Initial genetic testing results **UPDATED PG 2**

[Ann612]

Of course you're going to stress! I'm sorry you're dealing with this. How quickly can he gets the tests/you get results? Will be thinking of you.

[Ann612]

Sept 10, 2015 8:52:45 GMT -5 @ismellbooks said:

Sept 10, 2015 8:44:44 GMT -5 Ann612 said:

Of course you're going to stress! I'm sorry you're dealing with this. How quickly can he gets the tests/you get results? Will be thinking of you.

They want us to talk with the genetic counselor this evening, then I'm going to try to convince MH to go have his blood drawn in the next few days. It took two weeks to get my test results back, so I imagine it'll take about that long.

ughhh, I'm sorry for that wait.  I hope talking to the counselor will be helpful in the meantime.  

[holidayarmadillo]

I hope you can get his result quickly and get some peace of mind.

I have a close friend with CF and worked for a lab that does some research on it, so if you have questions, feel free to PM me.

[steveo]

I know it's scary, but remember even if YH does have the mutation, two CF carriers have only a 1 in 4 chance of a baby with CF.

Genetic stuff during pregnancy is a terrible waiting game. I have been there in spades with my last pregnancy. Just do whatever you can to keep your mind off things, because it is completely out of your control. Awesome feeling, that (insert sarcasm font).

ETA Also, why would you have to "convince" your husband to get his blood drawn?!

[graysweater]

Hugs lady! I know this has to be an incredibly hard wait. Hopefully they can get the test results back sooner rather than later.

[steveo]

Sept 10, 2015 9:51:38 GMT -5 @ismellbooks said:

Sept 10, 2015 9:30:34 GMT -5 steveo said:

ETA Also, why would you have to "convince" your husband to get his blood drawn?!

He's more than willing to do it. More, I meant getting him to do it in the next few days. He's slammed at work wrapping up his project, and it means him having to leave early.

It's a non-issue though, because he's already said he'll go tomorrow.

Okay good I was about to be like "what the hell Mr. Ismellbooks?!? Get your ass to the doctor!"

[ladywolff]

I'm sorry. Waiting for genetic testing is so hard. I hope you get your results soon and that you can find something to take your mind off it until then.

[Deleted]

I'm so sorry @ismellbooks, my niece has CF and she turned 1 year old yesterday. She is such a little chunky monkey! So healthy aside from the fact that she has CF. FX for YH's test coming back negative. We're still waiting for the testing because I know it runs on DH's side (not that he himself has been tested) keep us updated.

I know my SIL would talk to you about stuff if you need to at any point. I think she was on this board for a while but I'm not sure if she just quit when TB got all "the dumpy" and this board started.

[minae01]

You have had quite an eventful first trimester. Geez! I am so sorry that you have to go through this. You have every right to be worried, but like steveo, said, even if he is a carrier, there's a 75% chance your baby will not have it. Those are good odds to focus on.

[steveo]

@ismellbooks, not to be a skin suiter, but I was interested in the connection between Ashkenazi heritage and CF (I had not heard of it, only for things like Tay-Sachs). Anyway, I found a pretty credible looking site, which says CF is no more prevalent in the Ashkenazi Jewish population than in the normal Caucasian population.

All that to say, looks like YH has the same 1/25 or 1/24 chance of carrying a CF mutation as anyone else. Hopefully that helps to put your mind at ease a little...

[ciaobaby]

@ismellbooks, I totally know how unnerving this waiting game can be! When pregnant with DS, I found that I was a carrier for CF. DH went to LabCorp within a day or two of me receiving my results, and we received his results in approximately 5 to 7 days. Luckily, he was not a carrier but I did plenty of research during that limbo period. As steveo mentioned, if two CF carriers have a child there is only a 25% chance the child will have CF. Fingers crossed that you quickly get results that rule out your husband as a carrier! Please keep us updated.

[PiradicalMaid]

I hope you're able to get YH's results quickly. I can only imagine how scary it is, but like PPs said, even both being carriers isn't a guarantee of your baby getting CF. And even if your baby has CF, they can still live a long and happy life.

FX YH isn't a carrier! Let us know

[PiradicalMaid]

Sept 10, 2015 14:05:21 GMT -5 @ismellbooks said:

Sept 10, 2015 12:42:06 GMT -5 steveo said:

@ismellbooks, not to be a skin suiter, but I was interested in the connection between Ashkenazi heritage and CF (I had not heard of it, only for things like Tay-Sachs). Anyway, I found a pretty credible looking site, which says CF is no more prevalent in the Ashkenazi Jewish population than in the normal Caucasian population.

All that to say, looks like YH has the same 1/25 or 1/24 chance of carrying a CF mutation as anyone else. Hopefully that helps to put your mind at ease a little...

Thank you for this. I remembered reading on the paperwork I signed that CF was listed under the extra elective Ashkenazi Jewish panel screening, but if the odds are so similar, I'm not sure why— don't they screen for CF when they screen for Down Syndrome and the like?

I'm going to see if I can get his blood results rushed; this constant waiting game is causing me so much undue stress. But thanks to you too, @aest and PiradicalMaid, for the perspective. An A16 mom on another group I joined found out today her baby stopped developing three weeks ago. I have to choose to be thankful for this little life I have growing inside of me, no matter the challenges we could face.

I in no way meant to belittle how difficult that news must have been. We all want the best for our babies and we want them to be happy and healthy. It must be so scary to hear your baby might be sick. It doesn't mean you aren't grateful, it means you love your little bean and want the best for them!

[steveo]

Sept 10, 2015 14:05:21 GMT -5 @ismellbooks said:

Thank you for this. I remembered reading on the paperwork I signed that CF was listed under the extra elective Ashkenazi Jewish panel screening, but if the odds are so similar, I'm not sure why— don't they screen for CF when they screen for Down Syndrome and the like?

I'm going to see if I can get his blood results rushed; this constant waiting game is causing me so much undue stress. But thanks to you too, @aest and PiradicalMaid, for the perspective. An A16 mom on another group I joined found out today her baby stopped developing three weeks ago. I have to choose to be thankful for this little life I have growing inside of me, no matter the challenges we could face.

Not sure what was on your forms, but I've looked in a few other places and they are all consistent with that site I linked -- no increased risk for Ashkenazi heritage.

As for choosing to be thankful -- in my second pregnancy, at 12 weeks I was given a 50-50 chance of a Trisomy or other chromosomal defect, and if no chromosome issue then another 50-50 shot at a heart or kidney defect that may not be compatible with life. You can bet your ass that feeling thankful while we waited for test results was pretty much impossible. I mostly felt fear and anger. It was all I could do to get through each day. Don't beat yourself up -- this stuff is incredibly scary when it's happening to you and your baby. 

[PiradicalMaid]

((hugs)) @ismellbooks

[URMySunshine77]

I'm sorry for all of this stress, dear. I hope that your husband's blood test comes out negative as a carrier. Sending you a hug.

[Deleted]

Sept 10, 2015 17:04:46 GMT -5 @adulruna said:

Oh i'm sorry you have to wait so long! A baby from S14 back in TD has CF and i believe she is doing great! I recently read too that they were coming out with an amazing treatment as well.

FX he's not a carrier and all is well with LO!

Pretty sure that is my SIL.

[shananagins]

So happy to read this update!!!

[danenikki]

That's great news.

[minae01]

That's some pretty good news! Thanks for the update!

[lclegit]

Yay for good news! I hope your H is negative and that you have nothing to worry about.

[ladywolff]

That's such good news! Still hope YH tests negative though.

[tdf2010]

That's great news!

[Courtniko]

That is great news!