Wake-Up Call

by Denise Wagner on December 22, 2012

The sleeping disorder narcolepsy is no joke, but new research suggests possible relief for sufferers, says Marianne Dryburgh.

At parties, I am the person who is either sitting on the sofa fast asleep or being picked up off the floor because of a joke that somebody has told. In fact, any strong emotion, from laughter to fear, can leave me in a similarly disheveled heap for up to 20 minutes. I can laugh about it now (my friends even accept it as part of my normal behavior), but I lived with my symptoms for more than 10 years before a diagnosis of cataplexy – a sudden loss of muscle tone triggered by strong emotions – was offered. Cataplexy is a symptom of the sleeping disorder narcolepsy. It’s a neurological illness, but after so many years with no explanation I was convinced I was simply going mad.

For narcoleptics, it is of little comfort to discover that this is a common experience, with their symptoms often mistaken for a wide range of conditions, from depression and epilepsy to downright laziness.

Last month, the Brain Research Institute at UCLA published research that should lead to faster and more efficient diagnosis and, hopefully, more effective treatment. The research team, headed by Jerome Siegel, found that the protein hypocretin plays a central role in co-coordinating the brain’s link with the body to maintain muscle tone at key moments, both when we are awake and asleep. Narcoleptics are known to have lower levels of hypocretin, but until now, scientists didn’t know why this caused a problem.

“Our study explains how hypocretin works,” says Siegel, “and we found that it forms the link between motor activity and alertness.”

This explains why reduced levels of hypocretin in narcoleptics cause the irresistible urge to sleep at the most awkward moments, such as at work, during a meal or halfway through sex.

It also explains the sudden loss of muscle tone experienced by some sufferers in a cataplexy episode, and also at the onset and end of sleep, when sleep paralysis occurs. (Sleep paralysis involves being unable to talk or move while falling asleep or waking up.) It has long been recognized that these two symptoms are caused by Rapid Eye Movement (REM) sleep patterns that occur at the wrong time.

The breakthrough also brings fresh hope for better forms of treatment. Current therapies include doses of antidepressants and regular sleep for some symptoms and stimulants such as amphetamines for others. Some sufferers, who have struggled for support from their doctor, have resorted to experimenting with caffeine and even illegal drugs to make their daytime more bearable.

Siegel and his team are now investigating treatments based on injections of hypocretin to replace the lost protein. “It is just a matter of time before such treatment becomes practical,” he says.

In addition, the team is working to produce a simple blood test to screen people for lower hypocretin levels when they first develop sleep problems. Siegel says that a protracted diagnostic process is a common experience for narcoleptics, and by the time most are diagnosed, they have lost the majority of the cells that produce hypocretin. Early diagnosis would mean they could benefit from a new immunosuppressive therapy his team is developing that would halt the process of degeneration.

Apart from physiological improvements, earlier diagnosis could help to reduce the problems many narcoleptics suffer in their personal and professional lives. They often find it difficult to hold down a job – many have been fired for falling asleep at work – and past studies have shown that they also have difficulties in their social lives and relationships, even after treatment.

Two studies currently under way at the University of Illinois at Chicago and at Oxford University aim to improve understanding of the condition among the medical profession. The findings intend to document clearly how narcolepsy affects the health of young adults and their ability to cope. They will also help sufferers to develop strategies to manage their symptoms.

Despite the humorous overtones of a condition that literally can make you fall about laughing, many sufferers, such as 28-year-old Joe, do not find it funny. He describes his condition as “like some cruel joke that life is playing on me”. For narcoleptics such as Joe, this breakthrough is the first step to a better life. Until then, I recommend he takes the advice I was given by my good-humored and understanding GP: “Just turn it into your party piece.”

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