What's It Mean to Me?

I often hear the question "What's it mean to you?" posed or asked in relation to different aspects of Joubert syndrome. People are curious about how topics like genetics, getting a diagnosis, and even social media apply to you personally. I've even asked people about genetics a couple times. Well, I was reading a couple of posts on a Joubert Facebook group the last couple days that sort of relate to the subject, and I thought I'd write about what it all means to me.

I can't comment too much about genetics because, to be honest, I don't know all that much about the subject, so I'll skip right ahead to what I thought about getting diagnosed.

As I've mentioned before, I was diagnosed with Joubert syndrome relatively recently (a few weeks shy of my 26th birthday). When I got home after meeting with a geneticist and getting the formal JS diagnosis, my mother asked me how I felt about it. I said I felt that "Joubert syndrome" was just a name. Now, I think my mother was looking for a more profound answer, but the truth is that's what it was at the time, just a name. I didn't wake up the next morning a different person, and my life up until that day wasn't magically erased because of a diagnosis. Not to make light of anything, but they could have called it Scott MacLellan syndrome for all I cared at the time.

Beyond seeing a couple new doctors, Joubert syndrome never really meant anything to me until the conference in Minneapolis, when I actually got to meet others with JS in person for the first time. And now, as I continue to meet and interact with more people, especially other adults with the syndrome, Joubert syndrome means a lot more.

And speaking of meeting and interacting with people, there are a lot of posts and articles out there about what social media sites like Facebook mean to special needs parents and/or families, but not much about what they mean to the people with special needs themselves. Now, I'll probably expand on this in another post (in fact, I think I will) but for now I'll say that for the past four years, social media has been a lifeline. I've met so many great people, from literally all over the world. Without social media, specifically Facebook, I would have never met anyone else with Joubert my age. And, I wouldn't be writing this post, allowing me to share my thoughts and opinions on subjects like this one.

So that, in a nutshell, is what it all means to me.

Cheers!