Lorraine Desmond on raising children with CFC: 'I couldn't have predicted the joy my two boys would bring'
December 13 — the day our two- and three-year-old sons Alex and Rian were diagnosed with CFC (cardiofaciocutaneous) syndrome.
I'd heard of CFC. The boys had been very unwell babies, with lots of feeding and growth issues. When you put symptoms into Google it throws back a selection of possibilities.
When you're focused on a topic, talk to other parents with similar issues, people come into your life, other mums, American mums especially. They'd have said different syndromes so I'd heard of CFC, but I didn't expect it.
Professor Green took bloods. He took photos of the boys. He pointed out differences in their hands. I thought: 'Even their hands are different' — their little hands that were perfect to us were a feature of this syndrome. He said, based on their features, hands, and head shape, they had CFC.
He was 110% certain, but there had never been two in the one family before. The expectation would be for just one in a family, unless either parent had it — we didn't. That's why he took bloods.
CFC is part of a family of syndromes. Another example is Noonan Syndrome, which is lower on the scale of disability. I was disappointed to hear CFC. Although the boys were so young, they weren't where they should be. I knew now there was no hope they'd get to where they should be because there'd be an intellectual disability.
Of course, we'd had our suspicions, but you don't ever want those suspicions confirmed. Because then it's true, it's real life. Until the point of confirmation, you feel you can make it better. So you sit in this moment and you feel, OK, this is it now — you feel there's a full stop, a full stop for hope, that you can make it better.
You're starting the next paragraph then, figuratively. Two children with a rare disease... The statistics for CFC syndrome are 1 in 810,000. The odds increase dramatically for having two.
Lorraine Desmond with her boys Alex and Rian. Picture: Dan Linehan
We're the only family in the world with two children with CFC where neither parent has it.
We knew then what we were dealing with; there were no more unknowns. It was time to get moving and make them the best they could be. The boys had no speech at this point; Rian was tube-fed, Alex was eating but very limited. They were failing to thrive, not meeting milestones.
As a three-year-old Alex had lots of behavioural challenges, banging his head, hurting his brother because he couldn't tell us what was wrong. Rian's issues were more medical, including not sleeping. It was the same syndrome, different presentations. Those early years were so difficult, we wouldn't go back for all the tea in China.
They attend Our Lady of Good Counsel Special School in Ballincollig. Once they got the support of a multidisciplinary team and amazing SNAs they started being able to talk, communicate their needs and wants, which reduced the behaviour difficulties.
I remember the day Alex came home from school, looking for a biscuit in the cupboard. Before, he'd have had a tantrum because of not being able to make himself understood.
Now he was able to make the sound and the Lámh sign for biscuit — it was incredible! You knew then there was hope — more speech would come, more sounds. It was the first glimpse there was something coming.
Lorraine Desmond. Picture Dan Linehan
Their fine and gross motor skills improved; they were able to put on their coats; feed themselves. I remember Rian sitting up in his high chair, a tiny little fellow, saying 'I do it' — he wanted to feed himself his own breakfast. For me not to have to feed him, that was a really emotional moment. They started to make friends. Their community was expanding, but so was ours.
Alex today knows his own mind. We call him the detective. He asks question after question. If he meets someone, he'll have a good interpretation of them in five questions. Rian is equally social. He loves people and is really in tune with people's feelings.
Looking back, that day of diagnosis was a positive moment, though we didn't think so then. It gave us an answer, helped us move forward. There was no more wondering.
I couldn't have predicted then the level of joy they'd bring everybody around them. They joined the Marvel Club recently. People have been offering to host them in their homes for playdates — people seek out their company.
We go through moments of grief. I'd always thought you grieve when they're diagnosed. But as they get older, there are still milestones, like Alex leaving school next year. There's grief that he won't be going to college like his older sister. There's anxiety — what happens when we get older; when they do? And guilt. Are we doing enough?
But the joy... It's not that 'they're so cute'. No, they're really difficult; it's seeing people's interactions with them that makes us so happy. We're really proud they're out in the community and are liked by people.
Our Lady of Good Counsel Special School, Ballincollig, is fundraising for a garden room, with a €41,000 target. The 'Bikers, Buns and Blooms 2025' motorbike run with family fun is this Sunday, May 25, at the school. The motorbike rally is run by Na Préacháin MCC. See: Our Lady of Good Counsel School on Facebook. Donate at Our Lady of Good Counsel at payzone.ie.
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