.#dietzenfameveryday2014. {week 43}

Another week has gone by and it's almost November!! Crazy!! Here is our week according to Instagram :)

Day 296: Parker walking to the bus this morning. Dying over how big his backpack is in comparison to his little body :)

Day 297: Friday night fun of wandering through Costco and ending with some frozen yogurt. Living the dream ;)

Day 298: My little Halloween cuties at the hayride party. Army guy, Spider-Man, and a cute little girl :) I have given up on trying to get them to look at the camera! I'll take what I can get these days.

Day 299: Baby Elle was fascinated by looking out the window today. She was also full of gummy little smiles. Nothing better than that!

  

Day 300: I fell more in love with my minivan today! Had 4 kids in car seats driving around today and it was a breeze! Seriously makes life so much easier!

Day 301: Baby wearing is essential for being able to cook dinner with 3 kids! Survival selfie :)

 Day 302: My little beauty!! 

.dietzen dictionary: joubert syndrome.

Before having a child with special needs, my knowledge of medical terms, characteristics and procedures was almost non existent. I had never had surgery or even been in the hospital, so I had a lot to learn once Parker was born.

I decided that since I sometimes feel like I should have an honorary medical degree due to having to learn so much about genetics and medical conditions with the boys, that I would share what I have learned on the blog as some of you might be curious and find it interesting. Each Wednesday   I will post on a new topic, word, definition, etc. related to special needs and medical conditions that we deal with on a daily basis so you can have a general understanding of this crazy world that we live in.

I don't think I have ever done a post specifically on what Joubert Syndrome is. I know I reference a lot of the different aspects of it, but today I wanted to give an overall definition of what JS is and how our boys are affected. I am going to explain it in medical terms and then explain it how we interpret it, or explain it in the way we have come to understand it.

Joubert Syndrome (according to the website) is:

"an autosomal recessive condition, in which an affected individual has mutations in both copies of a gene, preventing the gene from working correctly. Almost always, parents of an affected individual are both unaffected carriers, because they "carry" one nonworking copy of a JS gene and one working copy of the gene. When both parents are carriers for mutations in the JS gene, there is a 1 in 4 chance with each pregnancy that the baby will be affected. It is important to note that the severity of a JS individual may be quite different between individuals, even within the same family."

Basically what this means is that Nick and I are carriers of one of the same mutated gene that causes Joubert Syndrome and our boys both got the affected mutation causing them to have two affected genes. So even though every person walking around has mutated genes in their DNA, if they have one working copy of the gene, they are not affected by the mutation. The fact that Nick and I both have the same exact mutation, then met each other, got married and had children together is extremely rare!! If you remember back to biology class, it is like the figure below for the genetics. Each pregnancy has a 1/4 chance to be totally unaffected and not a carrier; a 2/4 chance of being unaffected but a carrier; and a 1/4 chance of being affected as well as a carrier. 

(B=unaffected gene; b=affected gene)

It's also interesting that they make note that the severity can vary within the same family, even though they would be affected by the same gene. This was part of the reason why we could not tell immediately whether Lane was affected or not. Parker seems to be more severely affected than Lane, and struggles a bit more, especially with the fine and gross motor skills. Lane is two years younger than Parker but can do certain physical things better and more coordinated than Parker and has hit his physical milestones much quicker than Parker did.

Joubert Syndrome is characterized by:

the absense or underdevelopment of the cerebellar vermis (an area of the brain that controls balance and coordination) as well as a malformed brain stem. The most common features of JS include abnormally rapid breathing (hypernea), decreased muscle tone (hypotonia), abnormal eye movements, cognitive impairment, and the inability to coordinate voluntary muscle movements (ataxia). Physical deformities may be present, such as extra fingers and toes, cleft lip or palate, and tongue abnormalities. Kidney and liver abnormalities can develop, retina deterioration and seizures may also occur. 

When we first went to the neurologist with Parker when we first had our concerns, he noticed three things that led him to believe Parker had a brain malformation of some sort. He noticed the abnormal eye movements, the low muscle tone (hypotonia), and his inability to coordinate movements. Because of these three markers, he scheduled the MRI to get a clear image of his brain and get a diagnosis. Because of the lack of development of the cerebellum and the malformed brain stem, when looked at on an MRI, it looks like a molar tooth (see image on right). If you were looking at a typically developing brain, there would not be the molar tooth (see image on left). The image on the right is almost exactly what both Lane and Parker's MRI looked like. Pretty interesting to see their brains and see exactly where the malformation is.

(Image from UW)

After Lane's MRI

While the boys are affected by most of the things that characterize JS, not all apply to them. Both Parker and Lane have abnormal eye movement (Parker much more so), low muscle tone (the reason why they are delayed in crawling and walking), and have trouble with balance and coordination (ataxia). We are fortunate that they do not have rapid breathing issues, physical deformities, and so far have not shown any signs of organ or eye involvement. Another huge blessing is that the boys have very mild cognitive impairment. While they have been delayed in talking, they are very smart boys and have tested within the normal range for age appropriate cognition/intelligence.

Yearly ultrasound for kidney and liver

Yearly ultrasound for kidney and liver

Treatment and Prognosis:

While there is not "cure" or way to prevent or treat JS, there are many things that we do to help combat their struggles and give them a chance at a bright future. Treatment is symptomatic and supportive-meaning as issues arise they are addressed and therapies and things are done to support and help progress the individuals.

