Living with a rare disease

Amelie has juvenile idiopathic arthritis (JIA), a rare disease that affects an estimated 12,000 children in the UK. It saps their energy and causes their joints to swell and stiffen. It’s much more aggressive than arthritis in adults, and within weeks, pain in children’s hips and knees can stop them walking.

“Did you know that last year a paralysed man had a robot hand surgically wired to his brain, which allowed him to feel when it was being touched? Science is amazing isn’t it?”

Amelie, a discovery enthusiast and GOSH patient

Amelie's mum, Caroline explained a little more about her daughter's condition: "It's meant that her whole life has been marred by chronic and often crippling pain that affects her whole body."

There is treatment available for children with JIA, but it means frequent trips to hospital, unpleasant side effects like nausea, and missing out on weeks or even years of school and the freedom to explore the world around them. Thanks to research, more and more children are on track for recovery, but there are others who do not respond to current treatments at all.

Amelie was one of those children, but Great Ormond Street Hospital (GOSH) secured funding to try a new biological treatment called tocilizumab. 

"She has managed to stay in mainstream education," says Caroline. "She even secured a coveted place in her 11 plus exams, despite immense ill health a mere week before sitting them."

Research continues at GOSH, where more patients with JIA are seen than anywhere else worldwide. Researchers supported by GOSH Charity are on the brink of finding new, kinder treatments for the disease to give more children back their childhood.

Research has had a major impact for Amelie, so it's no surprise she's excited by the discoveries made by science. 

“Did you know that last year a paralysed man had a robot hand surgically wired to his brain?" she asks. "It allowed him to feel when it was being touched. Science is amazing
isn’t it?”

Contact the Discovery Appeal team