As a young girl, Liz Jones knew there was something wrong with her legs. Every evening, she would experience a "creepy, crawly" sensation that persisted throughout the night. Her legs would jerk involuntarily, making it impossible to fall asleep. She was six when her mother first took her to a doctor for help. That doctor chalked it up to growing pains. Another doctor assumed she had a psychological condition and prescribed antidepressants, which made her symptoms worse. Another advised her to "read a book at night," a suggestion that was both dismissive and ineffective.
"It was so hard to find anybody who knew anything about it," Jones says of her experience with restless legs syndrome, or RLS. It wasn't until her mid-40s that a doctor finally diagnosed the condition.
Often disregarded as a fake illness, RLS gained new ground in the scientific community this week after researchers at Emory University in Atlanta and the Iceland-based company DeCODE Genetics identified a gene variant that increases risk for the condition. The team reported their findings in the current issue of the New England Journal of Medicine. Those findings, along with a separate study published simultaneously in Nature Genetics, which found variants in three genes linked with RLS, suggest that RLS is a both a genuine syndrome and one that can be treated more effectively.
No one knows how widespread RLS really is. Experts estimate that anywhere from three to nine million Americans suffer from the neurological condition that triggers an intense, often irresistible urge to move the legs. The tingling, burning sensation associated with RLS can last for hours and worsens at night, causing severe insomnia, according to Dr. David Rye, director of Emory's Healthcare Program in Sleep Medicine, and one of the study's lead authors. For most people it develops during middle age and gets progressively worse over time. Nearly 60% of RLS sufferers have a family history of the condition. Jones, for example, has seven siblings, four of whom also suffer from RLS.
Patients like Jones say RLS is extremely tricky to describe, which explains why getting a diagnosis can be difficult. The website RLSHelp.org lists more than 100 words and phrases that sufferers use to express how the syndrome feels, ranging from "tortured limbs" to "bugs crawling in my legs at night" to "the bone itch." The website also contains the term "Jimmy legs," referring to a popular Seinfeld episode in which Kramer dumps a woman for constantly thrashing her legs in bed a common, comic treatment of the syndrome. "It's such a trivial-sounding disorder," says Dr. Mark Buchfuhrer, a sleep specialist who is working on his third book about RLS. "People say they've got restless legs and you go, 'Well, calm them down and get over it,' right?"
To make matters worse, RLS is not discussed in most medical schools, so the condition is commonly overlooked or mistreated; many doctors question the condition's seriousness. Often, says Jones, RLS patients develop their own coping devices, including alcohol abuse and social isolation. Four years ago, Jones started a support group for other RLS sufferers in her hometown of Champaign, Ill., realizing that you can't understand RLS unless you suffer from it yourself.
"Everyone thought I was not quite right," Jones says of the reaction she got when describing her symptoms. "It's not something visible like a wound."
Currently, there are two drugs approved to treat RLS. One of the drugs, Requip, made $500 million last year for the pharmaceutical company GlaxoSmithKline, which first marketed the drug in 1997 for Parkinson's disease. Today, the company markets Requip some say aggressively as a treatment for RLS. It is now prescribed more often to treat that condition than Parkinson's, Rye says. Experts who challenge the validity of RLS say that such drug-company advertising campaigns over-medicalize phantom conditions and drive people to take drugs they don't need.
But Rye, himself an RLS sufferer, argues that more than 2,000 papers have been published in the past 20 years confirming that RLS is a legitimate condition. "About half of those papers occurred before drug companies even spent a penny on it," he says.
Jones says patients who suffer severe forms of RLS need better remedies. Her experience with psychiatric treatment has been frustrating and often futile, and she says she isn't alone. Some of the earliest drugs used to treat RLS actually worsened the symptoms over time a phenomenon known as "augmentation." As a result, Jones says many of the RLS sufferers in her support group are hamstrung by their condition, forced to make dispiriting lifestyle changes to avoid embarrassment. One woman retires every night at 8 p.m. to hide her "night-walking." Others can never go to plays or movies because sitting still aggravates their condition.
"Any possible progress is a wonderful thing," Jones says, "Any kind of lead we can get is the hope of better diagnosis and better treatment because [doctors] understand it."