Yesterday, the geneticist called with my test results. It turns out, I am also a carrier of Smith-Lemli-Opitz.
Apparently 1/30 people are carriers. The chance that two carriers would reproduce together is 1/900. When you add to that mix the 75% chance each pregnancy will not be affected, the odds become small that a baby will be born with this genetic disorder. Somehow, we were the 1/900, and then Madelyn was the 25%. Of course, Madelyn wasn’t tested directly so they can’t say with absolute certainty she had Smith-Lemli-Opitz Syndrome (“SLOS”). However, as we are both carriers and all the symptoms matched, we can be very reasonably sure.
For those of you who (like me) don’t remember how genes work, here is a bit of a refresher. Every person has recessive genes and dominant genes. In our case, we each have one unaffected dominant gene, and one recessive gene with the SLOS mutation. Our children will get one gene copy from each of us. So, a baby could get the dominant gene from each of us, the dominant gene from me and the recessive gene from Nathan, or the recessive gene from me and the dominant gene from Nathan. In each of these three cases the baby would be unaffected, which is where the 75% chance comes in (25% chance for each of the three). Then, there is the 25% chance the baby will receive a copy of each of our recessive genes, and in this case the baby will be affected. Most people never know they are carriers of something until or unless they have a child that is affected. Things can be passed down for centuries of family history and never appear. This site has a nice chart that shows what I have just described.
On one hand, I am glad we know a reason. I no longer have to wonder if it was the ham I ate on Easter Sunday, or toxoplasmosis from my cat, or the face cream I was using before I realized some of the ingredients weren’t recommended during pregnancy. I can no longer blame something I did during pregnancy. However, I cannot say I don’t feel at all responsible. Our genes were harmful to our baby. I realize there is no way we could have known beforehand, but it still is a bit disturbing.
On the other hand, I hate what this means for future pregnancies. Although it is good to know this information, it means the problems with Madelyn were not a fluke.
A few options exist that can be done in conjunction with in vitro fertilization (“IVF”), but we’re not sure about them. One option (PGD) involves pre-screening of embryos and implantation of embryos that are unaffected. However, any embryos that are affected would be destroyed, as they would not be eligible for donation to other families. Another option (CGH) involves the screening of eggs before using them to create an embryo. This option is more appealing to us, but I do not know if SLOS is on the list of things CGH can pre-screen.
We also have the option to adopt. We could adopt a baby that is already born, though waiting lists are usually long for this. Our next pregnancy could also come through embryo adoption/donation.
PGD, CGH, and embryo adoption all would be used in conjunction with IVF. So our next step will be to make an appointment with a reproductive endocrinologist (“RE”) to explore our options, though I’m not sure when we will do that.
Heather – I didn’t go through any PGD with our fresh cycle, but I can tell you absolutely anything you want to know about a fresh or frozen cycle. (I don’t have any experience with donation, either, but know the science behind it.)
A great book that I would recommend about IVF is this: http://www.amazon.com/Couples-Guide-Vitro-Fertilization-Everything/dp/0738208973
It has info on surrogates, fresh cycles, a bit (if I remember correctly) on PGD… it’s a great beginner’s guide.
I’m thinking of you, and sending best wishes your way as you prepare for this next step. If you’re in an area where you can shop around, make sure to go to the CDC’s portion of their website for Assisted Reproductive Technology and look up success rates for clinics in your area.
Hugs and prayers!
*****BIG HUGS****
There are really no words.
I am sorry for what this means for you and Nathan, but what a wonderful age of techology we live in. You were not only able to find your answer, but you still have the opportunity to carry a baby should you wish it. Focus on the Family did a wonderful segment on Embryo adoption last week. You may still be able to get the podcast. You know we don’t always know or understand God’s plan, but we can always rest assure that His plan is the best one. I know you and Nathan will make wonderful parents convientional or otherwise. You’re amazing people and have so much to offer a child. Keep your chins up and know that we are all praying with you for the very best for your family! All Our Love!
Heather. huge *hugs* coming your way. I know this was not the result you were looking for, but I do truely believe in one way or another you will have a sibling for Madelyn whether biologically or not.
I can’t say I understand a lot about IVF, but I am willing to listen and be here if you talk about it. I am sending thoughts and prayers your way so that you may be at peace as you make your next decisions.
Wow. It is hard to know what to say, this news is both good (to know what happened) and disheartening. I am glad you have gotten some answers, though. Will be praying for you as you make the next decisions that you need to make.
I am so sorry… I know you were hoping for different news. Even though this brings answers, it also brings questions and new pain.
Thinking of you and sending many prayers your way.
Oh Heather, I am so sorry. I know this is not the news we were all praying for.
I don’t know the right words to say right now, but I do believe that knowledge is power and now that you know what you are up against, you can prepare yourself for what to do next.
I am sending you lots of love and hugs and please know that I am cheering you on every step of the way.
Sarah xoxo
Heather, wishing you lots of love and strength as you and Nate continue to walk along this difficult road. I hope that the right answer is easily found as you get more information about the options available. Thinking of you…
I am so sorry about the results of the testing. I was so hoping that it would not be a genetic issue. But, at least you were able to have some answers. I’ve never heard of embryo adoption but at least you have some options. You and Nathan are wonderful parents and I can’t think of anyone more deserving of that role than you guys. I know God will lead you in the right direction. Your strenth is amazing. I’ll keep you in my prayers.
Your cousin,
Christina (Christy)
I second what everyone else has said. I think it’s SO unfair that you got the short stick on this one. It just sucks and I’m really bummed for you.
I understand what you mean about feeling partly to blame, but I hope that feeling is fleeting. Because you’re not. After all, without your genes you never would have known Madelyn…. That is not intended to make you feel guilty for your feelings, only my attempt to find something good from this whole thing even if I’m failing miserably. I think about you two and Madelyn everyday. I don’t know why her story had such a profound impact on me, but it did…. {{{{ BIG HUGS }}}}
as you said before, we WILL have our babies together, no matter what. i know this.
xoxo
Heather – just wanted to play “tag” with your comment back on my blog. I’m so glad if anything was at all helpful. Please, please let me know if you need to talk about anything, have questions, need to vent/scream… I’m so sorry the news was bad, but am glad that you have a set of directions. I always feel better if I have a road map, you know?
Always thinking of you.
I am glad that you finally know but it has to be hard too in a way. I hope that you can find the road that you want to take. I will say a prayer that God will guide you.