Fighting a Mysterious Disease

Misdiagnosed and Misunderstood

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.

Misunderstood and Misdiagnosed

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.

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