So this post is really a continuation of this one. Really it's a continuation of the last two years and if you're new to the blog, I would suggest reading Our Story. A couple weeks after my surgery on March 4, I got a call from my doctor herself who told me that the genetic testing from this last pregnancy confirmed a genetic abnormality. Our next steps were to have a specific type of genetic testing called karyotyping done on both Dustin and me. This is where they look very closely at our chromosomes to see where exactly this genetic abnormality came from. We had blood drawn for that about a month ago and this morning, we had our appointment with a genetic counselor to go over the results. The result is that I am a balanced translocation carrier. This is where you'll need to put your thinking caps on and think way back to high school biology.
Typical functioning people are born with 46 chromosomes (23 from mom and 23 from dad). I have all 46 chromosomes, but they are arranged a little differently. This is something that was most likely inherited, but there is a chance it could've been de novo (not inherited). Basically, a piece of my #5 chromosome is attached to my #8 chromosome and a piece of my #8 chromosome is attached to #5. I've provided a picture for you visual learners.
I am considered a carrier, because I am completely normal (for the most part) and it does not affect my health at all. The problem occurs when my chromosomes are passed onto a baby. I have one normal #5 chromosome and one normal #8 chromosome in addition to the abnormal #5 and abnormal #8 (remember one #5 & #8 from mom and one #5 & #8 from dad). If the normal ones get selected for the baby, then we're fine and it would most likely be a healthy full term baby. If the abnormal ones (the multicolored ones above) get selected, it will result in miscarriage or severe birth defects if a baby did carry to term, because that would mean the baby has too much or too little genetic material. Here is a visual of the possible scenarios with just my chromosomes. Luckily, Dustin's tested normally. Consider the purple one chromosome #5 and the yellow one as chromosome #8.
Typically, someone with a balanced translocation will experience the following scenarios:
1. Infertility (meaning not able to even get pregnant at all). This is not our issue.
2. Recurrent miscarriage. This is where we are.
3. Live births. The chances of having a baby with a severe birth defect for us are approx. 2-4% given that my history shows that mine are more likely to miscarry if they are not healthy. In theory, the chances of having a healthy baby at some point are still roughly 50% depending on which chromosomes are selected.
So where does this leave us? Well... we could continue to try and get pregnant naturally, hoping that the baby would end up with either of the chromosomes at the end of the left arrow in the above picture. This would be a complete unknown until they could do some genetic testing in early pregnancy. Another option would be to do IVF with PGD (preimplantation genetic determination). Meaning, they would test all of the potential embryos before implantation to see which ones (if any) are healthy. This is really also an unknown, because there is no guarantee that any given cycle will produce any healthy embryos. Another option would be IVF using an egg donor or embryo adoption. Anyone that has done IVF knows very well that there are never any guarantees with it- even with healthy embryos.
This condition is something that affects approximately 1 in 1000 people (lucky me). Our genetic counselor is going to send our results along with a rough outline of our family history to a geneticist in New York who is going to take a closer look (hard to believe you can get much closer) and will tell us more specifically what our percentages look like instead of the textbook percentages (further miscarriages vs. healthy pregnancies). We could get these numbers in the next week or so.
Now that I've gotten all of the science out of the way and made your head hurt, here is also what I know. Our God is bigger than science. He is bigger than percentages and statistics. And He knew this about me from day 1. He knows what's behind us and also what is ahead. This certainly would not have been the road we would have chosen, but it's the one we've been given. We are (and have always been) trusting in Him each step of the way. We know that He has big plans for our family and will continue to remain faithful to this life He's called us to live.