Mackenzie is 4!! ~ Disney, celebrating a birthday, Race for R.A.R.E, dancing, and so much more! :)

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!

Rare Disease Day - Joubert Syndrome

I posted some of the following information in last year's post ("What is Joubert Syndrome") from Rare Disease Day:

February 29th (February 28th on the years there isn't a leap year) 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 has a very broad spectrum and affects people in different ways. We were able to see this clearly when we attended the conference this past summer (Joubert Syndrome 2013 Conference) and met several of the JS families. 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. Joubert Syndrome also can cause health complications (two of the major complications being of the liver and kidneys). There have been numerous individuals to lose their lives to the health complications of Joubert Syndrome. 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.
    
How can you help?

We would not be where we are now if it wasn't for our JS family and the Joubert Syndrome and Related Disorders Foundation. The JSRDF is a wonderful support to all those who are affected by Joubert Syndrome. The foundation helps with research, conference expenses, outreach, keeping families connected, and so much more! If you are interested in supporting Mackenzie and her JS family then please consider making a tax-deductible donation by clicking on the following link: JSRDF Donate

Another helpful group has been the University of Washington Hindbrain Malformation Research Program (UW Research Website & UW Research FaceBook). At this past conference we were able to meet several of those on the research team. Mackenzie was accepted into this research program soon after she was diagnosed with Joubert Syndrome, and I have nothing but great things to say about UW. They work extremely hard in their research and provide families with an extreme amount of knowledge on Joubert Syndrome. If you would like to donate specifically to their research then you can donate through this link: UW Donate

Joubert Syndrome isn't something I ever imagined having to deal with as a family. I still receive questions from several people about Mackenzie's future, her health, etc., and I'm not really able to answer them. But what I do know is that she is a very determined girl who won't let anything get in her way. Although I wish she didn't have to struggle with JS, I am thankful for all of those we have come into contact with and the friendships that we have gained (and will always have)! The support of our JS family is like no other along with the support we receive daily from our friends and family. This isn't the life BJ and I imagined, but I wouldn't change it. Mackenzie has blessed us tremendously and I'm quite certain she will continue blessing us!