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Rare Diseases

The Difficult Road to Rare Autoimmune Disease Diagnosis

Lilly Stairs

Interim CEO, American Autoimmune Related Diseases Association (AARDA)

While millions of Americans are diagnosed with an autoimmune disease, many are still considered extremely rare.

The American Autoimmune Related Diseases Association (AARDA) estimates that 50 million Americans have one or more autoimmune diseases. In total, there are more than 100 autoimmune diseases.

Diagnoses and treatment

For people with rare autoimmune disease, getting a proper diagnosis and accessing the right treatment are two of the most difficult challenges they face. On average, autoimmune patients see four different doctors over a three-year period before an accurate diagnosis is made. Furthermore, according to a survey conducted by AARDA, 62 percent of autoimmune disease patients had been labeled as chronic complainers or were told that they were overly concerned with their health, leading to significant challenges in getting a correct diagnosis.

Once patients are finally diagnosed, the next challenge becomes accessing treatment. Rare autoimmune conditions have far fewer approved treatments than the more common autoimmune conditions, such as Crohn’s disease and rheumatoid arthritis. While “off-label” use of medications has proven effective for some rare autoimmune conditions, insurance companies will often deny patients treatment coverage because the therapy is not FDA approved in their indication. Inability to access proper treatment can have a detrimental impact on a patient’s disease progression and quality of life.

Areas of improvement

Increased research funding for both individual rare autoimmune disease and collective autoimmune disease is necessary to streamline the diagnosis and treatment of rare autoimmune disease. In addition to research, it is important to provide autoimmune disease awareness and education for patients, practitioners, and caregivers. To learn more about AARDA’s mission to help facilitate collaboration in areas of autoimmune disease education, public awareness, research, and patient services, visit

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