Exhausted: Why can't we figure out chronic fatigue syndrome?

Eight years ago, collapsed on a neurologist's examining table, I asked a naive question that turned out to be at the center of a long-running controversy: “So what is chronic fatigue syndrome?” I had just been diagnosed with the illness, which for six years had been gradually overtaking me.

A week earlier, I had woken up barely able to walk. Fatigue hardly described what I felt. Paralysis was more like it. My legs seemed to have been amputated and replaced with tubes of liquid concrete, and just shifting them on the table made me grunt like an Olympic weightlifter. My bones hurt; my brain felt like a swollen mass. Speaking required tracking down and spearing each word individually as it scampered away from me. I felt as capable of writing an article about science — my job — as of killing a rhino with my teeth.

“We don't understand it very well,” my neurologist said, his face blank. He could recommend no tests, no treatments, no other doctors. I came to understand that, for him, the term chronic fatigue syndrome meant “I can't help you.”

My neurologist's understanding of the illness mirrored that of many doctors, who believe two things about CFS: that it's probably psychosomatic and that there's nothing doctors can do for it. One survey found that nearly half of doctors thought that CFS was or might be psychosomatic, and 58 percent said there wasn't enough information available to help them diagnose it.

An examination of medical textbooks found that CFS was underrepresented, even compared with less-prevalent illnesses.

A study published in March reported that some doctors have little understanding of the condition and are skeptical that it exists. Researchers and clinicians specializing in the illness argue that science long ago showed that the disease has a biological basis and that there are treatments that can help, though not cure, it. Because of doctors' lack of knowledge, patients don't get the help they need, but they often feel they get a helping of scorn.

For example, Laura Hillenbrand — who went on to write the best-sellers “Seabiscuit” and “Unbroken” — came down with the illness at age 20 and, finding herself unable to read, speak coherently or stand up, took a leave from college. Her internist sent her to a psychiatrist, told her the symptoms were those of puberty and wrote in her chart, “Couldn't handle school. Dropped out.”

A big part of the reason patients don't get the help they need goes back to my question on the doctor's table: What is CFS? There is no single, widely accepted definition of the illness, and some are so broad that patients under the CFS umbrella can have almost nothing in common with one another. This disparity stumps doctors, leading them to consider the illness psychosomatic.

Recent efforts to address the problem have led to infighting, with patients and experts arguing that the effort may only lead to further confusion. Last year, the Department of Health and Human Services commissioned the Institute of Medicine to develop yet another definition of the illness for clinicians. But about 50 doctors and researchers who specialize in CFS revolted and wrote to HHS requesting cancellation of the contract. Hundreds of patient advocates wrote to HHS to support them. The specialists argued that the $1 million effort was wasteful and poorly planned and that HHS should simply endorse the definition these experts had already created. Spend the money on research instead, they argued.

“We chose the Institute of Medicine because it is the gold standard for recommendations in the medical field,” says Nancy Lee, HHS's deputy assistant secretary of health, “and it has credibility and reach that nobody else does.”

HHS continued with the contract, and the final report is expected in early 2015.

This is just the latest clash in a long string of disputes between federal agencies and the CFS community that have hamstrung efforts to understand a disease that, according to a 2008 economic analysis, costs the nation as much as $24 billion each year.

At the time of my diagnosis, I was focused on learning to cope, not on the politics of CFS. A couple of weeks after seeing the neurologist, I felt well enough to venture to the grocery store. By the time I put the bags in the car, though, I was quivering with exhaustion. That night, I was too weak to turn over in bed. Overexertion, I realized, was my enemy. So I began a program of aggressive rest, and, gradually, I got stronger.

But over the next five years, I got worse again, then better, then worse. I consulted doctors, but they couldn't help much. Each time I was stuck in bed, I scoured my activities, my diet, my environment, seeking a reason for my misery. I finally gave up the search, saving my scarce energy and money for living my life. I worked when I could and rested when I had to.

Then in 2011, I disintegrated. Day after day, I couldn't get out of bed, couldn't work, couldn't even focus my eyes to read a novel. I flew to the University of Miami and staggered into the office of Nancy Klimas, an immunologist and CFS expert. She smiled and said, “Your legs aren't working too well for you there! We should be able to get you feeling better.” I nearly cried.

She told me that although CFS didn't yet have a cure, she and other researchers had discovered quite a bit about it. At that time, many thought a retrovirus called XMRV might be the cause. Klimas was skeptical (and soon thereafter the theory was disproven). Regardless, she told me, she and other researchers were certain the illness wasn't psychosomatic. The physiological abnormalities in CFS patients were too consistent for that.

