complains of gluteal and ankle pain, but is not on any medication at this time. Thankfully, our middle son does not appear to have any signs or symptoms of inflammatory arthritis. It remains a genetic mystery, however, since nobody in our family has had this disease. Though neither I nor my husband has JA, one of us must be positive for the gene—what triggers it is unknown.
Going forward, we are optimistic that research will provide additional treatment options, and that more medical professionals will choose pediatric rheumatology as a specialty (like our son!). More importantly, we remain hopeful that a cure will be found.
Solving Allie’s Mystery by Allie
My name is Allie, and for three years I was a medical mystery. It all began when I was 13 years old and went to the pediatrician for a regular checkup. My mom mentioned to the doctor that I looked “swollen” and had frequent back pain. At first we thought hormones may be causing the swelling and that my heavy backpack was the culprit behind the back pain. But the swelling was constant, not just once a month, and lightening the load in my backpack really didn’t help with the back pain. The doctor ordered some blood work to see what might be going on. When the results came back, he called my mom and asked to see her in his office, which meant the news wasn’t good. The blood work indicated poor kidney function, and we were referred to nephrology—a branch of medicine that deals with kidneys.
The nephrologist conducted more tests, including an antinuclear antibody (ANA) analysis, a blood test used to screen for autoimmune disorders. The test came up negative, but the doctor explained that just because it was negative at the time didn’t mean it wouldn’t test positive later. Based on my symptoms, he suspected I had systemic lupus erythematosus (SLE), commonly called lupus, which is a chronic autoimmune disease that may affect the skin, joints, kidneys, brain, and other organs. Like other autoimmune disorders, the body’s immune system mistakenly attacks healthy issue, which leads to inflammation, pain, and possible damage to the areas being attacked. Symptoms vary from person-to-person and may come and go (flares and remissions). The doctor said my case was very similar to some of the other young patients he had in his clinic, but it was too early to make a definitive diagnosis. Therefore, I was listed with “nonspecific autoimmune disease.”
My nephrologist was an amazing doctor because he really listened to us. Unfortunately, we had to move and I started seeing new doctors in rheumatology. By this time I was nearly 15 years old, and though I was still having symptoms, no one had given us a firm diagnosis. At my first appointment with these new doctors, I was discouraged because I felt they weren’t really listening. In fact, they tried to explain away all my symptoms, telling my mom there was nothing wrong with me except taking in too many calories—which was not true! I barely ate lunch at school and was careful to eat healthy meals at home. Needless to say, we were very frustrated—all we wanted was an accurate diagnosis so I could be properly treated. We went to many other doctors looking for an answer, and along the way I was suspected of having fibromyalgia, lymphedema, lupus, and a few other autoimmune disorders.
Finally, a month after my sixteenth birthday, I had my first appointment at the University of Florida Academic Health Center (Shands) and met my current rheumatologist. He listened to my story, reviewed my very thick medical file, asked a lot of questions, and performed a thorough examination. When he was done, he diagnosed me with lupus nephritis (inflammation of the kidneys) and juvenile arthritis, which are closely related. I learned that many lupus sufferers also develop lupus nephritis (up to 60 percent according to the National Institutes of Health) and frequently develop arthritis.
Though it was scary to hear, putting a name to my “nonspecific autoimmune disease” was a relief, because not knowing what I had for three years and looking for an answer were very stressful. I felt like a complicated puzzle with a missing piece or a mystery that couldn’t be solved. Finding a solution meant that I could finally get proper treatment. I am now on daily medication and receive a chemo infusion every three months to help control my lupus and maintain normal kidney function. It’s not easy, but it’s a great feeling knowing that I’m getting the treatment I need—and to no longer be a mystery.
Now that you’ve learned a little about the opponent and met a few players, it’s time for you to assemble your own team … your healthcare team, that is. Treatment plans for juvenile arthritis (JA) are highly individualized because each child responds differently to medications and therapies and may have varied body parts and systems that are affected. This is why it’s so important to select the right healthcare team for your child. Both my children have JIA, but their medical teams have a different lineup. Evan has a rheumatologist, ophthalmologist, orthopedist, and immunologist. Grant’s list of specialists is more extensive, but it no longer includes a doctor of immunology. Because their cases and manifestations are so diverse, they each need a unique set of professionals to provide the proper care.
Building Your Roster
Leading this team of specialists is the rheumatologist, since JA is at the root of the related health issues your child may face. Once a diagnosis is obtained, he or she can begin steering you in the right direction; helping you to decide whether you need another specialist or just a follow-up visit with your pediatrician or rheumatologist. In most cases, your roster of specialists will include an ophthalmologist.
Children with any form of autoimmune disease will typically be referred to an ophthalmologist, as they run a higher risk of developing inflammatory conditions in the eyes—some with very serious ramifications if not caught early enough. The most common eye issue is uveitis or inflammation of the inner eye. You may also hear the term iritis mentioned, which refers to a specific form of uveitis that affects the iris. Although some eye issues are caused by JA, others may be triggered by the medications used to treat it. These conditions usually develop slowly, so early intervention is key to the prevention of permanent damage. As a result, regular and sometimes more frequent visits to the ophthalmologist are recommended for children with rheumatic diseases.
A PERFECT FIT FOR JENNA by AMY
Some parents remember every detail of their child’s diagnosis, but for me those first weeks are a blur of events and emotions. What really stands out in my mind was how small and vulnerable my daughter was and how helpless I felt. It was the summer of 2008, and Jenna, the youngest of my three children, was just 4½ years old. After my husband and my mother both commented on the size and shape of her knees on the same day, I knew something must be wrong. The very next day we took her in to see our family physician. Unlike many families who have to wait months for a diagnosis, our doctor immediately suspected juvenile arthritis. At the time, we were living in Maine, which does not have a pediatric rheumatologist, so our doctor referred us to one of only a few adult rheumatologists who are willing to see children.
Jenna’s first appointment with the rheumatologist revealed more inflamed joints, in addition to the fluid on both knees. Further tests confirmed the diagnosis of juvenile arthritis. I suppose I should have been shocked to hear that, but I wasn’t—at least not yet. I remember thinking, “Okay, she will take some medication and be okay.” But, of course, this disease is more complicated than that.
Based on her lab work, the rheumatologist told us that Jenna needed to be seen by an eye doctor immediately. At this point, I thought he was crazy—arthritis in her eyes? I continued to question this when I called to schedule an appointment with our regular eye doctor, but they confirmed that arthritis can indeed affect the eyes and is a very serious condition. In fact, they fit us in the next day.
