During the summer of 2013, my husband Kyle and I noticed a change in our 7 year old daughter, Adelyn. She was normally a happy, spunky and very active little girl. All of the sudden, she was complaining about most physical activity and was tired all the time. Around the same time we noticed a rash on her face and chest. It looked like a sunburn that didn’t seem to fade. She would complain about being tired after doing the simplest things. She even struggled walking and climbing the stairs. She still wanted to play and be active but couldn’t last long. She would take breaks when playing outside and sit down with us while all the other kids were still running around. We were so confused by the change in her behavior.
During a neighborhood parade on the 4th of July, Adelyn was in tears. She told me that she couldn’t ride her bike anymore and she didn’t want to cry and be embarrassed in front of her friends. She was also worried about the swim team. She was formerly a strong swimmer but began swimming slower and slower every week. At the final meet she could barely make it across the pool. She even struggled to get out of the pool at the end of the race. I remember how Kyle and I looked at each other and knew there was definitely something wrong. She also had that sick look in her eyes. I called the pediatrician and scheduled her an appointment.
One day we were walking to the mailbox and Adelyn said she didn’t think she could walk any further. When I asked what she meant she said, “I don’t know, Mom, it’s like my body is telling me I can’t do it.” Looking back that was such a profound statement. Her body wasn’t working the way it should.
At her appointment, the pediatrician asked a lot of questions and looked at her skin. She noted the rash on her face, eyelids, knuckles and chest. Adelyn explained that she was tired all the time and couldn’t do certain things. That morning I noticed she couldn’t squat down and tie her shoes. She also fell on the stairs twice that day. Her doctor googled sites and compared pictures of her rashes. She told me she was thinking of a certain disease that affected the muscles and skin but was doubtful because it was so rare. She had only seen one case and it was many years ago in medical school. She wanted to run some labs and recommended we make an appointment with a rheumatologist, just in case. I took her for blood work and waited to get the results.
A couple days later I received a phone call from her pediatrician. I will never forget that day. She said that Adelyn’s labs came back and she thought Adelyn had a disease called Juvenile Dermatomyositis. The doctor said that Adelyn’s lab results were very elevated and showed unusually high activity in her muscle enzymes. She was surprised that Adelny was functioning as well as she was, and wanted to get her into a rheumatologist right away, so that they could do further testing. The doctor explained that Juvenile Dermatomyositis (JDM) is a rare, chronic and life-threatening autoimmune disease that causes your own immune system to attack healthy tissues and cells. Adelyn’s immune system was mistakenly attacking her blood vessels, muscles and skin. When I started asking the doctor questions, she said that it was very serious and that it could cause pain, weakness, inability to walk, and organ failure. It was affecting Adelyn’s muscles and skin, but could also affect her breathing and swallowing. I was completely overwhelmed when I got off the phone, I sobbed as I tried to explain what I could to my husband. I remember him saying, “I wish I could take this from her. I wish I could trade places with her!” I felt the same way. As a parent you would give anything to take the pain away from your child. If you could trade places with them, you would do it in a heartbeat.
The next day the rheumatologist got her in first thing in the morning. The doctor asked a lot of questions, tested Adelyn’s muscles, watched her move and did a series of blood tests. The diagnosis was confirmed and they ordered an EMG and a MRI. It’s amazing how a child compensates and gets by regardless of how they feel. There were several things I didn’t realize Adelyn was struggling with because she always found a way to do them. When the doctor asked her if she could sit down and get up off the floor she said that she could. We realized she couldn’t get up on her own but she found a chair and pulled herself up. I remember being overwhelmed as the rheumatologist went over all the information. She explained that doctors don’t know exactly what causes the disease but they think it could be a combination of a dysfunctional immune system, genetics and exposure to certain infections. They also believe the ultraviolet rays from the sun increase the chances of a child with genetic predispositions to develop JDM. She encouraged Adelyn to wear sunglasses and to avoid long periods of exposure to the sun. She stressed the importance of wearing sunscreen every day, which she will have to do for the rest of her life. She explained that the sun is a trigger for her disease and in some cases even the UV rays in fluorescent lights can cause a flare. She also told us that a virus or infection can cause a flare and we should keep her from getting worn down. She continued to explain that due to the inflammation and damage in her muscles, she would have to limit certain activities. She went over a variety of medications that Adelyn would start taking immediately.
