Chapter 2
Symptoms and Diagnosis

After years of debate over whether doctors dealing with mysterious outbreaks across the country were all seeing evidence of one common disease, there was finally some consensus reached with the 1994 publication of the Centers for Disease Control and Prevention's (CDC) revised case definition of chronic fatigue syndrome (CFS). But even at this point, diagnosing CFS remained a problem for many reasons. Primarily, since the question of a cause was still unresolved, there was no single test to perform that could yield a clear positive or negative result for CFS. As Dr. David S. Bell explains: "The mark of modern medicine is to jump to the lab test that will give the answer in the least amount of time.… This approach simply does not work with the CFIDS patients."¹⁰

Even when a physician examines a patient while giving careful consideration to the CDC's criteria for diagnosis of CFS, obstacles remain to making that determination. "The CDC case definition is not always a useful tool for clinicians," argue Erica F. Verrillo and Lauren M. Gellman in their book Chronic Fatigue Syndrome: A Treatment Guide. "Unfortunately, a significant proportion of patients with CFIDS do not meet these rather rigid criteria."¹¹ Commenting further on the limitations of the CDC definition, Katrina Berne, an experienced clinician and CFS patient herself, explains that "criteria are assessed at only one point in time, based only on presence but not severity of symptoms. Individuals who do not have 'new or definite onset' (vague terms) are excluded. Symptoms must begin after the onset of fatigue, yet this is not always the case in CFS.… One perplexing flaw is the lack of definition for fatigue and an inability to assess it."¹² In other words, the case definition sets a certain standard that doctors have found does not always apply to all patients who fit the profile of a CFS patient, and at the same time the definition does not provide a way to measure the actual degree of symptoms, such as fatigue.

With all of these challenges facing a doctor attempting to determine if a patient has CFS, making the diagnosis depends heavily on an intense and subjective observation of symptoms on the part of the patient and doctor.

Symptoms

A focus on the symptoms of CFS can itself be complex, because there is a vast list of possible symptoms, and not every patient experiences every one or to the same degree of severity. But certain symptoms must be present before a doctor arrives at a CFS diagnosis. The first is extreme fatigue, to the point of near-constant exhaustion—not simple tiredness from physical activity or mental effort. As Greg Charles Fisher, who has suffered from CFS for years, explains: "CFS fatigue is to end-of-the-day tiredness what lightning is to a spark."¹³ Furthermore, this fatigue does not improve with rest and is worsened by any kind of exertion. Accompanying this fatigue is often a feeling of malaise or general ill health and something patients and doctors call "brain fog," which results in the CFS sufferer having trouble concentrating and staying alert.

Other common symptoms resemble those of the flu, including sore throat, muscle weakness and joint pain, swollen or tender lymph nodes and low-grade fever. "After years of health, sound nutrition and a rigorous exercise regime, I was stricken quite suddenly with an ailment I decided was the flu," Hillary Johnson relates in her Rolling Stone article.

Yet nearly a month passed without improvement. In fact, I was getting worse.… An appalling weakness, on most days, prevented me from walking. I soon was unable to stand long enough to take a shower; my arm ached from the effort required to brush my teeth. My hand coordination seemed affected; I had difficulty picking up small objects. My head felt swathed in cotton.¹⁴

People with CFS also experience severe headaches that are different from any headaches they had in the past. These headaches often resemble migraine headaches, which cause nausea and sensitivity to light and noise along with pain. Some patients report a sensation of unrelenting pressure at the base of their skulls, or intense pain behind their eyes.

Numerous other symptoms are possible, involving—to name just some—sleep disturbances such as vivid nightmares and night sweats, panic and anxiety disorders, cardiac irregularities, skin problems such as rashes, abdominal pain and intestinal disorders such as irritable bowel syndrome, and bladder disturbances such as a frequent need to urinate and pain with urination.

There is a general, though not universal, pattern wherein patients are stricken first with fatigue and flu-like symptoms, the latter of which ease over time as other symptoms, particularly the cognitive difficulties, appear and become more disruptive.

Because there is such a broad range of possible symptoms, it sometimes takes patients and doctors longer to realize that all of the problems are connected to one another and part of a single disorder. "I was ill for many months before I realized that seemingly unrelated symptoms were part of the same disease,"¹⁵ Johnson shares.

