Cystic Fibrosis - diagnosis/ttc/AIBU?

[somedayxx]

Hi,

Firstly, please excuse any naivety of the below and I really do not want this to be a trigger for those who suffer day in day out with CF as the below is not comparable at all, I appreciate that and send love to you all. I also didn't know where to post this but would appreciate any insight/thoughts.

My partner was told he has cystic fibrosis yesterday (aged 38) which came as a massive shock, it was the fertility consultant who told us and he just said "it's rare and very mild and you are very lucky" - it only came about after just over 1 year of trying to conceive after having low sperm counts (which did improve slightly with varicocele embolisation). He has been referred to a genetics specialist but the NHS consultant eluded to there being a really long wait for this so we don’t know any more at all at this stage. He has absolutely no symptoms and as he does produce sperm (albeit low counts ranging between 1-4 million total motile sperm count) and normal volume and has had an ultrasound of his testicles, presume the vas deferens are present which I think can be quite rare with CF? He does have mild asthma but runs marathons and is really active etc, hence the shock.

We have been looking at IVF in the run up to yesterday anyway, but I need to get tests done asap to confirm if I am a carrier etc as we will need to consider PGD testing. I’ve looked at 23andme online to do the testing which states: “23andMe tests for 29 genetic variants in the CFTR gene linked to cystic fibrosis”

Will the NHS test a larger number of genetic variants with their genetic testing? I’ve seen a few private tests which state they only do the 29 variants, but I’m worried this won’t be sufficient and not sure how to proceed!

Also, I know I shouldn't be asking the internet this so don't shoot me down, but do you think it's irresponsible having a child who you know will be a CF carrier? I have read stuff this morning on posts which I wish I hadn't and can't shake it  I understand that we would need conversations early on about if they were wanting children later in life and the need for partners to be tested etc ..

Thank you x

I would go ahead and have a child if you can, even if you are a carrier your embryos will be screened. The general population are 1/25 carriers or something like that and your child will just be forewarned they would need their partner testing. Lots to get your head round but good luck!

Hi OP.

I am married to DH who has CF.
I was genetically screened before attempting to have DC via ICSI. My GP arranged my blood test for CF carrier gene testing. I would not have gone ahead if I had been a carrier as it would have meant a 1 in 4 chance of having a DC with CF. Your DH does sound really mild but I’m sure it’s been a shock finding out this late.
I don’t feel irresponsible having a child who is a carrier as we have openly discussed with them the need for their future partner to be tested before they attempt a family.

I really can’t remember much about my testing tbh, only that DH’s consultant said that as I was negative for the common carrier genes tested, and it was such low risk of being a carrier of the rare ones, that he was happy for us to go through treatment.
Things have obviously moved on as we certainly weren’t offered, and didn’t pay any extra, for PGD testing in any of our cycles of treatment!

You should be able to be tested through the GP, there is a link here and in the “who can have a carrier test” section there is a clickable helpline bit if you have any difficulty. It’s all a lot to deal with I’m sure.
www.cysticfibrosis.org.uk/what-is-cystic-fibrosis/diagnosis/family-genetic-testing

www.cysticfibrosis.org.uk/life-with-cystic-fibrosis/family-planning

There are forums on the CF trust site so I’m sure there will be lots of knowledgeable people who can help. All the best
www.cysticfibrosis.org.uk/news/valentines-blog-nicola

@somedayxx we have found ourselves in the exact same position. I would love to chat. Please PM me if you’re up for doing so xx