Cystic Fibrosis Tests etc

[Nagasaki]

Hi all

After many chest infections and a chronic cough, DH has recently been diagnosed with bronchiectasis (on top of his asthma).

His consultant said that as he is under 40, he had to do a genetics test for cystic fibrosis.

He received the results in a letter today, and is feeling pretty anxious and scared by it. Basically, he has tested positive for one mutated gene, but not the two that means CF. So he's a carrier, I guess.

What is frightening him is that he has been referred for further tests at the CF clinic, and our son and I have to be tested also.

I'm hoping that this is just routine, and good thorough work by the consultant, but is that the case? Should we be worried about the further tests? What are the implications for DS (4) if I am found to be a carrier? He has shown no symptoms of CF or any other lung probs.

Sorry for the mini essay!

I will be watching this thread with interest as DH is also a CF carrier. He has an unusual situation in that he actually has a mutation on both genes, but one is a rare one and doesn't cause CF in combination with his other mutated gene. When we were ttc, I had to be tested too in case I was also a carrier (luckily I wasn't).

I understand that something like 1 in 25 people are carriers. When our dd is abut 14, we will explain the situation to her and explain the need for her to be tested before she considers having a family and if she is a carrier, any partner she wishes to have children with will need to be tested too.

Is ds your only child? Are you planning to have more?

Thanks for replying. Yes, DS is our only child and we are content with our family as is, so no issues from that if I turned out to be a carrier.

I don't think I am a carrier, but I can understand how important it is for both of us to have the knowledge to give to DS so when he is old enough to start a family, he can make choices.

I guess it's more the "further tests" that is making DH (and me) anxious. Are there other 'strands' or CF like conditions that the consultant might be considering? Typically, the letter is ambiguous enough in its language to leave us guessing...

...And it's a bank holiday weekend, so we can't call her for more information! Sod's law.

Hi

I can understand how worrying it must be. I think it's sounds unlikely your little boy has cf from what you have said.

My younger cousin had it and was diagnosed as a baby as she was so ill and failure to thrive. Plus your son would have been tested with the heal prick test when he was born.

That said would be worth finding out if you are a carrier if planning more kids. In terms of my aunt and uncle were both carriers and they had 4 children togethe only one had cf and two of them were twins.

Try not to worry but I understand why you would x

We had absolutely no idea that dh was a carrier. There were no family indications so it came completely out of the blue for us.

Has your dh spoken to his siblings (if he has any), and his parents? It's important that other family members are tested - cousins etc.

He's spoken to his DM. No family history. He's estranged from his father, so we don't know about that side. Siblings are fine, no chest problems at all.

DH has had asthma for years but his bronchiectasis was only diagnosed this year as a result of 5 chest infection in 8 months.

No other signs of CF, but DH is likely to be a carrier according to the letter. We will all be tested and know where the land lies for DS. I'm thinking there's not much more to consider at this point. I'm still trying to scrape DH off the ceiling about the further tests with CF team, but in my gut it's just the consultant being thorough rather than anything serious underlying... right?

God, I can't wait for Tuesday to get the actual information. Bloody bank holidays

His siblings might be fine, and have no chest problems, but being a carrier doesn't necessarily cause any concerns. The reason why it's important for siblings to be tested is so that their children too can be tested etc. My dh has absolutely no family history of CF or chest problems but it only takes one carrier to have children with another carrier (.who may not know that they themselves are a carrier) and the chance of a child being born with CF is 1 in 4.

If your dh's mum is not a carrier, then obviously her siblings will not be either, and none of the cousins on that side need to be informed.

However, it throws up the fact that the CF would have come from his estranged father's side. Does he have any contact with cousins from that side?

Well, he does have a little contact with those cousins. And we know his father has children with another woman, so it is likely we have to communicate with that side of the family at some point. We will wait to see what approach the CF clinic advise.

Thanks for all the replies. It helped just posting!

You may not have to contact his father's side. If his mother turns out to be the carrier, then chances are, you will not need to contact his father's side, but that's something to discuss with the CF clinic.

Good luck.