Living with Juvenile Arthritis. Kimberly Poston Miller
because his shoulder was so stiff. He recommended ibuprofen and rest. To loosen things up, the doctor showed Noah some exercises and stretches, which he performed daily. Noah loved baseball (and still does), so he was willing to do whatever was necessary to feel better. We even tried custom shoe inserts thinking it would help. But things did not improve.
In September, just two weeks after Noah started the sixth grade, we awoke to a scream in the middle of the night. When we raced into his room, our son said his back and hip were in such terrible pain that he couldn’t move. I remember running my hands down his back and finding the area above his tailbone warm and swollen. And that’s when I knew something was seriously wrong.
In the morning, we took Noah to a pediatric orthopedist in another city about an hour away. This time, when the doctor performed lab work he said the results were “alarming” and ordered an MRI to be done the same day. The results of the MRI were “nonspecific,” meaning they saw something in his pelvis but they weren’t sure what it was. We were referred to pediatric hematology at the children’s hospital, where Noah was seen by an oncologist. Just the mention of cancer made this the scariest day of our lives. However, after more lab work and a thorough examination, the oncologist assured us she didn’t think it was a malignancy.
We were then referred to pediatric rheumatology and had an appointment within days. Another MRI was ordered, this time with contrast, which revealed inflammation in Noah’s pelvis; a rather rare finding for a child of twelve. More specifically, our son was diagnosed with HLA-B27 juvenile spondyloarthropathy associated ankylosing spondylitis, a type of juvenile arthritis. We finally had a diagnosis, and although we were relieved there were no malignancies, we faced a different set of worries.
As a mother and a registered nurse, I experienced a lot of guilt after Noah’s diagnosis. I felt I should have known; I should have understood how much he was hurting and kept taking him to the doctor. However, because his pain and stiffness seemed to come and go, growing pains seemed like a logical explanation. What I’ve since learned about this disease is that it goes in and out of remission. Stress can trigger a “flare up” and sometimes it just happens. When these flares occur, our pediatric rheumatologist only has a handful of “tricks she can pull out of her black bag,” because, unfortunately, there are not a lot of treatment options available. There is also currently no cure.
It’s been five years since Noah was diagnosed, and I’m happy to say he’s doing great. His inflammation is controlled with medication, and he has a great attitude. He is currently attending early college/high school and hopes to study for a career in the healthcare field where he can help children with inflammatory arthritis.
While the exact cause of JA is unknown, scientists believe genetics play a role. The genetic marker HLA-B27 is often found in those with juvenile spondyloarthropathy. Our youngest son, who is nine years old, has tested positive for this marker and is currently being evaluated by Noah’s pediatric rheumatologist. He is exhibiting some signs of inflammation and occasionally 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