“I went from not even knowing about CF to finding out I’m a carrier and that I’d passed it on to Ava - there’s been a lot to learn” Mum Carley shares Ava’s story

Ava and her diagnosis

Ava is now two and very confident, very bubbly, and very independent. She’s my third girl- my last baby- so it was a massive shock when we got her diagnosis. Ava is so resilient, I think everyone with CF is and probably has to be. She’s a really fun child who loves life.

We found out about her CF via the heel prick test. I received a phone call from our local health advisor shortly after she was born and they asked me if her dad was around and at that point I realised that there was something more serious going on here. The first thing I did was Google newborn screenings and what they actually check for, and the search showed about nine different very rare health conditions. I told Ava’s dad and he said straight away ‘it’s cystic fibrosis’, and I didn’t even know what that was. Within 2 hours I had the health visitor and a nurse from the Royal Brompton over, and they were delivering the news that it was highly suspected that it was CF and we had to go to the hospital the next day for genetic testing and the sweat test. Honestly my world just came crashing down. It was something that I’ve never experienced before, and I probably will never experience ever again. It was a massive shock to us.

The initial stages and adjustments

I felt really overwhelmed in the beginning because as soon as we got the diagnosis it dawned on me that I was going to be a different mum to what I had been, and there were going to be different expectations and a different level of care. Obviously, you care for your children, but this was pretty much life or death. We have a baby that’s not well and we need to keep her as well as possible. I had no clue what CF was, so to then be told my child has it was very daunting and scary. The main thing that stood out to me was when we went for Ava’s first appointment and the doctor said to me, let’s get started with Creon. At first I thought, well what is Creon? And then I quite innocently turned to the nurse and asked her ‘how long will she have to take this for?’, and she looked at me and said, ‘for life’. So that’s how naive I was to the whole thing, I had no clue. But you have to get on with it and learn and deal with it and it just becomes part of your daily life, which is how it is now.

Kaftrio

Ava’s not on Kaftrio yet, she’s eligible, but at the moment she’s on Orkambi. We’re expecting the licence for 2 year olds by the end of the year, and I can’t even describe how that feels. Its indescribable because when Ava’s dad and I spoke to her nurse and asked her quite brutally about life expectancy, she said that we’re given a guide of 40 years, and that broke my heart. I burst into tears, and she went on to talk about Kaftrio. At the time we didn’t know about the gene mutations but we feel very lucky that she does have those mutations. There’s always a worry that some people are eligible to take it but don’t get on well with it. I’ve heard there can be some severe side effects in some people, because it’s such a new drug, but overall, I can’t even believe that there’s something that’s so close to a cure that she can take. The feedback that I hear in the community from the adults and the children that are on it, have me hyped.

Starting an Instagram and spreading awareness

I don’t even know what possessed me to do it, but the night we had the nurse over, I kind of just sat on my phone all night and I was reading so much about CF, Googling everything about it. I searched for hashtags on Instagram and I was coming across countless posts, and I realised there’s actually a whole community out there. I couldn’t really express how I felt verbally to anybody, I just had so much to say so I thought I would try and document this. I knew it was going to be a hell of a journey and a lifetime of it as well. So, I set up my instagram and it was amazing to actually follow so many others with CF and learn from them as well.  Everybody that’s spoken to me has told me that they have learned so much from following Ava’s journey. I like to spread awareness, and all of us in the family try to do it in whatever way possible. Like Ava’s dad, ran the London marathon to fundraise for the Trust; he’s not a runner, he pushed through for Ava. Her Nan also did a skydive even though she hates heights, so we do what we can.

Advice for new parents

I would say go easy on yourself even though it’s very hard not to at the time. I felt extreme guilt and I was thinking what have I done? How have I done this to my baby? I went from not even knowing about CF to finding out that I’m a carrier and have passed it on to Ava. There’s been a lot to learn but you just have to take it day by day. Don’t put too much pressure on yourself because you will get there. It takes time but you will come out the other end, there’s light at the end of the tunnel. Just go easy on yourself because it’s so easy to get caught up in the moment and fall into that big hole of darkness.

Hopes for the future

I hope that Ava is well and can benefit from Kaftrio when she’s eligible to take it and live a long and healthy life on it. Also importantly, that the 10% who cannot currently benefit from Kaftrio are provided with an alternative and that modulators are continually developed so that they can be tolerated by all. That’s the goal. We also need global access as it’s a country lottery and it really shouldn’t be that way. 

I did ask the nurse at diagnosis actually, what kind of life will Ava have? And she said to me she’ll have children, she’ll get married and she’ll do everything that everybody else does. So that is what I want for her - a normal and long life. I’m determined to make precious memories with our family and celebrate every single milestone for Ava. 

Cystic fibrosis (CF) is a genetic condition which causes sticky mucus to build up in the lungs and digestive system. It affects more than 10,800 people in the UK. One in 25 of us carries the faulty gene that causes it, usually without knowing.

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