Читать книгу Living with Juvenile Arthritis - Kimberly Poston Miller - Страница 11
ОглавлениеDid you know that juvenile arthritis is one of the most common childhood diseases in the United States? Approximately 300,000 American children are affected by pediatric arthritis and rheumatologic conditions—and the numbers are on the rise. And, yet, there is a great deal that is still unknown about this affliction. As I touched on earlier, there is no set course of treatment; symptoms can vary widely from child to child; and even the diagnosis can change over time since there are so many forms of the disease. It’s unpredictable, to say the least.
The broadest definition of juvenile arthritis is any form of arthritis or arthritis-related condition that develops in children or teens younger than the age of 16. The most common form is juvenile idiopathic arthritis (JIA), which means “from unknown cause.” Unlike osteoarthritis (the type you associate with aging and overuse of joints), juvenile arthritis (JA) is usually an autoimmune disorder. In adults, the condition is referred to as rheumatoid arthritis (RA). In both cases, the immune system attacks some of the body’s healthy cells and tissues. Research suggests that it may be a two-step process: something in the genes (a genetic predisposition or the presence of a known marker such as HLA-B27) makes the body more conducive to the development of the condition, and then something else, like a virus, can set it off.
The way an attack is manifested depends on the type of JA the child has. Once the child is diagnosed, the next challenge is to determine the specific type. The first six months after diagnosis are especially important, because each type of JA can respond to treatments and medications differently. In fact, certain treatments are only used for some subtypes and not for others. However, during an episode of high inflammation or “flare,” some treatments, such as the use of steroids, are common across all types. To further confuse matters, some children respond better to medications that are atypical treatments for their type. For example, our son Grant responded better to some medications used for juvenile dermatomyositis (JDM) than those typically used for his first diagnosis of enthesitis-related JIA, despite the absence of a JDM diagnosis! The earlier the specific type is determined, the better chance the medical team has to limit or even reverse possible damage to the parts of the body that are under attack.
The Big Picture
In the beginning, I just wanted a firm diagnosis. When the doctors felt that it was enthesitis-related JIA, I thought, “Okay, now we can make a plan.” But that diagnosis morphed into probable spondyloarthropathy because Grant was showing signs of bowel disease (a condition that is commonly related to spondyloarthropathy). So, we mentally shifted gears. From there, we heard rumblings of systemic arthritis, psoriatic arthritis, urticaria, autoimmune diabetes, episcleritis, and uveitis, to name a few medical conditions. Some of the symptoms related to these other conditions materialized, while others didn’t. Certain symptoms seemed to appear out of the blue, each requiring the opinion of a specialist. As a matter of fact, our son was collecting specialists faster than a 12-year-old boy collects baseball cards! He was seen by doctors in rheumatology, allergy, hematology/oncology, infectious disease, immunology, orthopedic surgery, dermatology, gastroenterology, cardiology, ophthalmology, endocrinology, neurology, psychology, pain management, and ear, nose and throat! It was overwhelming.
Eventually, I learned to focus less on the specific diagnoses (that is the doctor’s job) and more on getting Grant the treatment he needed. Worrying about this syndrome or that subtype changed nothing. Simply put, no matter how we decided to define it to the world, his body was attacking itself. In the beginning, the where, when, and how seemed to change with the direction of the wind. My job was to help the doctors pin down what was going on when they couldn’t observe him, and then help get him the right treatments and the right care at the right time. In comparison, my younger son Evan’s case has been much less complicated, involving a few issues that have been easily managed on the first attempt, with just a couple of doctors in the mix. Like I said, every case is different.
Educate to Communicate
Nevertheless, educating yourself about the different types of pediatric autoimmune conditions can be helpful to communicate with the doctors. One of the best resources I have found is Dr. Thomas Lehman’s book It’s Not Just Growing Pains, which covers all types of JA and related conditions. Keep in mind, there can be quite a bit of overlap from one type to the next, so just because you may see similar symptoms don’t panic and don’t self-diagnose! Use that information to help the doctor.
As an example, lupus runs in our family, and many of Grant’s symptoms (after his first hospital discharge) seemed to mirror cases of lupus that I had researched. Grant did not have lupus, but framing his symptoms in a context that was well known to the doctor helped me effectively communicate what was happening to Grant on a cyclical basis. Doing research, reading books authored by recognized experts, and familiarizing myself with other cases gave me the tools I needed to better convey my child’s situation. Using terms and contexts common to autoimmune disease put me on the same page as the doctors, and we started speaking more of the same language.
