When Gabriella Farrugia arrived home to spend Christmas with the rest of her family, it was the first time the 10-year-old had left hospital in three months.

After noticing a butterfly-shaped rash on her body at the beach one day, Gabriella soon grew weaker and weaker until the walk to school became a huge effort. It felt like all her muscles had given up and she was even struggling to lift her head up from the pillow.

Various GPs put the problems down to growing pains or a virus, but Gabriella’s mother, Lyn, knew there was something seriously wrong. Only when a paediatrician at the local hospital, Great Ormond Street Hospital (GOSH), did the family discover the severity of the situation.

Gabriella was admitted immediately and within minutes of arriving at GOSH on 26 October she was diagnosed with Juvenile Dermatomyositis (JDM), an extremely rare chronic autoimmune disease that affects roughly three children per million.

“I had to have someone supporting me all the time, or I was in a wheelchair,” Gabriella says. “I had a feeding tube because my swallowing was really badly affected. That was really hard because I was so uncomfortable. I lost weight, too, which was scary as I was getting thinner.”

“It was terrible,” says Lyn, who had just returned to her teaching job prior to Gabriella falling ill and has had to give it up again temporarily. “I saw Gabriella at the top of the stairs at home and she just crumpled.”

The symptoms are frightening, as Dr Muthana Al-Obaidi, a consultant paediatric rhumatologist at GOSH, explains. “As well as a rash, you can also have carcinosis on the skin, particularly in younger, severe cases. That can be complicated by skin ulcers or infections and even nerve entrapment. JDM can affect your heart, lungs, bowels, your joints. Eating and drinking can be unsafe as swallowing is affected.

“It is a lifelong disease, so what we try to do is to control the inflammation and control the disease. How long it takes to get the disease into remission depends on the type of JDM a patient has. The median time overall is four years. Most recent figures show around 20 per cent go into chronic disease, meaning no matter what you do they have problems. We know that rate has improved, although the latest figures aren’t yet published.”

Unsurprisingly, JDM patients need a small army of attendants to cater for them: a physiotherapist, occupational therapist, dietician, speech and language therapist as well as doctors – who all come together for twice-a-week reviews.

Psychologists are also on hand – for the parents as well as the children – to explain the effects of such a rare disease. Gabriella also has to wear factor 50 sun cream every day in her hospital room due to the sensitivity of her skin.

With greater knowledge of JDM, tackling the disease has improved remarkably. Although the disease can kill, if severe enough and left untreated, mortality rates have reduced over the last 25 years from 40 per cent to just 1 per cent. It can also never be eradicated, with remission the best outcome for patients.

Gabriella has joined other JDM patients that form an ongoing NHS study which will lead to developing more personalised treatments. It’s led by Lucy Wedderburn, a professor in paediatric rheumatology at UCL Institute of Child Health and a consultant at GOSH, the central hub for 17 hospitals which are co-ordinating the results. Due to the rarity of the condition, it has taken 10 years to get up to 500 patients in the study. It also demonstrates the value of the “kickstarter” funding from GOSH’s charitable arm – the study received a research starter grant from the charity because of the rarity of the condition and type of research getting funding elsewhere would have been much more difficult.

“Research on these rare conditions is happening more and more, although parents are often surprised we’re not researching them all,” Wedderburn says. “There are financial requirements... so the money from the charity is incredibly important. We could not have done this research without that funding.”

Back in the hospital room, Gabriella is looking forward to start going home at weekends. Her improvement seems remarkable and, three months after arriving at GOSH, she now simply wants to rejoin her classmates at Wheatfields Junior School in St Albans and resume singing, dancing and piano lessons. Perhaps more importantly, she wants to resume arguing with her younger brother, Joseph, who, aged eight, was also hit hard seeing his big sister so ill.

“It’s nice knowing that I can leave the hospital feeling better again, although I still have good and bad days,” Gabriella says. “It’s annoying as you don’t know if you’ll have a blip again. My motto is: stay positive, go with it and try your hardest. The more positive you think about things the easier the situation will be.”

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