Conference helps medics wake up to sleep disorders

Stephanie went from living an active life to falling asleep on stage while playing piano as part of an orchestra, or collapsing on the floor when she was tickled by a joke. Dark brought no respite – although she slept, she was haunted by terrifyingly vivid nightmares.

Stephanie found herself unable to work, and feeling guilty about missing out on quality time with her son – until she was finally diagnosed with narcolepsy (which caused her to fall asleep) combined with cataplexy (which caused her loss of bodily control when she experienced laughter or strong emotions). Cataplexy usually only occurs in people with narcolepsy. 

Now, Stephanie will take part in Waking up to Sleep, to be held in Exeter on Wednesday (May 14 2014). The conference is designed to raise awareness of the biology and medicine of sleep and associated disorders. Stephanie, who lives in East Devon, said she first reported problems to her GP four years ago – but was only diagnosed late last year. It meant she endured several years before receiving the treatment which is now helping to control her condition. She said: “I lived with extreme tiredness for so long, and it had a severe impact on my life. I’m taking part in the conference because we really need to share information on conditions like this, to avoid others going undiagnosed when they could be receiving treatment.”

Professor Adam Zeman, of the University of Exeter Medical School, who diagnosed Stephanie and treated her at the RD&E, is co-organiser of the conference. He said: “Stephanie’s case illustrates the key features of narcolepsy well, and the delay in diagnosis that so often occurs. We spend a third of our lives asleep: it is essential for our physical and psychological well-being. But despite the importance of sleep, and the emergence of a growing range of effective treatments for its disorders, sleep education and sleep medicine have been neglected areas. ‘Waking up to Sleep’ will provide a broadly-based introduction to sleep biology and medicine. As well as reviewing the full range of major disorders of sleep and their treatments, we will highlight local services for patients with sleep disorders and current research related to sleep. At the close of the meeting our keynote speaker, Paul Reading, the President of the British Sleep Society, will address the fundamental question of why we need to sleep.”

During the last four years, Stephanie became so tired that full time work was untenable. She gave up studying for her degree and took a part-time post, to allow her to schedule in naps of two hours twice a day so that she could function. Last summer she collapsed at a local community event, when her reaction to walking into a room full of friends and relatives caused her to lose control of her muscles and keel over. Her family called an ambulance, but it took another 6 months of a progressively worsening condition before her diagnosis.

Stephanie said: “My way of dealing with it is to be open and honest. When I go into a shop, I sometimes tell the shopkeeper not to worry if I fall asleep or collapse – I’ll be ok after a minute. They appreciate it, and it means I’m less embarrassed if it happens.

“I can’t drive any more, and I often fall asleep on the bus, so the driver wakes me up at my stop. Even now I’m on treatment, I fall asleep if I sit still for long. I used to love reading, but now I can’t make it to the end of a page without dropping off.

“The cataplexy is most commonly triggered by laughter – I can lose control of my facial muscles, or of my arms and legs, and sometimes of my whole body. I laugh a lot – but my friends have been brilliant. They know I’ll soon be back to myself. . At first it was inhibiting to have my arms or face twitch uncontrollably, or to flop over at the waist when I laugh, but I decided not to let it get to me. Sometimes it can even be quite funny.”

Narcolepsy is caused by loss of the neurotransmitter hypocretin within the brain, perhaps as the result of an autoimmune process. Stephanie is now on treatment for both her sleepiness and her cataplexy, and it is having a dramatic impact on her health. She is making a phased return to her part-time job, and is rebuilding her social life. “It’s fantastic,” she said. “All my friends had got used to me cancelling because I was too tired, but now I’m really enjoying having them over. My son had a friend to stay recently, which we couldn’t do before.

Sometimes the medication doesn’t work properly and I have the odd day of extreme tiredness, but it’s a vast improvement. I just hope that anyone else who has this condition gets diagnosed sooner than I did.”

See Professor Adam Zeman talking about the conference:

Sleep photograph via Shutterstock.