Any other carriers out there?

Julesby · October 2015

There was an issue with one of our genetic screening panels, so it came back later than the other tests and I just learned that I am a carrier for Fanconi Anemia Group C. Given that this is more prevalent in Jewish communities and I have no known Jewish heritage, this was a bit of a shock to us. We won't know if my husband is a carrier for 2 1/2 weeks. I know there's only a very small chance that we would both be carriers (especially because he's African American), but I am still worried and I hate that I am.

Is anyone else going through a similar experience? I realize there's nothing we can do or accomplish, but figured at the very least, we could connect.

Julesby · October 2015

Note: I apologize if this is a duplicate thread. I promise that I looked first!

RoseShadow873 · October 2015

I didn't do any genetic testing other than the CF screening but I was freaking out about it, especially since it took 2 weeks to get results. Just remember, even if your husband's a carrier (which he probably isn't) there is still a 75% chance your kid would be fine! Those are pretty good odds!

Julesby · October 2015

RoseShadow873 said:

I didn't do any genetic testing other than the CF screening but I was freaking out about it, especially since it took 2 weeks to get results. Just remember, even if your husband's a carrier (which he probably isn't) there is still a 75% chance your kid would be fine! Those are pretty good odds!

Thanks! I keep telling myself this, but it's a lot harder to be rational than I thought! It doesn't help that I know too much about the disease from a prior job.

eastdurian · October 2015

I was so terrified while waiting for my Counsyl results. My niece has CF and her mother didn't test positive when she was checked because she has a rare form that she's carrying, her husband is my BIL through DH. I'm a carrier for biotinidase deficiency but it doesn't seem too bad because it can be managed with vitamins so we're not going for any more testing.

It'll be helpful when your husband's results come back. Hopefully he isn't a carrier so it's NBD. Otherwise I'm sure you & your doctor can decide together whether you think an amnio is the right choice. Good luck, the advances in genetic testing are amazing but also... stressful.

tara4910 · October 2015

Sorry you have to wait such a long time for his results, that must be stressful. Our progenity results came back a whole week earlier than expected, so maybe yours will come back sooner than 2.5 weeks! We found out that I am a carrier for spinal muscular atrophy, but fortunately my husband is not. Once they have both of your results make sure you speak with the genetic counselor. They helped put me at ease about the results and they gave us the risk level of having a baby with SMA compared to the general population. Fingers crossed that you get good news!

NachosAndPeaches · October 2015

I'm Jewish and am a Tay Sachs carrier. My husband is not Jewish and is not, but it was a big fiasco because he had a last minute deployment change and had like a week notice so we couldn't do the second part of his panel until he was back home and I was like 30 something weeks.

My parents are both carriers (obviously, since I am), and they did an amnio with me and my sister. My mom had a third pregnancy that was positive for Tay Sachs and they terminated, but we never knew about it until adulthood.

cjbwifey2010 · October 2015

I totally found out that i have the sickle cell trait when I got a letter from the Department of Health telling me that the trait was passed down to my son. We got DH tested a few weeks ago to figure out if he was a carrier and the test came back negative. Thank God it's only the trait and not the disease. I'll just have to keep this in mind and let DS know about this when he is older. My mom didn't know she was a carrier apparently. Both my sister and I have the trait.

Julesby · October 2015

Thanks, ladies. I'm glad to hear that everyone has had good news so far.

@NachosAndPeaches - I'm sorry to hear about your family. That must have been difficult for your parents! But, I'm glad that your husband isn't a carrier!
@cjbwifey2010- so glad to hear that your son only has the trait and not the disease!

I did the math yesterday, and there's only a 0.07% chance that our child will have FA, which made me feel much better. Hopefully, all will be well. FA isn't fatal like Tay-sachs, but it's still pretty darn grim (low life expectancy, 90% chance of bone marrow transplant, increased risk of cancer, and high risk of birth defects).

Disneygirl921 · October 2015

I found out this week that I am a carrier for hereditary fructose intolerance. We will still need to test my husband, but currently there is a .3% chance that the baby would have it. Luckily, even if the baby has it, it just means being very careful with diet (from what I can find). It's odd because we don't have any one in the family on either side who has a problem with fructose, so who knows how long this has just been passed down or if it was some more recent mutation.

St0v3s · October 2015

I am a carrier for sickle cell trait. I stressed about it for a while then did more research and was calm about the possibility of the little one having it if my husband was a carrier as well. Thankfully we found out my husband wasn't a carrier.

Julesby · October 2015

@Disneygirl921 - good luck with your tests, too. I completely understand being baffled by the results

St0v3s - Glad to hear your husband isn't an SC carrier!

cjbwifey2010 · October 2015

Thanks @Julesby; definitely put our minds at ease.

Any other carriers out there?

Re: Any other carriers out there?

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