Scunthorpe mum discovers child had Hurler Syndrome after Googling 'bushy eyebrows'
Video report by Amelia Beckett.
A mother who discovered her daughter had a rare genetic disorder after googling "bushy eyebrows" is calling for routine screening for the condition.
Pamela Ives says she began searching online for facial features similar to those of her daughter, Sophia, after she began to lose physical similarities with her and her husband.
She said: "From around six months, I knew there was something not right with her because she wasn't able to do tummy time, she had low muscle tone, and she was sensitive to light.
"I happened to Google bushy eyebrows and then MPS (Mucopolysaccharidosis) came up.
"[Google] said there's a one in 100,000 chance of your child having this syndrome. But I just knew that she had it from that point.
"When I told my husband he thought I was going crazy. He said the condition is so so rare and there's no chance our daughter could have that."
What is Hurler Syndrome?
Mucopolysaccharidosis (MPS 1), also known as Hurler Syndrome, is a rare disorder where the body lacks an enzyme needed to break down complex sugar molecules.
It causes the molecules to accumulate and when there's too much toxic buildup in cells they die or don't function properly.
Children with Hurler Syndrome are usually not born with signs but develop symptoms during the first year of life.
Symptoms include an enlarged head with prominent frontal bones, protruding eyes, enlarged lips and wide-open eyes.
Children with this condition can also have heart valve problems, hearing loss, vision problems and respiratory issues.
If Hurler Syndrome is not treated early it can be fatal.
Developmental delay can become apparent by the age of 1 to 2 years and children with the condition have an average life expectancy of 5 years.
Pamela added: "It wasn't until 14 months that we actually got the official diagnosis.
"Personally I feel angry that it took until 14 months for her to get her diagnosis of MPS.
"I want to raise awareness and I'm quite passionate about the UK changing it so they are tested on the new born screening.
"I do know that some countries do test on the new born screening but unfortunately the UK isn't one of them."
The Government previously said it does not recommend newborn screening for the condition.
Treatment for Hurler Syndrome usually involves a bone marrow transplant before the age of two, for which a match is needed.
But Sophia has been selected as one of 40 children worldwide for an experimental gene replacement therapy trial.
It involves her own genes being sent to Milan where they will be modified and sent back to the UK to be implanted back into Sophia's body at Manchester Children's Hospital.
Prof Robert Wynn: "Because she is her own donor it's actually a much safer transplant than using another person where we have to use drugs that immunosuppress and stop complications.
"What I'm seeing after 25 years of looking after kids with hurler syndrome having transplants is a transformation of results."
Sophia will also have to undergo chemotherapy which is required to weaken her immune system significantly.
Try Our AI Features
Explore what Daily8 AI can do for you:
Comments
No comments yet...
Related Articles
South Wales Guardian
3 hours ago
- South Wales Guardian
Reeves announces £6 billion to provide millions of NHS tests and procedures
New scanners, ambulances and urgent treatment centres are among the things which the additional cash will pay for, with the aim of providing up to four million more tests and procedures over the next five years. The announcement comes after the Chancellor put NHS funding at the heart of her spending review on Wednesday, raising its budget in a move worth £29 billion a year. This comes, however, at the expense of other areas of public spending. The new £6 billion funding will help to meet the Government's target of reducing NHS waiting lists in England, the Chancellor claimed. 'Over a decade of underinvestment from the previous government put the NHS on its knees, with people across the country unable to get the care they need. We are investing in Britain's renewal, and we will turn that around,' Ms Reeves said. She added: 'Part of our record investment will deliver four million tests, scans and procedures, so hard-working people can get the healthcare they and their families need. 'There is no strong economy without a strong NHS, and we'll deliver on our Plan for Change to end the hospital backlog, improve living standards and get more money in people's pockets.' The latest spending commitment will help patients get access to diagnostic scans and treatment in places such as shopping centres and high streets, speeding up their diagnoses. The Government hopes this will help to cut NHS waiting lists, meeting Labour's goal of ensuring the health service carries out 92% of routine operations within 18 weeks. Health Secretary Wes Streeting said: 'Since taking office we have been relentless in our drive to cut waiting times for patients, delivering over 3.6 million extra elective care appointments and reducing the overall waiting list by over 200,000. 'The £6 billion investment we are announcing today will generate millions more vital diagnostic tests, scans and procedures for patients across the country.' On Wednesday evening, Ms Reeves said the Government was 'confident' it could meet its pledge to reduce waiting lists after giving the NHS a 3% annual increase in funding at the spending review. Some health leaders are, however, sceptical that the Government will meet its target, despite the funding boost provided at the spending review. Matthew Taylor, chief executive of the NHS Confederation, which represents all health organisations, warned 'difficult decisions will still need to be made as this additional £29 billion won't be enough to cover the increasing cost of new treatments, with staff pay likely to account for a large proportion of it'. He added: 'So, on its own, this won't guarantee that waiting time targets are met.' Sarah Woolnough, chief executive of the King's Fund charity, said: 'The Chancellor said she wants the public to have an NHS there when they need it. 'It is hard to see how all the things she mentions: faster ambulance times, more GP appointments, and adequate mental health services and more can be met on this settlement alone. 'Particularly when large parts of this additional funding will be absorbed by existing rising costs, such as the higher cost of medicines, which are currently being negotiated, and covering staff pay deals.'
