Cause and confirmation

I met with our Genetic Counselor yesterday. My first son’s genetic test to confirm glycosylation is due on Monday from Baylor.
My high risk obstetrician was in the room and she asked if there was any chance my first son’s DNA might be a mismatch to my second son’s exome.

I probably should be more concerned about this, to be honest. I don’t know what the implications on my life and sanity would be if that test came back and my first son just didn’t have congenital disorder of glycosylation 1g. What of our big “answers” then?

But looking at the big picture, I think our GC is right. This test is confirmative. Both boys had the same or very similar defects. Even without looking below the surface to the chromosomes and genes, you can see the way the brothers matched each other: The neural tube defects with a Dandy Walker variant in one, Dandy Walker in the other; the heart defects with both having ASD and VSD; the recessed jaws, the renal problems...
Of course my first son also had hand and foot deformities. My second son had a severe diaphragmatic hernia.
But when I think of my boys, I think of them as bookends — a tragic matching pair. I agree that this test is confirmative. If it exists to do anything more, it exists to prove me wrong.

The days are warm and cold here, a perfectly flawed northeast Ohio spring. It was raining through the sunshine on our drive to the Cleveland Clinic yesterday. It has been 58 days since our exome diagnosis. I kept the widget on my phone running - who knows why. It keeps my mind on my boys.

My boys. Represented in my life by my brief memories, a memorial necklace around my neck and a handful of genetics reports. On Monday I’ll get to add another to the pile, to my first son’s box of memories and momentoes. Wherever these angels of mine are, I hope they know the impact they had on this world, the difference I hope we all make to someone with the prenatal diagnosis of 1g. I will not let their legacy be as small as the micro deletion that killed them.