Adelyn didn’t know how to swallow pills yet so that was a new struggle that she had to overcome. She would try and try but couldn’t get them down. I remember talking to the pharmacist and the nurse about different options but Kyle said he knew she could do it. He watched a video on the Mayo Clinic website and they started practicing with candy. Kyle told her he’d give her $20.00 if she could swallow her pills and she had it down later that day. She was so excited to tell the doctor and nurse that she learned how to take her meds.
The next few days were overwhelming. One of Adelyn’s test was called an Electromyogram (EMG, which is a test that uses needles inserted into the muscle to measure their electrical activity. It can help determine whether the muscles are abnormal. The nurse explained that it would be very painful and looked at us with sympathy as she told me what Adelyn was about to go through. I held her hand as the nurse inserted the needles and ran the test. It broke my heart as she lay there with tears rolling down her cheeks but she didn’t move or complain.
With her MRI, the schedulers were having trouble finding an available appointment for an MRI under sedation. Her nurse told me after spending the day with Adelyn, that she and the doctor decided that our daughter was a very mature 7 year old. They thought she could do the MRI without sedation. I approved it and they got her in right away. She did great. She laid perfectly still for 50 minutes during the MRI. When they pulled her out, she was sweating profusely. She was wrapped in a blanket and got so hot inside. She never said anything because she was told to stay very still. We all felt terrible. That was the first of many MRIs.
While Kyle and I had many concerns, one of Adelyn’s biggest worries was how she would sit “criss-cross applesauce” in 2nd grade. School was getting ready to start and they sat with their legs crossed during circle time. Because her muscles were so inflamed she couldn’t cross her legs to sit in that position. She also worried about what she would be able to do in PE. I told her that we would figure it out and come up with other options. During the day she was happy and positive, but at night she would express her worries and question why this was happening to her.
Over the next several months she regained her strength and her rash started to fade. Her rheumatologist let her stay in sports but she had limitations and couldn’t overdo it. Kyle helped coach soccer so he was able to monitor her. Letting her stay active was so good for her spirit. The meds were helping but we started seeing side effects. The high dose of daily corticosteroids made her gain weight. She had a puffy rounded face and new growth of hair on her body. Those things really bothered her.She seemed to tolerate all her medications well and was getting back to her normal self. As she improved, the doctor started tapering the dosage of one of her meds. The goal was to slowly taper and eventually eliminate one medication at a time.
About 7 months after the diagnosis, Adelyn broke her wrist roller skating. That was the beginning of a new battle and over time she broke several more bones. One fracture would heal and then she’d break another bone. We learned that brittle bones can be a side effect of some of the meds, but the doctor hadn’t seen this many fractures with her other patients. After many appointments with her orthopedic doctor, physical therapist and rheumatologist, they decided to send her to Children’s Mercy to see a bone and mineral disorder specialist. They also referred her to an endocrinologist.
At her endocrinology appointment her doctor decided to do a bone age test. She was 10 1/2 but had the bone age of a 7 year old. Her endocrinologist explained that some of her medications and/or a serious illness, such as JDM, could have caused delayed growth. She also explained that in some cases, kids just develop and grow later. There were so many unknowns. The bone and mineral disorder specialist ordered more blood work and a bone density test (also called a DEXA scan). It was slightly abnormal so the doctor discussed the option of starting Fosamax, a bone-building drug. After discussions with her other doctor, we decided to wait and monitor her. We were all worried about her starting another strong medication. The doctors agreed and we waited.
Approximately 6 months later, she had another DEXA scan, which showed her bone density had gotten worse. She also had more fractures in the interim, so we decided to start treatment. The doctor recommended Zometa intravenous infusions. She would have a series of 30 minute infusions for the next couple months. She did great during the infusions but had negative side effects for a couple days after the procedures. She felt dizzy, nauseous and achy. It was hard to see her so miserable. I was afraid she’d be hesitant to have more infusions, since it made her so sick. However, she was ready for the next one. She said if it helped her from breaking more bones, then she was all for it. I loved how nothing seemed to get her down for long.
Adelyn ended up with a combination of 14 fractures and bone contusions. She was in and out of casts and splints in 2014, 2015, 2016 and 2017. It was so hard on her every time she missed another season of sports or activities with her friends. She was devastated after each broken bone and I always worried if this ‘one more thing’ would break her spirit. However, she always woke up the next morning with a good attitude and rarely complained about it after that. She never let a cast slow her down. It was as if it became her new normal. I remember yelling at her to get out of the tree as she was climbing it with a cast or telling her to stop playing kickball as she was running bases in a CAM Walker boot. She went through several casts because she would continually wear them out or crack them. Thank God for insurance and waterproof casts!
