Kylee Taylor was distraught. For nearly two years, her teenage son, Kieran Porter, had seen multiple doctors and undergone countless medical tests, but none provided an answer for his alarming and mysterious illness.
Starting in December, 2009, at the age of 12, Kieran suddenly developed strange, uncontrollable muscle twitching in his limbs, which, almost overnight, progressed to full-body seizures. He suffered from unpredictable bouts of ballism (violent flinging of the limbs), dystonia (painful and debilitating muscle contractions), tremors and hypokinesia, in which his entire body would lock up, paralyzing him for several minutes to as long as two hours at a time. Even more bizarrely, these symptoms would change and disappear before flaring up again.
Speaking from her home in Sydney, Australia, Taylor recalls that the first specialist assumed that Kieran's condition was life-threatening and that nothing could be done to help him. "The first specialist basically [said], 'Just take him home and love him for whatever time he's got left,'" she says. "Another one told me that he was faking it to try to get out of school. And another one just laughed at me any time I asked what it was."
Taylor, who is a nurse and paramedic, scoured the Internet, reading medical texts and reaching out to experts for advice, before finally stumbling on the answer: Kieran's illness was psychogenic.
Psychogenic illnesses, formerly known as "hysteria" and also known as "conversion disorder," are illnesses that may involve a range of neurological symptoms, from movement disorders to blindness and pain, but for which there are no physical explanations.
Once considered a rare medical phenomenon, psychogenic illnesses, believed to be triggered by psychiatric or psychological issues, are more common than thought, some specialists suggest. And research is proving that there are clear differences in the brain activity of those with psychogenic illnesses, providing evidence that people's thoughts and emotions can have a profound effect on their physical state. In other words, ailments that have often been disregarded as being "all in your head" may, in fact, legitimately stem from there.
Yet because psychogenic illnesses are so ill understood, patients can go for years and through millions of dollars of medical testing without a proper diagnosis. Worse, many medical practitioners dismiss their ailments as imaginary.
"I felt like I was the only one in the world with it," Kieran, now 15, says, adding that it was particularly frustrating when doctors assumed that he was faking his symptoms. But when his mother matched his symptoms with what she had read online, they went to his psychiatrist, who confirmed her suspicions. Receiving a diagnosis of psychogenic movement disorder, he says, was "a huge sigh of relief."
In London, researchers James Rowe of the University of Cambridge and Anette Schrag of the University College London hope that their findings from a new study on the brains of patients with psychogenic dystonia will help to dispel some misconceptions.
Their study compared the brain positron emission tomography (PET) scans of patients diagnosed with psychogenic dystonia, which caused painful muscle contractions in the leg, and patients with similar but organic, or explainable, dystonia of the leg, as well as those of healthy individuals.
What they found was that both groups of dystonia patients had abnormal activity in the motor cortex of the brain, which controls voluntary movement, and the striatum, which acts as a relay station. But there were marked differences between the two; patients with organic dystonia had overactive motor cortexes and underactive striata, while patients with psychogenic dystonia had underactive motor cortexes and overactive striata.
"Both sets of patients were very, very abnormal, [but] they were opposite in the way they were abnormal," Rowe says.
He says these findings may help to develop a simple scanning method to diagnose psychogenic dystonia in the early stages of illness. (Psychogenic illnesses are often misguidedly considered what Rowe calls a "dustbin diagnosis," applied when all other possible explanations have been eliminated.)
But most important, he adds, "it forces a change in the attitude as to how researchers need to start thinking about these psychogenic illnesses, recognizing that biology as well as the psychological factors both are needed, and trying to understand how it is that psychological factors can work with the brain to cause these symptoms."
According to Rowe, at least a quarter of cases seen by neurologists are unexplained, and 5 to 10 per cent of total neurology cases are believed to be psychogenic in origin.
Canadian expert Anthony Lang, director of the division of neurology at the University of Toronto, says the prevalence of psychogenic illnesses may be greatly underestimated. Even patients who have organic neurological problems, such as Parkinson's disease or multiple sclerosis, often have what is called "psychogenic overlay" or "functional overlay," where they experience enhanced symptoms or additional symptoms that are unrelated to their primary problem, he says.
Lang says scientists have reason to believe that those with depression and anxiety may be more susceptible to psychogenic movement disorders, but the actual cause is still poorly understood.
In some cases, the underlying psychological triggers are never found. For this reason, Lang and other experts are arguing that the label "psychogenic" should be scrapped in favour of the term "functional neurological disorders."
The good news is that it is possible for patients to make a full recovery with proper treatment, which may include medication, psychotherapy and physiotherapy. But Lang notes that an early diagnosis is important; continuous testing and consultations tend to reinforce and prolong the illness, he says.
Since receiving a diagnosis, Kieran has discovered that his symptoms stemmed from his inability to handle stress and express his emotions. With medication and psychiatric treatment, he has made significant improvement. "I'm getting to school more regularly, I'm able to function more like a normal – I guess you could say – human," he says.
"Once I learned that my emotions were behind what was causing all of this, I was rather surprised that the brain can convert my emotions into physical movements in such a strong and powerful way," he says, noting that he has started a YouTube channel and Facebook groups to help spread the word about the little-known illness.
"I simply want to provide a sense of comfort, I guess, [to others] to know there's someone else suffering with this out there."
The psychogenic diagnosis
How can you distinguish psychogenic symptoms from organic ones, which have explainable physical causes?
One possible sign is the sudden onset and sudden resolution of symptoms, says Dr. Robert Chen, a professor of neurology at the University of Toronto. The symptoms may also be incongruent; for instance, patients may experience sensory problems that do not fit with known nerve distribution.
Dr. Anthony Lang, director of the division of neurology at U of T, says specialists can also conduct specific tests. For example, when asked to perform certain complex tasks, patients may experience a change in the frequency of their tremors, whereas individuals with organic illnesses, such as Parkinson's disease, exhibit no change.