Rare disease doesn't sideline active youngster

Spring 2019

Clark’s favourite game is hockey and right now the four-year-old is taking instructions in everything from skating backwards to stops and turns. Like most kindergarteners he loves to be active. However, unlike most youngsters, he is living with an autoimmune disease many of us more typically associate with older adults.

“Just over a year ago we first noticed that Clark was not well. He was always very active with swimming and hockey, and overnight he couldn’t do anything. We thought it was the flu,” says Ali Burton, Clark’s mom.

His illness persisted and the Burtons took Clark to their paediatrician. A series of blood tests over several weeks ruled out a number of diseases, including the flu, but could not pinpoint what might be the cause of his symptoms, so he was referred to a specialist at London Health Science Centre’s Children’s Hospital.

“While we were waiting for our appointment date, Clark continued to become more ill. He was not eating or drinking much most days, and he was not walking,” says Burton.

“Our child was dying before our eyes and so we took Clark to the LHSC’s Children’s Hospital emergency department.”

From there things began to happen very quickly. Six weeks of documentation of Clark’s symptoms, temperature, daily activity and behavior along with testing in the Emergency Department (ED) revealed that Clark may have either leukemia or juvenile arthritis.

Clark was admitted for four nights for multiple rounds of testing. He returned a day later for a bone marrow biopsy which came back negative for leukemia. Joint pain in his feet, knees, hands and wrists pointed to arthritis.

“Juvenile arthritis is diagnosed by exclusion, so tests are done and, based on the results, cancer, infections and other diseases are ruled out,” says Dr. Roberta Berard, paediatric rheumatologist at LHSC’s Children’s Hospital and Clark’s physician.

Clark has a less common form of juvenile arthritis called Systemic Juvenile Idiopathic Arthritis that presents differently than the other subtypes of juvenile arthritis.

“Children with juvenile arthritis usually present with joint stiffness and swelling and a change in their physical functioning, not being able to participate as fully as they normally would,” says Dr. Berard.

“A child with systemic juvenile idiopathic arthritis will present with unexplained fevers which last at least two weeks or more, along with a rash and an overall feeling of being unwell. Often they are losing weight because they are not eating. There will be joint swelling along with joint pain, extreme fatigue, and some children may also have chest pain or pain while they are breathing. The children are often quite sick and I usually first encounter them as a hospitalized patient.”

Patients are treated with medicines and also ideally by several members of a multidisciplinary care team of social work, physiotherapy, psychology, nursing, ophthalmology and child life specialists.

“The medications need to be tailored for each child’s presentation and for systemic juvenile arthritis we have biologic therapies which are really effective. They are a class of medications that are engineered to look like and target the dysregulated chemicals in the body in systemic arthritis,” says Dr. Berard.

“With systemic juvenile idiopathic arthritis the goal is to get our young patients into remission and then begin to withdraw the medication and hope for long-term sustained remission off medications.”

The treatments, which are in the form of a biweekly infusion for Clark along with two daily doses of Naproxen (a non-steroidal anti-inflammatory drug) are effective. After infusion Clark feels fine and then its effect slowly tapers off until the next infusion.

“When Clark’s symptoms are flaring, walking becomes a challenge. He doesn’t want to move when he is in pain and swollen in the areas that are inflamed, such as his feet, knees, hands and wrists. He will also have rashes on his body which come and go with fever,” says Burton.

A year since his diagnosis, Clark now has weeks between treatments when he is pain free and back to playing sports and being an active youngster.

But the infusions themselves have been a challenge for Clark.

“I have a lot of bravery beads. One looks like a tooth. Some spell my name. I have a lot of white ones, they are for needles. The brown beads are for infusion. My favorite is the pink one, it is for my tests,” says Clark.

The needles are very difficult for Clark, says his mom.

“Erika Clements, Child Life Specialist at the Paediatric Medical Day Unit, has helped Clark with his fear of needles and to overcome this at almost every single infusion and appointment. She talks to him, offers him different coping techniques and plays with him. She means a lot to Clark and us,” says Burton.

“All around the care has been really great. Dr. Berard has been there for everything. If I have concerns, she gets back to me right away.”

What advice would Burton give parents whose child has just been diagnosed with this rare disease?

“I would say to them to stay strong. It can be really hard dealing with everything. Stay strong as a family for your child. Be there for your child emotionally, physically and spiritually,” says Burton.

“Try to find a community of families who are struggling with a similar illness. Of course family and friends care, but they don’t know exactly what you are going through. The key for us is to be connected with other families who are in a similar situation.”

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