(StatePoint) One in 10 Americans is currently affected by a rare disease. For these people, getting properly diagnosed and treated can be a challenge.
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Studies have shown it often takes five years or longer to receive an accurate diagnosis of a rare disease, according to the National Organization for Rare Disorders (NORD). And once diagnosed, many patients and families don’t know where to turn for treatment or support.
Most rare diseases go undiagnosed, so it's vital to know your family history. Ariel Skelley / Blend Images / Getty Images
“Nearly 30 million Americans are living with the challenges of a rare disease, but they are underserved and often ignored by the medical system,” said Peter Saltonstall, President and CEO of NORD. “Despite the challenges, many people with rare diseases display tremendous courage and strength, living their daily lives with disabling and mysterious symptoms.”
To draw attention to rare diseases as an important public health issue, NORD sponsors Rare Disease Day, which is held on the last day of February every year. Details can be found at RareDiseaseDay.us.
In the US, any disease affecting fewer than 200,000 Americans is considered rare. According to the National Institutes of Health, there are nearly 7,000 rare diseases, and about 75 percent of them affect children.
Dave Crawford of Dallas knows firsthand the challenges of suffering from a rare disease. For more than 50 years, Crawford suffered from daily mysterious symptoms including red, bumpy skin rashes, fevers, conjunctivitis, headaches, joint swelling and muscle aches. The symptoms often occurred after exposure to cold or damp air, but also flared spontaneously. Crawford’s mother, grandmother and great-grandmother had also lived with the same painful symptoms, but never received a diagnosis.
It wasn’t until 2010 that Crawford was finally diagnosed with Cryopyrin-Associated Periodic Syndromes (CAPS) — a group of rare genetic diseases that affect an estimated 300 people in the US.
“After suffering from daily symptoms for decades, it was a tremendous relief to get a conclusive diagnosis,” said Crawford. “My doctor and I have developed a treatment plan that keeps the inflammation and other symptoms well under control.”
“CAPS is a serious and lifelong inflammatory disease that is treatable, but often misdiagnosed or undiagnosed because few physicians are familiar with it, and its symptoms may resemble other illnesses,” said Dr. Hal Hoffman, Professor of Pediatrics and Medicine at the University of California, a specialist in rare inherited inflammatory disorders whose lab identified the gene responsible for CAPS.
Though rare diseases are often overlooked, it’s important to learn your family’s health history as many are passed down through generations.
To learn more about CAPS and take a disease questionnaire, visit CAPSFamilyConnections.com/rare. If you or someone you love have already been diagnosed with CAPS, share your experience with others at CAPSConnectUSA.com/rare. Both websites are provided by Novartis Pharmaceuticals Corporation.