Daniel was diagnosed with a rare condition called Systemic onset Juvenile Idiopathic Arthritis at Great Ormond Street Hospital for Children (GOSH) “By the time we were referred to GOSH, we had been through so much with Daniel. We arrived a broken family but as soon as we walked through the doors, we felt like we had been enveloped in the biggest GOSH hug! After treatment, our son came to life overnight. It was amazing, transformative.”
On a Sunday in February 2019, Daniel, aged 5, was playing a board games with his dad. When Daniel jumped with joy at beating him, landing awkwardly but not heavily, he bumped his knee. Daniel was a well child, full of energy and fun and loved spending time with his friends. He had kept picking up common illnesses, but his mum Rosemary put it down to picking up bugs from school.
Daniel carried on playing and didn’t create a fuss, so his parents didn’t think much of it. The following day his knee was causing Daniel more pain and it had swollen. Following several visits to the GP where Rosemary was told it just needed some ibuprofen to take down the swelling, Daniel’s pain progressed and by the middle of the week he couldn’t put weight down.
Rosemary was concerned and took him to A&E (UK emergency department). It was a worry for his parents, as Rosemary explains: “We arrived at A&E and by this point Daniel was in a lot of pain and could barely walk. It was scary how quickly this pain had come on, given how innocuous the bump had been just a few days earlier.”
Daniel had an x-ray which showed no broken bones, but some tissue damage. Although the Doctors told Rosemary was nothing to be concerned about, they referred Daniel to the orthopaedic team as something didn’t seem quite right.
“We went home, and that weekend Daniel developed a fever which wouldn’t go down. We went along to the orthopaedic appointment later that week and coupled with the fever and his knee which had swollen further, the team suspected he had septic arthritis which is an infection in the bone. I couldn’t believe it. By this point poor Daniel had a severe fever and his knee was locked in position, he could barely move. The hospital decided to keep him in to run some tests.”
Daniel spent the next week in the local hospital having blood tests day and night, and even had to undergo two operations to investigate what was wrong with his knee. During these, surgeons took a sample of the fluid on his knee and drained it.
“Daniel was really scared; he’d had to cope with so many needles with all the blood tests and surgeries. A week after the original procedure, his knee continued to swell, and his ankle and elbow were also getting puffy.
“Daniel had become really withdrawn, he was barely moving because he was in so much pain and wasn’t speaking to anyone. We couldn’t even hug Daniel to comfort him because he was in terrible pain. He was such a sad little boy and I felt like I’d lost my child. The team just weren’t able to identify what was wrong and they agreed he needed to be seen by specialists at GOSH.”
Two weeks and a day after he bumped his knee, the family suddenly found themselves at GOSH. “By the time we were referred, we had been through so much with Daniel. Within five minutes we were told he needed to stay at the hospital. This was scary because we knew only the most seriously ill of children get treated at GOSH but at the same time it was hugely reassuring because we knew he was in the best hands.”
Daniel was given treatment to relieve the inflammation that had affected his joints. Thankfully, the high dose of steroids had an almost immediate effect: “Daniel came to life overnight. It was amazing, transformative. Both physically and mentally he changed – he began talking again, interacting with us and being able to move. It was steady progress, but it was heart-warming to see our little boy come back to us. Though he was incredibly weak, and he still couldn’t carry his own body weight, his cheeky personality began shining through again.
“Daniel underwent many tests as doctors tried to rule out a number of conditions, he had MRI scans, blood tests, an echocardiogram, liver tests and bones looked at. Eventually the amazing team who had taken him under their wing were able to come up with a working diagnosis of Systemic onset Juvenile Idiopathic Arthritis, an extremely rare disease.”
Systemic onset Juvenile Idiopathic Arthritis affects around 1-10 in 30,000 children with an annual incidence of 1-20 in 900,000 children.
Juvenile Idiopathic Arthritis is caused when a child’s immune system goes into overdrive and attacks their own tissues and causes their joints to swell and stiffen. It’s more aggressive than arthritis in adults, and the pain in children’s hips and knees can stop them walking.
“This particular condition means can cause swelling and damage to Daniel’s internal organs if not treated in a timely manner. Daniel’s liver was beginning to be affected but his treatment at GOSH stopped any further deterioration.” Says mum Rosemary.
Daniel’s condition is also associated with Macrophage activation syndrome (MAS), a life-threatening complication of rheumatic disease that, for unknown reasons, occurs much more frequently in individuals with systemic juvenile idiopathic arthritis.
As Daniel’s mum explains, “This extra element for Daniel is life-threatening within hours if it’s not treated before organ damage occurs. This for us is the more frightening element of his condition as time is so critical and means that we often end up in A&E whenever he gets ill with more common illnesses rather than popping to the GP.”
Since his treatment at GOSH, Daniel has been doing really well as Rosemary explains: “Daniel hasn’t had a flare up since he was at GOSH and he is currently stable which is amazing. We are struggling to understand why Daniel has this condition and working out how it will impact him going forward, but we are so relieved to have had the care that GOSH has given him, and as a result now his mobility is almost back to normal. He has had a huge amount of rehab and will need to continue physio but it’s great to see him being the Daniel we remember before he got ill.”