Carol spoke to Katie Hannon on Liveline about her niece, Maebhe Gorman, who's 2 years old. When she was born, Carol says, she was healthy and she was the most beautiful baby you’ve ever seen. In the first few weeks and months after Maebhe was born, she seemed like a very happy baby, always delighted to see people and she never cried:
"I never heard her cry. I mean, every baby cries, but Maebhe never cried. And we didn't think that was strange and I still don’t think that was strange. She was just such a happy little baby. I wish I could paint a picture of her with my words, but I would never do her justice. She was the embodiment of love, she loved everybody."
Maebhe’s mum is Brazilian, which means Maebhe and her 4-year-old sister are growing up in a bilingual household. This usually means a delay in speech and language compared to a child growing up in a monolingual household, so when your child is slow to speak, it doesn’t immediately set alarm bells ringing.
"So Maebhe wasn’t speaking. She was making lots of sounds, she was saying words, but at 18 months they expect them to have 20 words, and Maebhe certainly didn’t have that."
Another, less explicable sign that Maebhe wasn’t developing as expected was the fact that, not only was she not walking, but her foot had started to turn in. The family thought callipers would sort the foot out and a physio saw Maebhe and told them that she’d be walking within a year. Unfortunately, the family’s relief didn’t last long. A doctor referred Maebhe to Temple Street Hospital in Dublin where they took some bloods:
"And on the 23 November last year they diagnosed her with a condition called MLD [Metachromatic leukodystrophy] and it is terminal."
Maebhe’s parents live in Galway and, immediately after receiving the diagnosis from Temple Street, they had to drive home. On the way they called into Carol:
"And I’ve never seen two people so broken. However, the journey since then has been the most devastating thing, the most traumatic situation. Like, I cannot imagine how Veronica and John get up every day and continue with life. I’m her auntie and I’m devastated to watch her slip away."
Carol is in awe, she says, of the strength that Maebhe’s parents find to deal with the unthinkable. And in November, the month they got her diagnosis, Maebhe was still crawling around, learning words and singing songs and she had a very healthy appetite.
"And to see her now, less than 8 months later, and she’s lying in a bed and there’s just no life left in her. She’s paralysed from the neck down. She’s on really heavy-duty medication. I don’t think – she certainly doesn’t recognise me anymore."
In 8 short months, Maebhe has gone from getting around the house to lying all day in a bed and her parents have been told to lift her and move her around so that she doesn’t get bed sores. And Carol worries that Maebhe’s sister Tina, who has to watch her little sister dying in front of her, will be hugely affected by the devastating journey the family has had to go on.
"Tina is 4. Other families with terminally ill children will know what I’m talking about. It is a big trauma for children to watch a sibling die."
The reason that Carol got in touch with Liveline is that there is a treatment for MLD, but it needs to be administered before the symptoms start showing. Which means that if every child was tested at birth for MLD, the treatment could be administered to affected children well in advance of their symptoms showing.
Currently, the only children who are tested at birth for MLD are the younger siblings of children who have already been diagnosed with the disease. So, in effect, the older child has to die in order for the younger child to get tested and start treatment. It’s a chilling notion, but a very real one for some unfortunate families. And Carol and her family want Ireland to include a test for MLD in the heel-prick test that every newborn in the country gets, in order to make sure those children who do have MLD get the treatment they need in time. And although the HSE provided Liveline with a statement to say that they are considering including MLD in the list of illnesses tested for in newborns, Carol doesn’t think that’s enough:
"I’m delighted to know that they are considering it, but I don’t think it should be a consideration at this point. I mean, how many children are going to have to die with MLD before they actually just implement it?"
You can hear Katie’s full conversation with Carol by clicking above.