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
Showing posts with label Joubert Syndrome. Show all posts
Showing posts with label Joubert Syndrome. Show all posts
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!
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!
Mackenzie started 3 year old preschool in September. She goes 2 days a week from 9-12 at a local church preschool she started last January 2013. She began this fall with an aide, but after a month we gave a trial run to see how she would do without an aide. She did totally fine so she now attends school on her own! Since Mackenzie is 3 years old she has the possibility of receiving services through the public school. I started the assessment process this past month. I've held off until now due to Mackenzie doing so well with outpatient therapy and in the private preschool. We may continue with where we are but it will be nice to see what the school system has to offer. Mackenzie's 2 preschool teachers state that she's doing so well and is very social (which was one of my main concerns with Mack mainly due to her speech delay/being hard to understand). So for now, we are keeping Mack where she is since we've seen so much progress!
Mackenzie had a handful of doctor's appointments from August until November. She had her yearly bloodwork and ultrasound on her abdomen (all came back fine!) and check-ups with the neuro-opthalmologist and developmental pediatrician. Mackenzie was great during it all! She didn't shed a tear and did all that the doctors asked her to do. She even stayed still while getting her eyes dilated (the man dilating her eyes was very impressed by this- so was I!). Mackenzie appears to be very interested during the appointments. Maybe she will be a future nurse, doctor, researcher for JS?!
In October Mackenzie mastered going up steps on her own!
Mack enjoyed Thanksgiving and Christmas. We spent some time at the beach (which Mack loves!), and of course Mack enjoyed opening up all of her gifts on Christmas!
2013 was a great year that our family will always remember. We met so many JS families at the Race for Rare in February and at the JS conference in July. Mackenzie has grown so much in several areas. At the beginning of the year Mackenzie was walking but still have difficulty especially outside. Now she is running all over the place. I took the following video while we were at the beach a couple of weeks ago. I'm amazed at the progress she's made since a year ago when we were at the beach!
Mackenzie is talking more and more each day (she never stops!:)). She works very hard at the 'homework' the speech therapist gives her to work on certain sounds she has difficulty saying. She did the following video for family and friends for Christmas wishing everyone a Merry Christmas and Happy New Year.
2014 will be another fun year for Mackenzie. We have a big vacation planned that we know Mack will thoroughly enjoy. We took a break from swim lessons but plan to start again in the next month. Mackenzie started ballet this past week. She LOVES it! She's in a class with 4 other girls and did so well her first time. I can't wait to see how she excels in yet another area!
A good friend recently shared the following quote on FaceBook and I can't help but read it often:
“Motherhood is about raising and celebrating the child you have, not the
child you thought you would have. It's about understanding that he is
exactly the person he is supposed to be. And that, if you're lucky, he
just might be the teacher who turns you into the person you are supposed
to be.”
- The Water Giver
BJ and I look forward to what 2014 holds for our family. BJ and I would both be lying if we said we haven't questioned sometimes why things are the way they are, however, it seems like recently we have both stepped back and realized that Mackenzie truly is who she is supposed to be. And our family is the way it is supposed to be. God has truly blessed us not just this past year but also the past 3 (almost 4 years) that Mackenzie has been part of our family.
I will end by posting what has become my favorite "Mack" video- Mackenzie singing and dancing along to "What Does the Fox Say?"
Happy 2014 to you! Thank you for your continuous love and support!
This post was intended to be typed almost 2 months ago but time has flown by and our busy lives have caused me to put this aside for way too long!
BJ, Mackenzie, and I had a great opportunity to go to the Joubert Syndrome Conference in Minneapolis, MN this past July. The conference is held every 2 years. This year's conference had roughly 50-60 families in attendance. BJ and I didn't know exactly what to expect with attending the conference. We've met a handful of families in the recent past who have children with Joubert Syndrome and connected with them immediately so we knew that the same would happen at the conference. I have been connected with numerous families through FaceBook for over a year so I was extremely excited to finally meet everyone in person. For months before the actual conference people on FaceBook were showing such excitement about attending the conference and reuniting with their JS family so I was pretty certain it would be a great experience for all of us. And it was exactly that plus more.
The start of our trip
We made the trip a 2 week vacation and drove over 2500 miles total! We visited family in the Chicago area before and after the conference which was fun (Mackenzie definitely enjoyed the time spent with my younger teenage cousins and receiving nonstop attention!). I cannot brag enough how well Mack did during the traveling part, visiting family, and during the conference!
