What is Joubert Syndrome?

.elle's first year.

In just about a week, my baby girl will be turning 1!!!

One year old.


I remember driving to the hospital breathing through my contractions and trying not to panic at what was about to happen. Not necessarily having the baby (although since I was having a VBAC there was a little fear for that) but trying to wrap my head around the fact that everything was about to change. 

We didn't know if she would have special needs or not. I didn't know how I was going to adjust to three children and what that would look like with them all being so dependent on me. I just remember telling myself to let it go, and my job was to listen to my body and work through labor and that God had the rest under control.


I remember when she was born (finally!) and looking into her eyes and just crying. I had never been so emotional after having a baby. I think partly because the VBAC was successful and that was a huge prayer of mine, but also because I looked into her eyes and just KNEW in my heart that she was unaffected.


And trust me when I say that I would love her the same regardless of a diagnosis or not, but knowing I wasn't going to have to go through the emotional and physical journey of another diagnosis and the rollercoaster of a journey that it can be. It was the greatest relief I think I have ever felt.
It's a little bittersweet that she is entering toddlerhood and no longer a baby, but mostly it's sweet. This first year with her has been a truly amazing year and so healing for our family. She is absolutely a blessing from the Lord and completes our family in all the ways we never imagined!


For the first year of both Parker and Lane's life, my heart was continually breaking and heavy from the missed milestones, the doctor appointments, the diagnosis and the unknown of what that meant, the acceptance of unrealized dreams, and adapting to what life was going to look like.

I tried to enjoy watching them grow as much as I could and I really genuinely celebrated everything as it came, but there was still an underlying sadness as we came to accept that things were different than what we had imagined.


Babies change and grow and develop so quickly in that first year that as most kids were starting to sit up on their own, mine were still laying on the ground; as most kids were beginning to walk, mine were just starting to hold their head up. And each milestone that they didn't meet was another moment of grieving the obstacles they face.

That first year of their lives was a lot of joy, but a lot of tears and sadness too. They are the absolute joys of my life, but trying to process the unknown of what life is going to look like for them and waiting to see how they are going to grow and develop is kind of excruciating in some ways.



I remember when Lane turned one year old, I just sat in our bedroom and cried. It was a harsh reminder to me that he was no longer a baby and that I couldn't really ignore the fact that he was so behind. Yes we already knew he had Joubert Syndrome and he was making progress, but now strangers would notice how behind he was and that opens up a whole other can of worms. 

He was no longer a "baby" and still working on his milestones like all the other kids his age, he was 1 and all his peers were walking and starting to talk and it was clear that he was different.


And I'm not sure why that was such a big deal to me, or why turning 1 was kind of traumatic in this special needs journey, but it has been with both boys. The emotions and worries that go along with special needs parenting is tough to explain unless you've walked that road. 


This first year with Elyse has been so easy. Watching her meet milestones and grow and develop as a "typical" child would has been healing to my heart. Knowing that I am not going to have to worry about all the things I worry about with the boys helps put my heart at ease. And it's been just amazing to watch the relationship that the boys and her have and know that God had her life planned out to be in our family already even when we didn't know it.


And I think because of the greater perspective I receive from being Parker and Lane's mom, I have enjoyed parenting a baby again because I just don't worry or care about all the "should's and should nots" that other moms think need to happen. If she eats fruit before vegetables when she starts solids she is gonna be OKAY, if he happens to have some gluten instead of organic quinoa or whatever but WHO CARES, and she will sleep through the night eventually but SHE IS JUST FINE if she still wakes up a time or two. Because those things really DON'T MATTER!!! And I wish I had learned that sooner.

Maybe it's the third kid and you learn from your mistakes, or maybe it's that I have been gifted an unbelievable perspective from the boys' diagnosis that all that really matters as a parent is that we love them. And those little things really in the grand scheme of things don't make a difference in the person that your child becomes. 


Elyse is easy and relaxed and goes with the flow and I think that's because that's how I parent with her. I was so consumed in what type of parent I should be with the other two-especially with Parker since he was my first, and then trying to merge that with their special needs and it was so hard. I constantly felt like a failure.

And this time around...this time I feel like I'm doing a pretty dang good job being a mom to Elyse. And not only her but to her two older and amazing brothers. The little things don't matter and that allows me to be better at doing the things that do.


Teaching them to be kind. Teaching them to love others. Helping them to know that we love them unconditionally. Teaching them to be brave (although they teach me this way more than I teach them).

So now with Elyse turning 1 next week, I am just so grateful that she is unaffected and we got the opportunity to experience watching a typical child grow up. But not just because it's easier in a lot of ways, but because she's helped us realize just how amazing and resilient her brothers are, that parenting is tough no matter what the added complications, that every person has their strengths and weaknesses, and that God is a good God and gave us 3 perfect children.


I can't wait to celebrate her first year of life and look back at all the great memories so far and how much we have grown and learned from her being added to our family. 

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