The alarm clock sounded and once again, Ann was not ready for it. Day after day, she awoke feeling tired. For months, she felt fatigued, and today was no different. She could barely make it out of bed. How, at age 32, could she be so run down?

Ann, a lawyer in San Francisco, had been to see her doctor, but felt frustrated. When she described her symptoms—tired all the time, weight loss without trying, and just not feeling "healthy"—her doctor said she needed to relax more, maybe take a vacation. The doctor shrugged off Ann's concerns, saying she was young and in her prime and that she had nothing to worry about.

When Ann's symptoms worsened, she went to another doctor recommended by a friend and was diagnosed with lupus , an autoimmune disease. With the cause of her symptoms finally identified, she was able to begin a treatment plan that helped control the symptoms that were upsetting her life.

Difficulty Getting Diagnosed

The term autoimmune disease encompasses more than 80 different, serious chronic illnesses. Many are rare, but as a group they plague millions of Americans—about one adult in every 20.

Ann's experience is not uncommon. In 1997, the American Autoimmune Related Disease Association (AARDA) found that more than 65% of patients with autoimmune diseases had been labeled hypochondriacs or chronic complainers during the earlier stages of their illnesses. This may be due to the nature of the symptoms: they are vague, tend to come and go, and are often hard to describe. Additionally, autoimmune diseases tend to strike women during their childbearing years, typically when a woman looks healthy.

Getting a correct diagnosis may be difficult in the beginning stages, but it is imperative. The inability to quickly identify an autoimmune disease can take a serious toll on a person, both physically and mentally.

Finding the Connection

Women constitute 75% of people with autoimmune diseases, and autoimmune diseases are the fourth leading cause of disability among women in the United States.

Researchers don't know why more women suffer from autoimmune diseases. In fact, little is known about what causes autoimmune diseases. It appears that hormones may play a role. The involvement of hormones has been hypothesized because the expression of autoimmune diseases and their symptoms seems to be related to changes in hormone levels.

"No study clearly states that hormones cause autoimmune diseases," says Virginia Ladd, president and founder of the AARDA, "but a connection between the two is evident. If you look at the number of diagnoses after puberty and before menopause , you see a much higher rate than before or after these events. Also, some diseases suddenly improve during pregnancy, with symptoms re-emerging after delivery, and others may get worse with pregnancy."

"The research is in its infancy, and although the inter-relationship between hormones and autoimmune diseases is acknowledged, most aspects of this relationship are not clearly understood," Ladd explains.

Searching for a Cause

The immune system defends the body's health by fighting foreign invaders. White blood cells are the primary soldiers deployed in the war against infection. They are a diverse group of cells, but lymphocytes account for about 25% of them and play a major role in defending against "intruders."

The key to proper functioning of the immune system is its ability to distinguish "self" from "non-self" tissues. It is normal for some lymphocytes to become sensitized against self tissue, but these renegade cells are usually suppressed by other lymphocytes. Autoimmune disorders occur when the control process is thrown out of whack and the immune system reacts to normal, self body tissue. The body actually attacks its own tissues and can destroy body tissues, change organ function, or cause abnormal organ growth.

Is It Genetic?

Genetics play a role in the development of the disease, but autoimmune diseases are not genetic diseases. Autoimmune diseases are not caused by a specific gene mutation. Rather, numerous genes are involved and work together to increase a person's susceptibility.

Autoimmune diseases tend to cluster in families. Interestingly, though, the clusters manifest as different autoimmune diseases: a mother may have diabetes ; a daughter may have lupus; and a grandmother may have rheumatoid arthritis .

Noel Rose, MD, PhD, a professor at Johns Hopkins University and expert in the field of autoimmune diseases, states in a paper presented at an AARDA conference that "genetic components represent something on the order of half of the risks. If you have a genetic predisposition to autoimmunity, you may have two or five times as much chance of developing autoimmunity as someone else."

Is It Something in the Environment?

Science has not been able to provide complete answers to the connection between autoimmune diseases and environment, but there appear to be agents in the environment that trigger the disease or exacerbate the symptoms. These agents include:

  • Sunlight, which cannot only worsen the symptoms of lupus, but may also bring about the disease
  • Silica, which has been found to possibly induce scleroderma
  • Iodine, which may aggravate thyroid disease
  • Viral infections, which may bring on or heighten certain immune diseases
  • Stress and anxiety , which have been shown to increase the severity and frequency of some symptoms

Although researchers believe there may be some association between autoimmune diseases and the environment, the relationship is not clear and much remains to be discovered.

Managing Autoimmune Diseases

Most autoimmune diseases are chronic and few can be cured. Treatment focuses on reducing the severity of the symptoms. In some cases, symptoms may be reduced with steroidal or other anti-inflammatory medications. With severe diseases, it may be necessary to suppress the immune system with immunosuppressive medications.

Until effective treatment or preventive measures are discovered, experts say that learning to cope with the disease is the best strategy. Developing coping mechanisms can be challenging and even frightening. You may not only question your own ability to cope but also the ability of those around you.

The AARDA highlights the following two areas on which to focus your coping efforts:

Dealing With Your Doctor

It is important to not be intimidated by the medical profession; your doctor is your partner. Ask questions and understand fully your individual condition and treatment plan. Be an active member in the development of your treatment plan. Never be afraid to get a second opinion.

Dealing With Your Emotions

Mentally, you can expect to feel several different emotions, and it may seem like a roller coaster. The way you handle the emotional cascade is personal; find the way that works for you. It may be helpful to enlist the support of those around you, remembering that you're not alone. In fact, many people find joining a support group very helpful. And, most importantly, give yourself and your family time to adjust, since chronic illnesses have many ups and downs and can be emotionally draining.