This is a topic I haven’t really written about yet for a couple of reasons. First, we didn’t know what the results were going to be and I didn’t want to go into much detail about chromosomes and genetics if there was no reason to do so. Second, I wasn’t sure if I wanted to share the results if they were bad. But the results arebad and I found that there is, again, a limited amount of non-scientific articles related to this issue. Very few blogs and forums exist from a personal standpoint on this issue. And since the purpose of this blog was to provide some insight to people going through similar situations, it should be shared. It’s going to be somewhat of a technical post, but in order to understand what happened and what may happen in the future, it’s important to understand what is going on. I surprisingly don’t have any trouble wrapping my mind around this, but putting it into words is a differently story. So here goes. My apologies for the lack of organization that this post is inevitably going to have.
I got my answer. It was fate. It was pretty much bound to happen. I’m not being a pessimist; it’s just the way things are.
When we found out about Benjamin’s unbalanced translocation of chromosomes being the underlying cause of the CDH as well as a myriad of other issues that would ultimately lead to his passing, we had our blood drawn to have a karyotype analysis done. The purpose of this was to see if one of us had a chromosomal abnormality that had a hand in causing Benjamin’s chromosomal abnormality, or if what happened to him was de novo – a “fluke.” The results would be due in two weeks, so we waited. And waited.
It took five weeks to get the results. As the time passed, I became very anxious. Was it taking so long because the results were bad and they were confirming them, or were they so amazingly perfect that they were afraid they were missing something?
As it turns out, I am a balanced translocation carrier.
Wow. That was harder to type than I thought it was going to be. It’s a heavy statement because it really, truly changes absolutely everything.
What does this mean? It means that when I was conceived, my chromosomes (4 and 7) broke apart (as they often do) and reattached to the wrong pieces. All of my genetic information is there, and so I do not have any disabilities or medical issues, but still, my chromosomes are abnormal. Here is a diagram of what happened:
But how did this happen? Sometimes balanced translocations are genetically passed down, where a child inherits the balanced translocation from one of his or her parents, and little-to-no problems exist until that child grows up and tries to have children. So when the cells divide, they just keep dividing and creating more just like it with the balanced translocation present because that’s all they have to work with. Those cells go on to create muscle, organs, flesh, and ultimately, a whole baby. Sometimes when a parent with a balanced translocation procreates, everything with that child’s chromosomes is normal. Sometimes there is a chromosomal abnormality and the pregnancy spontaneously aborts. And on rare occasion, babies like Benjamin are born alive.
When I found out about the translocation, three things hit me all at once:
1. What about my siblings? Could they be affected? Will they have to deal with this?
Back up just a bit to when I was created, because that would be the moment that ultimately led to this whole thing and provides some clues to the answer to this burning question. My balanced translocation is what’s called mosaic, meaning some of my cells carry the translocation and some do not. Of the 30 cells they analyzed, 20 of them were normal; 10 had the balanced translocation. What this means is that at the VERY beginning, my chromosomes were fine. At around 6 cells (give or take), something went wrong with one of them. All of the cells kept dividing and creating more like themselves, and this one had a balanced translocation. So it created more just like it. And those cells created more just like them, in addition to the ones that were normal.
What this means for my siblings is that this was likely a new issue in me. My mother and father didn’t pass it on to me; it just happened in me. And it’s not because of anything my mom did when she was pregnant with me. As I said, chromosomes break apart and reattach quite frequently, but usually, they reattach the correct way. In my case, they didn’t. But my siblings are not at any higher risk of having a translocation than any other person out there. That was a huge relief.
2. So, I did this to Benjamin. I gave him my damaged chromosomes, which led to this happening to him.
There is so much unfounded guilt associated with this. I mean, it’s not like I decided, at 6-cells-big, to play pin the tail on the chromosomes. And if I had, I should have cheated and peaked through the blindfold because man, I was completely off. But it’s just the way I was made. Still, I inadvertently passed this on to my son, and as a result, he died. With that kind of heavy guilt hanging on my shoulders, it’s a bloody miracle I’m still standing. And I know that I couldn’t help it. I get that, I do. But there’s a part of me that wants to make sense of everything that happened. Something to blame it on so that I can focus on that. And that something is in me; it runs through my veins and is embedded in my body. And there isn’t a damn thing that I can do about it. This issue is 26 years and four months in the making.
EDIT 3/1/2012: Dr. K from CHOP called me several weeks ago about this part. She wanted me to know that what happened was not my fault; it was just the way things happened. I promised her that I would update this part of the blog to reflect the fact that I know it wasn’t my fault. It was just an emotion I was experiencing at the time, when this was all very fresh.
3. What does this mean for the future?
Here’s the part that I was torn on wanting to hear at all. If this happened to Benjamin, what’s the chance that it will happen again?
This balanced translocation doesn’t affect me physically and it probably never will. It only really matters when it comes to procreation. Because the translocation is mosaic, some areas of my body may have a higher concentration of cells containing the translocation than others. (At least, that’s as it was explained to me.) Who knows how my ovaries were created and how riddled my eggs are with the translocation. All we know is that the egg with which Benjamin was conceived had this issue within it and it has the potential to happen again.
So we have some percentages that are higher than I’d like them to be. They are as follows:
– 41% chance that future pregnancies will end in miscarriage or stillbirth.
– In addition to that, there is a 10-15% of Benjamin’s situation repeating itself (born living, but will pass away).
– This means that there is a 51-56% chance that future pregnancies will result in death at some point, in some way.
Sure, there is the option of Preimplantation Genetic Testing (like IVF, but a bit more involved), which is so expensive that the thought of us ever being in a position to do this makes me laugh out loud. So that’s out.
What are we going to do, then? I don’t really know. For the most part, we want to try again. But for how long, and at what cost? I cannot deliver another baby just so that he or she can die. That’s not something I want to do to another life.
Right now, I think our plan is to begin researching the process and cost of adoption (if anybody can give us any leads in this area, please contact me), and we’ll see what happens in the meantime. From the moment we knew we were going to marry, we knew we wanted to adopt. In our plans, though, adoption was in addition to our own biological children. Things change.
I try to live by the logic that if something is wrong and you can do something about it, do it. If you can’t, then don’t worry about it and move on. Sometimes it’s harder to stick to that logic, and lately those times have been quite frequent. In just 60 seconds, I can go from, “This is the way it is and that’s it,” to being on fire with anger and disappointment that it’s this way, and back to accepting the way things are as fully as I possibly can.
You see, this isn’t a situation where we can just accept it and move on. There is no “getting to the other side of this terrible thing.” This terrible thing is and will always be. It will be of concern until the day I get my tubes tied (if I do) or my ovaries run out of eggs, whichever comes first.
Also, we are now in Arizona. We made it safely and in one piece, which is surprising after the many bumps along the way. Including a minor accident. We almost settled down in Kentucky in order to avoid getting back on the road.
Okay, not really. But it crossed our minds. It’s actually quite pretty this time of year.
Thanks for reading. If something I wrote is unclear or you know that it’s incorrect, please let me know and I’ll edit.