New research validates chronic fatigue sufferers

© Jae S. Lee / The Tennessean

Esther Siebert, who has chronic fatigue syndrome, moved to Nashville from California a year ago. She still travels back to California for treatment, having no luck finding an internist locally who can help.

Esther Siebert, 67, has been living with a draining and debilitating disease for nearly 30 years, one that is only just recently being widely recognized as something real. Most commonly called chronic fatigue syndrome, it is a disease many doctors have been unable to diagnose, while many sufferers have been made to feel it was all in their head.

Siebert, who moved to Nashville from California a year ago, was lucky that her condition was recognized very early on by an understanding doctor. That isn't always the case.

"A lot of people are in the closet about it because it has been so ridiculed and maligned and neglected," Siebert says.

But a report released in February proposing a name change and diagnostic criteria, followed just a few weeks later with breaking research that scientists have discovered biomarkers for the disease, could change everything.

Commissioned by the Department of Health and Human Services, the Centers for Disease Control and Prevention, the Food and Drug Administration and other health groups, the Institute of Medicine was tasked to examine the evidence base for myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS).

The result is a comprehensive review of all of the literature about the illness available, and in the report, Beyond Myalgic Encephalomyelitis/Chronic Fatigue Syndrome: Redefining an Illness, the IOM committee proposes new criteria that will help diagnosis patients and enhance understanding of what the symptoms are.

"When I was working on this project, and when I told people what I was doing, one of the most common responses I got was, 'Is this even real?' " says Dr. Ellen Wright Clayton of Vanderbilt University, who chaired the committee. "My answer is, 'Yeah, it is really real. People really have this. And it is a diagnosis that needs to be made.' "

According to the report, the disease is characterized by profound fatigue, cognitive dysfunction, sleep abnormalities, autonomic manifestations, pain, and other symptoms that are made worse by exertion of any sort. At least one-quarter of patients are bed- or house-bound at some point in their illness.

"The fatigue really gets in the way of your ability to do all the things you used to do, and it is often profound, severe and long-lasting, going on at least for six months in order to make the diagnosis," Clayton says. "But in many of these patients, it has been going on for years, even decades."

Name change adds legitimacy

The IOM committee has proposed a new name in the hopes of removing some of the stigma associated with ME/CFS and legitimizing the symptoms an estimated 836,000 to 2.5 million Americans are currently living with. The report suggests the name "chronic fatigue syndrome" trivializes the seriousness of the condition as well as the perception of doctors and loved ones who may have brushed it off as something in their head.

"We recommended changing the name for two reasons," Clayton says. "One, the stigma associated with chronic fatigue syndrome is enormous. And two, we think the best possible name is a name that is focused on the symptoms."

The recommendation is to change the name to systemic exertion intolerance disease (SEID), which Clayton says captures a central characteristic of the disease, the fact that exertion of any sort — physical, cognitive or emotional — can adversely affect patients in many organ systems and in many aspects of their lives.

And this isn't the kind of exertion like you would feel after a long day or rigorous hike. Siebert says it is almost like paralysis, and each movement she makes has to be mentally calculated ahead of time. She tells of a time when she was initially bedridden when she would only use her eyes to look at something instead of turning her head, and having to lay on the bathroom floor and try and regain some energy after becoming utterly drained from sitting up to use the restroom.

"The idea of exertion has to be brought down to our level," Siebert says. "I saw an article that talked about minor exertion as going to the grocery store. Going to the grocery store is not a minor exertion for us — being able to stand up while you brush your teeth? That is a victory."

New biomarkers found

The cause of ME/CFS remains unknown, although symptoms are most commonly attributed to being triggered by certain viral infections. Siebert was originally diagnosed with chronic Epstein-Barr Virus, which Clayton says is a major trigger in adolescence.

"Our knowledge of that in this area is really nascent," Clayton says.

Plus, there is no cure for what is affecting Siebert, and treatment, if people are lucky enough to find a doctor with an understanding of the illness, is only to help manage symptoms. That's why Clayton feels the most important part of the report is elaborating the diagnostic criteria.

"There is no question about it — this is the most comprehensive review of the literature that has ever been done, period, on this disorder," Clayton says. "This is something you don't want to have. But, it can be diagnosed and it should be diagnosed and it should be treated. Our major hope is that people will start making this diagnosis, taking these patients seriously, and taking care of them."