Know Your Adversary
Battling an unpredictable opponent is tough. It’s difficult to make a game plan and stick to it. As the enemy changes, so must the plan! One of the best ways to prepare is to learn as much as possible so that you can be ready for any situation. When my husband coached youth and high school football, one of the ways he prepared his team for upcoming games was to watch film taken of the opponent. He didn’t just watch the prior week’s game; he watched all the film he could get his hands on. He observed how they handled each of their opponents, because each game was different.
Juvenile arthritis is different in every child. By observing how other kids act and react to JA, it can give you snippets of the opponent your child will face in his or her battle. Reading about their lives and their struggles is like watching game film for your child. It may not be your particular game, but it shows you what that opponent is capable of and how to prepare against it.
Meet Some of the Other Players
The following are actual accounts shared by families living with different types of JA. Their stories illustrate how diverse the paths to diagnosis and treatment can be, as well as the unpredictable nature of this disease. However, while their stories are different, there is a common thread—hope.
Connor’s Journey with JDM by Anke
In 2005, my husband and I were thrilled to become parents by adopting one-year-old identical twin boys from Russia. The adoption of our boys was such a gift, and they have brought us immeasurable joy, despite the medical challenges we’ve faced. Because our sons were adopted from a foreign country, we did not receive any medical history on the boys or their parents. As we soon learned, this lack of information can make diagnosing health problems more difficult.
Shortly after we arrived home with our sons, the “younger” twin, Alexander, was diagnosed with a tethered spinal cord, which required corrective surgery when he was just 18 months old. He had a dimple on his back that led to this diagnosis, but his brother, Connor, had no outward signs of the condition. However, a few months later, as I was watching a documentary on syndromes that can develop during pregnancy, a warning bell went off in my head.
Since our boys were identical twins, I took Connor in for an assessment. Sure enough, an MRI revealed he also had a tethered spinal cord. Like his brother, he underwent surgery shortly after he turned two. Though the surgeries were stressful, we thought the worst was behind us.
In 2009, as we were preparing for our yearly trip to Germany (where I was born and raised), warnings about the swine flu filled the news. We were told it was even more widespread in Europe and, as a precaution, the boys should receive the H1N1 flu shot. They were vaccinated about three days before our flight, and while we were in the airport Connor started complaining about pain in his legs. We brushed it off as growing pains or the normal aches of a very active five-year-old.
However, during our stay in Germany the pain got progressively worse. I was so concerned that I changed our travel plans to come home early. During the return trip, Connor’s legs were so sore that I had to carry him most of the time. Our first stop upon arrival home was the doctor’s office.
The first diagnosis we received was mononucleosis. We were told to take him home and give him Motrin for the discomfort. But, Connor did not get better. In fact, his condition worsened, and that’s when the “Mommy Bear” instinct kicked in. I took him back to the doctor three more times, until finally a physician’s assistant put me in touch with a neurologist.
Initially, we were worried about a reattachment of the spinal cord, but the MRI came back clear. The next step was a spinal tap to rule out Guillain-Barré syndrome, which can occur after receiving a vaccination. When this test came back negative, Connor had a muscle biopsy done, which confirmed that his muscles were inflamed and he was put on a steroid. We had to wait weeks for the complete results, but in January 2011, we were told that our son had juvenile dermatomyositis (JDM), a rare form of juvenile arthritis. More specifically, JDM is a systemic autoimmune disease that causes inflamed and weakened muscles, among other things.
We had a diagnosis, but we did not have the answers we needed to make Connor better. The steroids didn’t make a dent in his condition, and Connor declined at a rapid pace. Taking matters into my own hands, I began to research this disease. My husband and I agreed that we would take Connor anywhere in the world to find the help he needed.
I have to admit, the more I learned about JDM, the more fearful I became. But, then I found a ray of hope: the leading doctor for JDM, Dr. Lauren Pachman, was not a world away but working at The Children’s Memorial Hospital in Chicago. I e-mailed her immediately. By this time, Connor was unable to move. He could not walk or lift his arms to feed himself. He would choke when given food and cried when he was touched due to his inflamed muscles. So, you can imagine how relieved I was to get a response to my e-mail within fifteen minutes!
Dr. Pachman told us that Connor must be admitted to a hospital as soon as possible. We packed in haste and flew to Chicago that same afternoon. Little did we know we wouldn’t see our home again for almost eight weeks.
