Getting Diagnosed

This is a conceptual drawing of a Chromosome Translocation:

Have you heard of it?

Neither had I, until mid-April of this year, when I received an ominous evening phone call from my doctor, a reproductive specialist, who had been helping us over the last few months to figure out why I lose so many of my pregnancies.

“Your karyotype came back abnormal,” he said over the phone. I blanked for a moment. Then I remembered: that’s the blood test I took a couple of weeks ago, that we were almost positive wouldn’t turn anything up. I braced myself.

“You have an apparently balanced reciprocal chromosome translocation between….. ” blah blah blah, my brain fuzzed over and I searched for a pen and paper so I could make him repeat it and spell it out so I could spend the next week, month, maybe even year, researching the heck out of it. He promised to send the full diagnosis to me in an E-mail and then referred us to a genetic counselor to talk about it with us in more detail.

The basic gist, without going into crazy, sciency detail that I’m sure will make all your eyes glaze over, is this: I am a carrier of a chromosome issue. Since I’m only a carrier, it does not affect my own health. However, if I pass it on to one of our babies, it results in profound developmental problems. Any baby of ours that inherits this issue from me has a 97-99% chance of dying during pregnancy.  1 in 500 people are carriers of a chromosome translocation, but there are a zillion types of translocations out there, and they all vary in their severity. The one I carry is very severe.

He said there was a technology available to us, called Pre-implantation Genetic Diagnostics (PGD), which has to be done in conjunction with In-Vitro Fertilization, that could help us ensure the success of our next pregnancy. Or we could continue to try naturally and risk more losses.

I was shocked. I was scared. But I was also immensely relieved.

You can’t understand what it’s like to keep losing babies without an answer as to why. It’s not only tragic, but it’s also infuriating. How could no one tell us what was going on, with all of the modern medical advancements? I had been surprised over and over again in the previous 3 years, how little is known about early pregnancy and miscarriage. And how little the medical community did for us, especially after the first two losses. We were finally referred to the specialist after the third.

We had educated guesses along the way. We had misdiagnoses. I got the usual “you probably just have bad eggs” explanation multiple times. My gut told me that was wrong. And I pushed and I pushed to try to figure out what was really going on. But after the 4th miscarriage, where we thought we’d had a diagnosis and solution, but lost the pregnancy anyway, I began to accept that maybe, at the ripe old age of 30, I, for some unknown reason, already had “bad eggs”.

I had started taking a hormone that was supposed to help with egg quality. And despite my shattered heart and exhaustion from going through so many pregnancies and losses, we were going to try again and just helplessly cross our fingers. Again.

That’s where we were when I got the call.

In that moment, everything changed. And yet… nothing really changed.

We still had lost four of our very-wanted pregnancies. And now I knew for sure, their losses could not have been prevented. I was born a carrier of this condition. There’s nothing I could have done to prevent those babies from dying. I was told something similar after my first miscarriage. I was told it wasn’t my fault, and there’s nothing I could have done differently. But, as I’ve seen with other mothers in my shoes, in your core, it’s hard not to accept responsibility. Especially when no one can tell you for sure what happened. I felt, after every pregnancy, that I was this little embryo’s mother. I was the only one who could keep it safe. And I failed. I knew logically the failure was not mine to bear. But I felt it anyway. And now, with my diagnosis, I had a better understanding of why they didn’t survive. I could stop wondering if my body was toxic or poisonous. I could stop wondering if perhaps I’d taken the right supplement or medication, if things would have gone differently. Now I knew these babies’ fates were decided for them at conception, when they received my translocation, and that I did everything I could while they were around, and had no choice but to say goodbye when their time was up.

I was glad for the answers. But I was scared, also, for the implications. Would I ever be able to have another healthy baby? We had RJ. Surely if we could produce him, we could produce another. The genetic counselor and my specialist also felt confident we could conceive another baby that was not affected by my translocation. And so we decided, in desperation to complete our family without additional heartbreak, to take the most aggressive route available to us. We decided to take advantage of the technology offered to us by our doctor: PGD.

And so, with my diagnosis, although nothing had changed, everything had. Now we had answers. And we had a plan, however daunting.

You can read more about my miscarriages here and I promise to talk more about our experiences with PGD and IVF soon.

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