Trying to conceive with balanced translocation (Cathryn's story)

Getting knocked down and getting up again (and again)

I’m writing this the day after receiving devastating PGT results for the fourth time. My name is Cathryn, and my husband, Evan, and I have been trying to have a child for four years now.

Photo by Paréj Richárd on Unsplash

Let me start by saying I carry a balanced translocation—this is a unique and brutal factor that can lead to infertility that I don’t see much awareness for, so I’m hoping my story can shed some light and help others feel less alone. For those who don’t know, there are many types of balanced translocations, and each type has a different “success ratio.” Having a balanced translocation means I have a chromosomal rearrangement, but no missing or extra DNA, which is why I’ve fortunately been able to live a healthy life. However, it also means that every time an embryo is created with one of my eggs—whether through natural conception or IVF—there’s a ~70% it will miscarry due to having an unbalanced translocation, meaning there is missing or extra DNA. This 70/30 ratio is specific to my translocation; other translocations have different ratios, but the gist remains the same: Having a balanced translocation makes it uniquely hard to have a successful pregnancy, in that the odds are really stacked against us.

I was fortunate to already know this before Evan and I started trying to conceive, as my mom carried this balanced translocation as well and suffered 10 miscarriages (yes, she’s amazing). She also successfully gave birth to both my brother and me, proving this really is a numbers game, but it’s possible to make it to the other side. Many others in the balanced translocation community don’t learn they carry this until much later, making it a shocking and heart-wrenching diagnosis.

All that said, there’s no way you can really know how difficult this experience is until you go through it. When Evan and I started trying, we knew we’d likely have some losses before successes, but again, we figured it was a numbers game and would just ride the storm because these were the cards we’d been dealt, and we couldn’t change them.

We began trying naturally and were lucky enough to get pregnant a few months in; sadly, it ended in miscarriage at 6 weeks. Several months later, I got pregnant again—only to again, end in early miscarriage. Another several months later, I got pregnant for the third time, which ended in early miscarriage too. Needless to say, this was soul-crushing, but I thought, “At least we’re getting pregnant. We’ll beat the odds eventually. Keep going.”

Then the pregnancies just stopped. Negative test after negative test. It was wild—why was this happening? What had changed? I did have a few chemical pregnancies, but nothing that ever implanted or made it past a super faint line for a day or two. My doctor had me do a saline ultrasound and an endometrial biopsy, and she had Evan do a semen analysis. All came back normal. She had us both start taking some supplements that could only help, but no significant issues were spotted. I was told there’s no reason I shouldn’t be able to get pregnant again.

Once a full year passed with no success, we decided it was time to try fertility treatments. We started with IUI: the first one ended in a chemical pregnancy, the second and third failed. The next logical step was to try IVF. As scary as this was, I felt an immense sense of relief knowing we’d be able to use PGT testing to spot whether an embryo was unbalanced. I truly thought, “This is it. We’ll be able to pinpoint a balanced embryo to transfer and won’t have to worry as much about miscarrying. Let’s go!” That was not how things went.

While we are very blessed to have been able to create embryos from every cycle (I know many people struggle to make it that far), we haven’t been able to make more than two embryos at a time. And with the balanced translocation being such a hard numbers game, it was quickly apparent that IVF wouldn’t be as easy a solution as we thought. Across three cycles, we created five embryos, all of which came back unbalanced.

Our fourth cycle gave us two embryos that were graded as high quality, and that made us quite optimistic. We waited a grueling two weeks for the PGT results (that wait is more painful than any injection, if you ask me), which finally arrived yesterday, as I mentioned at the top of my story—those embryos came back balanced (!!), but with other chromosomal issues that made them unusable. I literally couldn’t believe what I was hearing. We finally created not one, but two balanced embryos, only for them to both have other abnormalities? I couldn’t hold myself back from crying as I responded to the genetics counselor. I was in shock and disbelief. Would this ever work for us? Is there yet another issue on top of the translocation that hasn’t been spotted, or is this just seriously terrible luck?

Sadly, these results were a reminder that just because we have this awful challenge with the translocation doesn’t mean we’re immune to other, more “random” chromosomal issues that can happen to anybody. And that is a cruel, tough pill to swallow. I sobbed in pure agony for about an hour right after that, while Evan, the incredible gem he is, held me the entire time as he processed and grieved the news himself.

So here I am today, still processing this insane news and grieving. I can’t believe how much we’ve been through. I can’t believe we haven’t caught a break yet. I can’t believe how many other women have gotten pregnant and had babies (some more than once) in the time we’ve been trying for one.

And yet, I still have hope. It’s getting harder and harder to see the light, but somehow I haven’t lost my hope. Maybe it’s because of my brother’s and my very existences. Maybe it’s because my balanced translocation has a ~30% success rate. Maybe it’s because we finally did create balanced embryos this past cycle. Maybe it’s because my doctor has told me multiple times she believes this is possible for us, but just doesn’t know how long it’ll take. Or maybe it’s because I feel deep in my gut that I’m meant to be a mom. I believe this is meant for us. I know we deserve and can do this.

Every time I’ve started miscarrying or gotten that dreaded “Unfortunately, I don’t have good news…” phone call, I’ve sunken into a deep sadness where I feel utterly hopeless and ready to give up. But not less than 24 hours later, I always find myself ready to try again, knowing it’s possible for it to work. I’m sure many women in the infertility community can relate to that, and I think that’s pretty incredible. We’re a special breed. While I know none of us would wish this upon anyone or ourselves, I believe we are all so much stronger because of it. Our patience, resilience, and courage get tested in ways we never could have imagined, and that many other people will never know. This has made my marriage unbelievably stronger as well—our love and support for each other have grown exponentially, and we’ve learned that we can truly go through the trenches together. For that, I am eternally grateful.

So while I don’t currently have a successful pregnancy or live birth to end this story with, I’m sharing other successes that I hope others can see in their journeys as well: learning that I can give myself hundreds of injections; discovering how brave I really am; a genuine recognition of all I have in my life to be grateful for; and most importantly, my ability to keep fighting and never lose hope.