This week the five-strong Martin family – mum and dad Lynda and Les, and kids Holly, Cathal, and Ciaran – are putting together the final arrangements for a hastily cobbled together trip to Milan.
Sadly, not everyone will be going. Firstly, this is anything but a holiday. Rather it’s so Ciaran, the youngest of the bunch having just celebrated his first birthday, can receive potentially life-saving treatment for metachromatic leukodystrophy (MLD), a rare, deadly genetic disorder.
That and Cathal cannot travel: he is dying of the same disease. His diagnosis was made less than three months ago and already the almost-three year old is starting to fade.
“He should have become a man; he would have been a great man,” says his visibly-shaken dad, Les, while cradling a content but nevertheless seriously-ill Cathal.
“But maybe – tragically and wrong as it is – this is Cathal’s legacy; to save his younger brother’s life.”
It’s a harrowing prospect – but Lynda and Les have no choice but to weather what she describes as “every parent’s worst nightmare”.
Ciaran’s own chances of survival are “around 50-50,” says Les. “Ideally we would have had his diagnosis a few months earlier to really maximise the effectiveness of the treatment, but we’re hopeful.”
The treatment in Milan is still very new and certainly, it won’t be easy: bone marrow transplants, genetic engineering, chemotherapy, and recovery in full isolation. Without it, however, Ciaran – who is displaying very early signs of MLD – will die.
The Martin family are young, hard-working, and “ordinary” in the best possible way – in a way that tens of thousands of other families around Ireland are.
They live in an attractive bungalow on the outskirts of Wicklow Town. Their home is welcoming and busy – as you would expect it to be with three young kids under the age of five living there.
Toys are plentiful; there are a couple of goldfish in a large tank in the living room, and Cathal’s wheelchairs, by now a necessity, are in the kitchen and hallway.
Before Cathal’s crushing diagnosis, Les worked as an engineer, while Lynda was a nurse. They’ve both since had to give up their jobs to care for their children full-time.
“Cathal was born in May 2014,” explains Lynda while holding on lovingly to Ciaran – a typically boisterous, gorgeous one-year-old.
“He was perfect and healthy and we had no concerns about him reaching his milestones or anything like that.
“That changed a little after his first birthday when we started to notice that he was having trouble walking, and I suppose that was the beginning,” she adds.
Unbeknown at the time, MLD, which Cathal and Ciaran were born with but daughter Holly is thankfully free from, had begun to take hold.
Over the course of some 18 months, GP referrals were made; medical advice sought and given; specialists were consulted, and then – finally – the Martins received the devastating news at Tallaght hospital last December.
“I knew it was something serious,” continues Lynda. “In the end a bout of tonsillitis brought forward Cathal’s diagnosis – he was sick and not getting better. So there were a lot of tests and the likes of MRI scans.
“But even as a nurse I had never heard of MLD until that moment – I knew nothing about it.”
Late Infantile MLD is characterised by normal development during the first six to 18 months followed by a progressive regression in motor skills: never learning to walk, or showing a deterioration of balance.
The regression next affects speech, overall mobility, and basic cognitive skills.
Cathal’s muscles are so weak, for example, that he cannot chew or swallow. Last week he had a nasogastric tube fitted to help with feeding.
“He was just starting to speak – and then MLD began to take effect – so he’s lost all but one or two words now,” says Lynda. Her husband adds: “Nothing is clear-cut, but Cathal will probably become comatose towards the end.”
The condition affects just one in 40,000 people and although there is no dedicated awareness group in Ireland, the Martins have found support in bucket-loads from the Laura Lynn, Jack & Jill, and Enable Ireland charities.
They are now tirelessly fundraising for Ciaran’s six-month stint in Italy, which comes with significant expenses – expenses they estimate will run to around €250,000.
“I will stay for two weeks with Ciaran, and then come home to Holly and Cathal while Les flies over to Italy. That’s what we’ll keep doing for the duration of Ciaran’s treatment,” explains Lynda of the gruelling immediate future her family faces.
And throughout their ordeal, four-year old Holly, the eldest of her siblings, has been resilient.
“Holly used to run around after Cathal. But now she obviously can’t. She runs after Ciaran instead,” says Les.
“She’s upbeat and happy like many four-year-olds are, but the reality is she may lose both of her brothers – her only siblings. It’s heartbreaking for her too.”
“The time we’ve had as a family of five is so precious,” says Lynda. “And I so wish we had a bit more of it.
“We know this week could be represent our final days together – simply because we don’t know how long Cathal has left.
“But we will do everything we can to ensure Cathal is happy and comfortable for as long as we have with him. And we will fight for Ciaran so that he can have a future.”
“Our boys – brothers – will be parted this week when Lynda and I bring Ciaran to Italy,” adds Les.
“And I just hope they get to see each other again.”