Eivind Ertesvag 
Three-year-old Joey Walton from Yorkshire, England, has lost all the skills he had learned during his short life. He learned to walk and talk. But now it’s gone.
– When Joey suddenly stopped making progress, I reached out to the health nurse. Over the next two months, his legs began to bend and his feet started turning outward. By the time we got to the physiotherapist, Joey had also lost the ability to sit up, so she knew something was wrong, Katie tells The Sun. She is the mother of the little boy.
Joey was diagnosed with metachromatic leukodystrophy (MLD) – a rare genetic condition that causes the buildup of fatty substances in the brain, spinal cord, nerves, and organs.
Frambu Competence Center confirms that metachromatic leukodystrophy is a severe inherited progressive disease that primarily affects the nervous system. It is difficult to provide an exact prevalence, but international literature estimates it to be between 1-4 per 100,000 births (1). In Norway, this means that approximately one child with MLD is born every year.
As the disease progresses, it leads to loss of physical and mental abilities. Joey is unlikely to live to the age of seven.
When Joey received the diagnosis, it was devastating for the family. Over the past year, the parents have witnessed a significant decline in their son’s health. However, Katie and Joey’s father, Liam, are doing their best to make the most of the time they have left with their son.
The small family has been on several day trips together to experience joy while Joey is still alive.
If MLD is detected at an early stage, treatment options are available. That’s why Katie is actively involved in a campaign to make MLD screening a standard practice at birth.
«It’s too late for Joey, but if we can prevent more families from going through this pain, it’s worth it,» she tells The Sun.
