2013 Joubert Syndrome Conference in Minneapolis, MN

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!

The above pictures were taken by Jenni Swenson https://www.facebook.com/pages/J-Rochelle-Photography/176797728818. She and her husband chaired the conference with Jackie. Jenni did a great job taking photos of everyone throughout the week.