The family of a two-year-old girl who died from a rare genetic disorder wants the disease screened at birth as part of the heel prick test.
Maebhe Gorman was diagnosed with a life-limiting genetic disease known as Metachromatic Leukodystrophy (MLD) a year ago. She passed away last Monday.
Her family are calling for the condition to be screened for in Ireland as part of a heel prick test which screens for nine serious conditions.
The heel prick test is offered to all newborn babies usually when they are between three and five days old.
Maeve's aunt Carol Gorman told Lunchtime Live what MLD meant for her niece.
"Maebhe had a condition called MLD and bascically there's a white matter on the brain that we all have but we all produce an enzyme that cleans it," she said.
"Maebhe's little body didn't produce the enzyme which means this white matter just covered her brain and killed off the functions of her brain".
Ms Gorman said Maebhe initially had a condition called dystonia, which resulted in severe muscle spasms, but the family didn't realise what was happening.
"She had a finger that pointed out constantly and we thought 'Gosh that's so adorable the way she's always pointing' but actually it was dystonia and we never realised," she said.
"Dystonia is really, really painful for children with MLD.
"They are treated for dystonia, they are given a prescription and they are given something to relax the muscles.
"Unfortunately it does twist their little muscles and they are left permanently in that position".
Maebhe Gorman with her parents Veronica and John and sister Tina. Image: SuppliedMs Gorman said MLD affects children mentally as well as physically.
"We watched Maebhe go backwards from last November when she was diagnosed," she said.
"It was like she was a two-year-old last November and when she passed away last week it was like she was a newborn.
"Every muscle in their body stops working; the muscles that you can see on the outside is happening on the inside too.
"Even to cough, she couldn't cough anymore so there was lots of secretions.
"Her heart never stopped working right up until the end, it was her strongest muscle.
"It's such a good description of Maebhe; Maebhe was all heart, it was the last muscle to go".
Maebhe Gorman. Image: SuppliedMs Gorman said both parents have to be carriers to pass it to their child.
"It's a horrendous disease to watch progress," she said.
"It ravages the body and imagine watching that on a two-year-old?
"Nobody else in the family has MLD but both parents have to be carriers so it is a genetic disorder.
"There's a 25% chance that you'll have a child with MLD if you're both carriers".
Ms Gorman said Maebhe wasn't diagnosed until November 2023 and she seemed "perfect" except for the muscle spasms.
"We want this included in a heel prick test, the newborn screening test that they do," she said.
"In Ireland they test for nine diseases and in Italy they test for 48.
"We want this tested in Ireland at birth because if it caught at birth it is treated with a drug called libmeldy".
'She cried so much'
Ms Gorman said there was no let-up in Maebhe's condition.
"Maebhe was diagnosed on the 6th of November 2023 and we were told at that stage that we would have possibly up until the age of five," she said.
"There was this added caveat to treat every Christmas as her last.
"We knew that the disease would progress but [that] it would plateau - this is what had happened so far.
"However Meabh had it on two genes... so we don't know if that's what progressed the disease so aggressively."
Maebhe Gorman. Image: SuppliedMs Gorman said her niece was 'ravaged' by the condition.
"She never plateaued; six weeks after diagnosis she started to fail and she started to fail fast," she said.
"Her little body was ravaged with the disease, she was in pain constantly from April.
"She never cried as a baby and she cried so much in her final few months.
"It was horrendous to watch her like that.
"She passed away on the 5th of August - we didn't even get nine months [from the date of diagnosis] with her.
"I don't know how we're ever going to come to terms with this."
Ms Gorman added that children with MLD "can be saved" by a heel prick test.
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