Our boys are currently in physical therapy, occupational therapy, speech therapy, feeding therapy (Lane), horse therapy (Parker), and special services preschool (Parker). We also have a nephrologist (kidney specialist), ophthalmologist (eye doctor), neurologist (brain doctor), hindbrain malformation team (University of Washington), Early Intervention coordinator, Special Services coordinator and pediatrician that we meet with on a yearly basis. Seeing these specialist helps us to monitor their development and any potential issues that could occur at any time.

Foot orthotics for support while weight bearing

Yearly eye exam to monitor retinas

Yearly eye exam to monitor retinas

The prognosis for the future is hard to define because there are so many factors that play into it. Because the boys biggest challenge is their muscle tone and not necessarily their mental development, their futures seem to be pretty hopeful. Since JS is not a progressive disorder/disease, once they gain a skill, they will not lose it and will only continue to develop that. For example, once they start walking they will only get stronger and build upon that. So we are hopeful that they will not be limited by their physical disabilities that we experience now. There will be things that need to be modified but they have the mental ability to achieve a lot and we believe that they will be able to live independently someday.

Our Perspective:

Because of the rarity of Joubert Syndrome and the chances of Nick and I both being carriers, we truly believe that we were chosen to be Parker and Lane's parents. Sure there is all the science and genetics involved in it, but we believe God knew what he was doing when he put Nick and I together. We have a huge opportunity to help people understand the special needs community as well as how to deal with and walk through unexpected circumstances. The struggles and abilities that the boys struggle with seem huge and daunting at times, but things could always be worse and we are thankful for how much progress they have made so far. I am always learning something new and it has given me a passion to purse nursing or pediatric therapy as a second career in the future. 

Some reference sites for more information:

http://jsrdf.org/

http://www.ninds.nih.gov/disorders/joubert/joubert.htm

http://depts.washington.edu/joubert/joubertsyndrome.php

If you ever have any questions or things you are curious about hearing and learning about, just leave a comment and I would love to address it in the future!!

.#dietzenfameveryday2014. {week 42}

 Since January 1st of 2014, I have been posting a picture every single day to Instagram. The pictures are nothing special but they are little snapshots into our daily lives. I got the idea from Shay over at http://www.shullfamily.blogspot.com/ and I just love how you can look back over an entire year and see an image from every single day. It kind of catalogs the year in a way.

I decided that since the blog usually is tackling the more deep and complex issues that go along with our unexpected journey, sharing these images every week would be a good way to show a little glimpse into our lives and what our typical days are like. 

So below are the images from week 42 of this year and some fun pics from the last week :)

Day 289: Just cruising around with my walker. My baby boy is gonna be two in a few days and looking at this picture he looks 5!! How do they grow up so fast?!

Day 290: Me and my girl catching up on Grey's Anatomy and Parenthood while the boys nap :)

Day 291: Happy 2nd Birthday to my sweet baby Lane!! Two years ago you came into the world in a dramatic fashion and captured my heart forever. Your sweet smile, {mostly} calm demeanor, and determination make our lives so much better. We love you sweet boy...today we celebrate YOU!

Day 292: Can't believe 3 1/2 weeks have gone by so fast with this little girl in our lives!! Loving our life as a family of 5!!

Day 293: Back at it!! Feels so good to run and break a sweat again. And the perfect temperature and the beautiful fall colors made it such a peaceful run!

Day 294: Lane has become quite mobile in the last few weeks and has quickly learned how to destroy the house! This mess was made while I was nursing Elle and this is only a small portion of the destruction he leaves in his wake! My house may never be clean again but this is a good problem for us to have :)

Day 295: Daddy and his girl snuggling today and Lane wanted to join in.

You can follow me on Instagram at annadietzen to see new posts everyday.

.nuggets of hope.

As I have mentioned before on the blog, sending Parker off to school this year was terrifying for me. I was filled with so much fear and anxiety of what this school experience would be like. 

As a mom, I am fiercely protective of my kids, especially with the boys special needs. I am always asking questions and involved in everything they are doing- I want to make sure that their needs are met and that their best interests are top priority. I think a big part of it is me feeling like I can still control their circumstances and protect them from any harm or hurt.

One of my major anxieties about Parker starting his new school was the fact that he is only one of three special needs kids in a class of twenty, and he is the only one with a physical disability/delay. The kids his age are starting to notice differences and I have a huge fear of Parker being bullied and excluded. Because he has a walker, cannot walk independently, and can't physically keep up with his peers- I lie awake at night sometimes with a pit in my stomach of the things kids will do or say to him.

I want to be there to guard his heart. 

To protect him.

To make sure his feelings don't get hurt and that he is accepted and loved.

But I know that I cannot do that. And I have to let go.

And the process of letting go and trusting that God has it under control is something I struggle with. 

And constantly surrendering these fears of any of my kids being hurt/bullied/excluded is an area of parenting that I need growth in. I just cannot bear the thought of any child being hurt.

This would be the case if I had typically developing children, but even more so since the boys have special needs and are "different" than most other children.

I literally pray every single day after Parker gets on the bus that the Lord would protect him and allow him to make friends and be accepted. Every. Single. Day.

Today we got a note sent home from school that brought me to tears.

The note read: 

"Anna-thought you'd like to know-Parker was playing on the grass with 4 other boys and they taught him how to roll (barrel) down the hill! He was also crawling on the grass a lot (thus the green knees)! He was having a blast!"

This was such a huge reminder to me that there really is good in the world and that God has my sweet little Parker in His hands. That He is protecting him and bringing nice kids into his life that include him and play with him.

And these are the things that might seem so minor to other people, but to us are HUGE! And we celebrate them and shed tears of joy!!

I know the future could hold some painful and tough times as Parker gets older and the differences become more noticeable, but little moments like what happened today give me so much hope that things will be okay!

.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.