A heartbroken mother spoke today about the fate of her toddler with a debilitating brain disorder that usually kills young children by the time they turn five.
Three-year-old Nellie Oakshott, from Brighton, was a “healthy” baby and was developing as expected before her diagnosis.
But in May 2022, when she was just one year old, Nellie’s mother, Megan Gillett, noticed she was blinking and having trouble walking, so she took her to the doctor.
Ms Gillett (35) and her partner Tom Oakshott (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 damaged the nervous system and organs, leading to loss of physical and mental abilities.
The couple have now vowed to “find the joy in everyday life”, make the most of the time they have with their daughter and “keep living – and not focus on those who die”.
Three-year-old Nellie Oakshott from Brighton was a “healthy” baby and was developing as expected. But in May 2022, when she was just a year old, her mother, Megan Gillett, noticed that she was squinting 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 Oakshott (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 and causes loss of physical and mental abilities. In the photo Megan and Tom with Nellie
Nellie’s parents have now vowed to “find the joy in everyday life”, to make the most of the time they have with their daughter and to “keep living – and not focus on those who die “. Nellie’s brother, five-month-old Ozzy, has since tested negative for MLD. In the photo Nellie with brother Ozzy
Ms Gillett, a private banker, said: “Within a few months, Nellie went from being an able child – although she couldn’t walk – to a person who couldn’t do anything at all.”
“It was heartbreaking.
“I don’t want people to think that a diagnosis always means the end.”
“We try to stay alive and not focus on the dying.” I don’t want to be sad all the time and I want to find joy in everyday life.
“She may have lost everything, but to me she is still magical.”
MLD is an inherited disease caused by an abnormal build-up of substances called sulfatides in nerve cells, particularly 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.
This causes sulfatides to block the transmission of vital messages between nerves.
In England, around four children are born with MLD each year.
The first symptoms appear between the ages of six months and two years and include hanging and the child not developing as expected.
Over time, young people lose understanding and awareness of their surroundings, have seizures and can no longer chew or swallow.
Children whose MLD begins before 30 months of age – the most common and rapidly progressive form – typically have a life expectancy of between five and eight months.
Ms Gillett, a private banker, said: “Within a few months, Nellie went from being an able child – although she couldn’t walk – to a person who couldn’t do anything at all. “It was heartbreaking. “I don’t want people to think that a diagnosis always means the end.” “We try to stay alive and not focus on the dying.” I don’t want it to always be sad, find the joy in everyday life.
A JustGiving crowdfunder campaign was launched to raise money for Nellie’s hospice, Chestnut Tree House Children’s Hospice. More than £2,000 has been raised since August. In the photo Nellie with Tom
Data show that those whose MLD starts later have a 10 to 20 year longer life expectancy.
Nellie’s brother, five-month-old Ozzy, has since tested negative for MLD.
Ms Gillett was told by doctors that Nellie needed hospice care.
She said: “It was absolutely terrible to receive the news that Nellie’s life was going to be cut short.”
“They put us in a room and told us the only treatment available was hospice.”
She added: “We stopped working and had a great summer with everything we wanted – Peppa Pig parties, festivals, static caravan holidays, constant trips.”
“We don’t want to be sad.” When she is gone, we can be sad. She is still there and can laugh.
“There is much more to do, such as swimming, interacting with animals, music days, racing cars and playgroups.”
“Our hospice nurse Emma Sharp is an angel and helped Nellie discover her inner adrenaline junkie, with skiing, ziplining and speed boating in her schedule.”
A JustGiving crowdfunder campaign was launched to raise money for Nellie’s hospice, Chestnut Tree House Children’s Hospice. More than £2,000 has been raised since August.
Ms Gillett and her brother Rory, 32, I also plan to rappel down Brighton’s i360 on November 24 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 despite everything Megan has been through, she somehow found the strength and courage to take on this challenge.
“Megan is a wonderful mother and an incredible person. I wish her luck with her rappelling.’
Teddi Shaw, now two, earlier this year became the first child on the NHS to receive revolutionary gene therapy 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.
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Crystal Leahy is an author and health journalist who writes for The Fashion Vibes. With a background in health and wellness, Crystal has a passion for helping people live their best lives through healthy habits and lifestyles.
