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Well that's just f*&%ing fabulous.

My ob/gyn just called. Apparently, according to my bloodwork, I am a carrier for the abnormal gene that causes Cystic Fibrosis.

DH is going in for bloodwork tomorrow and hopefully we should find out whether he is also a carrier next week. After those results, we'll schedule genetic counseling if necessary.

Apparently it's very rare for both "reproductive partners" (as my OB called it) to be carriers - and it takes both parents carrying it for a child to have a chance of developing it. Basically, my carrying the gene means that one of my parents carried it.  So I just got off the phone with my mother because we have no history of CF in our family at all. To my knowledge, my biological father's family doesn't either. But I told her because I figured that eventually, when my brother and sister go to have children, that they need to know that there is 50% chance that they are also a carrier.

Oy. OB said he really wasn't too worried where we already have one healthy child and for me not to worry until we get DH's results back. At that point, we'd go from there. Meh.

Re: Well that's just f*&%ing fabulous.

  • bummer, Heather - I think it's really common for one person to carry it. ?We have no family history, either, but my dr said it doesn't matter, if you're white it's a possibility. ?I am debating right now whether to do this testing....I didn't w/Jude and I don't think my ins. covers it. ?hmmmmm
  • That is scary Heather. I never had the test done during pregnancy with either kid. I did have to have Bennett tested for CF,that was not fun. From what I understand it is really rare for you both to be carrying the same mutation which is the only way you could have a child who has CF. It is so scary though. I know that Anje (lexyty) is also a carrier and has been through this with Andrew. Hopefully she sees this post and can offer insight.
  • So, if you both ARE carriers (big if), that obviously doesn't guarantee that your child would get CF.  What are the odds, do you know?  And I'm curious why you didn't find this out when you were pregnant the first time?  Did they just not do this testing?

    Etierh w

  • So, if you both ARE carriers (big if), that obviously doesn't guarantee that your child would get CF.  What are the odds, do you know?  And I'm curious why you didn't find this out when you were pregnant the first time?  Did they just not do this testing?

    Either

  • So, if you both ARE carriers (big if), that obviously doesn't guarantee that your child would get CF.  What are the odds, do you know?  And I'm curious why you didn't find this out when you were pregnant the first time?  Did they just not do this testing?

    Either

    way,
  • Seriously, Nest?  ugh.

     As I was saying, either way, I'm sorry you got this news.

  • Okay...so, no, this test wasn't done when I was PG with Alex. I'm not sure why, maybe it wasn't required in the office then? In any case, they were all over me this time.

    If Matt and I are both carriers, it breaks down like this: 25% chance of baby having it, 50% chance of baby carrying the gene, 25% chance of baby not having it and not having the gene.

    According to the internet research I've done over the past hour, generally, caucasians have a 1 in 30 chance of carrying the gene. They say it's 1 in 800 chance of both partners carrying the gene.

    I'm just very surprised to find that I carry it. I told DH I feel like a genetic cesspool. I also have ALS in my family, although it seems to have gone down another branch of the family tree.

  • Ugh, I'm sorry to hear that Heather - hopefully Matt will not be a carrier...I can imagine this must be scary for you :( Hang in there - hopefully it will be nothing to worry about...
  • I'm sorry Heather!  What difficult news to receive, especially on a Friday so you have to wait till next week to do anything further.  I will pray that Matt is not a carrier & the worry can end here.  Please keep us posted!

    Good luck!  I will be thinking of all of you!

  • Heather, I'm sorry you got this bad news.  I am hopeful that everything will turn out ok!  Please let us know what happens!

  • Oh no Heather. I'm sorry you got that news! I hope that Matt turns out to be negative for carrying the gene. What test is it that you had to have to find this out? Was it just a regular blood test?

     

  • Urg, sorry to hear that. Hopefully DH will be negative and you will not have to worry. Good you found out so that your other family members know to be tested.
  • I suppose I shouldn't be such a loser about this. My AFP came back great, which was good. And Alex said bye bye today. :) I'm just feeling crappy about this and DH is just being aggravating, so everything is kind of blown out of proportion, and I have a lovely 2 hour car ride down to my mom's tonight to look forward to (in rush hour traffic). Blah.
  • My husbands step niece and nephew both have CF. I'd wait till he can get tested before you worry or anything. I wouldn't want you thinking about what ifs before then!
  • Sorry that you had to get this news.  Hopefully your DH will get a good report! 

    How cute that Alex said bye-bye! 

    Chrissy BabyFruit Ticker Baby Birthday Ticker Ticker Baby Birthday Ticker Ticker image
  • Ugh, I'm so sorry you have this stress!  :(  I will send lots of good thoughts and prayers that everything turns out fine.  Hang in there, it's not easy to wait for these things!
    Lilypie Fifth Birthday tickers Lilypie Second Birthday tickers
  • heather,

    im sorry you got such crappy news.  sending you tons of thoughts and prayers!

  • Heather, when can they definitely let you know?  I am sure that the baby is fine and that Matt isnt a carry.  I mean, what are the chances (1 in 30 right) that BOTH of you are carriers?!  I think you, and baby, are fine but you have my thoughts and prayers anyway!
  • Hey Heather- I just wanted to chime in that I am a carrier and DH isn't.  My OB tested me before I was pregnant, and I was shocked that I was a carrier.  Your freaking out is totally understandable! I was completely worried and a crying mess for the week until we had DH's results back.  I'll be thinking of you :) 
  • Thanks, everyone- I appreciate all of your thoughts and encouragement.

    We just got back from the hospital getting DH's blood taken. He almost passed out but is a trooper. I didn't know how bad he was at getting blood until today and he finally confessed. Poor guy. I told him the baby appreciated it.

  • I'm sure everything will be fine but I do understand your stress.
  • I know how you feel!  I found out when I was PG with Mason that I am a carrier too!  No one in my family has it, so we had no idea that there was even a possibility to carry it!  It was nerve wracking to wait for the results, but the statistics are encouraging.  I hope all comes out nice and clear!!
    BabyFetus Ticker 10/2010-Missed M/C at 12weeks. Baby was 8-9weeks Baby Birthday Ticker Ticker Christmas card photo2012_edited-1
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