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
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!
Today marks a year since Mackenzie was diagnosed with Joubert Syndrome. You can read our journey from a year ago: Joubert Syndrome.
I wrote the following today on my personal FaceBook page:
"...this is a great time to say thanks to all of our family and friends who
support and cheer Mackenzie on through her many accomplishments. And I'm
especially thankful that a year ago we immediately became part of the
JS family. I love being connected with and receiving great support from
so many people around the world who are going through the same journey
we are and being able to cheer on other individuals with Joubert
Syndrome with their many accomplishments!"
I talked with a good friend on the phone last night. A friend who lives in Canada. I have never met Jen in person however I have had several phone conversations with her and endless FaceBook messages. Her son is a little younger than Mackenzie. He and Mack are very similar (from the stories we exchange with one another) so it is very helpful to talk with someone who is parenting a child so much like my own.
I have another friend who lives in Spain. Again, never met her. Her son is 7. We exchange messages often. She has a blog (http://diaridunaapraxia.blogspot.com/). You'll have to find the 'google translate' on the side of the blog since it isn't in English.:) She did a video specifically for Mackenzie. I know that Arnau and Mackenzie will be friends in the future due to their shared love for cars and Thomas the Train!
The 2 paragraphs above show the connection and friendships I've made with people I may never meet in person (although I'm REALLY hoping to meet both of these families in the future!). Both of these women have been extremely helpful and encouraging to me. We relate to one another in so many ways. And these are just 2 examples of friendships I've made- I could list several more. My hope is that as Mackenzie gets older, she will have the similar connections but with people who have JS who share her accomplishments, struggles, etc.
On top of the connections our family has made with individuals going through similar journeys that we are, we have also received so much support from family and friends. I know that Mackenzie will grow up feeling very blessed for all of those who cheer her on and support her with whatever she does in her life.
The diagnosis Mackenzie received a year ago came as a surprise (we went a year being told that Mackenzie's brain MRI was 'normal' so when we were told it was misread we weren't sure what to think). But I definitely wouldn't change how things have happened. Joubert Syndrome doesn't define Mackenzie. But it does help us understand her better. And it has definitely brought us the support we need.
Like I've stated numerous times, we are very proud of Mackenzie and her endless determination. This video was taken a week ago. Mackenzie has come a long way in the past year and I know she will continue growing in so many ways. I love watching her run outside!
I want to end by posting the lyrics to a song. I posted these lyrics on FaceBook a year ago after we heard that Mackenzie had Joubert Syndrome. No matter what life throws at us, I do believe that there are always blessings to be found. Often times it's very hard to find those blessings, but they are there.
Blessings
By Laura Story
We pray for blessings, we pray for peace
Comfort for family, protection while we sleep
We pray for healing, for prosperity
We pray for Your mighty hand to ease our suffering
And all the while, You hear each spoken need
Yet love us way too much to give us lesser things
'Cause what if your blessings come through rain drops
What if Your healing comes through tears
What if a thousand sleepless nights are what it takes to know You're near
What if trials of this life are Your mercies in disguise
We pray for wisdom, Your voice to hear
We cry in anger when we cannot feel You near
We doubt your goodness, we doubt your love
As if every promise from Your word is not enough
And all the while, You hear each desperate plea
And long that we'd have faith to believe
'Cause what if your blessings come through rain drops
What if Your healing comes through tears
What if a thousand sleepless nights are what it takes to know You're near
What if trials of this life are Your mercies in disguise
When friends betray us
When darkness seems to win
We know that pain reminds this heart
That this is not,
This is not our home
It's not our home
'Cause what if your blessings come through rain drops
What if Your healing comes through tears
What if a thousand sleepless nights are what it takes to know You're near
What if my greatest disappointments or the aching of this life
Is the revealing of a greater thirst this world can't satisfy
What if trials of this life
The rain, the storms, the hardest nights
Are your mercies in disguise
BJ and I are blessed beyond measure to have this beautiful girl as our daughter. We are so proud of who she is!
I could write a very long list of why we love Mackenzie and explain each reason in great detail. But for now I'll stick with just one of the many reasons why we love Mackenzie. BJ and I absolutely love how Mackenzie is a tomboy and a very girly girl all in one!
I love how Mackenzie will go outside and play in the dirt and rocks then
come inside and want me to paint her nails. She'll play at her tool
bench and then run back to her room to feed her baby doll a bottle.
Earlier last week Mackenzie took it upon herself to wear her Thomas the Train (boy) pajamas and put on her cape and mask. While I was taking the pictures below Mackenzie was yelling "Super me to the rescue!!!"
And then 2 days later I catch Mackenzie in front of the bathroom mirror getting ready for the day. I had to shorten the video below because it was over 5 min long.:) The best part is at the end when she looks at me, smiles, and says "all ready!"
BJ and I are so thankful for this cute and unique little girl!
Mackenzie recently had her 3rd birthday. It was a very special day for the both of us since Mackenzie was born on my birthday. I joke around saying that Mackenzie showed up a week overdue because she wanted to steal my birthday away from me however I truly do enjoy sharing a day with such an incredible little girl!
Mackenzie celebrated her birthday with friends and family the week before her actual birthday. And then BJ, Mack, and I celebrated together on our actual birthday. I'm quite certain Mack thought her birthday lasted a couple of weeks!