After Connor’s long hospital stay, his condition improved. He still needs regular physical therapy and lots of medications to keep him stable, but he’s doing much better.
While I’m comforted by the fact that we did everything in our power to save Connor’s life and get him the treatment he needs, I feel guilty that so much of my focus went toward Connor and not equally on Alexander. I can recall many times when Alexander felt left out as cards and gifts arrived for his brother, while he spent long hours in waiting rooms.
Looking back, I realize that the more Connor was unable to move, the more Alexander moved! A huge part of why Connor fought back so hard against JDM was the fact that his brother motivated him. Like most twins, the boys are very close and share similar traits. As a result, we were invited to be part of a Twin Research Study at the National Institutes of Health in Washington, DC. We are very interested to learn about the possible genetic links regarding JDM, as well as the role of environmental factors. Of course, if JDM is genetic, we worry about what (if anything) may trigger JDM in Alexander.
For now, we are just dreaming of remission or, better yet, a cure! Our boys are now almost nine years old and have found art and painting a great way to express their thoughts and emotions. While it makes me sad to think of the many challenges they have both faced in their young lives, I am also proud of and inspired by their strength.
Dreaming of Running by Lori
Our son, Noah, was a typical nine-year-old boy who loved playing sports of all kinds. Even as a toddler, he showed extraordinary balance and seemed to excel at every activity he attempted. Among his talents was a natural ability to shoot a basketball, and, eventually, he chose that as his main sport. Noah loved playing basketball and people loved to watch him play.
One day, as I watched my son on the basketball court, I noticed he was running “funny” and seemed to be moving slower than usual. After the game, Noah mentioned that his hip was bothering him, which would account for his awkward gait. I chalked it up to him being very active, along with growing pains. However, as the weeks went by, his pain did not subside, so I took him to the pediatrician, who concurred that it was growing pains coupled with activity.
Over the next two years, Noah’s symptoms were mild and intermittent. He was still able to play sports, but not nearly with the intensity he once did. At the age of 12, he began complaining of knee and ankle pain and told me his hip was hurting more than usual. I became very concerned when I noticed his knee and ankle were swollen, but again, the pediatrician told us she thought it was due to Noah’s rigorous sporting activity and diagnosed a ligament injury. The doctor wrapped his swollen ankle, gave him crutches, and told Noah to stay off it for a while.
Initially, this seemed to work: The swelling went down and the pain improved. I thought he was getting better. Then one evening Noah returned home from a bike ride and could hardly walk. I remember watching him struggle to take each step. He looked at me and said, “Mom, there is something seriously wrong with me. I can’t even walk and I’m hurting all over.” When I looked down, I could see that both his feet were swollen. That’s when I felt the first twinges of panic.
This time I was unwilling to accept the diagnosis of a sports injury, and I pushed the doctor for further testing, which included blood work and an MRI of his knee. Meanwhile, Noah had begun to dread mornings. He was waking up so stiff that he could barely move. He had to rub his hips, knees, ankles, and feet with Mentholatum cream just to get going. I remember dropping him off at school and watching him walk gingerly into the building. His gym class was first on the schedule, and he could not participate in any activities. It was heartbreaking to see him standing on the sidelines.
When I picked him up at the end of the day, his muscles seemed looser and he could move with more ease. Thankfully, he was still able to play on his travel basketball team, but he had trouble running due to his sore feet. As you can imagine, we were confused and frustrated!
At last the doctor called with Noah’s test results. His blood work showed an elevated sedimentation (sed) rate and anemia; but honestly, she didn’t seem very concerned. She thought the elevated sed rate was the result of a virus and suggested the anemia may be due to poor nutrition. Neither of these explanations sat well with me because Noah had not been sick and he ate a fairly well-rounded diet. However, I took her advice and began giving him vitamins and iron supplements. It wasn’t until the results of the MRI came back that the doctor became noticeably concerned. In addition to inflammation, Noah had three unidentified nodules on the back of his knee. We were immediately referred to both an orthopedist and a pediatric oncologist.
The thought of seeing an oncologist was extremely stressful. You see, I was just getting over treatment for an early diagnosis of breast cancer, and the idea of my son going down that road was unbearable. But one step at a time … the orthopedist examined Noah’s MRI and seemed baffled. He asked a trusted colleague for a second opinion, who told him the nodules were swollen lymph nodes and suggested we see a pediatric rheumatologist. The combination of inflammation, elevated sed rate, and anemia suggested a rheumatologic condition. Finally, I felt as though we might be getting some long-awaited answers.