She soon confirmed those patterns in me: Some parts of my immune system barely functioned, while others were in overdrive. Several viruses had become reactivated in my body, causing mischief long after the initial infection was past. My heart couldn't pump enough blood to my brain when I stood up: After six minutes of standing still, my blood pressure plummeted to 80/52, my heart raced and I begged to lie down lest I vomit or pass out.

Klimas couldn't cure me, but she helped. She gave me immune modulators so my immune system wouldn't overrev as though I were fighting an eternal flu. She worked to improve my sleep, suggesting a monitor to study my patterns. She prescribed beta blockers to steady my heart rate when I stood. The most effective treatment was astonishingly simple: Gatorade. Electrolytes increased my blood volume — typically 20 percent low in CFS patients — thereby stopping my blood pressure from dropping so dramatically. She also aggressively monitored me for cancer, since my natural killer cells, the immune system's main cancer assassins, barely functioned, as is common in CFS patients.

I improved enough to work a little bit, and it was a tremendous relief to have a knowledgeable and compassionate doctor behind me. Still, Klimas (who also treats HIV/AIDS) says that if she had to choose between having HIV and having CFS, she'd unquestionably choose HIV.

I was fortunate to get such competent care. There are perhaps a couple of dozen U.S. specialists to treat the 1 million Americans with CFS, and most non-specialists are as hamstrung by lack of knowledge about the illness as the neurologist who diagnosed me.

That's the precise problem that HHS says it is trying to solve by having the Institute of Medicine create a new definition for doctors. A recommendation from this prestigious body is what is needed, HHS says, to educate rank-and-file doctors about the illness.

Many CFS activists and researchers have grown suspicious of the federal agencies, however. They say that the Centers for Disease Control and Prevention has exacerbated the definitional muddle, having contributed to the creation of multiple, broad definitions for the illness.

These varying definitions have not only confused doctors; they've also made a hash of the research, with different studies analyzing patients who may have nothing in common. The name “chronic fatigue syndrome,” which became widespread after the CDC endorsed it, has also reinforced skepticism about the illness. After all, aren't we all chronically fatigued? (The Institute of Medicine has also been charged with recommending whether the name should be changed.)

Furthermore, the National Institutes of Health spends only $5 million a year on CFS research; by comparison, it spends $3 billion on HIV/AIDS research (which, like CFS, affects about a million Americans). Mariela Shirley, an official at the NIH Office of Research on Women's Health, says funding is determined by the number of researchers in a field, their experience in competing for NIH funding and other factors.

HHS' handling of the latest controversy has only intensified skepticism. The majority of committee members chosen to develop the new definition have no professional experience with the disease, says Derek Enlander, a CFS specialist at Mount Sinai Hospital in New York. As he put it, “Do you want a podiatrist to treat your grandfather with lung cancer?”

In addition, Klimas told me, “I'm afraid they're about a year early.” If HHS had waited, she said, the agency could have developed a definition grounded in data. Several large studies (including one by the CDC) are collecting tissue from more than 1,000 patients and controls, looking for biological indicators that most effectively distinguish the two groups.

Without that evidence, Klimas said, a committee might dismiss the results of the many small studies that point toward such indicators — a dismissal that could lead to yet another broad, confusing definition.

(Klimas, now at Nova Southeastern University in Fort Lauderdale, Fla., accepted a position on the committee after she was interviewed for this article.)

These disputes are heartbreaking when the needs of CFS patients are so great. Even the high-quality treatment I got from Klimas helped me only slightly. A year after I saw her, I heard from some patients who had significantly recovered from CFS through assiduously avoiding exposure to mold and other environmental contaminants. Although I considered the theory wacky, I was desperate enough to experiment. And for me, it worked. Two years later, I can go running, write articles and travel with my new husband. Every time I do, it feels like a miracle.

But I don't think it is. My recovery has almost certainly come through physiological changes in response to my avoiding mold.

After spending two weeks in the desert with none of my own stuff to get clear of toxic molds, I found when I returned that my own home and belongings could cripple me within minutes. By staying away from any building or object that made me sick, I felt dramatically better and got healthier over time.

The role of mold in CFS has received nearly no scientific study, just like many other promising areas of research in the illness.

Yes, we need a sound, accepted definition, but we also need so much more. It's time to treat patients with respect, to move beyond political squabbling and to make an investment in researching this illness that is in proportion to the devastation it causes.