A heartbroken mother has told how her young son could only live until his fifth birthday after he was diagnosed with a rare brain disorder.
Three-year-old Nellie Gillett, from Brighton, had been a “healthy” baby and was developing as expected.
But in May 2022, when she was just one year old, her mother Megan noticed that she had squinted and was having trouble starting to walk, so she took her to the doctor.
Mrs Gillett, 35, and her partner Tom Oakshot, 39, suspected he might have cerebral palsy. But doctors diagnosed the boy with metachromatic leukodystrophy (MLD).
The brain disorder, which affects one in 40,000 babies and has no cure, damages the nervous system and organs, causing the loss of physical and mental abilities.
The couple have now vowed to “find joy in everyday life”, make the most of the time they have with their daughter and “keep living, not focus on the dying”.
Three-year-old Nellie Gillett, from Brighton, had been a “healthy” baby and was developing as expected. But in May 2022, when she was just one year old, her mother Megan noticed that she had squinted and was having trouble starting to walk, so she took her to the doctor. In the photo, Nellie with mom Megan
Mrs Gillett, 35, and her partner Tom Oakshot, 39, suspected he might have cerebral palsy. But doctors diagnosed the boy with metachromatic leukodystrophy (MLD). This brain disorder, which affects one in every 40,000 babies and has no cure, damages the nervous system and organs, causing the loss of physical and mental abilities. In the photo, Megan and Tom with Nellie.
Nellie’s parents have now vowed to “find joy in everyday life”, make the most of the time they have with their daughter and “keep living, not focus on the dying”. Nellie’s brother, five-month-old Ozzy, has since tested negative for MLD. In the photo, Nellie with her brother Ozzy.
Mrs Gillett, a personal banker, said: “In just a few months, Nellie went from being a capable child, although she didn’t walk, to not being able to do anything at all. It was heartbreaking.
‘I don’t want people to think that a diagnosis is always the end.
‘We are trying to continue living, not focus on the dying. I don’t want it to always be sad, to find joy in everyday life.
“I may have lost everything, but it’s still magical to me.”
MLD is an inherited disorder caused by an abnormal buildup of substances, called sulfatides, in nerve cells, particularly the white matter of the brain.
Sulfatides are normally broken down and eliminated from the body by an enzyme called arylsulfatase A. But the gene responsible for producing this enzyme is defective among people with NMD.
As a result, sulfatides block the transmission of vital messages between nerves.
In England around four children a year are born with MLD.
The first symptoms develop between six months and two years of age and include becoming limp and the child not developing as expected.
The young eventually lose understanding and awareness of their surroundings, suffer seizures, and can no longer chew or swallow.
Children whose MLD begins before 30 months (the most common and most rapidly progressing type) and usually die between the ages of five and eight.
Mrs Gillett, a personal banker, said: “In just a few months, Nellie went from being a capable child, although she didn’t walk, to not being able to do anything at all. It was heartbreaking. ‘I don’t want people to think that a diagnosis is always the end. ‘We are trying to keep living, not focus on the dying. I don’t want it to always be sad, find joy in everyday life.’
A JustGiving crowdfunding campaign has been launched to help raise money for Nellie’s hospice, Chestnut Tree House Children’s Hospice, and has raised more than £2,000 since August. In the photo, Nellie with Tom
Those whose MLD begins between 30 months and six years of age have a life expectancy of 10 to 20 years longer.
Nellie’s brother, five-month-old Ozzy, has since tested negative for MLD.
Doctors informed Mrs. Gillett that Nellie would need palliative care.
She said: “It was absolutely horrible to receive the news that Nellie’s life was going to be cut short.
“They took us to a room and told us the only treatment available was through hospice.”
He added: “We stopped working and had an incredible summer doing everything we wanted – Peppa Pig parties, festivals, static caravan holidays, constant days off.”
‘We don’t want to be sad. When she leaves, that’s when we can be sad. She is still here and she can smile.
‘There are lots of other things to do including swimming, animal care, music days, car races and playgroups.
“Our palliative care nurse, Emma Sharp, is an angel and has helped Nellie discover her inner adrenaline junkie, with skiing, zip lining and speed boating opportunities on the daily.”
TO JustGiving crowdfunding campaign was launched to help raise funds for Nellie’s hospice, Chestnut Tree House Children’s Hospice, raising more than £2,000 since August.
Mrs Gillett and her brother, Rory, 32, We are also planning to abseil down the i360 in Brighton on November 24th to help raise funds.
Pascale Harvie, chair and CEO of JustGiving, said: “I was deeply saddened to hear little Nellie’s story.
“No parent should 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 face this challenge.
“Megan is an amazing mom and all-around amazing person. I wish her the best of luck with her rappelling.”
Earlier this year, Teddi Shaw, now two, became the first child to receive a breakthrough gene therapy on the NHS to treat MLD, the most expensive drug ever prescribed by the health service.
She is now a healthy, happy little girl and shows no signs of the devastating disease she was born with.
