Eight-year-old Cheshire girl first in world to trial treatment that could stop her going blind
Amelia Carroll has Battens disease - which affects mobility, speech and sight
Last updated 14th Jan 2022
An eight-year-old girl from Cheshire has become the first in the world to trial a new treatment that could stop children with a rare genetic disorder going blind.
In July 2021 Amelia Carroll (8) from Poynton, Cheshire became the first child in the world to receive an enzyme treatment directly into the eye in the hope of treating a symptom of Battens disease - an illness that affects her mobility, speech and sight.
She is one of seven children in the UK taking part in the trial at Great Ormond Street Hospital (GOSH).
Amelia's brother has already gone blind with the disease
Lucy and Mike Carroll from Poynton, Cheshire, have five children, two of which, Ollie (10) and Amelia (8) have the rare genetic neurodegenerative CNL2 type Batten Disease.
Having heartbreakingly watched their son Ollie, go blind with this disease they knew that they could not sit back and watch the same happen to their daughter Amelia.
In August 2020 Lucy and Mike Carroll went directly to professionals at Great Ormond Street Hospital to ask if a trial could be started in the hope of saving their daughters eye sight and that of others.
Professionals at Great Ormond Street were very supportive and keen to help however to get the program up and running the hospital estimated it would need a total of £250,000.
"We had to make a decision to either accept what was happening or to fight with everything we have"
Lucy and Mike Carroll said: “Hearing the words that your child has a life limiting condition is every parent’s nightmare, to then find out that is will happen to not just one but two of your beautiful children is utterly devastating.
"We had to make a decision to either accept what was happening or to fight with everything we have.
"We cannot begin to put into words how incredible our team is at Great Ormond Street Hospital, from day one they have been stood right there beside us fighting for our children."
Campaign launched to raise £250,000
After hearing starting the program would cost £250,000, Lucy and Mike immediately launched a campaign with their supporters ‘Ollie’s Army Battling Against Battens’ , hopeful that if they could get this program running then potentially not only would they be able to save their daughters eye sight but also the eye sight of other children who were also battling from this devastating disease.
Principle fundraisers included Carl Thomas from The Carl Thomas Project, who ran a marathon distance whilst pulling an airplane (and setting a new world record), and a group of Mikes tradesmen friends teamed together to provide an online raffle of high quality home improvement prizes - backed by a long list of famous faces including Manchester City footballer Kyle Walker, comedian Jason Manford and Coronation Street stars SamiaLongchambon, Tina O'Brien and Catherine Tyldesley.
In October 2020, other families with children that would need this treatment joined in fundraising under the umbrella of The Batten Disease Family Association.
By June 2021 the money needed for the programme had been raised.
In July 2021 Amelia Carroll, age 8 became the first patient in the world to receive this treatment.
"We are so thankful that Amelia has been given this chance. Our only wish is that it could have come sooner for our precious little boy"
Amelia's parents said: "Getting this program set up has been extremely challenging and would not have been possible without the compassion and dedication from clinicians Paul Gissen, Rob Henderson and their team.
"The support from our family, friends and Ollie’s Army has been incredible. As soon as people heard what we were up against they jumped on board, fundraising and generally supporting us as we raced against time.
"The past twelve months has been extremely difficult. Some of the conversations with the hospital have been very hard, and fundraising during a global pandemic has proven very challenging. Sadly we have had to watch Amelia’s eyesight deteriorate whilst we raced against time to raise the funds needed to set up this program."
Lucy and Mike Carroll added: "Amelia being the first child in the world to receive this treatment was nerve racking although we had worked so hard to get to this point, it was still a huge decision to hand over our precious little girl not knowing how the procedure would go.
"Thankfully it went perfectly, Amelia was so brave and was back on the ward playing with her ‘babies’ unaware that she had not only made history but that she had also created so much hope for so many families across the globe.
"We are so thankful that Amelia has been given this chance. Our only wish is that it could have come sooner for our precious little boy.”
The treatment Amelia used, which is being given on a compassionate use basis, hopes to prevent eyesight deterioration in children with CLN2 Batten disease by providing the enzyme that the nerves in the back of the eye need to function.
If the trial is successful, the clinicians hope that the body of evidence built up over the period of treatment would allow the drug to be available to more children with CLN2 and could be given early enough to save their sight.
Dr Paul Gissen, honorary Consultant in Paediatric Metabolic Diseases at GOSH said: “Treatments given under compassionate use are always subject to very rigorous assessment and at GOSH we have a long history of pioneering these carefully-considered treatments for children who have no other option.
"If successful, we hope our work on this programme can pave the way to saving the sight of more children with this disease to preserve their quality of life for as long as possible.”
What is CLN2 disease?
CLN2 disease is caused by a change in a gene that is responsible for making specific enzyme in the nervous system. This enzyme works to recycle waste materials, and without it, there is a build-up of this waste.
This condition affects 30-50 children in the UK and first causes seizures, then gradual decline in their ability to walk, speak and see, as well as progressive dementia.
