Eventually Francis lost his vision, hearing, speech and mobility and his mum is now raising awareness of the condition
A family from Blackpool are trying to raise money for the funeral of their son and raise awareness of the rare genetic condition that he died of.
Nine-year-old Francis Eaton sadly passed away after a three year battle with adrenoleukodystrophy – a genetic condition that damages the membrane that covers nerve cells in the brain and spinal cord.
Symptoms can include loss of vision and hearing, difficulty swallowing, muscle weakness and seizures among many others.
Frankie was diagnosed in 2019 after falling ill with a temperature in school. Later on he was taken to Blackpool Victoria Hospital and at first doctors thought it could possibly be sepsis or meningitis.
He was referred for a CT scan Alder Hey hospital which revealed the impact the condition had had on his brain and eventually Frankie lost his hearing and his vision.
Frankie’s mum, 30-year-old Demi Macfie, originally from Liverpool, also has the same condition and has one other child, Lilly who is 7 years old who could potentially have it also.
Adrenoleukodystrophy affects men and women differently however which is what Demi wants to raise awareness of, as well as when this can be tested for.
She told LancsLive: “Adrenoleukodystrophy is a recessive condition caused by a mutation in the ‘X’ chromosome. I’m a carrier of the condition and I’ve inherited the faulty gene.
“Because a female has two ‘X’ chromosomes she still has another ‘X’ to deal with the mutation.
“Because males only have one ‘X’ chromosome, it affects boys differently.
“I’m going to get Lilly tested for it however it mainly will affect her when she’s older in terms of her being a carrier and when she has children.
“Since Frankie was diagnosed the doctors gave him around two years to live and every day his condition got worse and worse. He couldn’t walk, he couldn’t talk, in the end all he could do is breathe for himself.
“I read that in America they can now detect adrenoleukodystrophy during the ‘heel prick’ test as a new born.
“I feel like if Frankie had’ve been tested as a baby he would still be with us.”
The NHS website states: “Newborn blood spot screening involves taking a blood sample to find out if your baby has 1 of 9 rare but serious health conditions.”
The condition is screened for in 20 states in the USA. In the UK screening was reviewed by the Neonatal Screening Committee in 2017 and 2021 and they concluded there is not enough evidence for adding it to the screening panel as of yet.
Demi added: “I would like to raise awareness of this but also about his symptoms as they weren’t quite obvious at first.
“Before we knew of his condition he would be doing his homework and he would do things like writing a number ‘ 9’ backwards. I’d tell him when he’d got it wrong and he’d get really upset.
“He also began to have mood swings but I wasn’t sure if that was to do with changes in hormones at first, however this is a symptom of adrenoleukodystrophy. When he was younger we thought he may have been autistic but he was tested and it came back he wasn’t.
“We can now see that some of when he was experiencing was because of his condition. Although they say it is a rare condition affecting 1 in 20,000 males, I’ve met at least two other people from Liverpool who have had it so it’s important to be aware of what this condition is.”
Demi’s cousin’s friend Robyn Threadgold has now set up a Go Fund Me page to help with the cost of the funeral which takes place on November 10.
His friends and family also came together to get him a holiday to Benidorm for this seventh birthday.
They did get their wish granted from the Make a Wish foundation to go to Disney in America but they couldn’t go because the disease progression was too advanced by then, even though the foundation tried to bring it forward.
The family now wish to give him the best send off possible.
Demi added: “Frankie was just such a little character. In Alder Hey the nurses would come out of their way to come and chat to him. He just had that effect on people.
“He was car mad and a little Lightning McQueen. He loved fast cars and aeroplanes. He also loved dinosaurs and would shout at me if I got the names wrong.
“He loved LFC and he’s going to be buried in his Liverpool kit and we’ve got him an LFC coffin.
“He was such a little fighter but this is just such a horrible condition.”
To donate to Robyn’s Go Fund Me, please visit the fundraising page here.
Alder Hey will not comment on individual cases, LancsLive has approached Blackpool Victoria Hospital for comment.