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1st Trimester
Carrier of CF mutation...
I finally talked to the doctor today about my blood work from last week and found out that I carry a mutated cystic fibrosis gene. My husband has to go get tested to see if he carries one as well. If he does, we have a 25% chance of our baby having CF, a 50% chance of it just being a carrier, but having no symptoms (like me), and a 25% chance of nothing happening at all. I am freaking out! Hubby has an appointment for Tuesday morning and we'll hopefully get results by the end of next week, but I'm sick over this.
Thanks for listening.
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Re: Carrier of CF mutation...
I have Cystic Fibrosis (a mild case thankfully). Genetic testing for the disease wasn't common when my mother was pregnant with me so they had no idea they were carriers and I wasn't diagnosed until I was 5 1/2. My brother was already 3 at the time so he was tested and he's totally healthy. There are so many mutations of the CF gene that they can't even test for all of them. My husband was tested for like 1,200 mutations & thankfully he came back negative for all of them. However, we were warned that there's still a 10% chance our child could have the disease due to the mutations not tested for.
It is very possible to live an active, full life with CF, even more so these days due to all the advanced medications and treatments. I truly hope you receive good news - I know every parent wants their child to be healthy.
I also found out this week that I'm a carrier. DH is going for testing today to see if he is a carrier. I'm trying to think optimistically that there is a 1 in 30 chance that he's a carrier, so it's pretty likely that he isn't. If he is a carrier, there is a 75% chance that the baby won't be affected.
We already have a child but they didn't test for CF with my first pregnancy (different practice). Our state tests all babies for CF at birth and Mia tested fine.
Mrs.Litz: Thanks for your well wishes!
xporcelainangelx: Thank you for the information. It is good to know that it is possible to live a normal healthy life with CF and that you are the proof. You made me feel a little better!
AliBride2006: Hopefully both our DH's won't carry the gene and everything will be fine!! BTW, I got married in 2006 as well.... I think I remember your name from the NJ Knot Boards way back when! Was that you?? I was Erin06Bride back then.