When we arrived at the hotel in Minneapolis, we immediately ran into several families- most of whom I "knew" from FaceBook and some who we had met previously. And immediately it did feel like family. One of my favorite moments was meeting Robby, aka-Mackenzie's boyfriend:). Robby's mom, Sheri, messaged me on FaceBook a while back and we remained in contact since. Robby is a few months younger than Mack and they mirror each other in a lot of ways. Sheri and I knew we were going to show up at the hotel around the same time so I kept my eyes open for them and it was very easy to spot Robby! Mack definitely connected with Robby right away and from then on, they were inseparable! Below is a video that was taken in the main area at the hotel very soon after the met. I really do think that Mack and Robby both were thinking the entire week, "Wow, it sure is nice to be around someone who is so much like myself!"
We joked how Robby and Mack were an "old married couple". They would get along great at times and then other times they would fight and argue. Below is a video of them disagreeing on where to go. Robby was fascinated by the door opening and closing but Mack wanted to go back on the patio.
BJ was not too thrilled to see his little girl getting a kiss from a boy:)
So what all went on at the conference? Way too much to type up! I am more than happy to share details (and the tons of pics and videos I took!) with anyone interested but this blog post would be way too long if I included everything. So let me try to summarize as briefly as possible.
The conference was 4 days (Wed-Sat night). The mornings and early afternoons consisted of an overload of information--but very good/helpful information! They had sessions ranging from the overview of Joubert Syndrome, the health complications that can occur in one with JS, the genetic aspect and future pregnancies, behavioral issues, toilet training, iPad use, the findings from the NIH study (Our visit to the NIH July 2012), ciliopathies, and much more. There were doctors from the NIH and from the University of Washington (More information on their research study). All of the doctors/specialists were so easy to talk to. They ate where we all gathered to eat and had no problem discussing any questions we had at any time. I am very thankful we had the opportunity to meet them and am also very thankful for all of the time and effort they put into the research on Joubert Syndrome. One of my favorite presentations was given by Scott, an adult who has JS. He gave me permission to post his presentation for others to see so if you have the time, please watch at http://youtu.be/6EPYB1RlPEA. I'm looking forward to the day when Mackenzie is old enough to share her story with others.
Most late afternoons/evenings were free-time. Mall of America was just a few minutes away so we went there pretty much every day. We didn't come close to seeing the entire mall since Mack preferred to spend most of the time in the Nickelodeon Universe portion. Mack's facial expression in the picture below clearly shows her excitement that she had each time we visited.
One afternoon we went with Robby and his parents and Angel and her dad to the aquarium. Robby was the ladies man that afternoon!
We had several hours free on Friday so we took Mack to ride on the rides which she LOVED. She also met Dora, Diego, and Boots which was a huge highlight of her trip.:)
Robby and Mackenzie (and many others) enjoyed time at the indoor pool and then gathering on the patio outside. Below is a picture of me with Angel. Angel is a very sweet girl who I enjoyed getting to know!
Angel's dad Bret is a main part of the JS scientific committee and does a great job doing research and getting more information out there for parents. Check out the Joubert Syndome Science page at https://www.facebook.com/JoubertSyndrome Mackenzie got a little jealous when I was holding Angel but decided to try to make Angel jealous by spending time with her dad.:)
We let Mackenzie stay up one night until 11:00 on the patio which thankfully she slept late the next morning:).
We enjoyed seeing our NIH buddy Andrew!
Mack's late date night on the patio with Robby!
By far the best part of the week was Saturday evening. It was the dinner/dance/final gathering! Mackenzie enjoyed having one last date with Robby and we enjoyed socializing with all of those we got to know through the week. But the most fun was when the dancing began. Everyone took part in it (even BJ who very rarely dances!:)). Seeing everyone dance and just let loose was great! Mackenzie definitely enjoyed every single minute of it! She danced for pretty much the entire time!
Me and Jackie- Jackie and her son Andrew were at the NIH the same time we were. Jackie also co-chaired the conference. She did an excellent job (as did the rest of the committee!)
Sheri (Robby's mom)
Mack and Robby dancing!
Once again, I will state how thankful we are that God blessed us with Mackenzie. If it wasn't for her, we would not have the opportunity to get to know such a great group of individuals and be part of the JS family. It's amazing to me how individuals from all over the world and from different backgrounds can connect so easily. Just writing this post and going through all of the pictures and videos makes me miss our family. Before going to the conference I wondered if it would be a one time ordeal or if we would go to future conferences. After attending this one, it is very obvious to all 3 of us that we will be going to as many future conferences as we can. Next conference is Chicago July 2015 and it cannot come soon enough! A quick thank you to those who supported us (and the foundation) in so many ways in the past year. We truly appreciate it!
To those who read this who are affected by Joubert Syndrome or have a child affected by Joubert Syndrome, please visit www.jsrdf.org on how to become more involved in the foundation and also how to attend future conferences. I promise, it will definitely be worth your time!
