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Cystic Fibrosis - diagnosis/trying to conceive/AIBU??

4 replies

somedayxx · 04/02/2023 14:55

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

OP posts:
Pinkywoo · 05/02/2023 19:12

Sorry I don't know much about CF but you might get more answers if you ask MNHQ to move this to Conception, good luck.

IslaO · 26/02/2023 01:35

@somedayxx hello!

Doing some insomnia night trawling of the internet here and came across your post. Something very similar has happened to us! My hubby got a zero sperm analysis so they recommended CF testing and he came back as having two mutations. I went to the same fertility clinic and paid a few hundred (!!) quid to get tested and luckily I was negative. From what I understand, 100% of our future children will be carriers but not sufferers as I am negative. Our a IVF clinic has said that we have to do genetic counselling beofre they will proceed with us which makes me wonder what it is they are worried/hesitant to tell us?!

hope you and your OH are ok- it’s quite a shocking thing to discover in your 30s. I still don’t think we have processed it!

Nacknick · 26/02/2023 06:55

Totally not irresponsible to have a child who might be a carrier. I got what they call a late diagnosis in my 40s - PM me if you want to ask anything.

LivingOnAPrayerYes · 26/02/2023 07:34

One in 25 people are carriers of CF, so just on that I really don't think it's irresponsible to have a child knowing they will be a carrier.

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