Last week's finding of a biological marker distinguishing differences in the immune systems of people with chronic fatigue syndrome and those of healthy people, as well as differences between people who have been sick for less than three years and those who have been sick longer, could eventually lead to a diagnostic test to identify the disease.

Siebert believes the report and research will do more than change the perception of the disease. She hopes it will lead to more funding and research to discover what causes it, how it develops and progresses, and finally develop an effective diagnostic marker and treatment.

"I'm so excited to see this study follow on the heels of the recent Institutes of Medicine report," says Siebert, the day the findings were released. "It's great to have yet another biomedical study confirm that this illness is a real, biological disease. And I hope this study is just the beginning of a massive effort to discover more clinical biomarkers as well as how to prevent, treat and cure this life-devastating disease."

Last year, the National Institute of Health dedicated $5 million to research for chronic fatigue syndrome. By comparison, Fibromyalgia got $11 million, asthma got $207 million, and Alzheimer's got $504 million.

"One of the reasons we don't understand the biology is because there hasn't been the money for the research," Clayton says. "The funding for this disorder is just shameful — $5 million a year for a disease that affects probably millions of people? That is just crazy."

Families struggle

Siebert considers herself one of the lucky ones, having maintained unwavering support from loved ones, both financial and emotional. In July she will be married for 34 years, only five of which she was healthy, and has three supportive grown children who have spent their lives watching their mother suffer.

"This is really a family disease," she says. "Part of the pain of it is how you are unable to take care of your loved ones, especially the children who need help. I was one of the fortunate ones in that my husband didn't leave me and I had income. There are so many patients out there, destitute, unable to even go out and get food. Having family and friends reject them because this illness was seen for so long — until now really — for being all in our heads."

Siebert has a bachelor's degree in journalism and a master's in communications from the University of Chicago. Before becoming sick, she worked in marketing and sold large computer systems to Fortune 500 companies. Yet, at times, she has been made to feel she didn't know her own body.

She spends her time mentally pacing out her days in order to get the simplest tasks done, like taking a shower or tidying up her kitchen. Rest doesn't help restore energy, so it could be days before crossing just those two things off her list.

"I did some advocacy writing yesterday and exhausted myself," she says. "I probably wrote four hours total, spread out throughout the day. Because of that overexertion — which was mainly sitting down at my computer — my brain would not allow me to go to sleep. I woke up and I am aching, my stomach is upset, and I can't function today at all."

And, for now, she still has to travel back to California for treatment, having no luck finding an internist locally who can help.

"We were living with doctors telling us we were crazy, family and friends or doctors telling you there is no such thing, and being sick with this could make you crazy," she says. "It is a gift I can sit up in a recliner a lot of the day without having to lay flat."

Key facts about ME/CFS

- Myalgic encephalomyelitis/chronic fatigue syndrome (ME/ CFS) affects 836,000 to 2.5 million Americans.

- An estimated 84 to 91 percent of people with ME/CFS have not yet been diagnosed.

- ME/CFS affects women more often than men.

- Most patients currently diagnosed with ME/CFS are Caucasian, but some studies suggest that ME/CFS is more common in minority groups.

- The average age of onset is 33, although ME/CFS has been reported in patients younger than age 10 and older than age 70.

Five main symptoms of ME/CFS

1. Reduction or impairment in ability to carry out normal daily activities, accompanied by profound fatigue.

2. Post-exertional malaise (worsening of symptoms after physical, cognitive or emotional effort).

3. Unrefreshing sleep.

4. Cognitive impairment.

5. Orthostatic intolerance (symptoms that worsen when a person stands upright and improve when the person lies back down).

Proposed diagnostic criteria

Diagnosis would require the following three symptoms:

- A substantial reduction or impairment in the ability to engage in pre-illness levels of occupational, educational, social or personal activities, that persists for more than six months and is accompanied by fatigue, which is often profound, is of new or definite onset (not lifelong), is not the result of ongoing excessive exertion, and is not substantially alleviated by rest

- Post exertional malaise

- Unrefreshing sleep

At least one of the two following would also be required:

- Cognitive impairment

- Orthostatic intolerance

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