Symptoms in Children

If the symptoms of CFS in adults present a challenge to a physician attempting a diagnosis, they can be even more challenging when the victim is a child or adolescent. While CFS is diagnosed less frequently in children and adolescents—and is very rarely diagnosed in children under the age of eight—the disease also has a recognizable symptom pattern in young people. Children complain of flu-like symptoms that persist for much longer than a typical case of influenza; they report having headaches, fevers, swollen glands, upset stomachs, and pain and weakness in joints and muscles. "I was in such severe pain sometimes I would just lay there and cry, unable to move,"¹⁶ shares Beth, who asked that her last name not be used, and who became sick at age thirteen. Most of the symptoms in children are similar to what adults experience, although there are some key differences. According to Bell:

One striking difference is that in children the numerous symptoms appear to be almost equally severe. In adults it is common to hear that certain symptoms are always the most severe, but children may state that sore throat and headaches are the worst symptom one day, followed the next day by lymphatic and abdominal pain. This rotation in symptoms is frustrating [for a doctor attempting to make a diagnosis], for just when the pediatrician is about to begin an evaluation of the headaches, they may improve, replaced by joint pains as the most severe symptom.¹⁷

Adults and children with CFS also tend to experience the neurological and cognitive symptoms differently. Typically, these symptoms are less severe in children. However, even if the symptoms themselves are not as noticeable, their effect can bemore severe in someone whose mind is still developing. As Bell explains: "Adults have a clear perception of their abilities, so that memory loss and inability to concentrate are easily recognized. Children are less sure of their abilities, and these symptoms manifest as progressive school difficulties."¹⁸ In other words, children and adolescents with CFS might not report confusion or problems with memory loss and brain fog, because they do not even realize these problems are abnormal; they often attribute their difficulties to a lack of intelligence. Because their patients may not notice or report such symptoms, pediatricians must look for signs such as slipping grades and overall decreased success in school to discern the cognitive problems that signify CFS.

Another Explanation?

CFS symptoms can be found in a variety of other disorders, all of which need to be carefully ruled out since effective treatment depends on accurate diagnosis. When confronted with a patient—either adult or child—reporting a constellation of symptoms resembling those of CFS, a doctor's first step is to eliminate the possibility of other diseases that could also cause these symptoms.

Depending on a particular patient's overall health picture, family history, symptoms, and initial test results, doctors might check for a variety of conditions in adults: rheumatoid arthritis, allergies, a malignancy (particularly lymphoma), fibromyalgia, multiple sclerosis, multiple chemical sensitivity disorder, systemic lupus erythematosus, or a mental illness such as depression or panic disorder. They might also look for an infectious disease, such as Lyme disease, and/or a chronic inflammatory disease, such as sarcoidosis.

The list of alternative diagnoses is just as long among children, although there are some differences in the conditions that top the list. Since gastrointestinal symptoms are often more severe in children, pediatricians must consider and eliminate intestinal diseases such as Crohn's Disease, celiac disease, and ulcerative colitis. These illnesses can affect adults as well as children, but typically an adult with CFS does not report the same type of gastrointestinal symptoms that a child with CFS does. Food allergies, attention deficit disorder, and childhood migraine syndrome might also be considered in children.

Finally, the rotation of symptoms such as a throbbing headache one day and achy joints another may indicate that the illness is simply the result of emotional distress caused by school phobia (fear of school) or separation anxiety disorder (extreme fear of being away from one or both parents).

Making the Diagnosis

Diagnosing CFS can be a complicated and daunting task, due to the long list of symptoms and numerous possible explanations for those symptoms. But it is possible to make the diagnosis; it just takes a good deal of persistence and effort on the part of both the doctor and the patient. Many patients report having waited years to receive a diagnosis and visiting multiple physicians before finding one who identifies the problem.

Of course, part of the reason a CFS diagnosis can take so long is that excluding other possibilities is complicated and involves many different tests, some of which are painful and can be expensive. Meanwhile, waiting for results from such tests can be extremely stressful and frightening for the patient. "Like a teenager awaiting a prom invitation, I sat near the telephone waiting to hear whether I had a brain tumor, hypoglycemia, heart problems, multiple sclerosis, or an ulcer," Berne relates. "Initial relief at knowing what I didn't have was quickly replaced with fear of not knowing what I did have."¹⁹ Complicating the diagnostic process further is the fact that some of the disorders with similar symptoms are themselves diagnosed by excluding other possibilities, since these conditions also do not yet have effective diagnostic tests. Furthermore, since it is possible that a patient suffers from more than one disease, a diagnosis of a different disease does not absolutely rule out the possibility that the patient suffers from CFS as well.

