“I hurt all over, felt exhausted but couldn’t sleep, and no longer had the strengths to keep my spirits up.”
–Sue Jackson, May 15, 2006
When describing a case of chronic fatigue syndrome (CFS), one needs look no further than Sue Jackson. Diagnosed in 2002, her symptoms (muscle pain, exhaustion, sleeplessness) are not unusual and her description of life with CFS could be straight out of medical literature. However, Sue also has the unique position of being the mother of two children with chronic fatigue syndrome. In her award-winning CFS blog, Sue chronicles her family’s battles with CFS, Lyme disease, school boards, and physicians alongside their collective triumphs. For 10 years she has provided a revealing window into the lives of CFS sufferers and a valuable resource for families experiencing the same disease. Not just a personal blogger, Sue has also become a citizen-scientist, cataloguing the research and policy-making that goes on in the CFS world in order to help her followers make sense of the tangled discourse surrounding her disease. The current state of CFS knowledge is a complex web of competing opinions and promising leads that can leave patients and doctors struggling to define and manage the illness. More recently, the world of CFS research has also hit a major dead end.
A study published to great fanfare in Science in 2009 suggested that a newly discovered retrovirus, XMRV, was correlated with cases of CFS, causing patient groups and researchers to scramble for more information in the hopes that they had finally found the cause. Teams around the world have since spent millions researching the XMRV-CFS link and although these studies yielded some useful information, none were able to effectively prove the correlation. The final nail in the coffin was the partial retraction of the original paper in February 2012. Now, CFS researchers are back to square one – poorly funded, unrecognized, and without any strong leads for potential causes or cures.
The story of what we now know as chronic fatigue syndrome began in Incline Village, Nevada in the mid-1980s. A team of epidemiologists from the US Centers for Disease Control and Prevention (CDC) had investigated four bizarre outbreaks in the Lake Tahoe area over several years that seemed to be associated with the Epstein-Barr virus. All those afflicted shared the common symptom of prolonged fatigue. The outbreaks received sporadic coverage in both national and international media which led to a spike in reported cases. Over the next few years, the CDC team gathered several thousand reports from physicians around the country of undiagnosed patients suffering from chronic fatigue, muscle pain, depression, and other symptoms that they thought pointed to this new syndrome. However, closer analysis of these patients revealed that they were no more likely to have chronic Epstein-Barr virus infections than they were to have herpes simplex virus, measles virus, or cytomegalovirus. So, in an effort to play down the relationship between this new syndrome and any one specific viral cause, the CDC’s Division of Viral and Respiratory Diseases attempted to formerly classify the disease. Basing their report on the most common symptoms of the first thousand or so individuals, they released what was to be the first of many case definitions for a disease they renamed “chronic fatigue syndrome.”
The CDC case definition first proposed in 1988 has since fallen into the dustbin of medical history, having been replaced and reworked by several organizations over the last two decades. Even the name “chronic fatigue syndrome” has fallen out of use in some circles; CFS has been replaced by names like myalgic encephalomyelitis (ME), chronic fatigue immune dysfunction syndrome (CFIDS), and post-viral fatigue syndrome (PVFS). What has emerged is an extremely complex set of ideas about the exact characteristics of the disease. Several case definitions exist and are used as foundations of research, but there are several symptoms that are agreed upon by all parties:
- Patients experience incapacitating fatigue. Though this may vary in severity, it is especially profound after physical or mental exertion, a symptom dubbed “post-exertional malaise.”
- Flu-like symptoms such as muscle pain, sore throat, swollen lymph nodes, and poor sleep occur with varying severity and can persist or flare up repeatedly.
- Patients experience problems with concentration and memory, usually associated with fatigue.
- Symptoms must persist for at least six months (hence the term “chronic”) and cannot be explained by any other diagnosis, making CFS an exclusionary diagnosis.
Unfortunately, these symptoms are just the tip of the iceberg for most CFS sufferers. At its core, CFS is a syndrome, a set of related symptoms that do not necessarily stem from a single, unifying cause but are often seen to co-occur in a single patient. This means that although there is a generally agreed-upon set of indicative symptoms, patients may suffer from any number of additional problems ranging from depression and anxiety to gastrointestinal problems and recurring viral infections.
