What is Joubert Syndrome?

.miracle baby.

After spending our week at NIH and completing all the test for Parker, we left feeling armed with knowledge and resources and very hopeful about the future. We came home exhausted, but excited about Parker's future and what the next few years held for him. My focus was on Parker and future babies weren't in the picture for a while...and I was completely at peace with that.

I felt like God was really gracious to us while at NIH and any fears I had leading up to that week were lifted away. It was all so positive and I really felt the prayers of others lifting us up. This was our life and we were making the most of this journey.

A few weeks after we got back, I looked at the calendar and realized I was late. You know...that monthly gift all of us women are blessed with...yeah I had missed it in January and was a few weeks late. I didn't really think much of it, but thought to just put any fears aside I would go buy a pregnancy test. I took Parker with me to the dollar store {yes, I am that cheap} and bought a few just to have on hand.

I took the test while Parker was in the bath and immediately the negative line showed up, so I went back to washing up Parker and finishing his bath. After I cleaned up the bathroom, I went to go throw the pregnancy test away and stopped dead in my tracks.

There was another line.

My dollar store pregnancy test :)
2 pink lines.

It was very faint so I wasn't sure what it meant. But I also remember reading that it is very rare for there to be a false positive.

I immediately got a pit in my stomach and started to cry. To be honest, the tears were mostly fear based.

We had just come off this week where I was finally at peace with joubert syndrome and what the future looked like for Parker, and I wasn't quite ready to face the possibility that we could be having another with JS.

In the past, when Nick and I talked about our future biological children, we knew that when we got pregnant again the baby would have a 25% chance of having Joubert. We were totally okay with that and ready to love whatever the Lord would bless us with.

But the moment I saw the positive pregnancy test, reality hit me hard. 

This was it...no turning back now. 

Nick was busy working long hours for tax season and didn't get home until about 8pm that night. As soon as he walked through the door, I timidly pulled up the picture of the pregnancy test on my phone and showed him the 2 pink lines.

I had no idea how he was going to react. Would he be excited, scared, surprised, upset? I had no idea.

Once it registered with him what this meant, he got the biggest smile on his face and wrapped me in a huge hug!! He was so excited and couldn't stop smiling.

I started to cry again. Expressing my concerns. Having 2 kids, 2 years apart with the potential for special needs in both. How were we going to afford this? Can we do this without family around?

But he just looked at me and told me everything was going to be okay...and that there was a baby growing inside of me. Clearly not our plans, but God has allowed us to get pregnant even if we weren't trying. Just further showing us that all of this is out of our control and we are so blessed to be able to have a new life added to our family.

I finally allowed the excitement that, yes, there is a baby growing inside of me. And if this baby is anything as amazing as Parker has been in our lives, then we are the luckiest people in the world. If Parker could bring us so much joy, how much more joy would another baby add?!

I waited a few days and then went out and bought a digital pregnancy test at the grocery store to confirm that yes, indeed I am pregnant. It took about 2 seconds before the screen read "pregnant" and I think I was grinning from ear to ear.

The first image of our miracle baby
 After the inital shock, I just couldn't stop being thankful that God made this decision for us. That we didn't have to spend nights writing down pro's and con's of having another biological child versus adopting. etc. Unless you have experienced something like this, I don't think you can fully understand the weight of that decision. I had dreaded having those conversations later on down the road, and God answered my prayers and made it so I didn't have to!

How we told our families that it was a BOY! Opened an envelope together with my family on FaceTime and Nick's family in person. Gotta love technology!
This pregnancy has been an emotional rollercoaster, but we are estatic to welcome another baby boy into our family in October. From countless ultrasounds, genetic counseling, dr appointments, etc. We have been all over the spectrum as far as emotions go on any given day. But as soon as I feel those kicks in my stomach, or see that beautiful baby on the ultrasound machine, I can't help but think we are the luckiest family in the world.

No guessing here...it's a BOY!
Profile image of our sweet baby
I cannot wait to watch this journey continue and have this story unfold. The plans I thought I had for my life have so drastically changed, yet God has met my needs and answered my prayers along the way. Even those mornings {yes, all the way until about 26 weeks} of throwing up in the mornings, reminded me of the blessing that I so do not deserve, but have been given.

17 weeks pregnant
22 weeks pregnant
26 weeks pregnant
For now, I am soaking up my last few months with my first born baby boy and am anticipating the arrival of our new baby boy. I can't help but dream of their future together as brothers, best friends, and a family of 4.



A little glimpse into my life with 2 boys....I see lots of cars, food and messes :)

My dreams are coming true and I feel so blessed that I get to be a mama to 2 boys.

2 comments:

V said...

Anna, my heart is so full for you and your beautiful, growing family. i absolutely love seeing glimpses into your life and how the Lord has been ever faithful to you. It's amazing to see His hand in all of it. I'm so proud of you! Seriously, i know that sounds funny, but i am just so proud of you. Big hugs!
-Val Gonzalez

Stacey said...

Such a great post, Anna! We are all so excited for you, Nick, and Parker! :) What a blessing! Lots more kids in the mix this year... so much fun!