treatment, about half of patients with cataplexy still had daily cataplexy with treatment and about 57% of patients experienced daytime sleepiness or fatigue at least 3 times a day.
“The survey’s findings show that there is still a huge burden on patients and there’s still so much research that needs to be done for more treatment options,” says Gow. “The survey really shows why it’s important for the community to gain a better understanding of narcolepsy and how important it is for people to get their diagnoses on time.”
Yoona Ha is a freelance writer and digital strategist.