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Fighting Rare Diseases

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Never Give Up

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

Six-year-old Evan was diagnosed with a rare brain cancer called medulloblastoma when he was 15 months old.

This can be difficult to treat and the tumours are often aggressive and spread to surrounding tissue and can be highly resistant to chemotherapy and radiotherapy. He received treatment but later relapsed.

Luckily, he now has the all-clear but is living with complex complications as a result of the tumour and treatment effects.

When Evan became unwell, life changed forever

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’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'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.

Finley’s story

Finley has Diamond-Blackfan anaemia, a very rare condition with no cure. In his first four years of life, he has endured more than 100 blood transfusions, countless tests and two major operations.

Researcher in the lab

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.