CFS as a Contested Illness
Because of its highly complex set of symptoms and its unknown etiology, the status of CFS as a legitimate illness is consistently reshaped and redefined by researchers, policy makers, patient groups, and the general public. As such, CFS has become part of a group of afflictions in the medical and anthropological literature that are described as “contested illnesses.” This includes other diseases like fibromyalgia, Gulf War syndrome (GWS), and multiple chemical sensitivities (MCS). Unlike most diseases, contested illnesses are those that represent recognizable symptoms without defined biomedical causes or diagnostic tests. These diseases all share common traits including broad, variable symptoms, unidentified biomedical mechanisms, disputed causation (usually between psychological and biological), and competing ideas about proper therapies/treatments. Their uniqueness also exposes contested illnesses to very strong social influence. Without strict definitions of a typical illness experience, patients’ own observations about their disease are highly subject to influence from doctors, family, the media, and fellow sufferers. Above all, contested illnesses represent a battleground for legitimacy in which concerned parties vie to shape public opinion of the disease in order to further validate their position on its definition and treatment.
The organization with the largest sway over the CFS sphere is undoubtedly the U.S. Centers for Disease Control and Prevention. Though the CDC spends less money annually on CFS than the National Institutes of Health (NIH), it is ultimately responsible for the official CFS case definition in the United States and is the only organization that allocates a significant amount of funding to public and physician awareness campaigns. As one of the most important CFS research organizations, the CDC is under constant scrutiny from patient groups and has received a great deal of criticism on various fronts.
“My … e-mail this morning was filled with articles and postings on a brand-new CFS study just released (but not yet published) by the CDC (believe it or not!)” – Sue Jackson, April 25, 2012
The current CDC case definition, developed in 1994, stipulates that patients must suffer from significant fatigue lasting more than six months that must be accompanied by at least four of six symptoms (concentration/memory impairment, sore throat, muscle/joint pain, swollen lymph nodes, headaches, unrefreshing sleep, post-exertional malaise). Because this definition offers strict minimum requirements for diagnosis without excluding patients that have additional symptoms, it has become the most widely used in the medical field.
However, the CDC’s set of criteria for CFS is not without competitors. The Public Health Agency of Canada and the National Institute for Health and Clinical Excellence in the United Kingdom have also contributed case definitions for CFS (more commonly referred to internationally as myalgic encephalomyelitis). An early set of criteria developed in the U.K. known as the “Oxford Definition” serves as a more inclusive alternative to the CDC definition as it does not eliminate patients based on co-diagnosis of major depressive disorder or other symptoms beyond fatigue. While popular with patients seeking coverage, the definition is too loose to be useful in research. Conversely, the Canadian case definition, developed in 2003 after a significant body of research had been compiled, is quite strict regarding the accepted symptoms of CFS. The result is a set of criteria that are much more biomedically focused, a boon for researchers seeking narrow patient populations but a hindrance for patients who may otherwise meet the criteria of other case definitions and are thus left without any diagnosis.
The debate over what qualifies as chronic fatigue syndrome is also closely followed by a large community of patient interest groups such as the CFIDS Association of America. Though patient interest groups can be found for almost any disease or disorder, they hold special importance for those suffering from contested illnesses. The debates over causation, treatment, and management of contested illnesses create numerous questions that researchers can attempt to answer, not all of which are seen as beneficial or cost-effective for patients, whose primary concern is relief of symptoms. Patient groups also take special interest in research that legitimizes their concerns and experiences through the assignment of biomedical markers and causes. By clearly defining CFS as a disease of known etiology, patient groups hope to eliminate the stigma that can be associated with psychological disorders.
Stigmatizing Practices
“If you have cancer you can tell your friends you have cancer and your friends understand. You cannot tell your friends you are tired. What are they going to say? ‘I’m tired too!’” – (Ware, 1992)
There exists a certain shred of doubt for most people when they discuss someone with a contested illness, especially one where psychosomatic symptoms may be confounding factors for patients trying to communicate their experience. So long as an illness remains “medically invisible,” it can be dismissed as psychosomatic, and therefore less real than physical diseases. For CFS sufferers in the late 80s and early 90s, the stigmatization of their disease was based largely on lack of knowledge. The general public had little information about the disease and physicians had few guidelines for making a diagnosis. This led media accounts and even research articles to address CFS sufferers as malingerers whose disease was merely an expression of the stresses of modern life, an idea that survives 20 years later. Newspaper and television accounts were also quick to play up the derisive name “yuppie flu,” a pattern that U.K. psychiatrist Simon Wessely explains well in an interview in Nature with his observation that “polarization and antipathy always make for better media coverage than consensus and collaboration.” Even practiced psychiatrists considered CFS to be no different than the nineteenth century disorder neurasthenia, a phenomenon now seen as a cultural diagnosis that reflected changes in wealth and gender roles. CFS patients feel that this attitude persists, providing accounts of friends and family who see the disease as just a manifestation of psychosocial problems:
“We’re not depressed, we’re sick! And if we are depressed it’s because we’re sick!” – (Ware, 1992)
Despite evidence that shows no difference in the illness experience of men and women with CFS, the disease has remained strikingly gendered, with women making up more than 60% of the patient population. Reasons for this unbalanced level of diagnosis are unclear but many experts speculate that the cause is either under-diagnosing of male patients or due to changes in diagnostic trends. Either way, sex-biased diagnosis of CFS is a source of additional stigma because of a strong cultural association between women and psychosomatic disorders. In her excellent review of stigmatization and CFS, Norma Ware discusses how “the tendency in professional medicine to discount the complaints of women” leads to greater assignment of psychiatric disorders which in turn leads more doctors to dismiss complaints of women in the future. Also, the uneven pattern of occurrence between men and women undermines legitimacy in the eyes of the general public who usually view disease (especially infectious disease) as an equal-opportunity problem. Furthering this idea is the lack of CFS diagnoses among the young. Sue Jackson brought up this problem in recent testimony for the NIH’s CFS Advisory Committee:
“Although research funding for ME/CFS in general is severely lacking, funding for research into pediatric ME/CFS is practically non-existent. There hasn’t even been a complete population study done on the incidence of ME/CFS in children and teens.” – Sue Jackson, Written testimony, May 11, 2011
The failure to address a disease’s impact in adolescents is a grievous problem that would simply not be tolerated in the case of non-contested illnesses. Whether or not cases of CFS in children are rare or merely under-diagnosed remains to be seen.
