Emily has always been an energetic child, very active and constantly in motion. In the summer of 2006, Emily started getting a rash accompanied by high fevers and all over body pain. The rash covered her body but was more significant in her wrists, knees, hips, ankles, and around her eyes. Her fevers would be high one minute and gone the next. She had difficulty getting out of bed in the morning, could not navigate a single flight of stairs, and would often wake up screaming from the pain in her legs.
In September 2006, Emily's pediatrician diagnosed her with Fifth's Disease, and indicated that the only treatment was to "wait it out". By the fifth week the rash was much worse, and she was in so much pain that we needed to push her around in a stroller. We begged for bloodwork, and the results indicated that something else was going on. Ruling out lymphoma, leukemia, lyme disease, and lupus, an infectious disease specialist finally diagnosed Emily with Systemic Onset Juvenile Rheumatoid Arthritis ("JRA"), or Still's Disease.
If at first you don't succeed...
In late 2006, Emily began seeing an adult rheumatologist, who prescribed naproxen and prednisone to treat her arthritis. We were assured that "Emily would outgrow the disease in a year or two", and that we had nothing to worry about (we later learned that both statements were grossly inaccurate). After months on prednisone and naproxen, Emily's features changed significantly. The disease inflamed the linings in her belly, and the high dose of prednisone caused her to gain 25 pounds (roughly half of her original weight) in less than a year's time. By this point her knees, ankles, and wrists were so swollen she lost full range of motion and couldn't walk from the car to the front of a store without laying down on the ground. We had to resort to using a stroller again. She had to wear dresses two sizes bigger so she would be comfortable. She couldn't undo buttons or snaps. She was teased by other children who told her she was fat and ugly. She has such an amazing personality that her response to them was "No, I am not, I am beautiful!"
We became involved with the Massachusetts chapter of the Arthritis Foundation, a tremendous resource for families affected by arthritis and other rheumatic diseases. We attended nearly every event they sponsored, and enjoyed educating ourselves and networking with other families. In a chance encounter at a parents' dinner, we spoke to a family who had seen the same rheumatologist to treat their child, with similar disappointing results. They recommended that we seek a second opinion, as pediatric rheumatology was altogether different than adult treatment. In July 2007, we attended the National JRA Conference in Hershey, PA and met Emily's future doctor. Given that there are less than 200 pediatric rheumatologists in the entire United States, we were pleasantly surprised to find out that Dr. Rothman practiced at Shriners' Hospital in Springfield, MA, just one hour away.
Dr. Rothman prescribed aggressive treatment including draining and injecting 5 joints with steroids for pain relief. During the first year of new treatment, Emily was put on injections of Methotrexate, a type of chemotherapy, and Enbrel, another injection, while at the same time dramatically reducing the dose of prednisone that she was taking. Gradually, Emily began improving. Her rashes, fevers, and joint swelling began to subside. She began OT and PT at Shriners which improved her range of motion. When Enbrel and methotrexate began to lose their effectiveness in mid-2008, we switched to nightly injections of Kineret.
In February 2009, Emily's doctor could not find active signs of the arthritis, and announced a "clinical remission", meaning that the disease appeared dormant with regular medication. Emily's once-nightly injections were reduced to every other night, and subsequently to just one every three nights.
She has had several "flare-ups" since then, resulting in a return to nightly injections - but whether receiving 2 shots a week or 7, her positive attitude keeps us all hopeful for still more better days ahead.
It has been many years since Emily's diagnosis, and she has made remarkable strides towards being pain and symptom free. We are gradually weaning her off the medication to see if the disease will stay hidden. Throughout this journey her spirit has never been broken, and she is currently fortunate to be able to participate in all of the activities of a "normal" middle-school girl.
Our hope is that Emily can beat the odds and achieve a full remission once the medications have been tapered off altogether. Less than 10% of patients with Emily's condition have been lucky enough to achieve this.
We owe an immeasurable debt of gratitude to Dr. Rothman, Shriners' Hospital, and the Arthritis Foundation. Emily's life has truly been saved, and we are eternally committed to helping these organizations so that they may continue to improve the lives of countless others.