South Wales Argus
4 hours ago
- South Wales Argus
Reeves announces £6 billion to provide millions of NHS tests and procedures
New scanners, ambulances and urgent treatment centres are among the things which the additional cash will pay for, with the aim of providing up to four million more tests and procedures over the next five years. The announcement comes after the Chancellor put NHS funding at the heart of her spending review on Wednesday, raising its budget in a move worth £29 billion a year. This comes, however, at the expense of other areas of public spending. The new £6 billion funding will help to meet the Government's target of reducing NHS waiting lists in England, the Chancellor claimed. 'Over a decade of underinvestment from the previous government put the NHS on its knees, with people across the country unable to get the care they need. We are investing in Britain's renewal, and we will turn that around,' Ms Reeves said. She added: 'Part of our record investment will deliver four million tests, scans and procedures, so hard-working people can get the healthcare they and their families need. 'There is no strong economy without a strong NHS, and we'll deliver on our Plan for Change to end the hospital backlog, improve living standards and get more money in people's pockets.' The latest spending commitment will help patients get access to diagnostic scans and treatment in places such as shopping centres and high streets, speeding up their diagnoses. The Government hopes this will help to cut NHS waiting lists, meeting Labour's goal of ensuring the health service carries out 92% of routine operations within 18 weeks. Health Secretary Wes Streeting said: 'Since taking office we have been relentless in our drive to cut waiting times for patients, delivering over 3.6 million extra elective care appointments and reducing the overall waiting list by over 200,000. 'The £6 billion investment we are announcing today will generate millions more vital diagnostic tests, scans and procedures for patients across the country.' On Wednesday evening, Ms Reeves said the Government was 'confident' it could meet its pledge to reduce waiting lists after giving the NHS a 3% annual increase in funding at the spending review. Chancellor of the Exchequer Rachel Reeves during a visit to St Thomas' Hospital in London, following the spending review (Carl Court/PA) Some health leaders are, however, sceptical that the Government will meet its target, despite the funding boost provided at the spending review. Matthew Taylor, chief executive of the NHS Confederation, which represents all health organisations, warned 'difficult decisions will still need to be made as this additional £29 billion won't be enough to cover the increasing cost of new treatments, with staff pay likely to account for a large proportion of it'. He added: 'So, on its own, this won't guarantee that waiting time targets are met.' Sarah Woolnough, chief executive of the King's Fund charity, said: 'The Chancellor said she wants the public to have an NHS there when they need it. 'It is hard to see how all the things she mentions: faster ambulance times, more GP appointments, and adequate mental health services and more can be met on this settlement alone. 'Particularly when large parts of this additional funding will be absorbed by existing rising costs, such as the higher cost of medicines, which are currently being negotiated, and covering staff pay deals.'
Glasgow Times
4 hours ago
- Glasgow Times
Reeves announces £6 billion to provide millions of NHS tests and procedures
New scanners, ambulances and urgent treatment centres are among the things which the additional cash will pay for, with the aim of providing up to four million more tests and procedures over the next five years. The announcement comes after the Chancellor put NHS funding at the heart of her spending review on Wednesday, raising its budget in a move worth £29 billion a year. This comes, however, at the expense of other areas of public spending. The new £6 billion funding will help to meet the Government's target of reducing NHS waiting lists in England, the Chancellor claimed. 'Over a decade of underinvestment from the previous government put the NHS on its knees, with people across the country unable to get the care they need. We are investing in Britain's renewal, and we will turn that around,' Ms Reeves said. She added: 'Part of our record investment will deliver four million tests, scans and procedures, so hard-working people can get the healthcare they and their families need. 'There is no strong economy without a strong NHS, and we'll deliver on our Plan for Change to end the hospital backlog, improve living standards and get more money in people's pockets.' The latest spending commitment will help patients get access to diagnostic scans and treatment in places such as shopping centres and high streets, speeding up their diagnoses. The Government hopes this will help to cut NHS waiting lists, meeting Labour's goal of ensuring the health service carries out 92% of routine operations within 18 weeks. Health Secretary Wes Streeting said: 'Since taking office we have been relentless in our drive to cut waiting times for patients, delivering over 3.6 million extra elective care appointments and reducing the overall waiting list by over 200,000. 'The £6 billion investment we are announcing today will generate millions more vital diagnostic tests, scans and procedures for patients across the country.' On Wednesday evening, Ms Reeves said the Government was 'confident' it could meet its pledge to reduce waiting lists after giving the NHS a 3% annual increase in funding at the spending review. Chancellor of the Exchequer Rachel Reeves during a visit to St Thomas' Hospital in London, following the spending review (Carl Court/PA) Some health leaders are, however, sceptical that the Government will meet its target, despite the funding boost provided at the spending review. Matthew Taylor, chief executive of the NHS Confederation, which represents all health organisations, warned 'difficult decisions will still need to be made as this additional £29 billion won't be enough to cover the increasing cost of new treatments, with staff pay likely to account for a large proportion of it'. He added: 'So, on its own, this won't guarantee that waiting time targets are met.' Sarah Woolnough, chief executive of the King's Fund charity, said: 'The Chancellor said she wants the public to have an NHS there when they need it. 'It is hard to see how all the things she mentions: faster ambulance times, more GP appointments, and adequate mental health services and more can be met on this settlement alone. 'Particularly when large parts of this additional funding will be absorbed by existing rising costs, such as the higher cost of medicines, which are currently being negotiated, and covering staff pay deals.'