Of course, a thorough study of the symptoms plays the most important role in diagnosing any illness. What complicates diagnosing CFS still further is that so many of its symptoms lack objective descriptions. For instance, the degree of exhaustion can be affected by how patients perceive their own feelings. Two people might both use the word "exhausted" to describe how tired they feel, but they could mean it in different ways. Whereas one patient considers himself exhausted if he can only finish one mile of his daily three-mile run, another patient's exhaustion might keep her from engaging in any strenuous physical activity at all. Even this difference has to be looked at in the context of an individual's lifestyle; the fact that one person is capable of less physical activity than another does not necessarily mean that only one of these two patients has CFS. Moreover, not every CFS patient is totally incapacitated by the illness.

For this reason, doctors need to obtain a full patient health history in order to understand what the reported symptoms mean both objectively and within each patient's life. It is crucial that doctors get the clearest picture they can of how each patient's ability to function has been impaired. As Bell explains: "The physician must return to sound clinical medicine, taking a complete medical history and listening to the entire range of symptoms in order to observe the underlying pattern."²⁰ In practical terms, this means spending more time with a patient—and time is something that modern physicians do not have in abundance.

Given the reality that doctors are often rushed, the patient must take extra care to offer a detailed health history. This can pose its own set of challenges, since not all patients can remember or communicate every important detail of their illness. Along with giving a specific and in-depth impression of the symptoms themselves, patients can help doctors with their account of how and when they became sick.

Unlike many chronic diseases, CFS is often characterized by abrupt onset, meaning the patient can pin down an exact moment when he or she became ill. This is not always true, however, as recent research has revealed that on reflection, many patients can recall a period of mild weakness or other symptoms leading up to the onset of severe illness. But the ability to identify an abrupt downswing into being very sick, very suddenly, supports a diagnosis of CFS, which is why the factor of "new or definite onset" of fatigue is even included in the CDC's definition of the syndrome.

Yet, frustratingly, CFS does not strike everyone suddenly. In particular, while older adolescents tend, like adults, to develop symptoms abruptly, younger patients—those who have not yet gone through puberty—usually develop the disease more gradually. For these young patients, doctors focus more on the presence of a range of symptoms typical in children with CFS, such as recurrent sore throat, muscle pain, headache, and abdominal pain.

To make the diagnosis in children, doctors must also exclude the other possible causes of symptoms as they would do with an adult patient. Again, the children's reports of symptoms, severity, and timing are crucial to this process. It can be even more difficult, however, for physicians to receive an accurate and full-symptom report from children than from adults. Often, doctors rely heavily on observations made by parents and teachers and noticeable changes in behavior to supplement a child's own description of the problem.

Because children with CFS usually notice different symptoms from day to day, pediatricians often give special consideration to alternative explanations for symptoms, such as school phobia and separation anxiety disorder. Bell, for one, suggests that it is easy to rule out the former of these two: "In school phobia, children do not want to go to school … and they will invent ways to avoid it. Therefore, because of the anxiety about going to school, a child might have a stomachache and not 'feel well' at 7:30 on a school-day morning. But these complaints are never expressed in the afternoon, when school is over, or on Saturday morning."²¹ On the other hand, a child suffering from CFS will feel too exhausted to leave bed whether the destination is school or a desirable location such as an amusement park. Other experts note that the method of excluding separation anxiety disorder is basically the same. Verrillo and Gellman say, for example, "[c]hildren with separation anxiety display symptoms when anticipating separation but which resolve when separation does not occur."²² However, children with CFS will complain of symptoms such as headaches and sore throats whether their parents are leaving their side or not.

Supporting a Diagnosis

When the symptoms fit the accepted pattern for the patient's age group and last for at least six months, and when other possible explanations have been eliminated, a knowledgeable doctor can make the diagnosis of CFS. Also, while no test can diagnose CFS, there are studies emerging that suggest certain abnormal lab results can support a diagnosis, because these results have been found commonly in patients believed to have CFS. For instance, people with CFS tend to test positive for certain types of viral infections, including cytomegalovirus, Epstein-Barr virus, human herpesvirus 6, and Coxsackie virus. Their bodies also often react unusually to physical exercise. Studies have found that, unlike in healthy individuals, CFS patients' levels of the stress hormone cortisol will drop after exercise and cerebral blood flow will decrease. Furthermore, while the ability of a normal person's body to utilize glucose improves after exercise, this is not usually the case for someone with CFS. Finally, there are some specific abnormalities found with the immune system function of CFS patients, including low levels of natural killer cells, which are specialized blood cells that are the first line of defense against viruses and other invaders to the body.

The diagnostic process for CFS tends to be a long and complicated one, and patients often experience a degree of relief after finally hearing an answer to what is wrong. However, the challenges and complications a CFS patient faces do not end after receiving a diagnosis.