.scott's story.

One of the scariest things that Nick and I had to face after receiving the boys' diagnosis was what their future looked like.

Before having children, I always imagined that their future would be limitless. That they would be able to do whatever they dreamed and nothing would stand in their way.

Then we heard the words Joubert Syndrome and all of those dreams for my children were stripped away.

What do you mean they might not be able to walk? Talk? Go to college? Get Married? Live on their own?!?!

These questions and a million trillion others ran through my head as I tried to process what exactly "Joubert Syndrome" meant for their future.

It was all way too overwhelming for me and some of the best advice I received from other JS parents, was to just take it one day at a time.

And that has proved to be so very true.

Instead of being overwhelmed and scared for their futures, I get glimpses of hope for what their futures might actually look like.

Each milestone they reach. Each obstacle they overcome. Each new skill they obtain.

It all gives me hope for what amazing things they are capable of.

And Scott MacLellan's story is no different. Scott's story of life with Joubert Syndrome not only causes me to grin from ear to ear but also beam with pride for what an amazing example he is to everyone. Not only those living with Joubert, but to everyone in general. His story shows that you are capable of anything you put your mind to!!

Here is Scott's story in his own words:

I’m 28 years old from Ottawa, Canada, and was diagnosed with JS 2.5 years ago. 

Throughout my life my parents and I received many different diagnoses, the most common of which were cerebral palsy and ataxia. Since there was never really any clear diagnosis, most of the cosmetic and/or medical things that have come up were treated individually at the time.

For the most part, I grew up like any normal kid, just with a few different accommodations. My parents always fought hard for me to be in a stream-lined school setting, but with the help of an EA for scribing and carrying books. 

I participated in accessible sports like Taekwondo and sledge hockey, went to a summer camp for disabled children for many years, and got involved with organizations for the disabled. It was because of this that I started doing public speaking, first on behalf of one of the organizations, then later on my own.

I went to a regular college, and came out with certificates in Media and Communications and Scriptwriting. I’m now writing articles about transitioning to adulthood with a disability for a blog called Support for Special Needs and looking into writing for other publications or websites.

Back to JS. 2.5 years ago, a new family doctor had gotten some of my notes from pediatrics, and wanted to go over them with me. She saw Joubert noted on an MRI from many years ago, and when I said that I knew nothing about it, she suggested genetic testing. So, later, my parents and I met with a geneticist and found out I had the syndrome.

 From there, we connected with the JRSDF and met Karen Tompkins, who was the president at the time. She asked me if I’d like to speak about my life with Joubert at the conference in Minneapolis, and I did. 

Everyone, from the specialists and parents to even some of the teenagers who were there, complemented me and thought I should go further with the speaking, writing, and advocacy, so that’s what I’m trying to do now.

Not only did Scott play sports and go to summer camp, but he graduated from college, writes for a publication and speaks and advocates for Joubert Syndrome and special needs.

These are amazing accomplishments and I am so proud of him!

Thank you Scott for being willing to share your story and for bringing so much hope to others through your life.