THE FAMILY OF a two-year-old girl who died from a rare genetic disease have called on the HSE to facilitate earlier diagnoses by screening newborns.

Maebhe Gorman was a happy toddler who loved her family and playing with her dogs.

She died of metachromatic leukodystrophy (MLD) on 5 August, just a month shy of her third birthday.

MLD is an inherited disorder affecting mainly the ‘white matter’ of the brain, causing a progressive loss of physical and, later, mental skills.

“We had heard that it was a terminal illness. We had heard that we’d have her until five, maybe four,” her aunt Carol told The Journal.

“We knew that she was going to get very ill, but we didn’t think it would be so aggressive.

“We didn’t even get one year with her after diagnosis.”

Maebhe’s family are among those calling for the heel prick test, or newborn bloodspot screening, to include a test for MLD. 

It affects an estimated 1 in 40,000 to 160,000 people, and about one or two children in Ireland every year are treated for it. Early diagnosis can save lives.

Carol says Maebhe’s personality shone through her pain. 

“Maebhe was genuinely just always happy … when she’d laugh, it sounded like music.

“It was just an inexplicable joy to be around her.

“There aren’t enough words to describe our little Maebhe. She was just perfection.”

Her older sister Tina turns five next week. “She’s just full of questions and we don’t have the answers for her,” said Carol.

MLD is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.

The parents of people with MLD each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Seven members of Maebhe’s family paid out of pocket to check if they are carriers of the gene. 

It cost €780 per person to have the test done privately.

Italy, one of the countries “streets ahead” of Ireland on MLD diagnosis and treatment, uses the heel prick test to screen for more than 40 conditions, while Ireland tests for just nine.

In a statement, the Department of Health said the National Newborn Bloodspot Screening (NBS) programme “continues to remain a priority” for the minister.

“Significant progress continues to be made on the expansion of newborn screening under this Government,” a spokesperson said.

“In 2023 the Minister for Health endorsed two recommendations from the National Screening Advisory Committee on the addition of Spinal Muscular Atrophy (SMA) and Severe Combined Immunodeficiency (SCID) to the NBS programme.”

MLD is to be “carefully considered” by the Committee as another condition to test for in newborns.

However, the Department said that there is currently “no commercially validated test for MLD which would enable the rollout of a population-based screening programme for the condition”.