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Last updated January 1, 2014

Fighting A Mystery Disease

Many autoimmune ailments like lupus, scleroderma, and rheumatoid arthritis are often misunderstood and misdiagnosed. Where does that leave suffering women?

Michelle Bloomquish, WebMD Medical News

September 18, 2000 -- 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 physicians 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 physician diagnosed Heather with systemic lupus erythematosus, also called simply "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. (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 disorders 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. "There's no specialist to see for autoimmune disease. It's like trying to fight cancer, but with no oncologists." Instead, various medical specialists often treat these illnesses symptom by symptom: rheumatologists for joint pain and fatigue, endocrinologists for hormonal imbalances, dermatologists for rashes, and so on. 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 in two-thirds of cases there isn't, 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.


The Masquerading Illnesses
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 instead, 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. Life and vitality are slowly replaced with depression, illness, and fatigue.

The symptoms are often mistakenly attributed to the hectic pace of a woman's life in her 20s and 30s or as pre-menopausal 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. Other times the woman deeply suspects something is wrong but is told she worries too much by doctors, family, and friends

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, Linda was diagnosed with scleroderma -- an autoimmune disorder that leads to hardening of the connective tissues in the skin. 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." Linda 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 Linda, 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." Linda 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."


Get a Second, Third, and Fourth Opinion if Necessary
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 spokesperson 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

Suspect You Have an Autoimmune Disease? A few simple steps can help you manage your health.
By Michele Bloomquist

September 18, 2000 -- Patients with autoimmune disorders have more than illness in common. Many also share stories of a long and frustrating fight with the medical system to find a name for their mixed bag of medical problems.

Virginia Ladd, president and founder of the American Autoimmune Related Disease Association, Inc., and a lupus patient herself for more than 30 years, shares these suggestions with women who suspect they may have an autoimmune disorder.

Believe in Yourself
"It's all in your head" or "you worry about your health too much" are common comments heard by those with undiagnosed autoimmune diseases. Doctors can't find anything wrong. Friends and family may begin to wonder if you really are sick; you may even question it yourself. But when it comes to autoimmune disorders, the patient often knows that something has changed and is wrong long before anyone else, says Ladd. Believing in yourself -- in the part of you that says something is wrong -- is critical. Don't give up until you get an answer.

Know Your Family History
Autoimmune diseases tend to run in families, although they can change in their expression from generation to generation. Your grandmother may have had lupus, your mother Graves' disease, or your sister diabetes. "A big step toward diagnosis is finding someone who thinks it could be an autoimmune disorder," says Ladd. "Knowing about your family history can get doctors looking in that direction."

Keep Track of Your Symptoms
Autoimmune illnesses can be characterized by a puzzling group of symptoms that cross medical specialties. Your dermatologist may be treating your skin rash and your family physician is tending to your fatigue, while a rheumatologist is treating your joint pain -- but none of them is talking to the other. It may be up to you to make sure each doctor is aware of all the pieces. But don't overdo it. Describing every symptom you've ever experienced in your lifetime may make you look like a hypochondriac, says Ladd. Stick to the most recent and most pressing symptoms.

Do Your Own Research
Thanks to the Internet, you now have access to a wide variety of medical information once available only to medical professionals, says Ladd. If your symptoms lead you to suspect you may have an autoimmune disease, do your homework. Being informed about symptoms, tests, and treatments will help you communicate with and understand your doctor. But keep in mind that not everything on the Internet is accurate. Be sure to check the source. Is it reliable? Was the content medically reviewed? Is the information reported elsewhere? If you can't verify the information through another source, question it.

Seek Other Opinions
Autoimmune patients see an average of six doctors before ever getting a diagnosis, says Ladd. If you suspect your illness is more than the flu, stress, or fatigue, keep looking even if you don't get answers right away. If your doctor doesn't seem to understand what is causing your symptoms or minimizes them, don't be afraid to find a new doctor. If you can't change doctors because of your health plan, be proactive and ask for referrals to specialists.

Talk to People About Your Symptoms
Although you may feel like others are tired of hearing about your illness, many times talking to friends, family, and acquaintances leads to a breakthrough because someone will know someone else who had the same illness. For instance, a man was talking to Ladd's son about a mysterious liver condition he had been experiencing for years. Ladd's son asked if he had considered the possibility of autoimmune hepatitis. He hadn't. With that clue, the man went back to his doctor and was finally diagnosed.

Don't Become a Victim
When you're feeling lousy and nobody knows why, it's easy to start feeling like a victim. Fight the urge, says Ladd. Others can help, but you have to take the lead. Don't give in or give up. You are your own best advocate.

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