“I was conscious, but I couldn’t move,” remembers the mum-of-three. “The one bonus was that the entire Cambridge United squad were in there, back in the days when Dion Dublin was on the team.

They waited with me until the ambulance came: all the other girls were jealous!”

The collapse was, explains Louise, a symptom of narcolepsy – a rare and chronic sleep disorder. Affecting an estimated five in every 10,000 people, it’s a neurological condition which causes a wide range of disabling symptoms (everything from extreme fatigue to cataplexy, sudden loss of muscle control).

Diagnosed when she was just 19, Louise has battled narcolepsy all her adult life.

She relies on daily amphetamines – between six and eight tablets a day – to keep her going. And there is no cure.

“You learn to live with these things,” explains Louise, 39. “You have to really, don’t you? And I always said I wouldn’t let narcolepsy get the better of me.

“You have to live your life and make the most of every day. And I’ve got lots to be grateful for – like my three lovely sons.”

Louise first showed signs of narcolepsy in her mid to late teens. Fidgety at school, she admits it was hard to concentrate in class. And, exhausted, she often spent most of the weekend in bed. By the time she got her first job, aged 17, Louise was feeling drowsy almost all the time; as soon as she got home at night, she’d be out like a light.

“Sometimes I’d go to bed on a Friday and literally couldn’t get out of bed all weekend,” she remembers. “My parents would say ‘How can you be so lazy?’ – they got really cross. I lost friends over it too:

when they came to collect me for a night out I was never ready, because I’d have fallen asleep on my bed. “And I noticed that, when I was at work, my writing sometimes started to trail off; it looked like a child’s writing. I knew there was something wrong. And I wasn’t going to give up until I’d found out what it was.”

Referred to Addenbrooke’s, Louise was tested for all kinds of things, from anaemia to hormone imbalance. But, for a whole year and a half, doctors couldn’t get to the bottom of her problems. “You start to think you’re being a div, that you’re going barmy,” admits Louise.

It wasn’t until she had her first cataplexic episode – when her mouth began to twitch uncontrollably – that everyone began to take Louise seriously.

“My mum actually thought I was having a stroke,” she adds.

Then, after a consultation with a student doctor, narcolepsy was diagnosed.

“They did a tissue typing test which confirmed it,” Louise explains. “It was a bit scary; I’d never even heard of this thing. But, more than anything, it was a relief – a relief to finally know what was wrong.”

Sent to a London hospital, for a further two weeks of tests, Louise then started medication: first a herbal caffeine supplement and then, when that failed, amphetamines – the primary ingredient in Ecstasy. “I’ve been taking them for 20 years now,” she says. “They’re Class A drugs, basically. But they enable me to live a normal life.”

Taking up to eight amphetamines a day means the Cambridge mum is awake – and on the go – from dawn until dusk. There are, she says, certain side-effects, such as early morning palpitations. But without the pills, Louise would struggle to keep her eyes open.

When the drugs wear off, in the evening, she becomes instantly drowsy. “Who else do you know that falls asleep eating their dinner?” asks Louise, laughing. “My head just drops and I end up with my chin in gravy or tomato sauce . . .

“While the kids are awake, I’m awake. I manage by being constantly on the go: I can’t sit down to watch telly, not even EastEnders, because I just fall asleep. So I do the cleaning, do a bit of decorating . . .

“The sad thing is that whenever I do get time to myself I can’t enjoy it – I’m asleep.

I can’t have a nice hot bath, or paint my nails, or call my friends on the phone in the evening. The last time I went to the cinema was when I was 15.”

Louise says her health was at its worst when Aaron, her eldest son, was tiny.

Living alone, a young single mum, her drug regime wasn’t working properly; suffering from exhaustion, she developed what she describes as “automatic behaviour”.

Absentmindedly, she did all kinds of things – from putting laundry in the freezer to, on one memorable occasion, drinking bleach. “I burned my mouth, it was horrible,” she remembers. “That was quite scary.”

Since then, medication has helped bring Louise’s condition under far better control. And Aaron, now 15, is, she says, a great source of support. “When I nod off over dinner he’ll wake me up,” laughs Louise.

Louise went on to have two more boys with her current partner: Lee, eight, and Jay, two. She had to stay on her meds throughout all her pregnancies which was, she admits, a real worry; after two decades on amphetamines, Louise says she could be at risk of an enlarged heart herself (and has just had a scan which, thankfully, pronounced her fit and well).

“Without the pills I wouldn’t be able to function really,” continues Louise. “I wouldn’t be able to look after the kids, because I wouldn’t be able to stay awake.”

Lee has ADHD (attention defecit and hyperactivity disorder), meaning he has behavioural problems and is always incredibly active. It’s a challenge for any mum; for Louise it can be totally debilitating.

Thanks to her medication, Louise can drive. But she refuses to get behind the wheel in the evening, because that’s when her pills wear off – and the inevitable drowsiness kicks in. “I know what could happen,” adds Louise. “And there is no way I’d put my kids and other people at risk.”

As well as taking the pills, Louise has learned to manage her condition, within reason, herself. She steers clear of warm, dark environments, which are more likely to lull her to sleep.

