The devastated family of a young Galway girl diagnosed with a rare disease have called for the introduction of a heel prick test to be made routine as their daughter’s condition becomes too advanced to treat.
Just before her second birthday last year, Meabhe Gorman’s parents noticed that the youngster was missing developmental milestones, prompting a visit to their doctor.
However, the news that the family were met with was something that they could have never prepared themselves for.
Speaking to Rollercoaster, the two-year-old’s aunt Carol explained how the family started to notice that something was wrong with their beloved daughter.
‘What happened initially was that her foot started to turn under like her toe started to turn under her foot. It was very strange, and she was probably about 15 months old before we noticed it,’ she said.
Meabhe was brought to a physiotherapist in Co Galway who assured her mum and dad that she would be walking within a year, but blood tests at the GP towards the end of October 2023 saw the tot referred to a specialist team at Temple Street Children’s Hospital in Dublin.
‘Two weeks later, they were called into the doctor’s office, and they were told that she had MLD, and none of us had heard of it before,’ explained the two-year-old’s aunt.
MLD, or Metachromatic Leukodystrophy, is a rare inherited condition that affects mainly the ‘white matter’ of the brain that causes the progressive loss of physical and mental skills.
‘What happens is there’s an enzyme that she is missing that eats the plaque of particular parts of the brain,’ Carol said. ‘We are all born with it, and children with MLD don’t have it. Once they’re inside their mother’s womb, the body doesn’t produce it.’
Despite being utterly heartbroken over the diagnosis, there is one other thing that has caused the most upset of all.
‘The disease is treatable if it is caught at birth. Meabhe could have been saved. It is such an injustice for any little baby,’ Carol said.
Unfortunately, once MLD symptoms present, it is too late to begin treatment of the degenerative disease, and the younger the child, the more aggressive their condition can be.
However, the condition is preventable via stem cell treatment.
‘It’s called Lenmeldy. It’s very expensive, but it stops it in its tracks,’ explained Carol. ‘It encourages the body to produce this enzyme that it doesn’t produce naturally.’
The Gorman family have since been told that Meabhe’s treatment is far too advanced for her to undergo this ‘life-saving’ treatment and that the best they should expect is three years with their daughter.
‘The terrifying thing is that there are children in Ireland walking around with MLD, and no one knows,’ said Carol. ‘They don’t know. They have no idea. I mean, it can hit you after the age of 15.’
The family are refusing to accept that Meabhe’s life will be cut short due to a condition that isn’t routinely tested for.
‘How would they feel if it was like a relative of theirs?’ she said. ‘Would they feel that that child was worth it? It is heartbreaking.’
Carol recalled just how rapidly the condition had taken control of her niece’s body.
‘Last November, she was still learning new things, So she’d try and say words—it’s not like she’s a massive vocabulary, but if you’re doing a tune, she tried to sing along, and, you know she was still doing lots of little things that you’d expect a baby just gone two to be doing.
‘She was still trying to walk. She was still playing games, very engaged with everybody around her.’
However in the last few months, her loving family can barely recognise Maebhe. At present, she is currently in her cot, so heavily medicated that she is hardly conscious and has lost all ability to function.
‘The only time her body moves now is through spasms. She’s paralysed from the neck down. She does still move her head, but we don’t know how much sight she has. We believe she can still hear.
‘So she has gone from being a very active child eight months ago to a child who is in a cot, and it’s really sad. She loved to be held. She’d love for you to brush her hair—and I’m not talking that long ago; I’m talking three weeks ago,’ Carol told Rollercoaster.
Maebhe is now suffering from bed sores, with her family no longer able to pick her up for hugs as she cries.
In another devastating turn of events, the family have revealed that the tot’s bowels are starting to give up.
‘They are not absorbing nutrition from her food in any meaningful way,’ said Carol, who is fearful that the family may lose their cherished daughter soon.
John and Veronica, Meabhe’s mum and dad, are also raising Tina, their four-year-old daughter and Meabhe’s big sister and they are finding it difficult to ensure she is getting everything that she needs.
‘She’s certainly not getting a normal childhood like a four-year-old should have,’ Carol said. ‘The baby is back in hospital. She’s like, “I don’t know if Mommy is going to be home today or tomorrow. I don’t know if Maebhe is going to be home today or tomorrow.”
‘She’s watching her little sister die. She doesn’t have this normal childhood, and I worry for how that’s going to impact her development, I suppose, and her memories of childhood and stuff.’
Carol has set up a GoFundMe to assist the family in meeting Maebhe’s complex needs. More than just collecting funds, they hope that their narrative will inspire a shift in the way MLD is viewed in Ireland.
They have launched a campaign in Maebhe’s honour, demanding that all children born in this country undergo routine MLD testing. ‘We don’t want Maebhe to die in vain.’ She said. ‘If she could save two children a year.’
‘It’s not that her death’s going to be easier. It’s not going to make our lives better.’
‘But it’d be good to know that because of her living for such a tiny little period, she went on to save two children a year.’ she said.
