Her son has a rare degenerative muscle disease, but Shermeen is determined that he lives life to the fullest…

“A few months ago ― in September last year ― my usually active 4-year-old boy, J, started to complain of pain in his thigh. My husband and I thought he might have sprained it while playing on the bouncy castle the day before, so reassured him it will go away soon.

After a few weeks, J started limping, especially when he was walking up and down the stairs. He also started showing less interest in his taekwondo class, which he used to be very passionate about. When we asked him why, he complained that there was a lot of kicking and punching in the class. For a while there, we thought he was just being lazy.

As J’s odd behaviour continued, his started having low-grade fevers, which fluctuated between 37.7 deg C and 38.1 deg C. This usually happened every time he woke up from a nap. He also broke out in a rash that resembled insect bites. Fearing that he might have gotten dengue fever, we took him to the hospital, but after checking him, the doctors told us it was nothing to worry about.

J’s fever continued for the next 12 day. In an attempt to cheer him one day up, we took him to a sand playground for a playdate with his friend. But he didn’t want to sit down and instead kept asking his friend to bring the toys he wanted over to him. It was then that we realised something was terribly wrong with our little boy and rushed him down to our paediatrician at Mount Alvernia Hospital and demanded that he be warded.

“I was freaking out on the inside the entire journey to the hospital because I feared the worse and didn’t know how I was ever going to break the news to my sweet boy.”

Our doctor ran a series of tests and asked us lots of questions about J’s blood type and his white blood cell count. We thought it could be leukaemia or lymphoma. Then, they brought in a rheumatologist to check his limbs. Since J’s limbs were warm to the touch, they suspected it could be juvenile arthritis and did an ultrasound to check if his joints were inflamed. As this is an autoimmune disease, J had to do more rounds of blood tests to check if his anti-bodies were overreacting ― a sign of an autoimmune disorder.

After four days in the hospital, J was finally discharged and put on pain-relief meds until the test results came out. During that time, I was frantically googling his symptoms and everything I read pointed to an unknown disorder called juvenile dermatomyositis (JDM) ― a rare and sometimes life-threatening muscle degeneration disease. It’s chronic, there’s no known cure and the treatments sounded harsh and painful. I was hoping that this wasn’t what J had.

Four days later, J’s fever came back. At the same time, we got a call from the hospital to come in and see the doctor immediately. I was freaking out on the inside the entire journey to the hospital because I feared the worse and didn’t know how I was ever going to break the news to my sweet boy. I worried about how he would cope with whatever life was about to throw at him.

Our worst nightmare came true when the doctor told us exactly what we didn’t want to hear. J has JDM and he was going to need long-term medical care. My heart sank, but I knew my son needed me to be strong, so we focused on the next course of action.

The doctors advised us to start him on an aggressive course of treatment. J was admitted to the hospital and put on a steroid IV for the first three days, followed by daily oral steroids to stop the inflammation, which was causing him pain and discomfort. The meds came with side effects, of course ― J’s appetite increased and he started retaining water. Both contributed to his weight gain. He also started growing more hair all over his body.

Right now, he has weekly methotrexate (MTX) shots. MTX is a chemotherapy agent used to treat cancer, but in J’s case, it works as an immune system depressant and helps stop the anti-bodies from acting up. He gets a jab in his thighs once a week. He’s been taking it for almost two months now, and since the effects can only been seen after eight doses, we should hopefully be seeing some improvements soon. J has to be on it for the next two years, and sadly, it does result in hair loss, although he hasn’t realised it yet.

“J does get disappointed when he’s unable to do something or do it fast enough. This has resulted in more tantrums.”

It’s been a hard few months and my son’s little body has been put through the wringer with tests and strong meds. But it’s important that we control the illness, because there’s always a risk that it might flare up and lead to cancer in adult life.

Although JDM usually results in severe skin problems as well, the silver lining is that for my son, it’s only concentrated in his muscles. However, because of the pain he’s feeling, he’s still not willing to move as much as he should and isn’t cooperative during his weekly physical therapy sessions.

