1 in 4

I don't even know how to start this. I wrote an entire blog post just moments ago and hit save instead of publish, because while I had intended to write about test results, I wrote about upcoming milestones and my momma heart. Maybe I will post that one in the next couple of days, but I realize more and more that I simply have not been wanting to write about "the end."

The answers we've been waiting for.

The answers we weren't sure we'd ever get.

If you've read my previous posts, we have had multiple genetic tests run on both Sam and Gabriel. None of them had come back with answers after Sam died and so we were told to try again. We would only ever really know if we were genetic carriers for a disease if we had another sick baby. 

We've had 4 pregnancies. And we've never truly gotten to experience the joy and excitement that comes with that 20 week ultrasound. "Boy" or "girl" has never been the most anticipatory part for us. It's been "living" or "dying." 

I don't want to write about this. I'm tired of my own story.

At the same time, I desperately want to share.

I have so many complicated emotions surrounding everything about this year, but one that has been surprising, unexpected, and just downright awful has been shame.

Guilt and shame are trying to squash my words. There is no reason I should be feeling those emotions.

I just do.

We had an amniocentesis when Gabriel's ultrasound showed enlarged, cystic kidneys back in January. Our doctor was certain she had seen a case like ours before and had 2 gene tests she wanted to run.

One came back negative. The other, positive for polycystic kidney disease (PKD).

Or so we thought.

I never wrote about this, but for much of this Spring, we were living with the idea that Jamey was a sole carrier for what is called Autosomal Dominant PKD or (ADPKD). It's *fairly* common.

But it meant kidney disease in the next decade or so. It meant our kids may also suffer from it.

I pictured over and over nursing my entire sick family through their deaths. Or through kidney failure and transplants. It sounds dramatic, it sounds unlikely.

But listen. Two of my kids are dead. That was unlikely too.

To say the Spring was a roller coaster is an understatement. I felt like we were in a tiny boat in the middle of the ocean during a hurricane. Every single time we got a chance to breathe, another wave would crash down and we would just hold on for dear life trying to ride out the storm.

Just a month after Gabriel's birth, we finally met with a genetic counselor. We were supposed to meet her sooner than that, but Gabriel was born the week of our first scheduled appointment. We drove into downtown Chicago and met in a tiny office at Rush University Medical Center.

We were expecting to talk about polycystic kidney disease and the next steps we should take in testing Jamey and the kids. We thought she would recommend kidney ultrasounds and blood tests.

Instead...

"I don't think Jamey has PKD. Yes, the results came back with changes in his gene, but those changes are labeled "uncertain significance." I do not believe that this gene is to blame for your boys' birth defects. I have another test that I would like to run on a panel of 100 other genes. It takes 6-8 weeks. I believe you are both carriers for an autosomal recessive ciliopathy."

I know that last bit is pretty technical, and I'll try to make it easier to understand. It was WAY better news than Jamey being a carrier for ADPKD. Instead of Jamey being a carrier for a dominant disease that he would likely suffer from later in life, this would mean that Jamey and I both are carriers for a disease that ONLY affected Sam and Gabriel. It means that our 5 and 2 year old may potentially also be carriers for this disease, but not affected. And the likelihood of them marrying another carrier one day and having sick babies too is less than 1%.

I called our counselor this last Friday, curious if she'd gotten the test results back. 

"Yes, I have. We have an answer. I'm sorry though, I just got the results back and have not had time to prepare for your questions. Would it be at all possible for us to talk on Tuesday? I'm really very sorry to make you wait, but I want to be thorough."

Of course, I understood. But it was a very. long. weekend.

Tuesday came, and Jamey was home so we could do the call on speaker phone. She explained the disease, the gene affected, the way the gene copies were mutated, and what this means for our family. I'm not ready to share the name of the disease, mostly because I'd rather not have people Google and share with me their thoughts on it. 

But we do have a diagnosis. So...what does that mean for us?

It means that for the time being, our family is done. We have a 1 in 4 risk of this happening with all future pregnancies (and we unknowingly ran that risk every single time we got pregnant). Mira and Edward so happened to hit the healthy 3 in 4 odds. 

1 in 4 might seem like a small number, but we've hit it twice.

Jamey recently shared his fears with me.

"Kaila, I'm afraid if this happened again...you wouldn't recover."

As much as that hurt to hear, I appreciated his honesty. And I think he's right.

For now, I'm dreaming about the future of our family. I recently had a conversation with friends about plans that may or may not ever happen. "Just let me dream," we'd said. Even if we never have any more children...

just let me dream.

Yes, there are so many other ways to become parents again.

I'm not ready to talk about it right now.

Let us grieve the loss of our ability to have more children naturally. Please, don't at least us. Just let us feel this sadness. This added loss to the loss of our second child.

And even with all this new information, we still have more testing to cross all the t's and dot all the i's. We have our answer for Sam and Gabriel, but next Jamey and I will be tested individually to find which one of us carries which gene mutation. 

This will never truly be "over" for us. There are parts we will be able to get closure from, yes, but these results impact the future of our family forever. While we are happy to have gotten this answer, we are still very grieved that this is our reality. All we ask is that you be here for us in this. Lean in closer. Give extra hugs. Send extra love. And pray. 

That's all we need. <3