I have played out the two different scenarios in my head over and over again, usually at night when I am trying to fall asleep but my mind won't quiet down. In the first, the lab tells me that there is a definitive diagnosis. All of the ultrasound findings were correct, and our little guy had Ellis Van Creveld. It's a diagnosis that is almost always fatal, and is not something that I would have ever thought I wanted to hear...but it's clear and comprehensive and I can look it up on WebMD. I can tell people "we are carriers for this syndrome, and here is a print-out which explains the details!" Knowing exactly what we are dealing with also opens up new options in terms of trying to conceive. IVF with PGD (preimpantation genetic diagnosis) is the first thing on my mind, as long as I don't think too hard about all of the injections and hormones and giant needles. I already have a meeting scheduled in 2 weeks with an amazing doctor who specializes in the procedure, and hope I don't have to cancel it.
The second scenario is the one I am more scared of. The one that I hold my breath for because it makes me feel dizzy and off-balance. "The results were inconclusive". "Unfortunately we weren't able to pinpoint the mutation". "The sample was compromised because the lab tech accidentally urinated into it". "Your luck is shitty and so are these results!" Not knowing is terrifying, because it makes me feel even more out of control. Accepting that I will likely have to end another pregnancy sometime in our journey makes me feel sick and incredibly angry. All I want is to have a healthy baby, and I may have to lose a piece of my heart every single time I try. How many times can I do that? Sometimes I can't even believe I already managed to do it once without permanently falling apart.
Whichever scenario we are faced with, it's the one we have to live in. Knowing or not knowing. IVF PGD or 1 in 4. Heartache in the best way, or heartbreak in the worst. If only that damn phone would ring so I could stop feeling so stuck.
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