Before we had a chance to see the oncologist, he called to say he agreed that the nodules were swollen lymph nodes. I breathed a sigh of relief, but there was still a great deal of uncertainty as to what the rheumatologist would find. Our feelings of apprehension were alleviated somewhat by the warm greeting and comforting words of this doctor. She looked at us and said, “I’m glad you’re here, because we’re going to help Noah feel better.” At long last, words of hope.
All the pieces of the puzzle came together at that appointment. Noah’s elevated sed rate was due to active inflammation. The lymph nodes were trying to rid the body of the inflammation, which is why they were swollen. Within minutes, the rheumatologist told us Noah had juvenile enthesitis-related arthritis, which causes pain, swelling, stiffness, and loss of motion in the joints. Enthesitis refers to swelling or inflammation where the tendons or ligaments attach to the bone. We also learned this type of JA affects boys more than girls. In Noah’s case, the arthritis was present in his wrists, fingers, one elbow, both his hips, knees, ankles, feet, and even his toes. The good news, the doctor assured us, is that this disease is treatable.
I remember walking out of that office feeling like I could breathe for the first time in months. Though the diagnosis was difficult to hear, my husband and I felt confident we were finally at the right place to get Noah the help he needed. Of course, when it comes to treating JA, there are many different approaches. We started with injections of methotrexate, which is a drug used for chemotherapy. When used in small doses it has been shown to help slow down the immune system from attacking itself—which is what arthritis does. Noah did not like the idea of needles, but was willing to do whatever it took to feel better. Unfortunately, after eight weeks, it was determined this particular drug was not improving Noah’s condition.
Our second course of treatment involved steroid injections, which were very painful for Noah, but again, he was such a trooper. And it seemed to work. I remember sending the doctor a message that said, “My son is RUNNING down the hall!” It felt like a miracle—for about two weeks. When the pain and stiffness returned, we all became very discouraged. In addition, the inflammation had begun to affect Noah’s growth.
Trial and error are par for the course when it comes to treatment, so we tried a new path. Noah was given an anti-inflammatory along with a biologic drug. It involves a weekly injection, and because it suppresses the immune system, he has a greater chance of developing infection. Another side effect is the increased potential to develop cancer. While the side effects are scary, we decided that getting our active, happy boy back was worth the potential risks. Two weeks after he began the injections, Noah was waking up without stiffness and able to play basketball again. After six weeks, his sed rate had dropped and he actually grew two inches!
In July 2012, the doctor put him into official remission status, which meant he no longer had signs of active disease. If we can go two years without any symptoms (flares), she would start scaling back the medication. She also referred Noah to a physical therapist to work on his range of motion, strength, and balance. In September 2012, Noah ran his first 5K Mud Run.
At the height of his pain, Noah would sometimes wake up and tell me he had dreamed of running. I assured him that he would be able to run again one day, but I had no idea when. To see him active again is truly a blessing. There are times when Noah forgets he has JA, and other times when pain and stiffness are reminders. We have to be very diligent about good hygiene and preventing illness due to his suppressed immune system. But for now, we remain hopeful and confident that we have the right doctor to keep us on track.
Freeing Zoe by Natalie
Confronting my child’s illness, one that is confusing and forever changing, in a language that is not my own, has been the most difficult experience in my life. Our daughter Zoe has always been a bit fragile. She suffered continuously with sinus infections since birth. Moreover, she wasn’t growing at a “normal” rate. Since all my children were small, I really didn’t worry too much when the doctor told me he wasn’t happy with her weight gain. I breastfed her and thought maybe the weight charts were based on bottle-fed babies. However, she was classified as “failure to thrive,” and I was instructed to introduce certain formulas to her diet, which I did, without much improvement.
After Zoe received her one-year vaccinations, she became very sick. Her temperature soared, and she was lethargic and had diarrhea for four days. We put it down to a reaction to the vaccine and didn’t think any more about it.
We were living in France, and the following month we were heading off to Australia to visit family. At 14 months old, Zoe had finally started walking. But, within a week, she suddenly stopped. To be honest, I thought perhaps she was just being lazy. However, three weeks later, as we arrived back home, Zoe was no longer standing up or even crawling. If she wanted to move around, she would slide on her backside or stomach. She had also begun to spike fevers in the afternoon, which would subside after a few hours. Most concerning was her inability to sleep: She would wake up crying six or seven times each night. Once I changed her position, she would fall back asleep.
