An Answer

We finally have a diagnosis for Gabriel.

It's a little difficult to believe that we do, especially after all these years of hearing and telling everyone, "We don't know, we have no answers."

After Sam, we were confident in trying to have more children after being told all of his genetic test results were normal. They told us we would never truly know if we were genetic carriers for something unless we had another sick baby.

Well...after Gabriel's first ultrasound, we knew we were carriers.

But for what? That's been the question that's plagued us for the last 2 months. Normal test after normal test, and we were starting to lose hope of EVER knowing.

I was beginning to have fears of having future grandchildren. What. Could. This. Be?

The pattern this diagnosis for our boys follows tells us several things, and I hope I'm able to explain this well:
1) This is an autosomal recessive disease. This means that we have a 1 in 4 chance every single time we get pregnant of receiving this diagnosis.
2) This has nothing to do with baby's gender. We have a healthy girl and a healthy boy, so even though we've had 2 sick boys, we've had the same chances of a girl being affected.
3) Our kids have a 50/50 chance of being carriers.

So, to the diagnosis. Gabriel has ARPKD. Autosomal Recessive Polycystic Kidney Disease.

What a mouthful.

And not only that, but the mutations he carries have never been seen before. So, when I was tested as a carrier 6 years ago, that is why it came back as negative. And it would make sense they've never seen this particular mutation, because both boys hearts have been affected (something not typically seen with ARPKD).

Jamey and I both had blood drawn so they can separate out which one of us carries which mutation, and eventually our children will be tested as carriers. ARPKD is rare to begin with, and happens in about 1/20,000 births. Gabriel's variant of ARPKD has never been seen, so rare can't even be used to describe it.

What does this diagnosis mean for Gabriel?

Unfortunately, nothing. ARPKD is a fatal prenatal diagnosis. Physicians cannot fix this. With underdeveloped lungs and nonfunctional kidneys, babies do not survive long after birth. Gabriel (and Sam) also has heart defects. And as open as I am to questions, this is one case where I'm really not.

"Can't they do...?" is my least favorite question right now. Not because it doesn't come from a place of empathy, of caring, of love, because I know it does. This question brings the most sadness because the answer is simply no. We've asked. They can't.

Any intervention at this point would be painful. It would delay the inevitable. It would be selfish.

Do you not think we would if we thought it could help?

Just because we've accepted that physicians cannot save his life, it does not mean we are apathetic. It does not mean we've given up on Gabriel. It does not mean we gave up on Sam.

It means we love them more than life itself.  

That may or may not make sense to you, but it does to us. As awful as this is, we have an indescribable sense of peace.

Friends of ours at church have organized a prayer session at 3pm central today to pray healing over Gabriel. He is still here, kicking me more and more each day, and we will pray until he comes home with us or goes home with Jesus. And then we will pray some more. Please feel free to set an alarm to join us at that time. Ask, seek, and knock.

He'll answer.