HEARTBREAKING
‘It’s like Alzheimer’s and Motor Neurone Disease (MND) in a baby.’
“SHE is a beautiful little soul.”
Those are the words that Maebhe Gorman’s aunt uses to best describe a two-year-old girl living with the devastating MLD disease.
MLD is not a commonly known illness. Its full name is Metachromatic leukodystrophy, and is also referred to as globoid cell leukodystrophy. It is an inherited genetic disorder that comes in three forms – late infantile, juvenile and adult.
There is no cure for MLD once it has progressed.
Maebhe Gorman is the daughter of John and Veronica, and little sister to Valentina (or Tina). The family moved to Woodlawn in East Galway from Dublin on Christmas Eve of 2022.
Maebhe was born on September 7 of 2021. She was diagnosed with the juvenile form of the debilitative disease in November of last year by a neurologist in Dublin’s Temple Street Children’s Hospital, after tests had ruled out Cerebral Palsy and Spinal Muscular Atrophy (SMA).
“It’s taken months for us all to come to terms with it. It’s a heartbreaking disease. Children diagnosed with it have a life expectancy of about five years,” said Carol Gorman, Maebhe’s aunt, speaking on behalf of the family.
“Children usually aren’t diagnosed with it until they’re 18 months or two years old. Maebhe was a Covid baby. The family moved to Woodlawn after she was born, and she was missing milestones. She crawled late and wasn’t talking, just making sounds.
“They say that a baby should have five words by 18 months, but that wasn’t the case with Maebhe. She stopped developing at nine months old.
“It was the worst-case scenario. There’s been a huge progression in the disease with Maebhe. You end up in a comatose state. It’s like Alzheimer’s and Motor Neurone Disease (MND) in a baby.”
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