One day I got a call from the nurse at school because Adelyn fell at recess. She was playing football in her boot from a broken foot and stepped back to catch a punt. She tripped in her walking boot, fell backwards and caught herself with her hand. She ended up breaking 2 bones in her wrist. Her orthopedic doctor and nurse lectured her about playing football with a broken foot but couldn’t help but chuckle at her tenacity. We all loved her spirit but wanted to lock her up or wrap her in bubble wrap.
Over time she had several more bone density tests. Initially she was diagnosed with Juvenile Osteopenia. Then later, based on her bone density test results and number of breaks, she was diagnosed with Idiopathic Juvenile Osteoporosis (idiopathic means unknown). They weren’t sure why she seemed to be getting worse even though she had been off the steroids for a while. Her other meds could slow her healing process, but the doctor didn’t understand why her bone density continued to decrease.
At one appointment her scan results showed improvement and it had been a while since she had any fractures. We, however, were devastated to find out that her bone density decreased at her follow up appointment. It was an emotional rollercoaster. The doctor recommended more Zometa infusions. After prayers and discussion, Kyle and I decided to hold off. She seemed to be doing better and we were worried about the long term side effects of all her meds. As a parent, it’s hard to know if you’re making the right decisions, but sometimes you have to go with your gut. We decided to wait until her next appointment and review the results at that time. After 6 months, her bone density had improved and her labs were normal. We were so happy with our decision to wait. The bone doctor is still monitoring her but she seems to be doing well. Thankfully, it’s been 8 months since her last broken bone and her scans continue to show improvement.
Adelyn is now 12 and still taking medications for her JDM. She has blood work every few months and the doctor runs a series of tests. However, her rheumatologist just weaned her off one medication and is in the process of tapering another. The goal is to get her off all of her prescription medications and to see how she responds. Since there is no known cure, our goal is to hear the magic word “remission”.
One of the many struggles with JDM is that it’s so rare and still not widely understood. We are optimistic, but as parents, we will always worry. Adelyn will always have to be careful in the sun. We will be nervous every time we send her to camp or the lake or the pool. We will worry about whether she’s getting worn down or if she seems overtired or when she complains that her muscles are sore. At every doctor appointment, she is reminded of the importance of limiting sun exposure, wearing sunscreen, staying healthy and listening to her body.
It has certainly been a long journey, but we have so much to be thankful for. We are so grateful to her pediatrician who took the time to ask questions, research and remember one single case she observed many years ago. She knew what to test for and immediately got Adelyn to the rheumatologist and started with treatment. Since then, I’ve connected with other JDM moms and learned that so many kids go undiagnosed for so long. It’s such a rare diseases that often times the doctors have never seen a case before. The longer they go without treatment the worse they get. Some kids end up in wheelchairs and are unable to walk or sit up for long periods of time. We’re also thankful for the wonderful specialists here in Kansas City. There are several families who have to travel long distances for treatment. Her local doctors and nurses have been amazing. We’re especially thankful for Adelyn’s strength and positive attitude. She’s been a warrior from the very beginning. She’s had multiple doctor’s appointments, physical therapy appointments, blood tests, X-rays, MRI’s, CAT scans, infusions and daily medications. She’s missed a lot school for appointments but has never had an issue keeping up with her homework and continues to get straight A’s. For the most part, Adelyn is a normal kid and you’d never know the struggles she’s faced. We are so proud of her. She is active in sports and enjoys swimming, basketball, volleyball and softball. She’s involved in multiple school activities including Fellowship of Christian Athletes, theatre, music and the gifted program. She loves reading, football and spending time with family, friends and her golden retriever, Xylie. She is funny, smart, beautiful and resilient.
Lastly, we are so thankful for family, friends and our faith in God. We’ve always had a strong support system praying for Adelyn and wrapping their arms around her. We’ve felt their love after every procedure, appointment or injury. Even during the hard times, we always knew God would take care of her. We explained to her that God wasn’t causing her illness or injuries, but he would always be there to get her through them. We are thankful every day for things that others may take for granted. We don’t know what her future holds health-wise, but we’re confident that she will get through it and handle it with strength and perseverance.
7 Billion One’s vision is to change the world through people and their stories. I hope Adelyn’s story somehow heals, changes and empowers others. She changed our lives and we’re thankful for that gift.