When the IrsiCaixa Institute for AIDS Research published its study on chronic fatigue syndrome (CFS) in late March, it was immediately flooded with requests from people who wanted immunologist Julià Blanco to analyze their blood to provide proof that they suffer from the condition.
"But we are a research lab, not a clinical lab," explains Blanco, a researcher at the institute and chief author of the paper. For the first time, researchers have identified eight immune system molecules whose presence in a patient's blood could be biomarkers for a debilitating condition, the origins of which remain unknown.
CFS is outwardly manifested in a variety of ways, from joint and muscle pain to digestive problems, difficulty concentrating, intolerance to physical exercise and respiratory problems. The main symptom, however, is crippling morning fatigue for over six months. There are no specific tests for the condition, which makes diagnosis difficult, and the medical community is divided over whether it constitutes a specific disease of its own or is a set of symptoms associated with other conditions such as depression.
The study, which was jointly funded by La Caixa bank, the Catalan government and the Germans Trias i Pujol Hospital, was published in the Journal of Translational Medicine and is groundbreaking because instead of analyzing a single parameter in many patients, it looked at all the cells in the immune system of a limited number of patients.
"That is how they discovered a pattern," says Blanco. "The results tell us there is an alteration at the immune level," which manifests itself in the form of eight changed molecules.
Besides helping make a diagnosis, the finding is relevant because "it could bring us closer to a better treatment to modulate the immune system and modify the course of CFS, which these days tends to be chronic," adds José Alegre, a CFS specialist at the Vall d'Hebron Hospital in Barcelona.
Researchers identified eight molecules whose presence could be biomarkers
That is why, for people suffering from chronic fatigue, IrsiCaixa's project goes beyond a scientific discovery - it brings them hope that CFS will become more widely accepted as a true disease in its own right, by giving doctors specific tests to run on patients.
"Right now it can be diagnosed, but the methodology for doing so is purely clinical, not very quantitative at all," notes Blanco.
Typically, an average of 10 years goes by between the manifestation of CFS and its diagnosis, Alegre explains.
There is another side to the condition: if there is no diagnosis, it is harder for a worker to obtain sick leave, legal disability status or even peer recognition of one's suffering. That is why any kind of progress means worlds to those with CFS, which affects one in every 1,000 people, according to some estimates. Alegre mentions US studies reporting that two percent of women between 18 and 55 years of age may be affected (sufferers are overwhelmingly women).
One might say that Cristina Montané, a 52-year-old from Barcelona, diagnosed herself. "All my childhood memories are about being tired and cold. I had no awareness of being sick because to me that was the normal way to be," she explains.
When she became pregnant with her first child, she discovered that for once, she felt fine. "I realized I could lead a normal life." The same thing happened during her two other pregnancies, and the doctor began ruling out other pathologies. "In the end it was I who looked for a list of symptoms and told him, 'I have them all'."
I had no awareness of being sick because to me that was the normal way to be"
Montané had to stop working for an entire decade. Now that her children are grown up, she is working from home with a flexible schedule. "It is necessary to start by educating doctors about this disease; nothing justifies the fact that they continue to demonstrate a complete lack of knowledge about such a serious, complex and widespread illness as this one."
Carlos González, who has suffered from CFS since 2005, takes it ironically. "It's a disease for rich folks, because it condemns you to the life of a priest. I might spend four hours in front of the computer one day, then spend the next three weeks lying in bed because of a virus. You cannot afford to be stressed out, you have to watch what you eat, and you have to always try to get a good night's sleep."
Fortunately for González, who is now 42, he used to work for a Dutch bank where he made a lot of money, which allowed him to undergo a multitude of tests in London, the Netherlands and Belgium, as well as participating in the Vall d'Hebron study.
"I dragged myself around for a year, and thought it was fatigue. Then I caught glandular fever and four weeks later the virus had not disappeared. I had it for three years. At first I just crept from the bed to the sofa," he says.
"I was lucky because my bank shut down, we received compensation, and I was able to rest. Now I have disability status, although in the Netherlands they can strip that away from you after a few years."
Carlos cannot follow a regular schedule, but he is already making plans and making home videos with his computer. "There is no interest in conducting large-scale studies and finding out how many people are affected, which is more than just HIV-positive people. Doctors would rather give people antidepressants," he says.
Montané agrees: "You end up becoming your own doctor," she sighs, adding that she takes vitamin and mineral supplements and anything that "reinforces the immune system."
"It's a very political disease, with many interests behind it; pharmaceutical companies cannot get rich with it," adds González. "It is frustrating that half the doctors believe in it and half do not, considering it is recognized by the World Health Organization and has 4,000 studies behind it. There is a lot of ignorance, because doctors do not study this disease in medical school."
Lourdes Martínez, a lawyer who specializes in obtaining legal disability status for people with chronic fatigue, remembers a client who was a pediatrician and didn't use to believe the disease existed. But after taking a year off work for what she thought was exhaustion, the pediatrician never worked again.
Martínez, who has seen 50 such cases, says it used to be called "yuppie flu" because the first diagnosed cases were urban professionals with high salaries. "They are typically brilliant people with very good jobs, but fatigue often makes their brains work less efficiently. They get disoriented or cannot concentrate on a text for more than 20 minutes," she says. Martínez has even handled divorce cases caused by CFS. "It's hard on the family. They are very dependent people, even if they seem quite self-reliant."
Obtaining legal disability status is a lengthy, expensive, and often useless endeavor. "Doing it through administrative channels is nearly impossible, and through the courts it is very complicated, although it is slowly bearing fruit," says Martínez. Social Security does not cover a series of tests that do not improve the patient's health but serve to determine evidence for a judge to rule in favor of disability status.
"The problem is, there are only two units [in the public health sector] specializing in fatigue, and both are in Barcelona. And it is not easy to obtain a report from them, which judges hold in higher esteem than reports from the private sector," the lawyer adds.
Ana Ruiz figures that in the five years she has been ill, she has spent around 25,000 euros on private medical treatment, testing and legal advice. During the 18 months that she waited for the trial, she received no income whatsoever - no salary, no temporary disability subsidy, not even unemployment benefit, since her company did not want to fire her until a court had issued a ruling.
Martínez says her clients' experiences at medical courts are nothing short of "torture." "Either they don't believe them or they humiliate them," she says, "And that's due to the 2011 Social Jurisdiction Law. Before that, if you were on leave for 18 months, disability proceedings were automatically initiated. Now, after 12 months, the doctor issues a clean bill of health. People are getting trampled."
Before obtaining her disability status, Ana Ruiz went through six courts. "At every one of them I was treated like a criminal and humiliated. In one case, the abuse triggered an anxiety attack that left me bedridden for a week."