And she can pretty much control the cataplexy, which is triggered by emotions, such as anger or amusement. As soon as Louise detects an attack (usually thanks to a tingling sensation) she removes herself from the source of the emotion – and mentally calms herself down.

Although she had to quit work in her early 20s because of her illness, Louise has always been keen to do voluntary jobs:

until a couple of years ago, she was city councillor for King’s Hedges.

“I am proud of that,” she adds. “But I’m a real believer in getting on with things.

Either you get out there and live your life, or you spend it sitting on the sidelines.”

http://www.cambridge-news.co.uk

The gene has a known role in the immune system, which strongly suggests that autoimmunity, in which the immune system turns against the body’s own tissues, plays an important role in the disorder.

“The link between narcolepsy and autoimmunity was proposed decades ago, but efforts to verify it have failed repeatedly.

Current findings leave little doubt that autoimmunity plays a role,” says Merrill Mitler, Ph.D., a program director with the National Institute of Neurological Disorders and Stroke (NINDS).

The study was funded principally by NINDS, with additional support from the National Institute of Mental Health (NIMH), the National Heart, Lung and Blood Institute (NHLBI), and the National Institute of Allergy and Infectious Diseases (NIAID), all components of NIH.

The new study, which appears today in Nature Genetics, focused on narcolepsy with cataplexy – a sudden loss of muscle tone that can cause a person to collapse, with or without falling asleep.

About 1 in 2,000 Americans have narcolepsy-cataplexy. The symptoms of narcolepsy-cataplexy have been shown to result from the death of a small group of brain cells that normally regulate the sleep-wake cycle by releasing chemicals called hypocretins.

Genetic and environmental factors both clearly play a role in narcolepsy-cataplexy. Until now, the best evidence for autoimmunity as a cause of the disorder was the discovery that nearly everyone with the disorder has unique variants of a gene called HLA-DQB1*0602. This is one of the genes that encodes HLA proteins, which dot the surface of the body’s cells and help the immune system identify foreign proteins. Some researchers theorize that the HLA variants found in people with narcolepsy-cataplexy predispose them to an autoimmune reaction that destroys their hypocretin-producing cells.

There are gaps in that theory, however, says Emmanuel Mignot, M.D., Ph.D., director of the Center for Narcolepsy at Stanford University School of Medicine in Palo Alto, Calif., and a Howard Hughes Medical Institute investigator. Dr. Mignot discovered the link between narcolepsy and the hypocretins, and helped establish the link to the HLA system. HLA proteins are found in many tissues including the brain, where they may affect brain development, he says.

HLA variations, however, do not fully account for narcolepsy-cataplexy. Dr. Mignot led a genome-wide association study to search for other genes associated with narcolepsy-cataplexy. These studies involve scanning the genome – the entire set of DNA – for small differences between people who have a disorder and people who do not. Dr. Mignot’s study included more than 4,000 individuals, all of whom had the HLA variants that predispose to narcolepsy-cataplexy but only about half of whom had the disorder. Participants were recruited so that many genetic groups were represented. Subjects were from the United States and eight countries in Europe and Asia; hundreds were African-American, Korean, and Japanese, groups known to have a high incidence of the disorder.

The researchers discovered that in addition to unique HLA variants, people with narcolepsy-cataplexy are also more likely to have unique variants of the TCRA gene, which encodes a receptor protein on the surface of T cells. T cells are the mobile infantry of the immune system. In concert with the HLA proteins, the T cell receptor enables T cells to recognize and attack foreign invaders, such as bacteria and viruses. Changes to the T cell receptor could increase the likelihood that the cells will direct their attack against the body.

The findings of Dr. Mignot’s group indicate that narcolepsy-cataplexy is linked to autoimmunity and involves T-cells. The research could lead to new approaches to prevention and treatment. One possibility may be preventing the disorder by stopping the effects of the autoimmune process. “If we can define the changes in the T cell receptor associated with narcolepsy-cataplexy, we might be able to develop drugs that block the protein’s abnormal activity and prevent the onset of the disorder,” says Dr. Mignot. Current treatments such as stimulant drugs for combating daytime sleepiness and antidepressants for cataplexy are only able to control symptoms, and do not address the underlying loss of hypocretin cells.

It is important to note that this study, like most genome-wide association studies, did not identify genetic variants that directly cause narcolepsy-cataplexy. Instead it identifies groups that are more likely to show narcolepsy-cataplexy and groups that are less likely to show the disorder. In people with the HLA variants that predispose to narcolepsy-cataplexy, there is about a 20-fold higher frequency of the disorder if variants in the TCRA gene are present. It is yet to be known which people with the genetic variants will go on to develop narcolepsy-cataplexy.

Other risk factors for narcolepsy-cataplexy remain to be discovered, and Dr. Mignot’s findings could provide clues to their identity. For example, further studies to characterize the T cells in people with narcolepsy-cataplexy could help reveal whether specific environmental factors – such as infections – contribute to the disorder. Dr. Mignot’s findings also could lead to a better understanding of other autoimmune diseases where HLA genes are known to play a role, such as multiple sclerosis and type 1 diabetes.

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