What is Joubert Syndrome?

.elyse frances.

It's been about a week now that our sweet baby girl decided to join our family. I couldn't imagine how much I would love her, but in just her short time on earth she has changed our world. We are absolutely head over heels in love with her and our family is now finally complete.

My pregnancy with Elyse was pretty good in the sense that there were no medical issues and everything went as well as could go, but I spent the entire 40 weeks sick and throwing up. It just kind of became part of life and I learned to deal with it, but by the last month I was pretty much ready to be done. Having a huge belly, being sick and tired, and having to carry both Parker and Lane around was very challenging. I kept trying to remind myself that it is so much better for her to continue growing and developing in my belly, but as we kept nearing the due date with no progress I was starting to get discouraged. 

In true Dietzen fashion, our kids are always overdue, and Elyse was no exception. I went to my 40 week appointment and we scheduled an induction for Thursday the 25th. I was trying for a VBAC (vaginal birth after cesarean) so I did not want to be induced, but I only had my parents in town and help around for so long and the longer we waited on her, the less time I would have help around.

On Wednesday the 24th, I kept having contractions throughout the day, but I had been experiencing contractions like that for a few days so I didn't think much of it. Around dinner time the contractions started to get stronger and then about 8:30 pm I could tell that they were consistent and getting stronger. 

Being that I was overdue, I knew this wasn't a false alarm and was getting excited about the fact that baby Elle was on her way to making her appearance into the world! We packed our bags and headed to the hospital about 9:15 p.m.

We got checked into triage and I was 4cm dialated but the doctor didn't think my contractions were close enough together and wanted me to walk for a while before they admitted me. He even told me I could go home if I wanted. Ummmm....no thank you sir, I have had 2 babies before this and I know I am in labor!!! Despite my frustration with the doctor, I walked around the halls as I was breathing through contractions every 2-3 minutes. 


After about 45 minutes they checked me again and I was at 5.5cm dilated and they finally admitted me and got us to a room. I had originally planned on trying for an all natural birth, but also went in with a realistic approach that if I needed an epidural or a c-section that it was okay. Due to the fact that I was having a VBAC, I had to be monitored at all times and had wires and monitors everywhere! I was bed bound so they could make sure everything was okay (no stress on the uterus for fear of uterine rupture) and at that point I decided on the epidural. I also get extremely nauseous when I am in labor and so the epidural helps with allowing my body to labor and not work against itself.

I got the epidural at about 12:45 am and from that point just kind of labored and waited. As with my other two births, the epidural worked but I could still feel contractions somewhat and would have to breathe through the really intense ones. Because it was the middle of the night and since it was a VBAC, they didn't want to break my water or force labor to move along in any way.

The night seemed to drag along and we tried to rest as much as we could. About 4:30 a.m. my water broke on its own and I started to dilate a lot faster. I started to get pretty nauseous at about 6:30 a.m. and threw up quite a few times from then on until she was born. Definitely one of my least favorite parts of labor!!

At about 8:00 a.m. I got really sick and the only way I could function was to keep my eyes closed. The nurses thought I was sleeping and just kept leaving me alone. Turns out I was fully dilated and in transition and she was starting to come out and that's why I was so sick! 

The doctor's changed shift at 8:00 a.m. and the doctor who delivered me came in to check on me around 9. I was throwing up pretty intensely when she came in and so she decided to check me. As soon as she tried to check me, she could tell Elyse was on her way!

They got the room all prepared for delivery and after 2 pushes she was here!! Born at 9:22 a.m. weighing 7 lbs, 11 oz and 20 inches long.


I sobbed when she was finally born! I was so overjoyed that she was here, felt such a peace that our family was complete, so thankful that the VBAC was successful, and just so happy!


There was a team of NICU nurses in the room when she was born in case there were any alarming symptoms indicative of Joubert Syndrome, but thankfully she was breathing great, screaming loud (girlfriend has a set of lungs!!), and there was no reason for concern.

We still don't know if she has Joubert Syndrome and the only way for us to 100% find out is to do an MRI, but since she hasn't shown any signs or symptoms and is still so little, we have decided against sedating her and doing the MRI for now. We are praying that as she develops, she continues to grow big and strong and confirm to us that she is unaffected.


It is such a fun dynamic to add a girl into the mix and I am loving all the accessories and fun things that come along with having a girl. Parker and Lane are smitten with her and just love her so much. Parker especially really understands what is going on and is constantly asking to hold her and be close to her. He is insistent on being the best big brother and his behavior has actually improved as he is trying to be such a good example to his little sister. I'm hoping this new attitude and behavior lasts for a really long time!



Lane is having a little harder time adjusting to no longer having all the attention, but he does seem to really love Elle. He will crawl over and lay his head down next to her and gently pat her. Pretty much the cutest thing ever. I'm hoping that as he learns to communicate better, his frustrations and behavior will get better and the transition to no longer being the baby will be quick.



Being a family of 5 is so crazy and fun and exciting!! Life is going to be quite chaotic for the next few years and my hands are definitely going to be full, but we love these little lives that are filling our home with love, laughter and lots of memories!

My recovery has already been so much easier than after my c-section with Lane. Since I labored until 9.5cm with Lane and then had to go into an emergency c-section, recovery was pretty rough. This time I find myself forgetting that I just gave birth and I really do feel so great. I am just so thankful that the VBAC was successful and that I have been able to recover so quickly.



It's amazing how much greater God's plans are for our lives than we can imagine. Just earlier this year when I found out I was pregnant I was so scared I couldn't even fathom the fact that I was actually pregnant. It took weeks of crying and prayer to really come to grips with what this meant for us. But fast forward to today and the extreme blessing this little miracle baby is to us and I can't help but weep with thankfulness.


Thankful that God knows better.

Thankful that he chose to bless us again.

Thankful for the 3 beautiful children that we get the privilege of raising.

I feel like the luckiest mama in the world.



2 comments:

Anonymous said...

Congratulations, she is so cute!!!

Anonymous said...

Congratulations. such wonderful news.