For patients, negative public attitudes towards CFS can create problems when discussing their illness with friends and family, but the majority of patients in a 2009 survey indicated that their greatest needs all involved receiving respect, empathy, and information from their healthcare providers. Doctors who were either unaware of the symptoms of chronic fatigue syndrome or dismissive of CFS as a real illness left patients with enormous emotional burdens and without any other means of accessing care. Some of this problem no doubt emerged from the lack of reliable data on CFS in the late 80s and early 90s, but more recent surveys of health care provider knowledge about CFS have shown that most physicians (96%) are at least aware of CFS and its general symptoms.
Instead, the stigmatizing practices seen in clinical settings appear to stem from the attitudes of health care workers. Contested illnesses put a high burden on physicians who must work very closely with patients to develop treatment strategies in a perceived vacuum of knowledge. Creating these highly individualized structures of care can be stressful for physicians not familiar with chronic fatigue syndrome. Sue Jackson points out in one blog post that part of the problem is the uniqueness of the experience:
“Yes, I am feeling exhausted and achy, but it’s not those physical symptoms keeping me from doing anything. It’s a total lack of mental energy. This is something almost impossible to describe to healthy people (including doctors), unless perhaps they have recently experienced a bad flu.” – Sue Jackson
Some physicians (and patient groups for that matter) argue that the lack of clear diagnostic criteria leads many patients to “hop on the bandwagon” of CFS when they exhibit any of the associated symptoms, a practice that undermines the legitimacy of true CFS cases, overburdens physicians who now have to manage even more ‘special’ cases, and could lead patients with purely psychological disorders down the wrong treatment paths. Such conflicts can help explain why in a recent survey, 20% of physicians that have made a CFS diagnosis in the past still agree with the statement, “CFS is all in a patient’s head.” Though these negative attitudes among health care providers are on the decline thanks to education and awareness programs, the conflicts between patients and physicians are unlikely to fully resolve without clear biomedical markers or treatments that eliminate the contested nature of the illness.
Stigma and Confusion: Barriers to CFS Research
The absence of biomarkers can be felt most heavily in epidemiological research into CFS. Without clear biomedical indicators, diagnosis remains entirely up to a physician’s discretion. This could mean that actual cases of CFS within geographical regions are significantly under or over-reported depending on trends in diagnosis. For example, a comparative study of the U.S. and Brazil found similar rates of chronic fatigue in both populations but Brazilian physicians were much less likely to make a diagnosis of CFS, choosing instead to simply diagnose patients with “unexplained fatigue.” Similar problems occur frequently in the United States, where the biggest point of confusion for doctors is how to include psychiatric problems in the decision to diagnose. Under current CDC recommendations, as many as 38% of patients with major depressive disorder (a diagnosis that should exclude them from a CFS diagnosis) still meet the criteria for chronic fatigue syndrome. Patients with undiagnosed major depressive disorder thus can cause over-reporting of CFS, even if they show classic CFS symptoms.
The most widely accepted estimate of CFS in the United States is that there are approximately one million individuals suffering from the disease, a number six to 10-fold higher than earlier estimates, but lack of consensus means that this number is unreliable at best. This failure to accurately convey the scope of the disease threatens funding of future prevention and education initiatives as public health officials struggle to justify the bankrolling of programs that may or may not be reaching the poorly defined target population.
