Cystic fibrosis help - interpreting results

[CFhelp]

Hi,

My partner was diagnosed with CF last week - I have no idea where to post this but is there anyone with any knowledge out there that could help decipher what this all means please?

We only found this out via fertility investigations so it came as a massive shock, we just don't know what this means or what's next..

The fertility consultant acknowledged he knew nothing about CF and said we would need to wait to be referred to genetic specialists but that there will be a really long wait so in the meantime, we are left just knowing what's on the attached. My partner is becoming increasingly anxious (as am I and it's difficult to support him when we need answers to lots of questions).

Any help deciphering the attached or signposts to any good websites/info sources would be most appreciated!

Thanks so much.

The consultant at Brompton said he had recently diagnosed a 60 year old with CF.

My sister was diagnosed at 40.

OP - for a child to have CF - rare or common or whatever- they have to inherit the gene from both parents. So if you're entirely clear, your children won't have CF.

Having said that, there is some evidence that people who carry a really strong CF gene (eg delta f508) do show symptoms. Weaker mutations are unlikely to impact carriers

@CFhelp this has just happened to us!!

OH has zero sperm in an analysis.. urologist couldn’t locate a vas deferens and we got this confirmed in an MRI. Had genetic tests done and he is a compound heterozygous carrier of CF meaning he inherited a CF mutation from both parents but a different one from each of them.

I have no idea what to make of this and cant help but panic over how this will impact his life and our potential future children. He has no symptoms but I wonder if these can develop later on? He’s only 34!

anyway, hope you know you’re not alone! X

I also have the CF gene and so does my daughter. DH doesn't so that's why she doesn't have CF. As far as I understand it if you have kids with another carrier any kids may have CF. Incidentally both DD and I have incredible propensity to chest infections and both have asthma. Always wondered if there was a link. And fwiw DH had genetic testing (not for CF) and it took weeks not months or years and we found it all very smooth. Good luck

Hi Isla, I think we have previously exchanged messages when my partner had a varicocele embolisation/ linked to fertility but I NC for this post!

It's so hard isn't it, it's almost good to get an answer after all this time (so you know what your options are and can be more informed and stop looking for other answers that don't exist (but then in the meantime until we've spoken to someone, we have no idea what it means for him!)

We have our appt with genetics on 6th March where I will need testing to see if I'm a carrier - did you do your tests privately? Were the results quick? This appt is with r r NHS but I'm in talks with Reprofit clinic and wanting to start meds at the end of April to start in May all being well...

My partner does have sperm; so must have the vas deferens; but has always had low counts/numbers across the board so depending on my results we will need to progress with IVF and my CF results will determine the route with IVF we take. As it was the fertility consultant who told us, we are so unclear on what it is my partner actually has.. he just said it's mild and rare but said he actually has CF, not just a carrier. But said it's not his field of expertise so until we've spoken to a specialist, we know nothing!

If you are not a carrier then you can't pass CF on to a child. Children could still be a carrier; but don't think it's a given? Like someone else said in another post - there's a 1/25 chance of being a CF carrier but the genetics specialists will be able to talk about your partners specific genes etc and how this could translate this for you/future children and probabilities/options to consider etc.

Will you be referred via NHS genetics? Is your next step SSR?

Thinking of you and sending love and hugs!

x

PS please ignore my appalling punctuation in that message!

@CFhelp i am so sorry, I genuinely remember replying to this!!

how are you doing? Hope your journey is going ok xx

Hi,

Thanks for your message.

Turns out the fertility consultant told us wrong.. when we went to see the geneticist they confirmed my partner is a carrier of CF but doesn't actually have it despite being told outright that he has it which was confirmed in the letter we received! I was tested and I wasn't a carrier so we started IVF straight away in April.

Hope everything okay at your end? xx

awh wow! How is the IVF going? We went down a similar route as you guys, im not a carrier so we started IVF last month (cycle cancelled) and again this month. Just had egg retrieval yesterday but it’s a freeze all cycle so taking a little break for now!

Also @CFhelp did you have to have a TESE? X

Hi,

We didn't have to have TESE as my partner had sperm (but low counts across the board).

We went to Reprofit clinic in Brno and they were fab, we were extremely lucky on our first fresh transfer; currently 15 weeks (all being well).

I got OHSS after transfer despite being on the lowest dose of stims so still have multiple cysts on my left ovary but they don't seem too concerned, just need to keep an eye on them at scans!

That sounds like promising news though I think (hopefully) - does that mean your husbands TESE procedure was successful? Good luck on the next part of your journey!! Sending hugs xx

@CFhelp that is amazing news! Congratulations!! I bet you didn’t think you’d get tot his point at some stages so it must be so amazing!

Tese was a success and we have 9 vials frozen. We did a test thaw of one of them on the day and they thawed fine. So next up was stims. They low balled me with meds first round so we canceled it and tried again and this was much better. We currently have 9 day 1 embryos and I am trying so hard to distract myself from overthinking and worrying. Just hope hope hope we get something by day 5!!