What would you do?

One in four. One in Four. One in FOUR. Twenty-five percent. Seventy-five percent. Risk. Gamble. IVF. Recurrence. Success. Termination. CVS. High risk. Paint the nursery. Order the headstone.

The words run through my head like a news ticker. All day. All night. What should I do?

What would you do?

In the days following our big exome reveal, the shock sustained by our hearts has settled beyond the autosomal recessive recurrence risk. I’m not sure if I would say that our thoughts have extended beyond the understanding of the genetic gamble or if I would describe it as not having gotten any farther than the sheer statistics of our situation.
If I am a carrier of a very rare mutation, a ONE IN A MILLION mutation, and my husband is another one in a million (though it is more rare than that, he is the ONLY known mutation), plus the chance that we would meet and mate, and then the one in four chance of affected pregnancy - holy crap that’s a sad statistic.
And it isn’t fair. Not that any part of this journey has been fair, but come on! I never win the lottery. Heck, I never win a prize basket at the local animal shelter spaghetti dinner. I am never the one in a million. I am never the one in a thousand. Of all the things, of all the ways to be the ONE, why do we have to each be THE ONE and then be THE ONE together?
Thinking about it makes me sad and tired. It makes me irrationally, explosively angry. It brings out a new wave of fresh grief, on a new level of grieving.

Let’s break it down: One in four for any disease is the same outcome, depending on your luck. But one in four for the ultra-rare variant that no one else in the entire world must suffer is mind-bending. I don’t know where to start in untangling this knot of reasoning in my mind.

Let’s get to the action part of this situation - what do we do? Try naturally and roll the genetic dice? It was a 75 percent chance of success the last two times and that didn't happen. The genetic counselors are careful to stress that it is a one in four chance with each pregnancy regardless of the outcome of the previous pregnancy. So, yes, one in four of affected baby, but three to one for a healthy baby.

IVF/PGD? Well, let’s take out a mortgage on the house, shall we? At $15,000 to $20,000 a pop, IVF is a not so fun way to throw money at the problem. I do want to say that it is nice to have this as an option because a lot of people don’t have a diagnosis and I do, which means I have a shot at it. Some people would pay double for this shot. This is the money that puts that addition on our house. It’s the money that sends our daughter to college. It is our retirement, which I’m guessing we will need someday. Or it is IVF, which may or may not work. A lot of ladies like me have no trouble getting pregnant naturally, but then spend $20,000 on science and it fails. Heartbreaking.

Do nothing? What if - and stay with me on this one - what if we just didn’t get pregnant again? What if after all the stress and struggle and science to get the exome with diagnostic results and we just didn’t use it? What if I get a prescription for birth control instead of a referral to an endocrinologist? I don’t think I would regret this decision in the short term. Long term is a different story. I don’t want to be 37 or 39 or 42 and figure out I desperately want a baby.

So readers - are you out there? I’m breaking the third wall and asking - if you were in my very special, one-in-a-million situation, what would you do?