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“A life unlimited means to love and be loved”: CF parents Emma and Mason share their story
A bundle of energy
The best way to describe Noah is a walking bundle of energy. He’s always bouncing off the walls, running, singing, playing… he never stops moving and he’s got a very big personality. I don’t think he’d even know the meaning of shy!
He absolutely adores all things trains; we regularly must watch trains go past at a level crossing. He loves singing nursery rhymes, making up his own songs and pretending to bake cakes in his play kitchen.
The road to diagnosis
When Noah was born in 2020, his CF was missed on his blood spot screening, and we were told after two screenings that he was just a carrier of CF. They had only identified his common mutation, so for a brief time between the first blood spot screening and the repeat one, we were concerned that they'd check it again and find two mutations. But those concerns disappeared when they told us he was just a carrier.
We went on with life as normal with our healthy baby. But when he turned one, Noah started developing symptoms like wet coughs, recurrent chest infections and laboured breathing, but doctors never really did anything about it or raised concerns.
Fast forward to the end of 2022, we found out we were pregnant with our daughter, and we decided to have blood tests done ourselves with a genetics team to see if it was just one or both of us with mutations, so we knew what our daughter’s chances of having CF were.
We found out that I have a common mutation and their dad Mason has a rare mutation. When our daughter was born it was confirmed she had both mutations. She had her first sweat test result which was 60 and this led to a CFSPID diagnosis.
A month down the line, the CF team decided to have our son’s blood spot test re-examined and it revealed that he did in fact have the rare mutation but it had been missed the first two times. His sweat test result was 93 resulting in an official diagnosis of cystic fibrosis at three years old. The events leading up to his diagnosis obviously meant that I knew Noah having CF was a possibility, but when we officially got his diagnosis, I felt shocked; like I didn’t think it would actually happen.
We are now about five months down the line from the official diagnosis. We are quite lucky in that Noah’s symptoms aren’t too bad so far, so the effect on our day to day lives has only minimally changed. We do physio multiple times a day, his medications throughout the day and attend regular hospital appointments, but these are all things I’m used to as I work as a carer and these tasks aren’t unfamiliar to me.
This is our journey
Before having this happen to our family, we never knew it was possible to get a diagnosis this long after birth and it came as a big shock to us. At first I felt like an imposter when I told people that our son has cystic fibrosis because it felt alien and bizarre, but we have now accepted and embraced this as our journey.
One thing that really helped me is researching and understanding very early on that the treatment and management of CF has come a long, long way. I cannot change any of what has happened to us; it is out of my control, and I just need to do the best that I can for him.
A life unlimited to us means to love and be loved, to do what you enjoy, and to have the same opportunities as everyone else.
Cystic fibrosis (CF) is a genetic condition which causes sticky mucus to build up in the lungs and digestive system. It affects more than 11, 148 people in the UK. One in 25 of us carries the faulty gene that causes it, usually without knowing.
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