Hi new member with CF

My goodness me what a horrible way to find out but fortunate you did. I hope your nephew is doing well.

I am treated within the Bronch Service in Leeds and the consultants are very proactive. There are lots of respiratory consultants here but not all have a special interest in cf/non cfbe and I can honestly say in my lifetime I have had good, bad and indifferent cons. Folks are very lucky now we have the internet. I wish you had been part of our family when you did live in Leeds as we could have pointed you in the right direction, as you would have been tested earlier.

Well Rainbow we are where we are and I hope the fresh air is of great benefit to you..

Cx

Gosh.... what a shock! I’m glad you found out though! I used to live in London and I am sure my health would be better managed there... I am now in Leeds and am treated at the chest clinic at Seacroft. I have a real phobia of the LGI,created decades ago,and find it practically physically impossible to actually go there!

I’m glad to hear you’re doing ok. DeltaF508 is indeed the most common mutation - around 90% of the UK CF community carry at least one copy of it, and there are a lot of new treatments in the pipeline for those that have it as a result (drugs like Ivacaftor and triple therapies designed to improve lung function) although there are issues over cost between NICE and Vertex who are creating them. I believe the initial screening panel tests for the top 28 mutations found in the UK, so it’s entirely possible not to pick up a second mutation from it if it’s much more rare, and there are now 2000+ known mutations of the CFTR gene. In some cases a second mutation still isn’t picked up even with a full genetic search, but as you’ve already found you’ll continue to receive appropriate treatment even if this turns out to be the case given that you clearly have symptoms. My daughter has mutations that are in the 28, but both are rare within that - of the 10,000 in the UK with cf, only 30 other people carry one of them, and the other is shared by around 100.

Both of your parents would have to be carriers (at a minimum, it’s possible your dad could have had the disease, although polyps aren’t unique to cf) for you and your sister to have cf. With regards to your daughter...the decision to have carrier testing is entirely down to the individual and I would never, ever presume to tell anyone otherwise. But, as someone whose child has already spent 2.5 years of her life in hospital, takes 25+ tablets, 6 nebulisers, 2 inhalers a day just to try and stay well, and quite often has a lung function in the 60s despite my best efforts, I do very strongly feel that where there is family history then cascade screening is extremely important. CF is a spectrum disease and highly individual, even identical twins can have very, very different disease profiles, and just because one person is relatively ‘well’ with cf doesn’t mean another child within the family will be. I would give my right arm for my parents to get tested if only to inform the wider family which of them could potentially be carriers and enable informed choices for having children, but neither will do it. Both my half-sisters have been screened though, the youngest off her own back last year as soon as she turned 16, and that was as a direct result of living with us and seeing the reality of CF when at the more severe end of the spectrum. You probably already know this, but even if it came back your daughter is a carrier, and with your diagnosis the odds are 1 in 2 that she will, the only thing that means is it would be sensible to screen a future partner she intends to have children with. If he came back negative, then that’s the end of it, but if he came back positive it would enable them to make an informed decision rather than having a child and simply hoping for the best. I wouldn’t be without E for the world, but I do wish I’d known cf was a real possibility prior to having her; we get on with it, but there is no denying that her life at times is incredibly hard, and we opted not to try for any more children after spending 6 of her first 12 months in hospital. I apologise if I seem ‘preachy’ or am telling you things you’re well aware of, and I hope I haven’t offended you, I just struggle to understand anyone with family history not finding out their carrier status having seen my daughter struggle so much.

I’m not a fan of the CF Trust (long story, and partly why I loiter here), but they do have a forum. I haven’t been on there in a long time now, and the parents/carers’ section is dead these days anyway, but there seems to be some activity in the section for adults with cf if you wanted to try and reach out to others. There’s also a number of UK Facebook groups if you’re on social media, and those are very active. If I can be of any help at any point or you just want to have a chat though, feel free to drop me a line. Good luck for finding your second mutation, too.

Take care,

Charlie