"We desperately need research to continue, to help Isaac and others in his group": Lizzy's story

When the CFTR modulator drugs came along in 2020 it was incredibly exciting for everyone in the CF community. I supported other people’s right to gain access to these ground-breaking new treatments, joining protests in London. When they became available we were overjoyed, but there was a sense of not quite being invited to the party.  

Lots of friends and family contacted me about the wonderful news. My reply was that yes, it was wonderful, but unfortunately, they would be unable to help Isaac because he has two rare class 1 mutations. This means he never makes the CFTR protein in the first place, so needs a very different kind of fix. 

CF is very rarely in the background in our house. The last sixteen years have been a constant round of infection, gut and sinus problems. Isaac has stopped playing football and rugby, and suffers a lot of pain. I would just love, absolutely love, for him to sleep soundly one night, really well. Is that so much to ask for?  

We have to live a very structured life, and the whole family loses spontaneity. There’s a saying about only being as happy as your least happy child – and for a happy child, you need a healthy one.  

We’ve always been told that a better quality of life is going to be like a jigsaw puzzle, each piece improving management of each of his symptoms – we’d just like more jigsaw puzzle pieces please!  

It is reassuring to know that there is research being done by the Trust to develop treatments to help Isaac and the other people with CF for whom the new CTFR modulators do not work for. There was a fear that from all of the media attention that the CFTR modulators got that researchers would think that CF was fixed. If there was a treatment for the underlying cause of Isaac’s CF it would feel so different to treating only his symptoms.  

We desperately need research to continue, to help him and others in this group; until the day when CF can stand for Cure Found.  

Isaac is pictured with Caroline, his CF nurse of 16 years

Our latest Research in Focus report is out now! It spotlights the promising laboratory research underway to develop medicines that work for everybody with CF. 

 Read the report