The family of an Irish toddler who has a rare terminal disease have spoken out as they say their child 'could have been saved' if it was discovered through a simple heel prick at birth.
Eight months ago Maebhe Gorman was just a normal little toddler, bright-eyed with wonder at the world around her and eager to play with her big sister, Tina, singing songs and running around.
However, approaching her second birthday last September the little girl’s parents John and Veronica had to bring her to the doctor as they began to notice she was missing some developmental milestones.
Speaking to RollerCoaster, Maebhe’s aunt Carol said the family could never have prepared themselves for the diagnosis they were to receive. ‘What happened initially was 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 before we noticed it.’
The family brought Maebhe to a physiotherapist in Galway who assured them he would have her walking within the year. However, following blood tests at the GP towards the end of October last year, Maebhe was referred to a specialist team at Temple Street Hospital.
Carol explained: ‘Two weeks later, they were called into the doctor’s office and they were told she had MLD, and none of us had heard of it before.’
The condition’s full name is metachromatic leukodystrophy. It is a rare inherited disorder affecting 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 explained. ‘We all are born with it and children with MLD don’t have it. Once they’re inside their mother’s womb, they’re fine. But once they come out of the womb, the body doesn’t produce it.’
While they are heartbroken to hear the diagnosis, there was one thing that has upset them more than anything else. Carol said: ‘This disease is treatable if it is caught at birth. Maebhe could have been saved. It is such an injustice for any little baby.’
Once symptoms present, it’s too late to treat MLD. The younger the patient with symptoms, the more aggressive their condition is. However, the condition is preventable through a stem cell treatment.
‘It’s called Lenmeldy. It’s very expensive but it stops it in its tracks,’ Carol said. ‘It encourages the body to produce this enzyme that it doesn’t produce naturally.’
Unfortunately for the Gormans, they were told that Maebhe’s illness was too far advanced for her to undergo this life-saving treatment and the best that they could hope for was three years with their darling little girl.
‘The terrifying thing is, there are children in Ireland walking around with MLD. And no one knows. They don’t know. They have no idea. I mean, it can hit you after the age of 15,’ Carol said.
The family cannot accept that Maebhe’s life will be cut short because this condition isn’t routinely tested for. ‘How would they feel if it was like a relative of theirs?’ she said, angrily. ‘Would they feel that that child was worth it? It is heartbreaking.’
Devastated Carol recalls how rapidly this condition has taken hold of her niece. ‘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 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, within the last few months, Maebhe is almost unrecognisable to her devoted family. ‘Now she’s in her cot and is medicated so heavily that she’s rarely conscious and she has lost the ability to do everything.
‘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.
'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.’
Maebhe is now suffering bed sores and her family can no longer pick her up for hugs as she cries.
Devastatingly, her family has now received the news that Maebhe’s bowels are slowly giving up. ‘They are not absorbing nutrition from her food in any meaningful way.’ Carol said; fearful that the family may lose their cherished little girl soon.
Maebhe’s parents John and Veronica also have another little girl Tina, who is four, and they are struggling to make sure she is getting everything she needs to thrive too.
‘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.’
In an effort to help the family deal with Maebhe’s complex needs, Carol has set up a GoFundMe. However, more than raising money, they hope that their story will encourage a change in how MLD is treated in Ireland.
In Maebhe’s name, they have started a campaign calling for all children born here to be routinely tested for MLD. ‘We don’t want Maebhe to die in vain. If she could save two children a year…’ she said, trailing off.
‘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, that she went on to save two children a year.’ she said.
*This article was originally published on Evoke.ie.
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