Maddie's Personal Story
Madelyn was diagnosed with Juvenile Dermatomyositis in February of 2013 when she was 4 years old.
“Juvenile dermatomyositis is an inflammatory disease of the muscle (myositis), skin and blood vessels that affects about 3 in 1 million children each year. The cause is unknown. The primary symptoms of JDM include muscle weakness and skin rash. All age and ethnic groups are affected. Most cases start in children ages 5 -10 and adults ages 40-50. Women are affected about twice as often as men.
Patients with juvenile dermatomyositis (JMD) develop weakness in the large muscles around the neck, shoulders and hips. This causes difficulty in climbing stairs, getting into cars, getting up from a chair or off the floor, or brushing hair. Most patients have little, if any, pain in their muscles, which distinguishes them from patients with other forms of muscle disease. Many patients with other conditions complain of weakness; however, when questioned closely, they really mean that they are tired, short of breath or depressed rather than suffering from true muscle weakness.”
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Her symptoms began the summer before, however. Maddie first started with a rash on her face. We took her to the pediatrician and the doctor diagnosed her with Fifth’s Disease and said that it should go away in a week or so. The rash did not go away and in fact, it got worse. At the end of the summer the doctor recommended that we see a dermatologist. The dermatologist diagnosed her with eczema and prescribed different steroid creams over the course of 5 months.
In January we noticed strange bumps on all of Maddie’s knuckles (we now know they are called Gottron’s Papules). When we went to the dermatologist in February 2013 I mentioned the knuckles, never dreaming that they had anything to do with the rash on her face. The doctor immediately froze, sat up straight and started drilling me with questions-- is she weak at all? No. Can she dress herself? Yes. Does she trip and fall a lot? No, well she is 4 and maybe clumsy? Does she complain of leg pain or muscle pain or want to be carried a lot? She did not complain of pain, but she would say that her legs were tired and would ask to be carried quite a bit. We thought it was a result of Maddie having a 2-year-old sister and she was jealous and wanted to be carried (like we did with her sister).
The dermatologist immediately went out into the hallway and called in another doctor and a nurse and ordered her to bring the camera.?! The 3 of them were intrigued by Maddie and they looked all over her body, and it turns out she had subtle bumps on her knees and elbows as well. The nurse took pictures of all the bumps, her fingers and her face and the doctors discussed what they were seeing. I had no idea why a rash was so fascinating; it’s just a weird rash, right? Wrong. The doctors ordered blood work and immediately made a call to pediatric dermatologist that they knew at Columbia-Presbyterian in NYC and she agreed to see us 2 days later.
Since then Maddie has had endoscopies, swallow tests, numerous x-rays, bone density tests, MRI’s, pulmonary function test, and many others (many of these tests she has to do yearly to be sure her organs and other major muscles-such as her heart- aren’t affected by the disease). She has been on medication almost continuously for the past 4 years. Twice we have weaned off meds for a month or two, but she quickly started to show signs of the disease and had to go back on medication. Through special testing we learned that Maddie has the chronic form of the disease. This means that remission for her is not easily achieved and she could face many, many years of medications to keep her disease under control. At diagnosis she was on an oral steroid for 11 months, which, as you can imagine, had many terrible side effects. She was on methotrexate for the first 2 years, having to get weekly injections of the medicine. She is currently on plaquenil and cellcept and has been on them almost consistently for the past 2 years. All of the medications have side effects and sometimes we wonder how a medicine that is supposed to keep her alive and healthy can cause her to feel so sick and miserable. Also, the meds are immune-suppressants so they cause Maddie to be susceptible to so many viruses and illness. Keeping up with her schoolwork can get very difficult for Maddie due to absences because of illness and also because the disease makes her so fatigued.
We travel to NYC to Montefiore Children’s Hospital once a month for an appointment with Maddie’s rheumatologist. Maddie really struggles with fatigue due to her disease, as well as, GI issues. She has a stomachache daily and can only eat small meals at a time. Doctor’s are still trying to do more research between the stomachaches and the disease to see why children suffer so much from chronic stomach pain. Maddie’s endoscopies show inflammation of the blood vessels in the stomach, so it is thought that that is the reason for her pain, but because there is so little funding for research for JDM, doctor’s can only assume and they do not have definitive answers or treatment for us.
The Cure JM foundation has been amazing for our family. We have attended the annual conference the last 2 years and have met some amazing families. At the conferences we get to share our fears and worries, and we also get to hear the latest research and future research plans from some of the top doctors in the world who are helping us find answers and hopefully a cure one day.
Because JDM is so rare, the government allocates very little (if any) money to research. A family whose son has the disease founded cure JM and they were astounded at the fact that so little attention is paid to the disease. They have created this amazing foundation that has linked families all over the world and has brought attention to this disease. Our own pediatrician had never had a patient with the disease and misdiagnosed Maddie for almost 8 months. One of its many goals to is to send out information to every pediatrician in the country to be sure that no child goes misdiagnosed. The longer a diagnosis takes, the worse the outcome for the child. Maddie has participated in 3 research studies so far that has been funded by Cure JM. We are hopeful to one-day find a cure!
Maddie has been amazing through all of this. She faces her monthly blood work, doctor’s visits, and medical tests bravely. The sun is very bad for children with JDM. Maddie will tell you that that is one of the hardest parts of the disease. We rarely go outside in the warmer months from 10am-4pm. If she does go outside we slather her with sunscreen multiples times a day, everyday. She has to miss pool parties, and outdoor activities that would have her outside for an extended period of time in the sun.
Maddie has faced so much in her 8 short years, but she will not let that get her down. She loves to talk to people about her disease and tell them about it. Some of her favorite things to do are playing basketball, soccer and with her sister. She loves animals, especially her two dogs and two cats. Maddie amazes us everyday with her bravery and her love of life.