Charity status helps others with rare gene disease

A mother who set up a charity for children with the same rare genetic disorder as her daughter has said charity status helps them say "these kids matter".

Sarah Hutchings' four-year-old daughter, Sienna, is one of just 13 people in the UK - and about 160 worldwide - diagnosed with CHAMP1, a neurodevelopmental disorder with a range of symptoms.

Mrs Hutchings and her husband Scott set up CHAMP1 UK to help families with a diagnosis access research, funding, and support.

Mrs Hutchings, who lives in Wimborne, Dorset, told the BBC that having official charity status "means that we have more power to say 'look, we're here'" and offer help to others.

Mrs Hutchings first realised something was wrong at her 12-week scan, but it was another three years before Sienna was diagnosed with CHAMP1.

"It was really scary, I really struggled with it," said Mrs Hutchings.

"I found it very difficult to cope with, because it was just so rare. Where do we go? Who do we talk to? What do we do?"

The symptoms of CHAMP1 vary, but for Sienna, it affects her mobility, balance and also causes gastrointestinal problems such as constipation.

She is verbal, but her speech is "not easily understood sometimes", her mother said.

"She gets very frustrated that she knows what she wants to say, it's all in her head, she just can't get it out," Mrs Hutchings said.

There are European charities for CHAMP1, and one in America, but Mrs Hutchings wanted to create a UK one to "access funding and research".

"There's a research centre in Scotland that wants to research CHAMP1, so we wanted to be able to directly link with them," she said.

Her organisation was given official charity status in December.

Mrs Hutchings said that, in the last year, two more people in the UK had been diagnosed with CHAMP1.

"We've been able to reach out to them and say 'we're here, we can meet you, we can have a chat with you'," she said.

"To have that official charity status just kind of gave us the power to be able to say... 'we exist, we matter, these kids matter', and just gives us that boost to fight for that research that's so important to us."

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