The problem of a clearly defined sample population is also a major hurdle to biomedical research where reproducibility of results is critical. Failure to replicate an experimental result completely undermines a study’s validity, especially if the end goal is a diagnostic technique. For this type of CFS research, the problem of choosing and applying a case definition can limit sample size in a way that reduces significance and creates practical barriers to conducting research. On the other hand, applying the case definition in a way that includes more patients in the sample population leads to issues of reproducibility. Piled on top of these problems is the issue of researching a disease with a wide range of symptoms and potentially multiple etiologies. This raises important questions about how research into the causes of CFS is conducted and funded. If there truly are multiple etiologies of CFS, as is generally accepted, then every study into the causes will require very strict analysis of patient data and continued follow-up studies that reach far beyond simple reproduction of results.
While CFS research occurs at hospitals and universities around the country, the brunt of research funding is funneled into the National Institutes of Health which spent $6.3 million on CFS research in 2011. While this seems like a lot of money, consider that in the same year the NIH spent roughly $11 million on fibromyalgia, a similar contested illness, and nearly as much money ($4+ million) on Batten Disease, an extremely rare genetic disorder. Some highlights of NIH spending include:
- $700,000 was spent continuing the investigation of the relationship between CFS and XMRV, now proven to be unrelated.
- $1 million (1/6th of the total spending) was for expansion of a single clinic at Columbia University Hospital.
- ~$900,000 spent on treatment/management but only one $36,000 study involved drug-based treatment strategies (use of Viagra to alter fatigue).
Research-oriented patient groups like CFIDS Association of America and the Wisconsin ME/CFS Association have argued that this pattern of funding is inadequate to advance our knowledge about the disease in any manner that is relevant to patients. Over the past ten years, funding for CFS research has dropped significantly, a pattern that discourages new research projects, even in light of potential new discoveries like the XMRV connection. They also argue that a significant number of projects classified as CFS research were not primarily focused on the disease.
CFS spending at the CDC in the same year totaled $4.6 million, down from previous years. Though the CDC does not release spending information on specific projects, the studies released in 2011 show that the organization is moving away from research on the psychological origins of CFS and instead focusing on projects related to genetic causes and public awareness. This shift in focus reflects the enormous pressure patient groups have been placing on the agency in the past decade.
But why do patients have to be advocates for CFS research? One reason is the aforementioned lack of funding. Limited and shrinking CFS grant money from the NIH and CDC drives researchers away from what they view as an unsustainable field. Thus, the patients seeking relief must rely on outside collaboration to educate themselves, inform health care providers of their needs, and push for more research funding. This has led to several emerging means through which sufferers of contested illnesses strengthen their influence. Some seek to change the system from within by including structures such as “patient schools” in treatment programs. These schools, implemented in Northern Europe and the U.K., act as both support groups and continuing educational programs. Patients are also finding hope online in electronic support groups. As patients discuss their shared experiences, they not only help to spread knowledge about their disease but they also spread opinions about proper treatment that may disagree with physician recommendations. This has led to a significant rise in online patient-consumers, groups who seek to create medical interventions in the face of skepticism or denial of scientific validity from researchers. There exists the line of logic that if a marketable CFS treatment is created, it will legitimize the disease in the eyes of physicians and the general public.
For now, the CFS problem becomes a bit of a catch-22. Without conclusive research, doctors’ attitudes regarding CFS will remain skeptical and cautious. At the same time, the ambiguous nature of each individual diagnosis and the lingering questions about the proper treatment method make the impartial study of CFS extremely difficult. The compounded effect of public opinion on the ability to research obtain funding creates an immobile field of study in which stigma and confusion prevent new discoveries. Patients must therefore fight to legitimize their illness in the public eye in order to procure more funding, an effort that struggles without sufficient research into biomedical explanations for CFS. Thus patients also experience the circular problem of garnering support for research without data to justify the funding of future studies. It’s a brutal cycle, but one that can be faced with optimism:
“Granted, scientific progress often moves at a glacial pace – every single hypothesis has to be tested multiple times in multiple ways, but important advances are being made in every area of study. I think there is a lot of reason for hope.”
–Sue Jackson, April 9, 2011
For more insight into CFS check out David Tuller’s piece “Chronic Fatigue Syndrome and the CDC: A Long, Tangled Tale” and Norma Ware’s “Suffering and the Social Construction of Illness: The Deligitimation of Illness Experience in Chronic Fatigue Syndrome.”
Contributing Writer Emeritus
Boston University School of Medicine
Jacob Walker is a member of Boston University School of Medicine's class of 2016. Jacob's passions can be hard to pin down but lie somewhere in the intersections of geriatrics, infectious disease, public health, and game design.
