Post # 1
As some of you know, if you remember me, I have Cystic Fibrosis. Darling Husband and I have been TTC for 15 months now. At the beginning of our journey we got a genetic test done for him to see if he was a carrier or CF. That test came back negative. Fast forward to November of 2013 my RE wanted a more in depth test done that checks for every mutation of the gene. Well I just got the results back yesterday(they had to redo the test o their end because of lab error) and we were surprised by what they had found. He apparently has 2 mutations of the disease.
When I was speaking with my RE on the phone, she suggested looking into IVF(with donor eggs/sperm) or adoption. I have an appointment with a genetic counselor on Tuesday and they should be able to explain the situation and all of our options better.
I called my CF nurse practioner to let her know what they found, however she said that it doesn’t make sense to her, since they found 2 mutations of the gene. If you have 1 mutation of CF you are considered a carrier, with 2 mutations he would be considered having CF as well. Which he obviously does not. I am just so confused and don’t know what to do.
I spent all last night crying. Darling Husband has been very kind and even drove 10 miles last night to get me my favorite frozen yogurt. I’m confused, mad and just feeling lost.
Dh and I talked and decide that if it came down to it, we would rather adopt than spend 20,000$ on IVF which would not be a for sure thing. I just feel a little crushed.
Post # 3
Oh honey my heart goes out to you right now 🙁
Those test results do sound a little strange. Could you get a second opinion? Perhaps the doctor read your results as his?
Post # 4
Gosh, that’s tough 🙁 I’m so sorry to hear that.
Assuming he is a carrier, what are the chances of you having a) a carrier and b) a completely unaffected child?
I don’t know a heck of a lot about CF, but it may be an illness that limits you adoption wise (they can be tough about health issues).
For most people, IVF is successful….eventually. Are there any other fertility issues that may limit your success with IVF?
Post # 5
I’m so sorry to hear your sad news. Is there any chance the lab result might be wrong? It just seems strange that his genes say he should have CF and he doesn’t, especially since he came back clear the first time.
Anyway, im really really sorry. I can’t imagine how you’re feeling right now. Sending my thoughts and prayers.
Post # 6
I’m not sure what “RE” stands for, but I think you need a second opinion from a genetics expert. I would look into finding a doctor who specialized in genetic testing and maybe even CF if you can. Look at Wash U med school (assuming you live in St Louis like it says). Good luck!!
Post # 7
@chelles07: Of course we remember you! I’m so sorry to hear that. It definitely sounds a little weird. Are they sure the the tests were right? Would it be possible to run them again to confirm? I know that probably seems excessive, but shit happens and mistakes get made. When you’re talking about something so important that it could dictate TTC/IVF/Adoption though, and your other doctor finds something really strange, it might be worth it to make absolutely sure the finding is correct.
I only know a little bit about genetics and basically nothing about CF. But does the mutation have the same chance of coming up that the non-carrier alleles do? And would a mutation combine with your alleles actually always force the CF out?
Regardless, this is so hard, I’m so sorry. It’s ok to be crushed, just take your time to process. Lean on Darling Husband, who I’m sure is also crushed, and together you guys will reorient your plans and move forward when you’re ready. I really believe this will happen for you one way or another.
Post # 8
I’m so sorry that you have this hard news. I hope that you can find out what this means for the two of you. You will be in my thoughts.
Post # 9
@chelles07: I’m sorry you are going through this 🙁 I would suggest talking to a genetic counselor. But, more importantly I would also suggest having the test performed by a different laboratory to confirm or refute the result. Especially since there was apparently a lab error in the initial test, and the second set of results seem dubious. May I ask what lab performed the testing? There can be a wide range of quality among clinical labs…they also should be willing to write off the cost of testing if you are able to demonstrate that their results were inaccurate.
Post # 10
@chelles07: talk to a genetic counselor before letting yourself get too upset. I saw a geneticist this pregnancy for a whole slew of reasons and it was nice to talk to someone who could actually explain percentages and likelyhood and all of that stuff to me in a clear way.
Post # 11
@chelles07: My heart sunk when I saw that you had posted this. I am so, so sorry to hear this news, sweetheart. I know you must feel devastated right now. I wish I had words of comfort, but I know that right now nothing is going to make you feel better but giving it time. I still fully believe that you will be a mother, whatever the path to get you there may be. I’m sending all my positive energy your way and I’ll keep you in my prayers. *HUGS* XOXOXOX
Post # 12
I was so sad when I saw the title of this post but my heart dropped when I saw it was from you. You were on the POAS boards when I first started out there and I missed seeing you after you left (though I hoped it was for happy reasons). I am so, so sorry – I wish there was something better I could say. Take the time you need to process and come to grips with all this new info. I’m hoping the genetics counselor will be able to clear up the conflicting info you’re getting (and hopefully for the better). Hugs to you.
Post # 13
@chelles07: oh hun, I’m so so sorry to see you posting this. I know you must feel devastated right noa, and no amount of worda will take the hurt away. You WILL be a mother, it might not happen the way you planned, but it WILL happen! You will be in my thoughts and prayers.
Post # 14
I am so sorry to see this update. I always check up on you, I think about you often. I will keep you and your hubby in my prayers!
Post # 15
I’m so sorry to hear this news. I really hope that they figure out if he is or isn’t a carrier or what your other options are. I’ve kept you in my thoughts and I will continue to!
Post # 16
@chelles07: Aww sorry. Can see why you feel crushed. The options I’m sure will become clear.