(Closed) TTC dreams shattered. Need some support.

posted 6 years ago in TTC
Post # 17
1724 posts
Bumble bee
  • Wedding: March 1998

I’m so sorry to hear the news, chelles. Like others are saying, it’s worth getting a second opinion…your results do seem odd. 

Post # 18
1831 posts
Buzzing bee
  • Wedding: November 2013

@chelles07:  I do not have any advice, and my situation is totally different from yours, but I know how devestating it is to not be able to TTC when you’re ready. My thoughts are with you.

Post # 19
1226 posts
Bumble bee
  • Wedding: May 2011

So so sorry to read this.  I hope you can get some answers.  Do you have access to a genetic counselor? 

Post # 21
2863 posts
Sugar bee
  • Wedding: June 2014

@chelles07:  IVF with PGD done on the embryos is also an option. Or donor eggs, which is the route we went. im so sorry… I hope you get answers soon. 

Post # 22
3314 posts
Sugar bee
  • Wedding: October 2010

Ok.  I don’t have CF, but I’ve been studying genetics over the past couple of years as I try to figure things out for me (I have MTHFR mutations and so does my hubby).  Genes are pretty big things in the grand scheme of things.  They are typically comprised of many, many smaller parts called SNP’s.  Some genes have only 50-100, others have 10’s of thousands of SNP’s.  From a quick search on CF, there isn’t one specific SNP (though obviously there are some major players which is what they are looking for with the first genetic tests you had done), but many, many that can have a similar effect.  Here’s a page that lists at least some of them and honestly with as much being learned daily about the human genome, I doubt very much that this is a full list:  http://snpedia.com/index.php/Cystic_Fibrosis

I’d get a copy of the results from both tests.  I’d wager two things:  1. his mutations aren’t the same ones that you have and 2. that he’s got one mutation of this SNP and one of that SNP rather than 2 of the same.  I’d also definitely look into maybe talking to a geneticist and/or getting a 2nd opinion.  

*Hugs*  Praying for you! 

Post # 23
3314 posts
Sugar bee
  • Wedding: October 2010

Oh and if Darling Husband was to turn out to be a carrier and only a carrier, then it’s a 50/50 chance that he passes it down or not.  He might pass the good copy or he might pass the mutation.  My parents each have one bad copy of the c677t SNP of the MTHFR gene, but I got “lucky” and got both bad copies.  My brother only got one, so one of my parents passed down the good copy and not the mutation to him.

Post # 24
9544 posts
Buzzing Beekeeper
  • Wedding: August 2013

First, I think your genetic counselor should be of great help. I can only imagine how stressful this might be, but stress doesn’t help anything, so try not to let it eat you up with worry until your appointment.

Second, it sounds like they originally did a common mutation panel of the CF gene and that was normal, but then they did full sequencing and found something. The genetic counselor should be able to explain wht they found. It’s possible that they found real mutations, but it could also be that they found variants. 

Since you have CF, you have mutations on both your CF gene and no working copies of the CF gene, which is why you have symptoms. So you can only pass down a non-working copy of the CF gene. If your husband  turns  out to be a carrier then he has a 50% chance of passing down his working copy (kid would also be a carrier) and a 50% chance of passing down his not working copy (kid would be affected with CF). 

Also, you can be a carrier with two mutations if both mutations are on the same  gene, leaving the other gene to function properly. It’s rare but it happens. It’s also possible your husband has some sort of mild variant.

If your husband  turns out to be a carrier there are options for testing early in  pregnancy, testing before implantation using IVF, adoption or just going the old fashioned way and dealing with a possible diagnosis. Your genetic counselor can go over all these options. Let us know how it goes!!!

Post # 25
23593 posts
Honey Beekeeper
  • Wedding: September 2011

Oh my gosh sweetie, I’m so sorry to hear this news. 🙁  Thinking of you, and hope that you can get your questions answered on Tuesday!

Post # 26
1009 posts
Bumble bee
  • Wedding: June 2012

I am so, so sorry.  I hope you can get some answers.  I’ll be thinking about you.

Post # 27
2531 posts
Sugar bee
  • Wedding: March 2014

I’m sorry.

I hope whatever the outcome, however long the journey, you two are happy – you deserve it.

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