By the end of August things had gone from bad to worse. Zoe was crying continuously, hardly eating or sleeping, and was extremely fatigued. She would bend up her legs and scream whenever we changed her. Unfortunately, our pediatrician had recently retired, so I took her to see my husband’s doctor. He listened to my complaints, weighed her, listened to her chest, and said “She looks fine. If she isn’t walking in a month come back and see me.” I walked out of there thinking he didn’t take me seriously.
Three days later, my husband had his day off and as Zoe lay there, immobile, I pointed to her and said, “Look at her; she isn’t moving because she can’t, not because she doesn’t want to!” Filled with concern and frustration, I asked my husband to come back to the doctor with us. This time the doctor seemed to take us seriously. He gave us a referral for an X-ray and an ultrasound for her hips, both of which revealed nothing. The doctor assured us Zoe was fine.
A few days later we ran into Zoe’s old pediatrician at the market and spoke to her about what had been happening. Her reaction was much different. She told us to leave the shopping and pack a bag because we needed to go to the hospital now.
Six weeks after the initial doctor’s visit, Zoe was finally admitted to the hospital. By this time, she was unable to physically move by herself. I refer to this time as Zoe’s “stuck period.” In addition to being very sick, she seemed to be trapped inside her own body, and all I wanted to do was set her free.
After numerous tests, the head of pediatrics told us he thought Zoe had a form of juvenile arthritis, but in order to confirm the diagnosis she would need to go to a hospital for rare diseases for children in Paris. In the meantime, they prescribed ibuprofen four times a day. It took another six weeks to receive the final diagnosis—systemic onset juvenile idiopathic arthritis. We learned that her ankles, knees, hips, wrists, elbows, shoulders, lower back, and neck were involved. We also learned that she had inflammation in her liver, lungs, and spleen, which was also affecting her blood.
Trying to sort through what I was being told, translate it into my own words in English, and then understand it was overwhelming. At that point, I just wanted to get on the next plane and take my baby home, where I could make sense of the situation and perhaps feel more in control. After all, knowledge is power … or so I thought. The reality is this disease is so complex that even if I was being told in English, French, or Chinese, I would still not fully comprehended the implications. How could my baby be given a life-changing diagnosis? How can any parent comprehend the fact that their child will experience chronic pain every day for quite possibly the rest of her life?
Since there is no cure, our focus turned to treatment and pain management. We learned to give our daughter a daily injection, which was as painful as a wasp’s sting. Zoe was just 17 months old when we started that treatment—and only 19 months old when the treatment failed.
The next course of treatment involved admission to the hospital for a biweekly infusion. Additionally, for the next two years, Zoe had five days of physiotherapy and hydrotherapy each week. She is now down to two days a week. However, thanks to this treatment, she is now walking, running, and jumping like other three-year-olds.
Of course, it’s not always smooth sailing. Zoe is often sick due to her immune system being suppressed (a side effect of the treatment), and recently we have found that her medication is not working as well as it should be. I have learned to take one day at a time and be grateful she can now move around with less pain. Her spirit shines bright and we remain hopeful.
From Head to Toe (Cameron’s Story) by Angela
It was August 2009, and our son, Cameron, had just started the third grade. Since it’s not uncommon for kids this age to “share” a variety of illnesses, I wasn’t particularly worried when I noticed a red, itchy spot on his scalp. The pediatrician took one look at it and diagnosed ringworm. We went home with some nasty-smelling medication, which we finished without improvement. So, we returned to the doctor’s office for another prescription, and we were told to be patient.
A few days later, I noticed that Cameron was walking funny. He was not putting his right heel on the ground when he took a step. As I watched more closely, I saw that he couldn’t straighten his right knee. It was swollen and he told me it hurt. Back to the pediatrician we went. This time, we were advised to try an over-the-counter NSAID.
As the weeks went by, the pain and swelling in Cameron’s knee did not improve. Because I didn’t want to wait to see our regular doctor, we took an appointment with a different pediatrician within the practice. After listening to our story and examining Cameron, she immediately suggested that we see a pediatric rheumatologist. I remember being surprised by that suggestion—what did she think it was? The doctor went on to explain that it could be a type of reactive arthritis (Cameron had strep throat just before school started), but she wanted to have him checked out. (Later, I found out this doctor also has psoriatic arthritis.)
