Fighting a Mysterious Disease

Misdiagnosed and Misunderstood

Medically Reviewed by Charlotte E. Grayson Mathis, MD
6 min read

Aug. 22, 2001 -- Two years ago, actress Kellie Martin's 19-year-old sister Heather suddenly began to suffer from fatigue, an odd skin rash, and a slew of unexplainable health problems. Her symptoms stumped doctor after doctor. The doctors diagnosed her with one illness, then a different one, then yet another, as Heather's friends and family watched the formerly healthy teen become gravely ill.

The doctors couldn't reach a consensus on Heather's ailment. "They would stand out in the hall and argue about what the best way to treat her was," says Martin. "In the meantime, Heather was getting weaker and sicker. It was infuriating." Finally a doctor diagnosed Heather with systemic lupus erythematosus, also called lupus.

With lupus, like other autoimmune illnesses, the patient's immune system goes into overdrive and mistakenly attacks the body it is designed to protect. In Heather's case, her body was killing her own kidneys and other vital organs, mistaking them for foreign objects.

Though Heather's disease might seem unusual, 50 million Americans -- 75% of them women -- suffer from autoimmune disorders, according to Virginia Ladd, president and founder of the American Autoimmune Related Diseases Association Inc., or AARDA. Because of the threat these illnesses pose to women's health worldwide, the AARDA is currently working with both the United Nations Commission on the Status of Women and the World Health Organization to have autoimmune disorders declared a major women's health concern.

Autoimmune diseases are illnesses of the unknown -- the body attacks itself, the illnesses are often repeatedly misdiagnosed, and effective treatments are few, even after doctors do figure out what's wrong. The 80 or so recognized autoimmune illnesses range from those that are commonly known, like diabetes, psoriasis, multiple sclerosis, and rheumatoid arthritis, to the unfamiliar, including Hashimoto's thyroiditis -- a chronic inflammation of the thyroid gland -- and pemphigus vulgaris, a skin disease where blisters form on the mouth and scalp.

"Women usually have to see five or six doctors before they find someone who can tell them what they have," Ladd says. But once diagnosed, no one doctor treats the disease. Instead, various specialists treat the illness symptom by symptom. Ladd hopes that soon a specialist called an "autoimmunologist" will emerge to treat the scattered group of autoimmune diseases as a whole.

Perhaps then doctors will have more luck determining the underlying cause of these diseases -- that is, what triggers the immune system to react against the body in the first place. In one-third of the cases, there is a family history of autoimmune disorders, but that means there isn't a family history in the other cases, says autoimmune researcher Noel R. Rose, MD, professor of pathology and immunology at Johns Hopkins University in Baltimore. "We are still trying to find the trigger that makes these illnesses appear," he says. "Until we know the cause, we can't cure them. We can only treat their symptoms."

There are many theories on what the triggers might be but so far, no answers. Some suspect genetics plays a role. Others point to chemicals and contamination in the environment. Still others believe some sort of viral infection is at the root of the problem. Or perhaps it's a combination of all of these factors, an underlying genetic susceptibility that lies dormant until a trigger -- environmental or viral -- activates the disease. Researchers like Rose hope to find some answers soon. "The research of the past decade is adding up. Combined with the new research into the genetic code, we are very hopeful that there will be a breakthrough within the next 10 years," he says.

One reason researchers have difficulty finding answers is that not every autoimmune illness progresses as quickly as Heather's did. Many creep into a woman's life, settling in so gradually that the changes are attributed to stress or aging.

"Many times it is a visiting friend or relative, someone who doesn't see the person on a daily basis, who notices the profound changes the illness has caused," says Rose.

The symptoms are often mistakenly attributed to the hectic pace of a woman's life in her 20s and 30s or as premenopausal symptoms if she is in her 40s or 50s, says Rose. She may be told she just needs to slow down or get more rest, but relief still doesn't come.

Linda Otto knows all too well the struggle to find a name for the mysterious symptoms she was experiencing and the fight to find answers when her doctors didn't have any.

"I was working on this documentary film with the actor Bob Saget when I got sick," Otto says. "He talked about how his sister was dying of this disease called scleroderma, and I kept saying to him, 'Bob, look at my hands. What is wrong with my hands?' " The day after the funeral of Bob's sister Gaye, Otto was diagnosed with scleroderma -- an autoimmune disorder that leads to hardening of the tissues in the skin and elsewhere in the body. It can be fatal when critical organs, such as the lungs, stiffen and are unable to function.

"I was terrified. I thought I was going to die," she says. "Nobody could tell me about the disease, what to expect, or how to treat it." Otto embarked on a cross-country trip in search of answers, personally visiting the country's leading researchers. "I quickly found they were more interested in using my case to illustrate their particular theory than they were in my case itself."

For Otto, the hardening appeared primarily in her hands -- a difficult symptom for anyone, especially a filmmaker and avid golfer. "My doctors told me that I would eventually lose the use of my hands when they became permanently clenched, that nothing could be done to stop it." Otto refused to accept that prognosis and looked into alternative and physical therapies instead. Today, she has full use of her hands -- something she is convinced would not have happened without the five years of daily stretching exercises she followed as a result of her own research.

"You have to believe in yourself and seek alternative answers," she says. "With these illnesses so much is unknown that you can't just accept whatever the first doctor tells you."

Ladd, Otto, Martin, and Rose all say a woman shouldn't give up if she suspects something is wrong and is told otherwise. Many women with autoimmune illnesses see multiple doctors over a period of months or years before getting a diagnosis. "You have to keep believing in yourself, even if everyone is saying it's all in your head," says Ladd. "Don't give up until you get a diagnosis."

Kellie Martin, now the official spokeswoman for AARDA, agrees. "Often the biggest obstacle that patients with autoimmune disease face is just getting a diagnosis," she says.

But even a diagnosis won't always lead to a happy ending: Not long after being diagnosed with lupus, Martin's sister Heather died of a lung infection that her weakened immune system couldn't fight off. Still, Martin believes that an earlier diagnosis might have been able to save her. "If a doctor dismisses symptoms or says they are stress-related, patients need to find another doctor, period," she says.