Confirmative - 1g

I didn’t know how relieved I would feel.

I just got the call — our first son shares the same two mutations as our second son. The test was confirmative — both boys had congenital disorder of glycosylation 1g. My matching bookends match completely, tragically.

When I think of my boys, I think of them as individuals. I dream that our first son was blonde and fair-skinned like his sister, but imagine our youngest son with his father’s Greek complexion and dark hair. I see our oldest son as being a bit stocky, and our youngest as being a bit wiry. I think of them - my sweet oldest and my stubborn youngest - as always together. I love them both so individually, but in a “my kids” sort of lump category. I see them almost everywhere I go. I love them with all my heart.

I sit here with mixed emotions. I feel bad for my relief, but what if (WHAT IF!?) that test had been negative? What then? Another exome? Another wait? More tests, more DNA? More paperwork? My relief comes from the answers, which do nothing to bring my babies back to me. But there is something wonderful in being able to say the word “glycosylation.” To wrap my head around it. To look at it as hard evidence of a killer. To know that even if my daughter is a carrier, she will have to look long and hard across this world to find another with a mutation on the same gene.

It is relief. Sad, sad relief.