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Fighting Rare Diseases

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Never Give Up

Emmy, Mum and sister sat in their garden in the sun

Two-year old Emmy has Vici syndrome, one of the most severe multi-system conditions that can affect children.

Sadly, there is currently no cure or effective treatment for this devastating rare disease – and most affected children do not live beyond the age of five.

We were blown away by such a catastrophic diagnosis

Evan and Mum sat on a sofa playing with a T-Rex toy

Evan’s story

Evan was diagnosed with a rare brain cancer called medulloblastoma when he was 15 months old. Luckily, he now has the all-clear but is living with complex complications as a result of the tumour and treatment effects.

Paddy and his sister hugging on a sofa

Paddy’s story

Paddy has KCNT1-related epilepsy, a very rare and severe condition that causes seizures. There is no cure and children are often left severely disabled. But most heartbreakingly of all, their lives are often cut tragically short.

Danny sat in a garden smiling at the camera

Danny’s story

Danny has Hunter syndrome, a rare disease with no cure and limited treatment options. His family are painfully aware that time with their youngest son will be cruelly cut short by this rare disease.

Sophia hugged by her Mum and Dad with them both kissing her on opposite cheeks

Sophia's story

Sophia has spinal muscular atrophy type 1, a rare disease that causes progressive muscle weakness and movement problems. A new treatment has stopped the progression of this cruel disease for now, but Sophia's future remains uncertain.

Researcher in the lab looking into a microscope

Research into rare diseases in children

We are funding some amazing research projects across the UK. Research that could lead to new treatments, cures and medical breakthrough for children fighting a rare disease.