Email sent July 28th:
Kyle and I went to meet with the geneticist yesterday and I just kinda wanted to give you an update. We still haven’t told our parents anything but I think we plan to pretty quickly now that we feel like we have all the information. If this is TMI, I’m sorry…
I know a lot of this probably won’t mean much to you (lots of it doesn’t mean a whole lot to me) but it helps me to type it all out.
The geneticist confirmed with us that one of us does carry the condition that Madelyn had. I think they called a balanced translocation. Basically, part of chromosome 5 is stuck to chromosome 13 and 13 stuck to 5. He kind of explained how chromosomes can be moved around and a person still ‘work’ but whatever. He told us again that in actuality there is a 50/50 chance that this could happen again. However, after talking to some specialist lady he increased our odds of having another child with a similar condition to Madelyn to 20-40% (my mind immediately goes to, “that’s an F+ “)
We talked in depth about the negative outcomes of our situation. There are 4 different arrangements that the chromosomes could possibly make; 2 should produce a normal child, Madelyn had one of the negative outcomes and then there is the inverse of what she had that would also be negative. He said that if one of the 2 negative outcomes were to happen again there really would be a 0% chance of the child functioning normally in society – and not even like severe mental retardation or something like that, like human vegetable if the child were even to survive after birth. He said he has seen/read about some cases where the person can live until 20 or so but it’s not a happy story. He also said that if we were to find out we were pregnant with a child that had this issue that if we did choose to terminate the pregnancy it would really just be a ‘timing shift’. In a terrible, weird way that makes me feel a little better and that that COULD be an option if it needed to be.
I’ve never really had a clear cut answer on the whole prochoice/prolife debate and being thrown into this situation I feel like the line has become even more blurry. Please don’t judge me too harshly.
We talked about our options and we really have 4 that all seem viable. 1. We try again naturally and hope for the best. 2. We do in vitro fertilization with pre-implantation genetic diagnosis (IVF with PGD). 3. We find out who the carrier is and use a donor sperm or egg. 4. Adoption
Originally we thought that option 1 was the best for us – why I’m not exactly sure. I’d be considered a high-risk pregnancy (and probably will no matter what we do) and would get all the special treatment insurance would allow and we would know about baby’s genetics by around week 11. But, if the chromosome did not line up and even if we found out at 11 weeks I’m not sure that I would be able to emotionally go through the same pain I did with Madelyn. Then there would be the issues of do we terminate or do we not and the emotional pain that comes with that decision and activities.
I will need to talk to my primary care physician more about it but the geneticist seems to think that we don’t have an unlimited number of times we could try this option either. My ‘lady parts’ are already weakened from my classic c-section I had with Madelyn and because weird parts of it where stretch due to the size of her head. One school of that was (and maybe still is, the geneticist differed to my doctor) that 3 c-sections and you’re done. Put this together with the 40% chance that the baby isn’t health and I don’t really like those odds…
I think our option choice now is option 2. We spoke with Kyle’s insurance yesterday and they cover 3 full tries of the IVF with PGD in a lifetime. That’s a big deal because it is freaking expensive and from what I understand nobody gets insurance like that. Our thought was if we try naturally again, we really have like a 30% chance of having a healthy baby (50% chance of getting pregnant and staying that way and then a 60% chance of baby being healthy) – I don’t really like those odds – and the outcome is not positive. Then, we’ve ‘wasted’ 2 years of time and a whole lot of emotions and in 2 years who knows if Kyle will be a the same job, and if not then we’re out of pocket who knows how much for these medical procedures. If we do this stuff now we save time, frustration, potential heartache, and money.
IVF with PGD is basically the same as IVF with an extra step (from what I understand). They pump us full of hormones and then start harvesting. Then they put things together to create embryos. After the embryos have divided a few times they run tests to determine if the chromosomes are balanced properly then those are implanted and hopefully attach.
Even this has ethical implications that until a few days ago I was really unaware of. At what stage do you think that life begins? Some say the sperm and the egg are ‘life’, or when they join together, or when they implant, or when there is a heartbeat, or when the fetus can life on its own with no help from the womb… To be honest, I don’t know the answer (and, if I determine an answer for me few others will agree with me). If I’m able to say “Ok, this is not wrong. I’m doing this with the best intentions, have my future children at heart while making this decision, and I’ve weighed all of the options and outcomes and this is the right one for me,” then I’m doing pretty good in my book.
Option 3 and 4 for us will always be options but, you know, it’s just not the same…
One thing that I think we have going for us is that getting pregnant isn’t the hard part, it’s having the right chromosomes.
I have a meeting with my doctor today then Kyle and I go back to her next week. We’ve filled out all the paperwork to see a infertility specialist and just need to fax a few things to insurance and have a few tests run before we can meet with them.
We also found out that this issue could have been in our family for thousands of years, or just the one of us could be the carrier (just like the original information we were given about Madelyn). We still don’t want to know who, of the 2 of us, is the carrier but we feel like we need to give this information to our family. We will obviously tell our parents and siblings first but also feel we need to get the word out to our cousins as well. We could narrow down just who we would have to tell (possibly) by testing our parents and if one of them came back with this chromosome translocation then we would know it was that side of the family we would need to tell. But, right now, we don’t feel like we’re willing to find out who it is and jeopardize our marriage just to lift a slight weight for someone else. That, I know, is selfish but our rationalization is that all of my cousins are much younger and years from having kids and really so are Kyle’s. Once we’re done building our family, hopefully in the next few years, it won’t matter to us who has what in their DNA and we may be willing to find out at that point and direct the concern accordingly. Right now, though, we feel they have the right to know that this could be a possibility and to take precautions if they feel they want to. I don’t believe the likelihood of a cousin having this issue is very high but I need to see if I can get that answer before we announce anything.
Obviously, this isn’t an ideal situation and I wouldn’t want anyone to have to make the decisions we’ve had to in the last couple of months. We also know that no matter what we choose to do someone will think it is wrong; there doesn’t seem to be a one size fits all answer.