My son’s juvenile dermatomyositis diagnosis journey

Sam at GOSH

In March 2013, eight-year-old Sam developed a rash and virus. After a few days it didn’t go away and Sam’s mum, Lee, knew something more serious was going on. Sam was later diagnosed with juvenile dermatomyositis (JDM) and referred to Great Ormond Street Hospital (GOSH). 

Early signs and symptoms

"Sam had been at football when he came back with really red cheeks. I assumed it was windburn because it was cold, but the colour stayed on his face for a few days and then he became ill with a particularly nasty virus.  The virus spread throughout the family and put me in bed for a week!  The doctors now say that this was probably the start of the problem, and that Sam’s immune system had reacted badly and not recovered.

"Once he was over the virus, the rash was still there and it had spread down his arms and legs. He was very down and quite weepy which was very unlike Sam. He began to complain of aches and pains all the time and we started to piece the symptoms together. We went to the doctors and at first they thought it was allergic eczema but my husband and I weren’t convinced, some of his rash looked like eczema but the other symptoms didn’t match and his skin was almost purple at times. We asked the doctors if it could be an autoimmune condition, but they thought it was too rare. In the end we went to a private Dermatologist who was able to identify it as juvenile dermatomyositis (JDM). He was then referred to a local Rheumatologist who recommended that we come to GOSH to see a specialist team."

Coming to GOSH

"We first came to GOSH in September 2013. It was really stressful trying to organise everything – the doctors wanted to admit Sam there and then, but we had a six-month-old baby at the time. After going back home to Swansea, we returned to GOSH. My husband, Christian, stayed with Sam on Penguin Ward for a week and a half and then moved to the family accommodation across the road where I then stayed with him for a further two weeks.

"The first couple of weeks were tough, it was constant phone calls from Christian about what was happening and he had to relay what the doctors were saying. Looking back I think I was numb during that period; we suspected that Sam’s JDM was not under control but we never expected him to be admitted to GOSH. It was so difficult being apart from him and trying to organise home life, work and visits to London or bringing Sam home for the weekend. I tried to think at the time ‘I need to stay strong for Sam’ and got through it by reminding myself that in no time at all it would be a part of our history – because time passes by so quickly!"

Treatment at GOSH

"As soon as he arrived they gave him intravenous (IV) steroids, which was done twice over two weeks to get the disease under control. His skin improved really quickly after that, he also had a muscle biopsy which looked at the disease. The main treatment he had at the hospital was physiotherapy – he went twice daily. Although I felt cruel, I had been pushing Sam to keep working his muscles: I made him walk to and from school even when he was at his worst. The specialist team at GOSH said this was the right thing to do. The physiotherapy programme at GOSH involved lots of different exercises, they were so good with the children. They would make them all walk up and down the stairs, no excuses.

"Sam still takes a lot of medication now – he has methotrexate injections once a week from a community nurse and an anti-sickness medication. He also takes prednisolone, lansoprazole and calcium/vitamin D supplements daily."

Progress during treatment

Sam cooking

Sam making sushi

"I think the first highlight for us was when he started taking IV steroids; his skin improved so much after that. His muscle scores (after a CMAS test) also improved so much in the time we were at GOSH. When he was admitted his CMAS was 29/53 and by the time he left GOSH it was 45/53. The physio programme was a high. The real sign of improvement for me was watching Sam walk up the hill from school and being able to keep up with his friends and not have to stop for a rest.

"The specialist knowledge was another highlight of GOSH. The team were able to really explain the disease to us and could tell us what to expect from the drugs, what each bit of treatment would improve and what to expect going forward. I also went on a pain management course which was really useful and explained why Sam had been so sensitive over previous months.

"Unfortunately Sam’s bone density has been affected by a combination of the disease and steroids and he suffered a wedge fracture of his vertebrae which impacted his physiotherapy programme for several months. However his muscle scores are still high and the bone density issue is a temporary setback which will be resolved as he reduces the steroids and keeps active."

Life now

"It was hard at first to give Sam and his younger sister Mya the same attention; we waited five years for a second child so it was heartbreaking that we were apart when she was so young but we got through it.

"Sam is much better now, obviously he’s still on a lot of medication, but we can do more as a family. It hasn’t affected our daughter too much as she is so young she’s not missing out on activities. We went on holiday before Sam was admitted to GOSH and he couldn’t do the same activities as the other children because he was too weak. He would also have to miss PE at school and stay inside when it was sunny as his condition would flare up.

"We do still have to be careful now, he wears factor 50 sun cream and long sleeves on really hot days, but he has enough energy to play sports and his back pain has improved. We need to err on the side of caution because of the bone density complications but things are improving."

Advice for parents

Sam and sister Mya

Sam and his sister Mya

"My advice to other parents with a child with JDM is to push for answers. Don’t be afraid to ask questions, and if you do research you will be able to get better answers for informed questions.

"Similarly, make sure your child has access to a physiotherapist and push your child to keep active. Some children with JDM can end up in a wheelchair because their muscles are so weak, it’s essential to keep them moving. It affects people in different ways, so a chair may be necessary but take all the steps to avoid that.

"Don’t be afraid to ask for things at GOSH, the staff are all very helpful. I would say to plan your day around the pharmacy – you don’t need to wait in there, they do tell you it will be a while but go away and then come back for your prescription.

The future

"Sam has been so brave. He still went to school despite having the rash all across his face, luckily it’s a small school and he didn’t get teased.

"As the condition is so rare (it affects only three in one million children) there aren’t statistics on recovery or remission rates, but the doctors seem confident with his progress. I hope he goes into remission in the next 12 months and then it never comes back, but we just don’t know. We don’t come to GOSH much anymore, every three to four months as his care is now shared with local consultants in Wales."