Mackenzie has been eyeing toddler bikes for quite some time. We weren't (and still aren't) quite sure on how well Mackenzie will do with riding a bike with training wheels but we try our hardest to let Mackenzie try everything kids her age are doing. There is a local program that makes adaptive bikes for kids and adults with physical limitations and one of Mackenzie's physical therapists recommended that we look into it (which we have) but before getting her one we want to see how she does with a regular bike. So for Mack's 3rd birthday we gave her a princess bike. Mackenzie LOVES her bike. She works very hard at riding it. There have been some bouts of frustration on her end (and I'm sure more to come!), even a hard fall on the sidewalk, but she continues trying and I have full faith that she will continue improving with riding her bike.
Mackenzie had another proud moment this past weekend. We ended up getting snow (which does not typically happen in our area this time of year!). Mackenzie was very excited to put on her boots and go out and play with Daddy. The few times it snowed this winter were rough for Mack. She wanted to play in the snow but wasn't able to walk around (or even stand) on her own in the snow plus wearing the boots made it even harder! But this past weekend she was able to get around (with just a few falls) on her own. She helped Daddy build a snowman and was VERY proud of herself. I'm not too fond of snow especially mid-March however I'm so glad it did snow this time because it gave Mackenzie the opportunity to build her first snowman. We're already talking about building more snowmen next winter (since Mack was very disappointed watching her snowman melt).
Mackenzie turning 3 means that she ages out of Early Intervention. With Early Intervention we had the therapists come into our home to do the sessions. Mackenzie had to say bye to one of her physical therapists, her occupational therapist and vision specialist. We have had these 3 women come into our home for over a year and I know Mackenzie will greatly miss them. Laura, Colleen, and Pam- if you read this- thank you for all of your work with Mackenzie the past year+! Since Mackenzie ages out of Early Intervention it means she can go into the special education program in the local public school system. We have opted out of putting Mackenzie in the program for now. She is striving at a local church preschool and is able to have an aide with her at all times. We are taking Mackenzie to private physical and speech therapy sessions weekly so we feel that she is getting the services she needs right now. We aren't sure what services she will need once she starts kindergarten but we will cross that bridge when the time comes. Right now we feel that we should keep her where she is because of how well it is working for her. We are very thankful to have a local church preschool be so accommodating- Mackenzie LOVES going to preschool! She even has a little boy in her class who she says is her boyfriend--BJ isn't too fond of this!:)
And as for Mackenzie's aide at preschool-- This young lady has been a wonderful blessing to our family! We met Katlyn just a few months ago but she has already become part of our family. Katlyn is majoring in special education and works so well with Mackenzie! We truly couldn't have found a better person to accompany Mackenzie to preschool every week. And to top things off, Katlyn also shares a birthday with me and Mackenzie. She's definitely meant to be a part of our lives!
I'm also going to brag about one more young lady, Erica, who I used to babysit (and she is pretty much my little sister!).
Erica is now babysitting my child (and one day Mackenzie will be babysit Erica's kids:)). Erica is part of our family! She is Mackenzie's swimming buddy during the summer. She hopes to go into occupational therapy in the future and I am pretty sure Mackenzie played a key role in Erica's decision:) I love hearing how Mackenzie is encouraging girls like Katlyn and Erica to go into the field they're going into. Mackenzie is only 3 years old and is already blessing so many!
We look forward to what Mackenzie's 3rd year holds for her! I'm quite certain that she will continue making us smile with her many accomplishments, determination, personality, and just being herself! We are very thankful that God blessed us with Mackenzie 3 years ago!
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!
2012 will always be a memorable year. Mackenzie had several milestones including taking her first steps in April. She received the diagnosis of Joubert Syndrome in May. We went to the NIH in July for a 4 day study on Joubert Syndrome and met two wonderful families. We have gotten to know several families (thanks to a FaceBook group specifically for parents of children with Joubert Syndrome). This group has allowed us to be a part of a very encouraging group of people who share their excitement over milestones and also their concerns of being a parent to a child with Joubert Syndrome.
Mackenzie had a wonderful Christmas which was a great ending to the year. She received numerous gifts but her favorite was a trampoline. She has a lot of fun on it plus it helps her out tremendously with improving her mobility. Below is a video of her first night on the trampoline. Her counting skills are by far the best part of the video!
We spent Christmas at the beach which Mackenzie enjoyed!
Mackenzie received a "big girl" Dora bed after we returned home from the beach.
Mackenzie mastered roller skating while she attended a friend's birthday party. She needed a little help from Daddy but stood on her own and even "skated" several feet. She still enjoys looking at this picture and says "Skating! Big girl!".
2013 has started out great. Mackenzie spent several days with her 2 older girl cousins who she loves following around everywhere! She also began 2 year old preschool. She goes to a local church 1 day a week. She has an aid with her (a college student majoring in Special Ed) who Mackenzie absolutely adores. Mackenzie does very well interacting with her peers (besides the occasional not wanting to share incidents:)). She watches everything her peers do and tries very hard to do with they are doing. She comes home singing the songs that she learned that day. It sometimes takes me a while to figure out what she is singing but I eventually pick up on it.:)
Mackenzie was very excited to go to school with her Dora backpack!
We also received our first snow of the year. Mackenzie loved looking out the window. She constantly said "Look Mom! Snoooow!"
Mackenzie continues to excel with swimming. She has lessons every week and never wants to get out of the water when the lesson is over. Quite certain she will be swimming fully on her own in the near future!
We are very thankful for all that 2012 had to offer and look forward to all that 2013 holds for us! We especially look forward to attending the biennial Joubert Syndrome conference where we will get to meet so many of the families we've connected with through FaceBook!
We hope everyone had a wonderful Christmas and New Year!
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