My husband and I were married in 2007 and we became parents to a wonderful little girl in 2010. Mackenzie was diagnosed with Ocular Motor Apraxia at 15 months old and Joubert Syndrome at 26 months old.
Mack's Mom - Joubert Syndrome & Ocular Motor Apraxia
I intended to have this post written soon after Mackenzie turned 4 but 4 months have gone by and I'm now getting around to it. Needless to say, Mack has kept me busy!
I'll start it off by sharing a video my sister made for Mackenzie. Mack definitely is "a little girl with great big plans".
Let's see if I can 'briefly' update you on the past 'few' months. We started January with going to Disney! Our good friends Kurt and Rebecca graciously offered for us to tag along with them and their daughter. Pretty certain we will have another Disney trip in our future. It was a good break for all of us and Mack still talks about it often! Definitely will be one of our favorite family vacations!!
Mack's most exciting moment happened the first night when she got to meet Rapunzel!
Stitch was definitely a favorite of Mack's & BJ's!
Mackenzie was very thrilled to get a kiss from Jake!
We had breakfast with the princesses!
And of course Mack had the best time with her good friend Olivia!
Mackenzie celebrated her 4th birthday in March- not sure where the time has gone! She had a birthday party with all of her friends before her actual birthday which was tons of fun for everyone involved! And then we celebrated her actual birthday (which is also my birthday:)) at Chuck e Cheese with just the 3 of us. Mackenzie is very proud at the fact that she's now 4. She smiles very big when someone asks how old she is and will hold up her 4 fingers.
In the middle of March we took Mackenzie skating for the first time. She got the hang of it in no time!:)
Near the end of March, Mackenzie and I went on a weekend trip with our friend Erica to participate in the Race for R.A.R.E. Race for R.A.R.E spreads awareness for all rare diseases but specifically raises awareness for Joubert Syndrome. Even though I was a tad out of shape, I completed the 5k and crossed the finish line hearing Mack yell "Go, Mommy go!" and then she gave me a big hug and told me "Good job, Mommy!".
Mackenzie enjoyed dressing up on Easter Sunday in April.
Mackenzie finished another year of preschool in May. She had a very fun year and is already looking forward to school starting beginning of September!
Mackenzie's 4 year old preschool pictures
Mack performed in her first dance recital near the end of May. We switched dance studios midway through the semester due to some conflicts, and I was nervous at how Mack would do in a new class with a new teacher. But of course she pushed aside my worries and did wonderful! Her teacher (who she will have again the fall) is one of Mack's favorite people! She is very patient and keeps an eye on Mack all while letting Mack do things fully on her own. I cannot wait (and neither can Mack!) for dance to start again in September.
Right before the dance recital
The following video is one of my favorites. Mackenzie had a difficult time when we first showed up for the dance recital. She had a few meltdowns and did not want to let go of her daddy. After a little encouragement from her teacher, she finally agreed to go with her friends and wait to perform. I was extremely nervous that once Mack got on stage, she would notice BJ and start crying for him. But instead, Mack noticed BJ, smiled so big, waved, gave a thumb's up, and signed 'I love you'. And I am so thankful that our friend got it all on video! I tried my hardest to hold back the tears, but I was pretty unsuccessful!
Mackenzie was definitely ready for the warmer weather!! At the end of May, she mastered the slip n slide!
We also introduced her to mini golf. She enjoyed hitting the ball once or twice and then eventually would pick up the ball, roll it, chase it, and eventually throw it into the hole.:)
Mackenzie attended a week long 'princess dance camp' at her dance studio in June. She LOVED it! It was a lot of fun watching how much she had grown in just a few weeks since she ended her regular dance class.
As you can tell Mackenzie has had a very eventful 4th year so far! We are already so proud of all she has done since turning 4 and look forward to seeing what more she accomplishes. We have had our ups and downs when it comes to every day challenges Mackenzie faces (that I hope to write about eventually), but amidst the challenges, we are so thankful to have such a cute, loving, funny, determined, silly 4 year old in our home!
