Cryopyrin-Associated Periodic Syndromes (CAPS) – A group of rare genetic diseases that affect an estimated 300 people in the U.S.” – Novartis Pharmaceuticals

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 50 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 www.CAPSFamilyConnections.com/rare. If you or someone you love have already been diagnosed with CAPS, share your experience with others at www.CAPSConnectUSA.com/rare. Both websites are provided by Novartis Pharmaceuticals Corporation.

**Also check out www.nomidalliance.org, dedicated to increasing awareness care and treatment for patients with all forms of CAPS, and other autoinflammatory diseases.

Thank you Novartis Pharmaceuticals for your submission of this article!

 

2 thoughts on “Cryopyrin-Associated Periodic Syndromes (CAPS) – Daily Mysterious Symptoms Finally Solved”

  1. Thank you RARE project for posting this article, and also for mentioning The NOMID Alliance. I am going to share it today! We are hearing from so many patients that are being diagnosed with this disease, from infants to adults, and this rare disease. The patients often find out about these diseases after they “google” their symptoms and find resources online. I have heard from people that have been helped by finding articles like this in the news, so thank you for sharing it. We appreciate all that the RARE Project, and Global Genes Project is doing for all rare diseases.

  2. Hugh Hempel says:

    Hi Karen!
    We appreciate all you are doing as well! Thanks for the shout out and all our best!

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