Tuesday, April 23, 2013

Looking back, moving forward



The last two weeks have been good to me.

I woke up this morning and realized that I have not had a panic attack since E-Day. The panic used to wake me up in the middle of the night — that crushing feeling in my chest and the certainty that I wouldn’t get through the night. This feels like a milestone to me, and I haven’t had many milestones since my second son died.

Yesterday my genetic counselor called to follow up. Good news: Baylor College of Medicine will not only test my first son’s DNA in an attempt to confirm the glycosylation killed both boys, but they will do it for FREE. All I have to do is sign the paper and write a $25 check for DNA transfer.

Of course I had to ask the question no one wants to think about: WHAT IF my first son’s DNA shows no glycosylation? What then? What if that really teeny tiny deletion on my husbands half of his genetic makeup isn’t there? Then what?

“I think that is our fear,” the GC said. “But we will cross that bridge if we get to it.”

How quickly this mama’s mind jumps to genetic disaster!

I also received my summary of care from the clinic, which sort of briefs up the total visit with genetics in case I forgot anything or have any questions. These summaries are fantastic for me. I keep them and read and re-read them because they are, in a way, like the maps through this journey. They show all the dead ends we have met in “going to the wall.” This last summary shows that we reached out and touched the wall and got answers. It is the X that marks the spot.
In the summary, there is a note that my first son’s DNA (tested via microarray) clearly showed my Chromosome 22 mutation (rare, but discovered), but not my husband’s, as it was too small and completely undiscovered and not on the map of things to look for.
Now I can take some very small comfort in the fact that it is discovered now, that someone out there who may only get to the microarray testing of Chromosome 22 will have the benefit of the discovery — a benefit we did not have. If this had been discovered sooner, we would have known what happened to our first son at the microarray and had answers nearly a year earlier.
I’m here to tell you that at my advanced maternal age of 34, a year makes all the difference in the world.

So here’s to another two panic-free weeks in the Ohio sunshine (I hope). And thanks to the ladies who commented on my last post. A writer is only as lucky as the readers who read, yes?

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