An eight-year-old Cheshire girl with a rare degenerative disease has become one of the first to receive a pioneering new treatment that will attempt to save her eyesight.
Amelia Carroll, from Poynton near Stockport, was diagnosed with CLN2 Batten disease – an incurable and fatal condition that affects roughly around 30-50 children in the UK – when she was just two.
The disease is caused by a change in a gene that is responsible for making a specific enzyme in the nervous system, and it results in seizures, a gradual decline in a child’s ability to walk, speak and see, as well as progressive dementia.
Amelia’s 11-year-old brother Ollie also has the same condition, yet has sadly already lost his eyesight.
“We have watched our son Ollie go blind, and now the same is starting to happen to Amelia,” mother Lucy Carroll explained, which is why her and her husband Mike decided to contribute to a fundraising campaign together with families of other children affected by the disease alongside the Battens Disease Family Association (BDFA) to help fund a world-first trail of a groundbreaking new treatment at Great Ormond Street Hospital (GOSH).
ADVERTISEMENT
Over £200,000 was raised through the campaign, and clinicians and researchers at GOSH and ICH say the treatment programme has the potential to transform the quality of life for children living with CLN2 Batten disease.
Amelia became one of the first children in the world to receive the treatment, and is said to already be responding to it “perfectly”, CheshireLive reports.
ADVERTISEMENT
For the past two years, enzyme replacement therapy has been used to help prevent neurological deterioration in children with CLN2 disease. The drug, called Brineura, was first approved for use on the NHS in 2019 and is administered directly into the brain by a regular infusion.
It has shown to restore enzyme activity and slow the onset of disability.
However, this infusion into the brain does not prevent children going blind, as the enzyme cannot cross the blood-retina barrier, and this means that the nerves in the eye cannot function and vision is lost, which is why clinicians and researchers at GOSH and ICH are trying a the treatment to prevent the onset of blindness instead.
ADVERTISEMENT
To do this, GOSH said they are using the tiny amount of the drug leftover from the brain infusion and injecting it directly into the back of the eye.
The 18-month treatment trail – which is said to be being given on a compassionate use basis – hopes to prevent eyesight deterioration in children by providing the enzyme that the nerves in the back of the eye need to function.
Ms Carroll said “to save a child’s sight would be incredible”, and if it does indeed work, it would “make such a big difference to Amelia’s quality of life”.
“We just pray it works,” she added.
Speaking on the groundbreaking treatment trail, Professor Paul Gissen, from GOSH and the UCL GOS Institute of Child Health, said: “If successful, we hope our work 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.”
ADVERTISEMENT
Amelia’s father, Mike Carroll, said the “amazing” nurses and doctors treating his daughter were “incredible”.
Manchester-born Lord of the Rings and Titanic actor Bernard Hill dies aged 79
Danny Jones
Manchester actor, best known for roles in Lord of the Rings, Titanic, Shirley Valentine and more, has sadly died at the age of 79.
Born in Blackley near the River Irk, historically part of Lancashire, the familiar British face who often popped up in Hollywood too famously played Théoden, the King of Rohan, in the original trilogy of fantasy films as well as Captain Edward Smith in Titanic.
His death was announced by his agent Lou Coulson via the BBC, who confirmed that he passed away in the early hours of Sunday morning.
A statement from his family is expected soon and tributes are already pouring in online.
Hill studied at what is now the Manchester School of Theatre, formerly known as the Polytechnic School of Theatre and also went on to appear in the much-loved BBC drama by Alan Bleasdale, Boys from the Blackstuff, back in 1982.
Playing the character of Yosser Hughes – best-known for the line “gizza a job” – the show went on to be awarded a BAFTA for best drama series in 1983 and was ranked as the seventh best TV show ever made on a 2000 round-up by the British Film Institute
He was also due for a big return to TV screens in series two of another BBC hit, The Responder starring Martin Freeman, which begins airing at 9pm this Sunday.
Stuart Everett – family of man whose torso was found in Kersal Dale pay tribute to ‘endearing character’
Daisy Jackson
The family of the man whose torso was found in Kersal Dale in Salford have paid tribute to him after his ‘untimely death’.
After the torso of Stuart Everett was discovered on 4 April, further parts of his body were found in four different areas of the city.
GMP launched an extensive murder inquiry and a huge search effort to correctly identify Stuart and notify his family of his death.
It’s thought the 67-year-old died at an address in Winton at the end of March.
His family have now issued a tribute to his ‘endearing character’ and thanked the public for their messages of support.
In a statement issued through GMP, they said: “We as a family are united in our grief over the devastating news of Stuart’s untimely death and the manner in which he died.
“He was a unique and endearing character who always put his family and many friends first.
“He loved his food his garden his music and a flutter on the horses, we have been overwhelmed with the messages of support and are thankful that so many people thought so much of him.
“He did not deserve to die the way he did and will be eternally missed. R.I.P.”
Two men have been charged with the murder of Stuart Everett.
The searches across Salford at sites at Blackleach Reservoir, Linneyshaw Colliery Wood, Bridgewater Canal, and a house in the Winton area of the city, as well as a warehouse in Bury, are continuing.
GMP is continuing to receive details from the public that may assist these searches. Any further information should be given by calling 101 and quoting log number 2695 of 4 April 2024.
If you would like to remain anonymous, details can be shared via the independent charity Crimestoppers by calling 0800 555 111.