WHEN Geri Fitzsimons’ young nephew Samuel Evans was diagnosed with a rare life-threatening condition, his entire family was devastated.

But the Carterton woman and her relatives quickly decided to focus their energy by fighting back – raising both awareness of the disease and money to support research to find a cure.

Eight-year-old Samuel was just a baby when he was found to have Niemann Pick Type C, but only in recent years has he begun to show symptoms of the incurable genetic disease, caused by an accumulation of cholesterol and fats in the liver, brain and spleen.

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Ms Fitzsimons, 45, said: “The condition is starting to affect Sam’s balance and speech, and it will get progressively worse, causing seizures and dementia.

“He laughs and has great fun, but he gets so frustrated when he can’t do what his siblings can.”

Sam, who lives in Leeds with mum Miriam, dad William, and twin siblings Eli and Jack, five, is on a new drugs trial.

Ms Fitzsimons said: “We won’t be able to get him back to where he should be, but we want to stop it progressing.

“Miriam tries to make everything they do fun for him. The bottom line is there is no cure at the moment and he will die unless they find a cure.”

It was after a conversation between Ms Fitzsimons and her sister in spring 2014 that her fundraising campaign began.

She said: “It was at a family wedding in Poland, of all places, after a few vodkas.

“We had our first constructive chat and she said ‘I don’t care what you do, how you do it, but we need to raise awareness and get people involved’.”

So far this year Ms Fitzsimons’ efforts have raised more than £4,000, of which she hopes up to £3,500 will be match-funded by the bank Santander.

Her close friend Alison Hawkins is the branch manager in Abingdon and has been helping with the fundraising efforts.

Cash has rolled in from a dance-a-thon led by Ms Fitzsimons’ dad Hugh, street collections with the help of Darcy Bear, a raffle, a 5km run, a festive fayre and an anonymous £1,000 donation.

Mother-of-one Ms Fitzsimons said: “It also shows you how wonderful people are and how blessed you are to have these people around you.”

For her the fundraising is all about Sam, but the bigger picture was to help find a cure for the condition.

Mrs Evans now works for the charity Niemann-Pick UK helping to raise awareness of the condition.

To donate, see justgiving.com/fit4sam/ and to find out more about the charity go to niemann-pick.org.uk.