Balanced 13/14 Robertsonian Translocation or how I learned about genetic abnormalities (A DH blog Part 2)

As I said before, we both took the miscarriage of our twins pretty hard. For me, I always wanted to have twins. My dad was a fraternal twin (from two different eggs), and I remember growing up we had two sets of twins at our high school. Definitely not your everyday occurrence. Sure it adds lot more work, but like Kristi says, it's a instant family.

After the news, we were given the choice of either letting Kristi miscarry naturally, or to do a Dilation and Curettage (D&C). Well, given that it could take several weeks for it to occur naturally, Kristi wanted to do the D&C. My sister had the procedure after one of her MCs. The good thing is that it removes any tissue left behind that might make getting pregnant again harder. So that's what we did.

One byproduct of this procedure is that they do a routine test on to see if there were any issues. Turns out there was as they found genetic abnormalities in both girls, called Trisomy 13 (more on this later).

So Kristi and I both had blood work done (Kristi's office had to search high and low for the right vial). My doctor didn't even have any of that "cap" so I had to go directly to the lab. Shows you how often they do that test! Kristi's test came back right away as normal, as hers was sent to Quest Diagnostics. I ended up going to LabCorp, who was inundated with lab work. It took over a month to get the results back (must everything involve agonizingly longs waits?) and it showed that I was the one who had the genetic abnormality. Something called Balanced 13/14 Robertsonian Translocation.

***WARNING! SCIENCE CONTENT AHEAD!***
So what is Balanced 13/14 Robertsonian Translocation? Well, it took a bit of Google searching, and reading about it a few different ways before I finally "get" what's going on. So each of our cells are made up of 22 chromosomal pairs that make up genetic code (along with either an XX or XY pair that determines our gender). During normal reproduction, the man and the woman send over half of their chromosomes along with either an X or a Y. (In the case of men, we always send an X chromosome during mitosis). This results in a new set of 23 chromosomal pairs with half of the genetic material from each parent. Pretty slick for maintaining diversity in the human population, eh? Well, in the case of a Robertsonian Translocation, one of the chromosome fuses to another during this process. In my case it was Chromosomes 13 and 14. It turns out that I have the correct amount of genetic material, which is why I was born a healthy baby. But, when it comes times to reproduce, problems arise. See, I have normal 13 and a normal 14, and then I have one that is fused out of both the 13 and 14. If I send my normal 13 and 14 to Kristi to pair up with her normal, we have a 100% genetically normal child. If I send *just* my fused chromosome with Kristi's normal pair, we end up with a carrier, like me. A completely healthy baby, with all genetic material, but will face reproductive issues later in life like we do now. If I send my normal 13 or 14 with with my fused gene, the baby will have extra genetic material. This is called Trisomy. If I only send either my normal 13 or 14 (since the fused gene gets "split" it only goes half the time), the baby ends up with not enough genetic material. This is called Monosomy. Best way to think about it is that Mono = 1 and Tri = 3. The times I send 3 genes to Kristi's 2 gives too much, and the times I send 1 gene to Kristi's 2 gives too little. I've included some pictures to show you what I'm talking about:


13/14 translocation Image


14/21 possible outcomes from reproduction. (just substitute 13/14 for me :)

***END SCIENCE CONTENT***

So we met with a Genetic counselor, and she mapped all the above out for us. We also did a "genetic history" of our family. What's interesting is that my sister has also had a history of miscarriage. She's miscarried three times. It's highly likely that she too is a carrier. My mom knew of three, maybe 4 miscarriages that my Grandmother had. Also, she remembered that my uncle, and some cousins also had them. You can see how this gets passed down from generation.

At first, this was hard news to deal with. If you've been reading the blog, you'll know that Kristi wants nothing more than to be pregnant and have kids. And she chose me to spend her life with and here I was denying her the one thing she wanted more than anything else. (After finding the love of her life, of course. That part was easy :) You want to be able to provide anything you can to your loved ones and I basically blamed myself.

But after time passed, I realized that this was actually good news. How so? Well, the hands down, absolute worst part of infertility is not knowing what's wrong with you. Going to the doctor, getting poked, and prodded, etc. and still not being able to have a baby drives you nuts.

But we do know what's wrong and even more important, there is no reason why we can't get pregnant. When we do get pregnant, we might miscarry more than most. But if you don't miscarry, over 99% of the time you will have a perfectly healthy baby. (We miscarry when things go wrong, and 4 out of 6 times, things will go wrong for us. It's very rare to carry a Trisomy or Monosomy baby to term). My sister, if she is a carrier, has had two beautiful healthy girls.

We still had the eight frozen eggs from our first retrieval, and knowing my problem, they could actually do genetic screening on them before another transfer. So with the much appreciated help from my parents and Mavis, we attempted a Frozen embryo transfer. The normal transfer went well, in that we got pregnant, so being able to screen for bad embryos seemed like the winning ticket. Back she went on the drugs, with me doing the shots again. And remember that intramuscular shot I couldn't do? Well, turns out Kristi's progesterone was low, so she needed to get it via a shot this time. With a REALLY BIG NEEDLE!! And at $75 a pop to have a nurse do that everyday was out of the question. So I manned up and did it myself, checking to make sure I didn't hit a vein and all. It was so crazy long, but it had to be to get into the muscles. And we made it to our second transfer. The scheduled day arrived, and we went to the doctor and literally 30 minutes before the procedure we had the good news: 2 of the 8 frozen eggs were normal/carrier. (The genetic test they do can not distinguish between them, as they have the exact same genetic material). Naturally, we were excited. I got too look at the eggs under the microscope. From my untrained eye, they looked good.

Another anxious two week wait went by and then we went in for a pregnancy test. Alas, we weren't pregnant. It was weird, but I just felt like that was the time. But, unlike last time, I had "steeled" myself against getting too excited. So finding out we weren't pregnant wasn't as bad this time. Still not good, but not soul crushing. Kristi, however, took it harder than I did. She also thought that this was the time. (In fact, it's probably good to always think positive). You've heard part of her story about from a previous blog, and if she wants to talk in more detail about it, it'll make for an upcoming post.

Kristi of course wanted to try again right away, but we just didn't have the financial resources for another IVF (for which our debts still remind us). And I was ready for a break. A break from the mental hardship of fertility treatments. It's a stressful situation unlike anything else. And knowing we *could* get pregnant, we didn't need to start looking at alternatives, like adoption. So with Kristi pulling out every reserve of patience she has we both agreed should go back to the natural method for a year or two. If we still had issues during that time, we would look at doing another IVF to help things along (with the hope that we'd have saved up money by then or at least freed up enough debt on the cards to fill them up again).

And so, we settled back into the natural routine, and I felt like a weight had lifted off my shoulders. No needles, drugs, temping, or any other fertility travails. Just enjoying being a married couple like the first months were.

And as irony would have it (and if you read the last post you'll see where this is going) the *very next month* we got pregnant. How crazy is that. So crazy that it'll have to wait for another blog to talk about. (Took me long enough to write this one, lol)

Kristi and I are both excited and hopeful that this is one of the 2 out of 6 times we'll have a healthy baby! More to come...