February 28th is Rare Disease Day! According to www.rarediseaseday.org, a rare disease/disorder is defined as rare when it affects less than 200,000 Americans at any given time. Joubert Syndrome is definitely considered a rare disease by that definition! The Joubert Syndrome and Related Disorder Foundation has less than 1000 individuals worldwide in their database. That doesn't mean that there aren't more- just means that this is the number known within the Joubert community. However, I'm quite certain that number isn't too much higher.
Rare Disease Day gives me a great opportunity to educate others about Joubert Syndrome and rare diseases/disorders/syndromes in general. Did you know that there are 7000 different type of rare diseases and that 1 in 10 Americans are affected by a rare disease? (source: Global Genes) Most likely you will run into different people throughout your lifetime with some sort of rare disease.
So, what is Joubert Syndrome?
The Joubert Syndrome and Related Disorders Foundation has on their website that Joubert Syndrome is diagnosed by an MRI of the brain. The MRI shows the "Molar Tooth Sign" which is absence or underdevelopment of part of the brain called the cerebellum vermis which controls balance and coordination and a malformed brain stem. The JSRDF states that Joubert Syndrome is "characterized by decreased muscle tone, difficulties with coordination,
abnormal eye movements, abnormal breathing pattern and cognitive
impairment. It is one of a growing group of disorders
called "ciliopathies," caused by dysfunction of a part of the cell
called the cilium. Disruption of cilium function likely explains the
incidence of eye, kidney and liver problems in individuals with Joubert
Syndrome."
Joubert Syndrome is not only rare but it also has a very broad spectrum not just with developmental delays but also with the health complications. For those of you who have FaceBook you can check out a Milestones survey that Joubert Syndrome Science (JSRDF Scientific Committee) put together. Some individuals are in wheelchairs their whole life while others walk by 2 years old. Some are nonverbal and others start talking when they are toddlers. Some require assistance 24/7.
It is very important for everyone to realize that Joubert Syndrome (and all diseases, disorders, syndromes, etc) affects each person differently. Take the time to educate yourself on the differences in order to learn more about the person and his/her disorder.
For those who want to learn more about Joubert Syndrome, check out the following:
The TV show "The Doctors" had a segment on a family affected by Joubert
Syndrome. There are 5 clips that you can watch online by clicking http://www.thedoctorstv.com/main/content/Joubert_Syndrome. This is a very inspiring story that is definitely worth watching!
Below is a youtube video of pictures of Mackenzie and many of her JS friends done by a parent who has 2 children with JS.
It can be very difficult to have a child with something as rare as Joubert Syndrome. We have no other families near us who are affected by JS. Doctors, therapists, every day people know very little (if that) on Joubert Syndrome. But with that being said, it is a blessing that Mackenzie has something so rare. The Joubert Syndrome community is very close. A conference is held every 2 years, the FaceBook and Yahoo groups are very active and everyone gets to know one another, and the support is the best I could ask for. This past weekend we had the opportunity to meet a few other families affected by Joubert Syndrome. We went to the Race for R.A.R.E (or http://www.raceforrare.com/ if you don't have FaceBook). Mackenzie met 3 other children with JS and BJ and I were able to get to know other parents going through exactly what we go through. It was a great weekend! I had fun running a 5k in the pouring rain! Mackenzie definitely motivates me to do things I never thought I'd be doing! The best part of the weekend was running across the finish line hearing Mackenzie yell "Go Mommy Go!".
I will end with this: I have numerous people question me often on what Mackenzie's future looks like since she has Joubert Syndrome. I honestly don't know. Her health is very good but will she eventually have the kidney or liver complications? She is on the mild end of the developmental delays but what type of services/assistance will she need throughout school and then after school? Will she go to college and get married? I don't know the answers to any of these. But what I do know is that she is VERY determined. Even though there is a lot of uncertainty with her future, I know that she will accomplish so much in her life! BJ and I are extremely grateful for our wonderful and unique daughter!
