Cystic Fibrosis Carrier

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Cystic Fibrosis Carrier

Postby Honey Bunny » Sun Dec 28, 2014 6:14 pm

So I decided to finally open up about this topic. Perhaps someone might need a bit of reassurance or insight.

With my first prenatal visit came the usual round of blood work done. Both OB's tested for over 100+ diseases, viruses, using the Family screen prep on Counsyl. Everything came back normal, or negative, except I was a carrier for Cystic Fibrosis (CF). I had no idea what this meant or what it was. No one in my family, or extended family has this. I am 100% healthy (from what I know) and have never experienced any of the symptoms.. I Started reading on it and it saddened me to think what this LO could endure in life if she or he did end up being positive for it. It brought me down from that cloud 9 we all usually go into as soon as we see that BFP..

Next step was getting DH tested for it. Since being a carrier only is a fraction of the puzzle. Heres what I've learned and makes me feel at ease.. When one parent has had a positive CF carrier test and the other parent has a negative CF carrier test, their chances of having a child with CF in the future is very low, but not zero. I think the genetic counselor said something like 1 in 800 or a little higher.. Which is better than 1 in 140.

So Friday my OB's office called and DH tested NEGATIVE.. I am soo happy and relieved that this is something that we can take our mind off. I know the chance is stil there but I know that there is soo little I can do at this point and that God is good and he would not put us through something we could not handle.

I am looking forward to this pregnancy, and even though the next hurdle seams to be that NT scan, Its one of those things you have to take one step at a time. Its crazy, but I know during the TWW or during the TTC journey, little do we know what roller coaster the first months of pregnancy seam to be. Being my first pregnancy everything is extra scary.

Well Im glad I was able to write this with a happy heart and a happy outcome. I hope that anyone else on the same boat also does find that happy ending as well.
Me: 27
DH : 53

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Claire Olivia
Born: July 17th, 2015

Baby # 2 EDD JULY 16th, 2016 - Team Green Again!
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Re: Cystic Fibrosis Carrier

Postby RoloCat » Sun Dec 28, 2014 7:53 pm

Would you like the genetic explanation of this?

Long story short, everyone has 2 sets of chromosomes, one from mom and one from dad. Each gene is represented on each chromosome--there are two copies. For CF, in order to have the actual disease, you need to have two copies of the faulty gene (and no copies of the "good" gene). As long as you have one good copy, you won't be sick at all. You're considered a carrier (heterozygote) if you only have one bad copy because you have a 50-50 chance of passing that faulty gene along to your offspring. But again, in order for disease to occur, your child would need a second bad gene from your hubs. So if he tests negative, your child won't have the disease (only way to get it would be through some sort of random genetic mutation or translocation, which is very rare).

Good news for you. Nothing to be worried about. That said, your child will have a 50-50 chance of also being a carrier, so that is something you'll want to let them know about in the future when they are planning their own family.
me: 41yo
DH: 42yo

TTC#1 cycle 3:
6/10/14 CD1
6/29/14 CD20 ovulation
7/7/14 (8dpo) BFP
7/9/14 (10dpo) beta#1 hcg: 34.5 progesterone 20.8
7/11/14 (12dpo) beta#2 hcg 139
7/30/14 early u/s 6w5d HB 121
8/12/14 u/s 8w2d HB 175
9/11/12: It's a BOY!
10/29/14: 19wk ultrasound
11/26/14: 23wk ultrasound
12/23/14: 27wk ultrasound
12/31/14: gestational diabetes. Yuck.

3/6/15: Welcome to the world, Thomas Joseph "TJ" Roland (2 weeks early)
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Re: Cystic Fibrosis Carrier

Postby em.chelle » Mon Jan 05, 2015 10:58 am

One of my best friends just went through this exact same thing, but found out right after her daughter was born that her daughter was a carrier of CF. Like Rolocat explained, your child should be told so that when they decide to start a family, their SO could get tested to see if they are a carrier as well... otherwise, chances are extremely low that it will affect anything!
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