Mack's Mom - Joubert Syndrome & Ocular Motor Apraxia

Saturday, January 19, 2013

Looking back at 2012 & looking forward to 2013

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!