When I called the department of rheumatology at our local children’s hospital, I was speechless … they couldn’t fit our son in until February or March, which was five months away! Because his knee was so swollen and painful, I told them I really didn’t want to wait that long. Thankfully, they called another children’s hospital about 90 miles away and got us an appointment two weeks later.
In the meantime, I remembered an online friend who has a child with arthritis. Even though we didn’t have a diagnosis, I was anxious for more information. It was such a blessing to have someone to talk to who understood what our family was going through. Her child has psoriatic arthritis, and she was and still is very supportive!
At our first visit with the rheumatologist, Cameron was checked over thoroughly. It was brought to my attention that the ringworm we were treating was more than likely not ringworm, but psoriasis. She also noticed Cameron’s nails. When he was about two years old, I had asked his pediatrician why his nails had so many pits in them and was told not to worry. As it turns out, he had the classic nail pitting found with psoriatic arthritis. Combined with the spot on his scalp, this led to a diagnosis of juvenile idiopathic arthritis (JIA)—psoriatic subtype. Psoriatic JIA is a disease of the immune system that causes raised red patches (psoriasis) on the skin, as well as pain, stiffness, and swelling of the joints. It can literally affect someone from head to toe. Left untreated, it can cause progressive joint damage. Cameron was also diagnosed with joint hypermobility syndrome, which means his joints can easily move beyond the normal range.
Our first step was to have Cameron’s knee drained and injected with a steroid. When we arrived for his injection, the doctor noticed that his left knee had also started swelling, despite the fact that he had been taking naproxen for weeks. So, while he was under general anesthesia, she treated both knees.
At our follow-up appointment a month later, both of Cameron’s knees were doing better. However, he had complained several times of some slight pain in his jaw while chewing. The doctor immediately scheduled him for an MRI, which revealed active arthritis on both sides of his jaw. We were shocked to find that he already had noticeable bone erosion! At that point, he started taking methotrexate along with a biologic drug to stop further damage to his joints.
He began his injections in late January 2010 and received his last injection in September 2012. Since then, he has been declared in remission. Cameron still has flares of psoriasis on his scalp and pain in his joints from time to time, but there is no active arthritis. While I’m thankful for his remission, I still hold my breath every time he complains of pain and each time we see the rheumatologist.
Recently, Cameron has been experiencing tachycardia (fast heart rate). When he goes from lying down to standing up, his heart rate shoots up, and he complains of a headache, dizziness, and what he calls “funky” vision. According to the rheumatologist, there is a documented link between hypermobility syndrome and postural orthostatic tachycardia syndrome (POTS). As a result, we are currently awaiting an evaluation with cardiology.
I find myself thinking about Cameron’s future often. He will always need to be monitored for his arthritis and his psoriasis. I worry about whether his children will inherit this disease. I wonder if he will be able to do all the things he wants to do. Will his psoriasis get worse and affect other areas of his body? What are the long-term effects of the medications he has taken? These are just a few of the questions that swirl through my mind. But, thinking about these unknowns can make a person crazy, so I remind myself to take a step back and appreciate where he is today. Cameron is currently living without active arthritis. He is happy and doing well in school. And I have learned to live one day at a time.
Noah’s Story by Caroline
When the oldest of our three boys was ten years old, he was a very active and talented baseball player. Noah had been playing baseball since he was four years old and had been selected to Little League All-Stars every season, as well as a travel team. He could play any position and, according to his coach, had the “best glove on the field.” He was also the fastest runner, which is why it became concerning during his second season when he started complaining of being stiff in the mornings, having trouble running, and experiencing pain in his gluteal muscles (three muscles that comprise the buttocks).
Sometimes Noah would also complain that his lower back hurt, but mostly it was a vague pain and stiffness in his right gluteal. When he was catching for his team, we noticed he couldn’t hop up from a squatting position and he looked very stiff. Mornings were the hardest.
We took him to his pediatrician who referred us to an orthopedist. They took X-rays of his pelvis and didn’t see anything. Based on these results, as well as his examination, the doctor felt it was simply growing pains. This seemed plausible since, over the next year, Noah would have good days and bad days. Sometimes he felt great, hitting and pitching well, with no pain or stiffness. Other days he would say his shoulder hurt, he felt pain when he swung the bat, and his hip ached when he pitched.
Still concerned, we took him to a sports medicine doctor who X-rayed his shoulder but, again, found nothing. The doctor did say that he was surprised our son was a pitcher 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.
