Mother’s agony as three-year-old daughter’s squint turns out to be a deadly brain disorder that kills most kids before they turn five

A heartbroken mother has today told of her toddler’s plight with a crippling brain disorder that typically kills toddlers by the time they turn five.

Three-year-old Nellie Gillett, from Brighton, was a ‘healthy’ baby and developing as expected before her diagnosis. 

But in May 2022, aged just one, Nellie’s mother Megan noticed she was squinting and struggling to start walking so took her to the doctor. 

Ms Gillett, 35 and her partner Tom Oakshot, 39, suspected she may have cerebral palsy. Medics actually 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.

The couple have now vowed to ‘find the joy in the day to day’, making the most of the time they have with their daughter and ‘keep living — not focus on the dying’.

Ms Gillett, a personal banker, said: ‘In just months, Nellie went from being an able child — albeit not walking — to not being able to do anything at all. It was heartbreaking.

‘I don’t want people to think a diagnosis is always the end.

‘We’re trying to keep living, not focus on the dying. I don’t want it to always be sad, finding the joy in the day to day.

‘She might have lost everything but to me she’s still magical.’

MLD is an inherited disorder caused by an abnormal build-up of substances, called sulphatides, in the nerve cells, particularly in the white matter of the brain. 

Sulphatides are normally broken down and removed from the body by an enzyme, called arylsulphatase A. But the gene responsible for producing this enzyme is faulty among those with MND.

As a result, sulphatides blocks the transmission of vital messages between nerves.

Around four children a year are born with MLD in England. 

Early symptoms develop between the age of six months and two years and include becoming floppy and a child not developing as expected. 

Youngsters eventually lose understanding and awareness of their surroundings, suffer seizrues and can no longer chew or swallow.

Children whose MLD starts before 30 months — the most common and the most rapidly progressing type — and usually die between the ages of five and eight.

Those whose MLD begins between 30 months and six years of age have a life expectancy of 10 to 20 years more. 

Nellie’s brother, five month old Ozzy, has since tested negative for MLD. 

Ms Gillett was informed by medics that Nellie would require hospice care.

She said: ‘It was absolutely horrific getting the news that Nellie’s life was going to be cut short.

‘They took us in a room and told us the only available treatment was through the hospice.’

She added: ‘We stopped working and had an amazing 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 — that’s when we can be sad. She’s still here and can smile.

‘There’s lots of other things to do — such as swimming, animal handling, music days, race cars and play groups.

‘Our hospice nurse, Emma Sharp, is an angel and has helped Nellie discover her inner adrenaline junkie, with skiing, zip wire and speedboat opportunities all in the diary.’

A JustGiving crowdfunder campaign has been launched to help raise funds for Nellie’s hospice, Chestnut Tree House Children’s Hospice, raising over £2,000 since August. 

Ms Gillett and her brother, Rory, 32, also plan to abseil down Brighton’s i360 on November 24 to help fundraise. 

Pascale Harvie, president and general manager at 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 Mum and an all-round incredible person, I wish her the best of luck with her abseil.’

Earlier this year, Teddi Shaw, now two, became the first child to get a revolutionary gene therapy on 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.