Cystic fibrosis carrier

BabyAntinore

Yesterday we learned through my bloodwork that I am a carrier for cystic fibrosis.  As a result, my husband had to get tested too. We will learn whether he is a carrier as well. Has anyone been through a similar round of testing? I would appreciate any advice.  

fallenangel313

While neither myself nor my husband have had the pre-pregnancy testing (personal choice and hasn't come up yet with my doctor) I will comment... my brother in law (MH's brother) has CF. He is a normal, mostly healthy almost 22 year old. He's in better shape than both myself and MH and as long as he takes his meds and uses his nebulizer, he stays mostly healthy...and he has the worst strain of CF possible. Everytime he gets a cold, it's worse for him than someone without CF, and usually he ends up with pneumonia and needs home IV therapy. It hasn't stopped him though... he got a degree in criminal justice and has a job he loves.

While it's SO difficult, try not to worry too much. There's only a 1 in 4 chance that your child will actually have the disease, even if your husband is a carrier. And it's not a death sentence like it used to be. They have made so many advances lately for CF...and are even doing drug trials for a drug that could be a cure.

I have known every day since MH and I got serious that if we had kids, they could have CF (long story- but I only have my mom's family history and we're guessing MH is a carrier, since it's more likely) and it hasn't stopped us. We have said for the last few years that we wouldn't get the testing done before we got pregnant because we just don't want to know. It wouldn't change anything for us and we've seen what the disease can do.

Good luck, and hang in there!

BabyAntinore

Thank you so much for sharing your story. We decided not to get additional genetic tests done. This test, however, was done with my regular bloodwork. Thank you again for your support. After doing some research, it was comforting to see how people with CF can lead very happy and healthy lives. 

melindam

I'm also a carrier and I found out because my sister tested positive when she was pregnant.  If your sibling is a carrier, there are good odds that you're also a carrier.  In both my sister's case and my case, our husbands tested negative for the gene. 

The test itself is very simple.  They'll draw blood from your husband just like they did from you and test it.  The typical test is to check for the 32 most common mutations.  In extreme cases, they can then go on to do a more extensive test to look for mutations beyond the 32 most common.  That extensive test typically requires genetic counseling and a really good reason.  In my case, when we were TTC, there was a thought we might need to go the IVF route.  In that case, they wanted to more extensively test my husband so that they would know what to look for when selecting an embryo for IVF.  Thankfully though, he tested negative on the more extensive test as well.

If your husband does turn up as a carrier, then your child has a 25% chance of having the disease.  But as previous posters have mentioned, the disease is no longer a death sentance and people with CF can have happy and productive lives.

Good luck!