Jayne Hughes’ work has been recognised with an ‘incredible’ honour
Jayne Hughes and her daughter Amy, who died on New Year’s Day 2020(Image: Family handout)
A mum, who saw her daughter die of a rare condition, has been named in the New Year Honours List. Jayne Hughes’ daughter, Amy, was born prematurely at 28 weeks in 1991.
As she was growing up, doctors gave this as a reason why Amy was different from other children but Jayne was sceptical. She described her daughter as a “tiny baby” who struggled to put on weight.
Speaking to the ECHO earlier this year, Jayne, who is from New Brighton and now lives in North Wales, said: “She was strong but didn’t put on weight and she didn’t grow. We kept taking her back to the GP. They said it was because she was premature and that she would catch up.
“By the time Amy was one, she had a pixy-looking face and pointy chin. Her facial shape was different to other children. Again, people were saying this was because she was premature.
“But it was part of her illness that made her look like a fairy. She met all her milestones, she could talk and run really fast but that tailed off as time went on.”
When she was 14, it was discovered Amy had a crossover of two DNA repair disorders which have no cure. One was Cockayne syndrome, a rare disorder characterised by an abnormally small head size, and a failure to gain weight and grow at the expected rate.
The signs and symptoms of the condition are usually apparent from infancy, and they worsen over time. The other was XRCC4, a variation on a gene which causes a genetic disorder.
The illness massively affected Amy’s life. Jayne said: “She then lost her ability to put her hands out and she broke her nose eight times from falling over.” However, Jayne is keen to stress Amy still had an amazing life and made so many memories.
The average life expectancy of someone with Cockayne syndrome is normally eight years and four months but Amy lived until she was 28. She died on New Year’s Day in 2020.
Jayne said: “Amy did things most people who are really sick wouldn’t get to do. We used to say to her, tomorrow we’ll take you out to the cinema, or for a coffee. She knew she always had something to do. She had a wicked sense of humour.
“Some children with the condition only live until age one, some until the age of five. In that respect, she was really lucky. All she used to say was, I want to help my friends who are going to heaven. I wouldn’t swap Amy for anyone. She was an absolute joy and privilege.”
Amy also worked closely with her mum to raise awareness about her condition after she set up the Amy and Friends charity in 2007, which is based in Oxton. Over the course of 17 years, Jayne and a small team have supported – both directly and indirectly – more than 7,000 people affected by DNA repair disorders, which are conditions with no cure and for which research or information is limited. Jayne has continued Amy’s legacy through the work of the charity.
Jayne established Amy & Friends in 2007, following many years of searching for a diagnosis for Amy. (Image: Ray Farley)
This has included supporting children and their families in gaining diagnosis, providing information for medical papers, aiding research programmes, offering respite and 24/7 online support, organising transport and accommodation, and accompanying 10 families twice monthly to a specialist clinic in London, as well as delivering regular outreach events. The charity also holds an annual well-being conference for families and worldwide specialists, which was this year attended by more than 300 people.
Now, on the fifth anniversary of her daughter’s death, Jayne has been awarded the British Empire Medal (BEM) for services to children with DNA repair disorders in the King’s New Year Honours List 2025. On receiving the honour, Jayne said in a statement: “At the time I learned I was to be recognised in the King’s New Year Honours List, I was struggling with Amy’s upcoming fifth ‘angelversary’ – a term we use about the children we have lost.
“When I realised the date of the announcement and the enormous significance this will have for the charity’s ongoing work, I felt like Amy was there with me at that moment, like she’d had a hand in this. I accept this incredible honour but recognise it as a collective effort.
“Amy wanted to build something to help her friends, and I continue it as her legacy. I don’t do it alone, I have the support of a small but incredible team, scientists and medical professionals and of course, our amazing families who remain at the heart of everything we do.
“I hope that this incredible recognition for Amy & Friends’ work will raise awareness of the challenges that children with rare DNA repair disorders and their families face and help drive positive change through support to ensure a better quality of life and care and more research for the future.”
The award is the third that Jayne has received in recent months, having also been named winner in the “Women of Courage” category at the Merseyside Women of the Year Awards 2024 and “Carer of the Year” at the BBC Radio Merseyside Making a Difference Awards 2024. You can find out more about the charity here.