Rare, debilitating condition treated through teamwork
Arna Shefrin's Story
In the fall of 2016, my life changed. I was napping on a flight home, when I suddenly awoke in severe pain. It felt like my hip was on fire. I had never experienced such intense pain before, and it was only the start of what was to come. A week later I broke out in a rash of red welts over my entire body, from my neck to my ankles.
My primary care physician ordered blood tests, which found several abnormalities, including a very high platelet count, and referred me to a hematologist, who diagnosed a serious blood disease. But even with the diagnosis and subsequent treatment, my symptoms didn’t improve. The pain grew more intense, I became increasingly anemic, and the rash became itchy, so I rarely slept. At my worst I spent 22 hours a day in bed, completely incapacitated by pain and severe fatigue. I saw many specialists, all of whom were stumped by my myriad symptoms. If it weren’t for the tremendous and selfless care of my husband, I don’t know how I would have made it.
At the same time, I was also undergoing treatment for breast cancer, which had been separately diagnosed. This was treated with surgery, chemotherapy, and radiation. After my final radiation treatment, 11 months after the pain first began on that flight, I was so sick that I went to the hospital and was admitted for a week with dangerously low sodium levels.
After discharge, I met with hematologist Dr. Jason Gotlib. Dr. Gotlib immediately doubted my initial blood disease diagnosis and thought the rash was the key to figuring out my diagnosis. He referred me to Dr. Bernice Kwong, a dermatologist I had met previously while in hospital. Taking Dr. Gotlib’s suspicion into account, Dr. Kwong thoroughly reviewed my medical chart. She noticed deep within that I had a monoclonal gammopathy in addition to the rash and bone pain. That clue led her to correctly suspect Schnitzler Syndrome, a rare autoinflammatory disease affecting only about 300 people in the world.
Fourteen months after my symptoms started, I took my first dose of medicine for Schnitzler Syndrome. It was a miracle — within 30 minutes the rash was disappearing, and the pain was subsiding. By the next day, the rash was completely gone, and I’ve had no pain since. Within a month, anemia had almost completely resolved and my energy was returning.
There is no cure for Schnitzler, so I will need daily injections for the rest of my life. However, every day I celebrate that I can get out of bed and do the things that bring me joy. Drs. Kwong and Gotlib saved my life, and I’m forever grateful to them.
“When we take the time to listen and consider a patient’s whole story, and collaborate with our colleagues in other specialties, we can significantly improve patients’ care and lives. I am lucky and privileged to be a dermatologist and to have the opportunity to help people who are suffering — and I’m especially fortunate to work on complex cases like Arna’s alongside partners like Dr. Gotlib. When experts collaborate together, we provide better care.”
─ Bernice Kwong, MD, FAAD Director, Supportive Dermato-Oncology Program Stanford Dermatology