Mum's disbelief at what doctors said about premature daughter's 'fairy' appearance

Amy Hughes was born prematurely and doctors said that's the reason she was different. Her mum, Jayne, was always sceptical and felt she was different from other children

A mother's instincts proved right despite doctors dismissing her concerns. Jayne Hughes noticed her daughter Amy was not like other children after her premature birth in hospital at 28 weeks in 1991.

Jayne, a 58-year-old, originally from New Brighton, now lives in North Wales, recalled: "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.

"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."

The Liverpool Echo reports that it was not until Amy turned 14 that a devastating revelation shed light on her condition she had a combination of two DNA repair disorders without a cure, including Cockayne syndrome which involves abnormal head size, stunted growth, and symptoms that worsen with age, plus a variation in the XRCC4 gene leading to a genetic disorder.

The devastating effects of a rare condition left Jayne's daughter fighting for her life. She recounted, "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 years old when Jayne stumbled upon Cockayne syndrome online after noticing a picture of another child with the condition. "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's health continued to decline as the illness took its toll, described by Jayne: "She then lost her ability to put her hands out and she broke her nose eight times from falling over."

Yet despite the struggles, Jayne speaks with pride about Amy's meaningful and joyful life, including how they worked together to raise awareness through the charity 'Amy and Friends' established in 2007. Surpassing expectations, Amy lived to the age of 28, when she sadly passed away on New Year's Day in 2020.

Love shone brightly in Amy's life when she met Nick Jaminet, who shared her condition. The pair had a wedding blessing in a ceremony reminiscent of a marriage in 2010.

Jayne fondly reflected: "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."

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 believes the powerful lyrics, speaking about children facing battles they cannot win, align deeply with what the charity stands for.

As a tribute to Amy and to usher in a message of hope and resilience, the final line of the song includes Amy's own uplifting words: "Keep smiling everybody".

Jayne is certain that her daughter's legacy continues to thrive through the charity's invaluable work. She remarked: "Amy's helped so many families around the world. She was a gift to anyone she met."

Additionally, Jayne's other three children, Jonathan, Ben and Laura, are all embedded in the medical field, dedicating their lives to assisting others.

The yearly gathering for the charity is set to connect individuals living with rare diseases and experts next month in Blackpool. Further details about the charity can be discovered here.