The mother of a North Wales woman who died of a rare genetic ageing condition said the charity that carries her daughter’s name will continue to help people around the world.
Jayne Hughes was speaking after the first in-person ‘Amy and Friends Conference’ took place since the death of her 28-year-old daughter on January 1st, 2020.
St David’s Park, in Deeside, hosted families from around the UK for the annual conference in August, which was also streamed to families around the world who couldn’t travel because of the Covid restrictions.
Amy’s family set up the charity Amy and Friends in 2007 to support those affected with Cockayne Syndrome (CS), which Amy had, and another rare condition called Trichothiodystrophy (TTD).
Both disorders are characterised by symptoms including growth failure, premature ageing and impaired development of the nervous system.
The charity is planning to support children with another rare genetic condition called Bloom’s syndrome, where patients typically have a short stature, a skin rash that develops after exposure to the sun and a greatly increased risk of cancer.
The Steve Morgan Foundation is a long-term supporter of the charity and Jayne Hughes said the daughter’s memory would live on through its work.
She said: “It takes a year to organise the conference and fund it. Last year we had to do it virtually because of Covid but this year we attracted families from around the UK.
“On the day of the conference I thought ‘how can I go without Amy?’ but when I got there I couldn’t wait to meet everyone and everyone was so full of life. We’re like a big family.”
During the pandemic the charity received two grants totalling £20,680 from the Steve Morgan Foundation Covid-19 Emergency Fund, which enabled them to send out 26,000 activity parcels to children and the families who were unable to meet up face-to-face.
Jayne, who lives in Denbighshire but is originally from Wirral, said: “We support thousands of families all over the world. The kids we support look different to the general population so they don’t see anyone who looks like them. When they see someone who looks like then they’re overjoyed.”
Explaining how the charity first came about Jayne said it followed her experiences of having Amy in 1991.
“Amy was my first child and I became aware something wasn’t right after about 12 months,” she recalled. “She wasn’t growing like other children or putting on weight. It was blatantly obvious there was something wrong with her but we didn’t know what it was.
“I did some research and became aware of Cockayne Syndrome when Amy was five but it was only when we went to America when she was 14 that she was diagnosed.”
It was while she was in America that she met Nick Jaminet, who had the same condition as her and they had a wedding blessing in 2010 at a wedding-style ceremony.
The average life expectancy of someone with Cockayne Syndrome is normally eight years and four months but Amy lived until she was 28.
“Amy was at the mild end of the spectrum,” said her mum. “At the start she could walk, talk and ride a bike. Then she started to lose her balance and her condition deteriorated.
“Amy was such a larger than life personality. Even when she couldn’t speak people were drawn to her. She was so funny.”
The Steve Morgan Foundation has given the charity five grants over the years to support their life-changing work.
As well as the annual conference, Amy and Friends funds a monthly rare disease clinic at Guy’s and St Thomas’ NHS Foundation Trust and accompanies families down to London, paying for the accommodation.
The charity also runs clubs for children with life limiting/life affecting illnesses in Flintshire, Denbighshire and Wirral.
In 2012, Amy won the Against All Odds Award at the Steve Morgan Foundation’s Entrepreneur Awards.
“The Steve Morgan Foundation really helped get our story out there,” said Jayne. “They’ve also funded siblings clubs locally.
“In the first year that we launched the charity we were helping seven children in the UK with CS but how the figure is 1,000 as we also continue to support each family member once they are bereaved.
“There was never any question of us stopping when Amy died and the latest conference underlined the difference that the charity makes.”
