We worry for the future after our little boy was diagnosed with rare new disease – every little milestone is celebrated
A DOTING dad has said he will “run around my estate with my t-shirt over my head” when his four-year-old son finally walks.
Ross McCarthy said his son Cian was “a little boy like everyone else’s when we took him home from hospital” — but at around six months, he started missing milestones.
At the time, the pandemic was impacting his medical appointments so he and his wife Caitriona took him to a VHI Clinic where he was assessed and referred to a consultant.
Tests confirmed he has NARS1, a disease that was only recognised in the medical community three years ago.
Ross said: “Luckily for us in some ways, a fantastic researcher called Stephanie Efthymiou, in London, had discovered NARS1 as part of her PhD and she published the paper on it only in 2021. So it’s this brand new disease.”
He added: “As you can imagine, all of this is overwhelming. You find out your son has this genetic condition, there isn’t really any cure for it, he’s the only child in the country with it. And it turns out he’s one of a maximum of 50 people in the world with it.
“I remember one of the consultants saying to me, ‘Ross you work in IT. Cian’s program is just written differently to everybody else’s’.”
Cian is now four and a half and in his second year of pre-school.
His mum said: “He loves it, he’s a really sociable little boy. He doesn’t have language but I honestly would say he can make better connections with people than people who do have language.
“We’ll be down in Tesco and he’ll be going around on his Kaye Walker and he’ll be high-fiving and waving to everyone. He puts a smile on everyone’s face.
Most read in Health
“And he has great friends in pre-school. It’s not a barrier for him, he makes great friends, goes to all the birthday parties and has a great time.”
Ross said his son “sees the world a little different to the rest of us” and is constantly happy.
He added: “For us as parents all we want is him to be happy and meet his potential, and he’s doing that.
“We’re four and a half years waiting for Cian to walk. So while most people say they’ve a child that rolls, crawls and walks, we have a child that crawls and now he is able to pull (himself up) to stand. Every milestone is actually broken down into 10 and you celebrate each single one of those.
'Ball crazy'
“We live in a great estate, there’s a big green in front of us with houses all around. And I’ve said to the neighbours, if you ever see me running round it with my shirt over my head, you know Cian has walked. He’s ball crazy, loves kicking and throwing them, and only the other day we were in Tesco, I was over at the shelf and normally he can just say ‘baw’ but this day he said ‘ball’. I nearly fell over.”
For Ross and Caitriona, Cian’s diagnosis began a “tough, lonely journey”.
They had no-one in their life who had a child with complex needs to turn to, but then found an American website, the Rory Belle Foundation, dedicated to NARS1.
Rachel Heilmann, Rory’s mum, co-founded it in memory of her daughter who died in 2021 when she was just over a year old. The Foundation is leading the drive for a cure.
WHAT IS NARS1
THE Nars1 condition refers to the gene that is mutated and does not allow the body to make working proteins that are necessary.
The disorder primarily affects the nervous system and signs usually appear around six months of age.
According to the Rory Belle Foundation, kids can have a number of different symptoms, from a small head, seizures, trouble walking alone, inability to talk or eat, and muscle spasms.
Ross said: “It’s totally flipped our perspective in that there could be a cure out there. The kind of cure for Cian is gene therapy, very similar to someone who was on the news (recently) with the world’s most expensive medicine given to his son. It’s the same sort of idea for Cian.”
He added: “Like any parent when your child is born you immediately go to ‘when he is older we’ll be out in the shed making stuff’. Or ‘when he’s grown up, which college will he go to?’ And then you get this. So now you think in weeks and months and maybe a couple of years ahead.
“We’re positive but there’s lots of sleepless nights and a huge amount of worry about the future.”
'Amazing future'
The couple have another child, a daughter, Aoibhinn, who has already overtaken Cian in milestones but they try to see the positives for each child.
And he said the family is hoping with advances in technology and AI “there’s an amazing future in which the tools they have available never existed before”.
READ MORE SUN STORIES
Cian is now part of the I Am Number Seventeen rare disease campaign, which highlights that one in 17 people in Ireland will be affected by a rare disease at some point in their lives.
He is one of the faces of an exhibition of photography at Dublin’s CHQ to highlight the campaign.
