Girl broke her nose eight times due to condition no-one knew about

A mum knew her daughter was different despite doctors saying otherwise. 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. Speaking to the ECHO, Jayne, 58, who is originally from New Brighton but now lives in North Wales, said: “She was tiny. We'd never seen such a tiny baby. She came out of the hospital really quickly.

“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.

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“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, 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 effects of the illness were severe. Jayne said: “She had a brain tumour so she had to have brain surgery and ended up getting cancer of the thyroid.

“She had to be tube fed for the last year of life which she hated. She was losing the ability to swallow and coughing and choking a lot. She just became really really weak."

Amy was five when Jayne discovered Cockayne syndrome after seeing a picture of a child that had the syndrome.

The mum, who showed the picture to her husband Mark, said: “I found it on the internet when she was five and showed it to him. He said, 'when did you take that picture of our Amy?' I told him it wasn’t her. They looked very similar.”

Amy continued to struggle with the illness and Jayne said she started to develop a tremor and drag her left leg. Jayne added: "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, including working closely with her mum to raise awareness about her condition after she set up the Amy and Friends charity in 2007. 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.

Amy met Nick Jaminet, who had the same condition as her and they had a wedding blessing in 2010 at a wedding-style ceremony. Jayne said: “He was beaming. She absolutely loved him.

"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.”

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Jayne said any parents whose children might have Cockayne syndrome or other rare illnesses can come to the Amy and Friends charity for help, and adds that additional volunteers are welcome. She said: “We went to so many genetic departments across the country. I stuck to my guns and said, I'm not giving up. I wanted to say, once she died, I couldn't have done any more.

“People come to us because we deal with so many rare conditions. The geneticists we work with can put us in touch with people. There’s more kids out there.

The charity single, called War Child, has been produced by TT23 Studios and Jayne feels the lyrics, which speaks about children facing battles they can’t win, resonate strongly with the charity’s aims.

To honour Amy’s memory, the final version of the song ends with words of hope and resilience, spoken by Amy: “Keep smiling everybody”.

Jayne feels his daughter’s legacy lives on through the charity’s work. She said: “Amy’s helped so many families around the world. She was a gift to anyone she met.” Meanwhile, Jayne’s three other children, Jonathan, Ben and Laura, all work in medicine to help other people.

The annual conference for the charity, bringing together those affected by rare conditions and specialists, will take place next month in Blackpool. You can find out more about the charity here.