07-05-2025
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.