The life expectancy for a child with this disease without treatment is 10-12 years old.
The drug, called Brineura, was first approved for use on the NHS in 2019 under a managed access agreement and is administered directly into the brain by a regular infusion. It has been shown to restore enzyme activity and slow the onset of disability.
This same enzyme replacement therapy is now being used in this compassionate use programme to help prevent neurological deterioration in children with Battens disease.
However, though effective in preventing movement and speech loss, this brain infusion does not prevent children losing their sight.
This is because the enzyme cannot cross the blood-retinal barrier meaning that the nerves in the eye cannot function and patients lose vision.
In this programme clinicians are using the tiny amount of the drug leftover from the brain infusion and injecting it directly into the back of the eye.
'This treatment could help preserve children's eyesight for longer, transforming their quality of life'
In a statement, Great Ormond Street Children’s Hospital said: 'This eye injection is a quick and common procedure, and the treatment is being given to a small number of patients who have been rigorously chosen by the clinical teams.
'It has been proven safe in animal models, and clinicians are carefully monitoring the eight patients who are receiving the treatment for any side effects. At this early stage, clinicians are treating just one eye every two months, and after a year they will compare the difference in vision between the two eyes.
'With no effective treatment option for blindness in CLN2 disease, this treatment could help preserve children's eyesight for longer, transforming their quality of life. It is hoped that this pioneering programme will help the tens of children globally who have CLN2.'
Dr Paul Gissen said: “The enzyme replacement therapy given into the brain has completely changed the lives of children with CLN2 type Batten disease for the better, but it has been difficult to watch their sight deteriorate even as their other physical symptoms are more controlled.
"The multi-disciplinary team at GOSH has been working hard to find a way to try to treat this and it’s only been possible thanks to the fundraising and tireless work of the patients’ families."
Other feel-good stories:
What's new pussy cat?
A kitten was rescued in Leeds after being discovered in a car engine. The little cat was found in the engine of the owner's car, after the driver had heard strange noises coming from the front during their journey from South Wales. After trying to lure the kitten out themselves, the RSPCA was called out to fish the animal out. The little cat - now named Tom Jones - was all well with no major injuries and recovered in the RSPCA's branch in Halifax.
Stanley's Steps
A schoolboy with a degenerative condition has raised nearly £5,000 for charity by challenging himself to walk 10 miles over five days. Eight-year-old Stanley Barnes had initially aimed to raise only £1,000 to fund research into San Filippo Syndrome, a rare condition that can be likened to childhood Alzheimer's. By the end of the 'Stanley's Steps' campaign, the schoolboy raised just short of £5,000 for Children In Need, and smashed his fundraising target in just a couple of days.
Speedo Mick
At the end of December 2021, a man who had travelled around the UK in nothing but a pair of speedos for charity finished his tour in his native Liverpool. Known as "Speedo Mick", Michael Cullen's trip took him on a 2,500 mile journey around the UK and Ireland, raising £130,000 during the course of his walk. SpeedoMick donated all the money raised, alongside another £193,000 for charities supporting mental health and disadvantaged young people.
The Jackie Weaver saga
In February 2021, a meeting of Handforth Parish Council in Cheshire went viral after a mediator - Jackie Weaver - removed one of the councillors from the Zoom. The clip was seen millions of times and catapulted both Weaver and the council into the public eye. At the end of the meeting, Jackie Weaver asked if people could refer to her as Britney Spears.
He's behind you!
A new university degree has been launched - in pantomime! Offered by Staffordshire University, the syllabus provides students with a lot more than the typical panto features. The one-year-program looks at the iconic British institution and prepares those taking the MA to become a director of panto or even a dame themselves. It is the first degree of its kind - and yes, it is!
One of the world's rarest animals in London Zoo
One of the rarest animals in the world has given birth in the comfort of London Zoo. Only an estimated 300 Sumatran tigers remain in the wild, leaving the species critically endangered. However, staff received a welcome festive treat when a cub was born at the zoo to ring in 2022. The birth will provide a boost and hope for the animal's future, experts said.
A lifechanging GoFundMe
A man has been able to receive over £5,000 in donations through the power of social media. Over Christmas, Harry Beardsley posted on Twitter asking for work for the man, named John. The 28-year-old had bonded with Beardsley which had led to the post on social media. Within a day, the post had gone viral and provided John with clean clothes, food and shelter until well into the New Year. A GoFundMe has also been set up to give John the money he needs to get off the streets.
One hungry squirrel
If you feel bloated and unmotivated, don't worry - you're in good company. A greedy squirrel ended up stuck in a birdfeeder in Durham, after his chunky body left him trapped. The squirrel had bitten off more than he could chew and after struggling to get himself out after eating nuts in the feeder, the homeowner resorted to calling the RSPCA to free him.
Missing cat invades football pitch and is reunited with owner
Topsey the cat invaded the pitch during a match between Sheffield Wednesday and Wigan Athletic at Hillsborough Stadium. After the game was stopped so Topsey could have her belly tickled and be escorted off the pitch, she was reunited with owner after being missing for 8 months.