My symptoms were dismissed for years before I got a diagnosis. Soon, there could be a blood test.

By Hayley MacMillen
May 08, 2019 04:53 PM

I cried the spring day three years ago when I was diagnosed with chronic fatigue syndrome, not out of sadness but relief. It may have been the beginning of the rest of my life as a CFS patient, but it was the end of a mystery I had struggled with for years: namely, the mystery of why I felt like shit so much of the time.

As I shared the news with family and friends, giddy with validation, I tried to explain why I was celebrating. CFS, also known as myalgic encephalomyelitis, is a poorly understood, often debilitating disease with no approved cure. The medical community isn't even settled on what to call it: Some are pushing for a rebrand to "systemic exertion tolerance disease"to combat the misconception that CFS involves run-of-the-mill fatigue. But all the same, why wouldn't I be overjoyed to have a label for the thing that had settled into my body like a fog in my college years, sapping my energy, swelling my lymph nodes, and twisting my muscles into painful knots?

Reading up on the symptoms that can accompany CFSwas like looking into my medical file. It was all there: the muscle pain, the brain fog, the unrefreshing sleep, those swollen lymph nodes, the "crashes" or "flare-ups" that knock sufferers flat with exhaustion for days or weeks at a time. There was a reason my body did the things it did, a reason with a label medical professionals recognized. My diagnosis was cold, hard proof that I wasn't lazy or hysterical, and I definitely wasn't just "tired": I was sick, full stop.

It had taken years for a care provider to think to refer me to a CFS specialist. My case is on the milder end of the spectrum of the disease, as some patients are bedboundor completely unable to work, but those who are more severely affected aren't guaranteed answers, either. There are some 836,000 to 2.5 millionpeople with CFS in the U.S., of whom 60 to 65 percent are women. Researchers believe that the majority of sufferers are undiagnosed, with some estimates putting the figure as high as 91 percent. That's partly because up until now, there has been no standard biological test for the syndrome. My diagnosis required that a medical professional take my symptoms seriously, and not much else.

The percentage of undiagnosed sufferers could drop if the early success of a new blood test, the subject of a recent paper out of Stanford, is confirmed. The test is based on a potential biomarker that distinguishes healthy individuals from those with CFS. By measuring how immune cells and blood plasma react to stress, it correctly flagged each of the 40 research participants with the syndrome and none of the healthy ones. This is big news: CFS diagnosis is currently one of exclusion, meaning that when nothing else explains a patient's symptoms, her doctor may conclude she has CFS.

Those symptoms includeat least six months of profound, unexplained fatigue; post-exertional malaise, meaning a worsening of symptoms after physical or mental exertion; unrefreshing sleep; and either cognitive impairment, such as attention deficits, or orthostatic intolerance, feeling worse when you're upright than when you're lying down.

Because symptoms "cross traditional medical specialty and subspecialty boundaries," CFS can be especially tricky to diagnose, says David M. Systrom, MD, an internal medicine and pulmonary disease physician at Brigham and Women's Hospital who specializes in ME/CFS. He describes the symptoms as both "waxing and waning" - their intensity rises and falls over time - and "nonspecific," meaning they could be the product not only of CFS but of another condition. You might see a psychiatrist for your attention deficit problems, a sleep medicine specialist about your unrefreshing sleep, and an orthopedic physician for your unexplained joint pain, all without ever tracing these issues back to a single disease.

It also doesn't help that historically, many medical professionals have refused to acknowledge the existence of CFS. Even today, some still view the condition as purely psychosomatic rather than physical, despite an ever-expanding body of evidence to the contrary. When I ask Dr. Systrom what he sees as the most common misconception about CFS, he answers simply, "That it is not a real disease."

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But imaginary diseases don't have biomarkers. "We clearly see a difference in the way healthy and chronic fatigue syndrome immune cells process stress," the Stanford paper's senior author Ron Davis, PhD, said in a press release, calling the results "scientific evidence that this disease is not a fabrication of a patient's mind."

A lot needs to happen before his team's blood test is widely used. Forty participants is a tiny sample size and may not predict success in a larger cohort of study participants, which the team is currently recruiting. Other experts caution that it's too soon to celebrate, calling for more research into whether this blood test can differentiate CFS patients from patients with other fatiguing conditions.

Although this could take years, the Stanford team is hopeful: Given the test's performance so far, they "envision it has the potential to be widely employed in other research laboratories and clinics in the near future." This could mean that thousands of as-yet undiagnosed sufferers wouldn't face the years-long wait for a diagnosis that I did. While treatment for CFS is not yet standardized, diagnosis is the first step to developing a treatment plan that might involve not only medication but lifestyle adjustments, mental health care, and community with other patients.

In the absence of a diagnosis, it's not just care providers who may dismiss or downplay symptoms: CFS sufferers themselves may come to doubt their own pain. I know from experience. Before my diagnosis, my body had been feeling heavier and my mind slower than usual when my partner encouraged me to see another doctor. "It's not going to do anything," I shot back. "No one knows what's wrong with me." "Please just do it," he said. "Please try again."

By then, I was wondering if a mental health problem could explain how I felt, as one provider had suggested to me. (Depression can cause crushing fatigue, and CFS is often misdiagnosed as depression.) And then there was the awful, creeping suspicion that maybe, just maybe, I had been exaggerating my symptoms to myself. Maybe what I was going through was in my head, not my body. After all, when I said I was tired, what I usually got was solidarity, not concern. Everyone else was tired, too; no one else was sleeping enough, either. Sure, my "tiredness" felt more like the flu and a hangover combined than the consequence of a bad night's sleep. But others had shrugged off my symptoms for long enough that I had started to do the same.

Still, I capitulated and made yet another primary care appointment. One more time, I rattled off my symptoms to the nurse practitioner. "But it might be nothing?" I concluded, shrugging. She looked at me. "I'm going to send you to a CFS specialist," she said, writing the referral. "It's worth looking into."

It wasn't until I walked out of that specialist's office as a newly minted officially sick person, weirdly happy tears running down my face, that I realized how much a diagnosis meant to me. Not only did it lead me to treatment - the medication, supplements, IV therapy, and B12 injections that have controlled my symptoms over the past three years - it reminded me I can trust my perceptions of my symptoms. Access to care, of course, also requires doctors' trust in patients' self-reported symptoms, and that's something so many women still struggle to come by. Gender continues to influence whether patients are taken seriously, as providers are still more likely to see women than men as unreliable narratorsof their own symptoms. But a biomarker is hard to ignore. We shouldn't need one for providers to trust women's pain, but a rapid, low-cost blood test would mean that fewer women with CFS are ignored.

If the Stanford team's test for CFS ultimately proves as accurate as early results suggest, it promises to further legitimize the disease within the medical community. It also stands to validate countless others who are suffering and don't yet know why. They deserve to know that it's not all in their heads.

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