Mother reveals her three-year-old son’s debilitating battle with dementia – as she says he has lost the ability to walk and talk

By James On Aug 21, 2023

A mother has revealed her three-year-old son’s grueling battle with dementia.

Joey Walton, from Wakefield, West Yorkshire, was diagnosed as a baby with metachromatic leukodystrophy (MLD), a rare genetic disorder that causes fatty substances to build up in the nerves, organs, spinal cord and brain.

MLD causes the loss of both physical and mental abilities, meaning Joey is unlikely to live past age seven.

He has now lost all the skills he had developed as a toddler, such as being able to walk and talk.

Speak against The sunhis heartbroken parents, Katie and Liam Roebuck, have said their son has deteriorated significantly over the past 12 months.

Joey had been diagnosed with metachromatic leukodystrophy (MLD), a rare genetic disorder that causes fatty substances to build up in the nerves, organs, spinal cord and brain

Katie, 35, described the devastating moment when Joey stopped making progress as a healthy young child, prompting her to contact his health visitor.

She said, “Over the next two months, his legs started to bend and his feet started to turn outward.”

Liam and Katie then took Joey to a physiotherapist, who immediately discovered something was wrong when Joey could no longer sit on his own.

Unfortunately, treatment has not become an option for Joey, whose MLD was discovered too late.

If the diagnosis is made at an earlier stage, treatment can help the patient have a higher chance of survival.

Meanwhile, Katie and Liam do everything they can to make the most of the time their son has left.

Katie said: ‘We’ve been on day trips and he especially loved seeing the Gruffalo in Blackpool.’

The parents are also supporting a campaign calling for MLD screening for every child at birth.

What is Metachromatic Leukodystrophy (MLD)?

Metachromatic leukodystrophy (MLD) is a rare, genetic, degenerative, neurometabolic disorder that affects approximately one in 40,000 people (mostly children) worldwide.

It is a hereditary disease, but parents are usually not affected.

At the moment it is a disease for which there is no cure. Those who suffer from MLD are deficient in the arylsulfatase-A enzyme, which is responsible for breaking down fatty substances called sulfatides into harmless chemicals.

A person with MLD cannot break down these sulfatides, so they build up in the body.

This buildup causes the destruction of myelin (demyelination), the protective layer on the nerve fibers that allows communication between the nerves and the brain.

There are different forms of MLD:

Late infantile: Affects children under age 4 and is the most common form of the disease. Motor milestones and some cognitive functions are lost.

The disease progresses rapidly and death usually occurs within 5-6 years.

Early juvenile: Affects children aged 4-6 years and is evidenced by the loss of motor milestones along with learning and behavioral disabilities. Death usually occurs within 10-15 years.

Late juvenile: affects children between the ages of 6 and 16. This form of MLD is often represented by personality and behavior changes and dementia.

Adult: This form of the disease is very rare and symptoms include personality and behavior changes along with dementia. As with the late juvenile form, disease progression is very slow.

Bone marrow and stem cell transplants have been successful in slowing or stopping MLD in patients who have no symptoms.

In the late infantile stage, the most common and most aggressive form of the disease, transplants can generally only take place in younger siblings of patients who have been diagnosed with MLD.

All information courtesy of The Evanosky Foundation.

MLD causes the loss of both physical and mental abilities – in Joey’s case, a significant decline over the past 12 months – meaning he is unlikely to live past the age of seven

Unfortunately, treatment has not been made an option for Joey, whose MLD was discovered too late and could have been treated if diagnosed at an earlier stage

Parents Katie and Liam are doing everything they can to make the most of the time their son has left, including day trips to Liverpool to see his beloved Gruffalo.

They have said the campaign is worth supporting as they can help prevent more families from going through the pain of losing their child at such a young age.

This heartbreaking case comes as recent research by the charity Dementia UK shows that currently 70,800 people are under the age of 65 and are classified as having early onset dementia.

While most people with the disease develop it after age 65, it can also occur in younger people, leading to symptoms such as memory loss and confusion, as well as problem solving and language problems.

‘I’ve seen patients in their 20s – the youngest was 18,’ says Dr Hilda Hayo, CEO of Dementia UK.

Younger people tend to develop rarer forms of dementia, and the younger the patient, the more likely their symptoms include non-memory skills, such as changes in vision and language, behavior, or movement problems.