BIDMC's Autoinflammatory Disease Center Provides the Answer to Mysterious Pain

By Beth Israel Deaconess Medical Center Staff

Sheila Wilson felt an inconspicuous popping sensation in her sternum while weeding her garden.  Well-known among her friends for her exceptionally active and healthy lifestyle, she quickly dismissed it.  But it marked the start of a very painful journey.

"I started feeling pain a few days after my first symptom in the garden, and then it was brutally painful a week later," says Wilson, 57, of Rockport, MA. "I tried physical therapy, but the pain felt like electric shocks in my neck and shoulders…then one morning about two weeks after the first symptom, I could not move at all when I woke up."

Wilson spent the next eight months in and out of medical appointments in search of an explanation to this sudden, debilitating condition. Meanwhile, every movement delivered a shockwave of pain.

"I literally couldn't do anything.  I was so strong, fast and fit before I got this condition. I was doing power yoga weekly, could run really fast, and garden and landscape like crazy," she says. "When this condition hit, it knocked me down so hard and fast that it was shocking. I had to use both hands to hold a glass of water and I could barely get it to my mouth without intense pain."

A bone scan revealed severe inflammation of her sternum. But her doctors couldn't determine why. After a few months, some work colleagues recommended doctors at Beth Israel Deaconess Medical Center (BIDMC).

"First, I saw Dr. Jacalyn Rosenblatt in hematology. This was the first time I felt hopeful that I was in the right place," she says. Dr. Rosenblatt started testing for worst case scenarios, systematically eliminating each possibility. Eventually, that process led her to Arturo Diaz, MD in the division of rheumatology, who oversees the Autoinflammatory Disease Center at BIDMC.

"Autoinflammatory diseases are a relatively new disease class defined in the last 15 years, characterized by unexplained, episodic or continuous inflammation," Diaz says. "Some of these diseases are caused by gene mutations that trigger fever without an underlying infection, and inflammation of chest, abdomen, and several organs, including joints, skin, eyes, bones, and even the brain.  The inflammation causes severe discomfort and malfunction of the affected organ, and if not treated could lead to permanent organ damage."

Dr. Diaz diagnosed Wilson with SAPHO Syndrome (Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis), a type of autoinflammatory disease causing severe pain due to joint swelling (synovitis) and bone inflammation (osteitis).

"Symptoms of autoinflammatory diseases are similar to those caused by infections or cancer," says Jonathan Hausmann, MD, who also treats patients in the Autoinflammatory Disease Center, and runs a blog about such ailments. "Twenty years ago, we had no tests available to detect these conditions, and most patients who suffered from autoinflammatory diseases went undiagnosed. Fortunately, innovative research and technology advances have improved our ability to recognize and test for these conditions. Nevertheless, I believe that most patients with autoinflammatory diseases remain undiagnosed," Hausmann adds.

Newly-developed treatments have vastly improved the prognosis and the quality of life for individuals suffering from a variety of autoinflammatory diseases. After Dr. Diaz began treating Wilson with an injectable medication, her pain began to subside. Today, she lives pain-free.

"I feel very grateful that this type of medicine is available…it has saved me," says Wilson, who also makes a point to acknowledge her co-workers for supporting her through her ordeal. Today, she's once again able to lead the active lifestyle she's known for – things like long walks, chasing her dogs and gardening.

"I am especially grateful for all the great, caring doctors and nurses who took care of me at Beth Israel Deaconess – and for having Dr. Diaz in my life as a caregiver," Wilson says. "He is my hero and he gave me back my health and happiness!"

Above content provided by Beth Israel Deaconess Medical Center. For advice about your medical care, consult your doctor. Posted August 2016