A heartbroken mother today opened up about the fate of her toddler with a crippling brain disorder that usually kills toddlers when they turn five.
Three-year-old Nellie Gillett, from Brighton, was a ‘healthy’ baby and was developing as expected before her diagnosis.
But in May 2022, when she was just one, Nellie’s mother Megan noticed she was squeezing her eyes shut and having trouble walking, so she took her to the doctor.
Ms Gillett, 35, and her partner Tom Oakshot, 39, suspected she had cerebral palsy. Doctors diagnosed the toddler with metachromatic leukodystrophy (MLD).
The incurable brain disease, which affects one in 40,000 babies, is slowly becoming damaged the nervous system and organs, leading to the loss of physical and mental skills.
The couple have now vowed to ‘find the joy of everyday life’, make the most of the time they have with their daughter and ‘keep living – and not focus on the dying’.
Three-year-old Nellie Gillett, from Brighton, was a ‘healthy’ baby and was developing as expected. But in May 2022, when she was just one, her mother Megan noticed she was starting to look cross-eyed and had trouble walking, so she took her to the doctor. In the photo Nellie with mother Megan
Ms Gillett, 35, and her partner Tom Oakshot, 39, suspected she had cerebral palsy. But doctors diagnosed the toddler with metachromatic leukodystrophy (MLD). The brain disorder, which affects one in 40,000 babies and has no cure, damages the nervous system and organs, leading to the loss of physical and mental skills. In the photo Megan and Tom with Nellie
Nellie’s parents have now vowed to ‘find the joy of everyday life’, make the most of the time they have with their daughter and ‘keep living – and not focus on the dying’. Nellie’s brother, five-month-old Ozzy, has since tested negative for MLD. In the photo Nellie with brother Ozzy
Mrs Gillett, a personal banker, said: ‘In just a few months, Nellie went from being an able child – even though she couldn’t walk – to being unable to do anything at all.
‘It was heartbreaking.
‘I don’t want people to think that a diagnosis is always the end.
‘We try to stay alive, and not focus on the dying. I don’t want it to be sad all the time and find the joy in everyday life.
“She may have lost everything, but to me she is still magical.”
MLD is an inherited condition caused by an abnormal build-up of substances called sulfatides in nerve cells, especially in the white matter of the brain.
Sulfatides are normally broken down and removed from the body by an enzyme called arylsulfatase A. But the gene responsible for producing this enzyme is defective in people with ALS.
As a result, sulfatides block the transmission of vital messages between nerves.
In England, approximately four children are born with MLD every year.
The first symptoms develop between the ages of six months and two years and include drooping and a child not developing as expected.
Young people eventually lose understanding and awareness of their environment, have seizures and can no longer chew or swallow.
Children with onset of MLD before age 30 months – the most common and fastest progressing type – typically have a life expectancy between five and eight months.
Mrs Gillett, a personal banker, said: ‘In just a few months, Nellie went from being an able child – even though she couldn’t walk – to being unable to do anything at all. It was heartbreaking. ‘I don’t want people to think that a diagnosis is always the end. ‘We try to stay alive, and not focus on the dying. I don’t want it to always be sad, finding the joy in everyday life’
A JustGiving crowdfunder campaign has been launched to raise money for Nellie’s hospice, Chestnut Tree House Children’s Hospice, raising more than £2,000 since August. In the photo Nellie with Tom
Those whose MLD starts later have a life expectancy 10 to 20 years longer, data shows.
Nellie’s brother, five-month-old Ozzy, has since tested negative for MLD.
Mrs. Gillett was told by doctors that Nellie needed hospice care.
She said: ‘It was absolutely horrifying to receive the news that Nellie’s life would be cut short.
“They took us into a room and told us the only treatment available was through hospice.”
She added: ‘We stopped working and had a great summer doing everything we wanted – Peppa Pig parties, festivals, static caravan holidays, constant days out.
‘We don’t want to be sad. When she’s gone, we can be sad. She is still there and can laugh.
‘There are many more things to do, such as swimming, interacting with animals, music days, racing cars and play groups.
‘Our hospice nurse, Emma Sharp, is an angel and has helped Nellie discover her inner adrenaline junkie, with skiing, zip lining and speed boating in her diary.’
a JustGiving crowdfunder campaign was launched to raise money for Nellie’s hospice, Chestnut Tree House Children’s Hospice, and has raised over £2,000 since August.
Mrs Gillett and her brother, Rory, 32, I’m also planning to abseil on Brighton’s i360 on November 24th to raise money.
Pascale Harvie, president and CEO of JustGiving, said, “I was deeply saddened to hear little Nellie’s story.
“No parent should ever have to face the possibility of losing their child, and yet despite what Megan is going through, she has somehow found the strength and courage to take on this challenge.
“Megan is an amazing mother and an incredible person. I wish her the best of luck with her abseil.’
Earlier this year, Teddi Shaw, now two, became the first child to receive a revolutionary gene therapy from the NHS to treat MLD – the most expensive drug the health service has ever prescribed.
She is now a healthy and happy toddler and shows no signs of the devastating disease she was born with.