Joanna's story: "I think the greatest gift for the cystic fibrosis community would be that everybody can access life-changing treatments"
Can you tell us a bit about your introduction to CF?
I have four children; twins first, and all was well. When I had my third child, it was discovered through the heel prick test that they had cystic fibrosis. The twins were tested, and one of them was discovered to have the same gene. So, within six months I had two diagnoses. Our fourth child is a carrier.
Receiving the diagnoses was a massive shock. I didn't know a lot about the condition, so I had to learn a lot very quickly. One thing I do remember is the doctors telling us that there was a lot of misinformation about CF out there, so to go straight to Cystic Fibrosis Trust for credible information. The six months following the diagnoses were a bit of a roller coaster of genetics, chest physio and medications, but gradually it became part of our daily life.
Delivering chest physio to an infant child who's only a month old is incredibly traumatic. There’s this small mask over his mouth and nose, and we had to try and expel lots of mucus; it was really traumatic for everybody, but we got into a groove eventually. The little one would fall asleep during chest physio, so I assumed it was going okay if he felt soothed enough to sleep.
What's it like having two children with CF? There's obviously risks of cross-infections and things like that. How do you approach that?
This was one of the first questions I asked the doctors, and they were really pragmatic about it and said there's not really much you can do. If an infection's going into the house, chances are both boys are going to get it. The one thing they did ask was that the boys don't share a bedroom.
What would your advice be to families with children who are dealing with CF and coming to terms with CF?
Cystic Fibrosis Trust is there as a source of information and support. I don't think I can really overstate how important that was as I was trying to get to grips with what was happening. The other thing that the nurse said was that he was a beautiful baby and this diagnosis didn't change that. CF it is part of your child's life, but it doesn't define them.
What does a life unlimited mean to you?
A life unlimited to me means that CF doesn't define you or what you do. There are things we need to do to keep the boys well, but they are not just CF. We're closer than ever to life-shortening not meaning life-limiting.
Cystic Fibrosis Trust was there at a really important time in my life, and then when I was given the opportunity to be a trustee, it felt like I could give something back.
Joanna
How will you be celebrating Christmas this year with the family?
Christmas usually tends to be a toy fest in the morning then we look forward to lots of festive food. Christmas is a time to be with family.
The boys don't take Creon, so we don't have to think about the impact of food like a lot of CF families. We have to incorporate physio, and that can be a real battle when there's new toys around and exciting things happening. CF doesn't stop just because it's Christmas, so the treatments can't either.
What would be the perfect gift for you and your family when it comes to CF?
I think the greatest gift for the cystic fibrosis community would be that everybody can access life-changing treatments. The boys have started Kaftrio this year, and I know that that loads of other people are benefiting hugely from these new treatments. However, we can't forget those who can’t yet benefit from the modulators.
Why would you encourage people to support our festive campaign?
The CF community is really vibrant, but we've all just been through a pandemic an now we need to make an effort to be part of communities that are important to us. That can be through raising funds for the CF Trust or volunteering your time – there are loads of ways that we can build this community.
What does being a trustee at Cystic Fibrosis Trust mean to you?
Cystic Fibrosis Trust was there at a really important time in my life, and then when I was given the opportunity to be a trustee, it felt like I could give something back. It was also really important to me to be a Scottish trustee because it's a UK-wide charity, and I really wanted to make sure that it has relevance to people in Scotland too. There is so much that the Trust does and to be even a small part of that, I feel is great; I probably get more than I give to be honest.
How do you feel that the Trust has supported you and your family personally?
Cystic Fibrosis Trust acted like an anchor at a point when everything was up in the air. You get a diagnosis of cystic fibrosis, you've never heard of it, you don't know what it means; you've got this tiny baby and you hear the words “life shortening”, and it's really, really bewildering. So, the Cystic Fibrosis Trust acted as a real point of calm and information.
Everyone with CF has different needs, but if we join together we can make change happen.
Will you unite with us and the entire CF community this festive season so we can keep funding our vital work, that could bring improved treatments for people with CF?
There are lots of ways you can support us this festive season, from playing our raffle through to doing some festive fundraising or buying Christmas cards and gifts for a loved one from our online shop.
Join together to make amazing things happen
Unite with us this festive season for a better life for everyone with CF.