If he doesn’t use his muscles, it could lead to muscle atrophy ― a decrease in muscle mass. So, we are pretty insistent that he moves, even when we’re at home. Instead of always giving in and carrying him around, we give J small milestones he has to achieve, so that he doesn’t feel too overwhelmed. For example, he will have to walk from the door of our apartment to the lift or from the room to the toilet. I even give him simple chores to do, like putting his dirty clothes in the hamper. Every time he moves, however small, it helps his condition. Keeping his activity levels up will also help reduce the weight he’s putting on.

J is not always cooperative and he does get disappointed when he’s unable to do something or do it fast enough. This has resulted in more tantrums. Although he has never verbally told us how upset he is, I can see that my boy is not as happy as he used to be.

We’ve explained his condition to him, although we are not sure how much of it he really understood. He knows he is ill and that he can trust the doctors, who are there to help. This has helped ease his fears during those painful and scary injections.

We try to keep J’s life as ‘normal’ as possible. He still attends kindergarten for half a day and his grandparents take care of him for the rest of the day. All of his teachers and peers have been briefed about the illness and have learnt how to care for him. His friends have been very supportive. However, the meds have taken a toll on his immunity, so he is more prone to falling ill these days.

Another way we try to keep J’s spirits high is to give him things to look forward to. He is very excited that he’ll enter Primary school in a few years, he also wants to go back to taekwondo and become a fireman someday. We tell him in order for him to achieve his dreams, he has to help himself manage his condition and be more active, because he needs his muscles to work in order to do the things he dreams of.

J’s condition and the constant visits to the hospital have also taken a toll on me and our family life. We are still trying to figure out how to manage everything. Neither I nor my husband can stop working to be there for J all the time as we are both supporting our parents. However, my bosses and colleagues have been very understanding ― I can work from home as and when it’s needed.

As a mummy blogger, I also find it therapeutic to write my thoughts and feelings down on my blog and the support I get from my followers has helped greatly. We’ve also had friends reaching out to offer help ― they set up playdates to keep J busy. As a family, we are staying positive by giving thanks for what we’ve got and choosing to be grateful daily for the love and warmth that’s been showered upon us.”

Shermeen, who is in the marketing industry, is mum to J, 4. She blogs at meeningfully.

“The meds have taken a toll on his immunity, so he is more prone to falling ill these days.”

Juvenile dermatomyositis the facts

Dr Tan Siew Kiang, a specialist in dermatology at Raffles Hospital, sheds light on this extremely rare condition.

* JDM is a rare autoimmune condition that causes inflammation in the skin, muscles and blood vessels in children younger than 18 years. Most cases start in children aged 5 to 15 years old.

* It affects about two to three in 1 million children each year. In 10 years, we’ve seen only two such cases.

* The exact cause of JDM is unknown. Studies suggest it’s an autoimmune condition with environmental triggers. Patients usually do not have family history of JDM.

* Primary symptoms include muscle weakness and skin rash. Patients with JDM also develop weakness in the large muscles around the neck, shoulders and hips. This causes difficulty with everyday tasks such as brushing hair, climbing stairs, getting into cars, getting up from a chair or off the floor, or being susceptible to frequent falls.

* Patients may also develop bluish-purple or dusky red rash over the eyelids, skin around the nails, knuckles, elbows, knees, chest and back. Other symptoms include difficulty in swallowing or breathing, fatigue, fever and weight loss.

* JDM cannot be cured, but treatment is generally effective, with very low mortality rates reported. Patients usually respond to treatments within one to two months and regain muscle strength. Rashes resolve with treatment.

* The child should be able to attend a regular school. Some do go into remission after two to three years of treatment. Others suffer relapses, while some have permanent muscle weakness and stiffness and require lifelong treatment.

* To prevent permanent muscle weakness, it’s important to get an early diagnosis as well as stick to the treatment plan. As the latter can be a chronic problem, regular exercise is important to regain and maintain strength. Patients should also eat a well-balanced, nutritious diet and maintain a healthy weight.

* Although uncommon, a patient’s whose heart or lungs are affected may die from complications. Some patients may have suffer associated cancers such as lymphoma and leukaemia.

Photos: iStock

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