So we just had our autopsy results. When we found out our daughter was sick at 26 weeks, we were told she had severe CPAM. My doctor is one of the best in the state and she was right about everything else, so I assumed she was right about diagnosis. The one comfort I had was the CPAM wasn’t genetic. The results today showed it was not CPAM but actually emphysema. What baby has emphysema? Mine apparently. And although the doctor thinks it’s unlikely it’s genetic they want me to get further genetic testing done to “leave no stone unturned”. I am heartbroken. If this was caused by a genetic disorder, I don’t think I’d have the strength to try again. I will loose my chance of being a mother and rob my husband of the chance to have children.
Has anyone had genetic testing and it can’t back negative? I’m at my wits end and can’t believe I have to wait months more for answers. I’m absolutely gutted.

Thanks

PM

Dear PM I am so so sorry for your loss.

I think your doctor is right to try and leave no stone unturned as she wants to prevent it from happening again. Since she said it is unlikely to be genetic I would stick with that. But even in the unlikely event that it turns out to be genetic there are many options available and I am saying that as I am a cytogeneticist and deal with genetic inheritance. It does not mean (IF it is genetic because you dont know if it is, right?) you wont have a baby but that your future baby will be without the genetic condition. If it comes out to be genetic then your doctor will know what to do so that your future baby wont be affected too.

I know it is all too much to handle at the moment but please try to focus on today and when you get the results you will talk with your doctor about your next steps for a healthy pregnancy.

Sending love and strength your way xxx

PM—that’s so hard, I am sorry. As someone who has a genetic disorder (caused by a random mutation so I didn’t get it from my parents), I’d just reiterate what Mary said. Get the testing done so that you know: was it a random fluke like what I have, is it something your husband carries, something on your side? Is it a dominant gene (if yes, there’s a 50% chance of passing it on), what is it? Is it something that an embryo can be tested for so that if yes, you could try IVF and know that the embryo doesn’t have it? Sending you peace and courage.

Thanks for your responses everyone. This week has been particularly hard.
Mary, May I ask if you know of any genes that can cause emphysema? The doctor wasn’t sure but if you knew of one I’d like to ask for that one to be specifically checked .

Thanks again