Five for Five - It Really Is a Small World

Today is Rare Disease Day and this week marks five years since I first heard about Joubert syndrome. So to honour both, I'm taking this week to write about five things I've learnt in five years with JS.

1. It's a very small world

Thanks mostly to the Internet and Facebook, I've learnt that the world becomes incredibly small when you have a rare disorder. It's such a cool thing to be able to look up photos, videos, and articles about Joubert syndrome and instantly know, or at least recognize, the people in them!

Medically speaking, I've now got people looking out for me all over North America. My geneticist here in Ottawa, specialists from the conferences in Seattle and D.C. I've even got doctors in Boston and Montreal looking for my gene.

Personally, I've got friends from all over the world! The first adult with Joubert I met was from Sweden, and I've since met others from Wales, Holland, and even Australia. For my 29th birthday, a year after attending the Joubert conference in Minneapolis, I received birthday greetings from people as far away as Malaysia!

It's so great to be part of such a small, worldwide community, and I'm excited to see it keep on growing.

Cheers!

Reject Negativity

Sorry for sounding blunt, but sometimes being disabled can really suck. You can think about phrases like "Hang in there", "Just keep swimming", or "Keep calm and whatever", but sometimes these just don't work. However, just because things might suck sometimes, it doesn't mean you have to give into negativity.

A few years ago, I let issues with Para Transpo, housing, home-care, and even the winter weather get the better of me, and I put myself in a real rut. I got out of my funk fairly quickly, but the negativity remained.

Very recently, I found out that a friend of mine, who also has Joubert syndrome, is going through some stuff. *Withholding my friend's name, and what that "stuff" is for obvious reasons.*

My friend's extremely positive attitude in dealing with the aforementioned "stuff" is a real inspiration (and that's not something I say often!) So from now on, thanks to this inspiration, I am going to try my hardest not to be as negative, especially towards things like the issues I mentioned above.

In fact, it's already working. I phoned to check on housing updates this morning, and didn't even get the slightest bit mad when they told me there wasn't any real change!!

So, even when things seem the worst, don't go to the dark side (even if they promise cookies!)

Cheers

Two, Deux, Dos, and So On

This weekend is The Rare Writer's second blogiversary (that's absolutely a real term, I swear!) Thanks to everyone for the continued readership and support. Looking forward to a great third year.

Cheers!

Idea Days

For the past several Thursdays, I've been doing what I call an idea day. I get the bus (Para Transpo, for now) to one of my favourite coffee shops nearby for a couple of hours, get something to drink (chai latte usually), a bite to eat, then I write.

I come up with ideas for the blog, the book, and/or, as of right now, an idea for an advocacy-related event that I may or may not try and make happen for real. Sometimes, like today, I just take a book and read. Overall, it's just a good opportunity to get out, especially now during winter.


Cheers!

My body's in a blizzard, but my mind's in Montego Bay

Remember before Christmas when I wrote about out-running Old Man Winter? Well, today he's putting a serious beating on Ottawa and the surrounding area.

Clipart, because I am NOT going out there today!

It's days like today, and ones this weekend that felt like -40 Celsius, that make me want to go back to the resort I was at outside Montego Bay, Jamaica for Christmas 2010. I would give a lot right now to go from the white stuff back to this:

Relatively shallow Infinity pools, sun, sand, jerk pork/chicken, free Coke at a swim-up bar, and copious amounts Bob Marley music.

Cheers!

Headstands and Handwriting

With all the "big-ticket" issues associated with disabilities and rare disorders, it can be easy to overlook the small, seemingly random things people have in common.

This week, I was scrolling through a Joubert syndrome group on Facebook and saw a photo posted of a little girl doing something similar to what I'm doing in the photo above. My parents and I have always called them headstands, and I've seen other photos of kids with JS doing the same thing, So, I shared that photo and asked if any other kids do/did it. I was shocked and amazed by how many parents responded with their own headstand stories. There were even a few photos, which were awesome and pretty cute!

We never knew why I did it, but according to some comments on the post, it has something to do with sensory regulation and stability, which makes sense given other things I've learnt about Joubert syndrome.

Another example of something small turning out to be a big similarity to others with Joubert is handwriting.

Several months ago, this article circulated on social media. The article is about a man missing part of his brain, the cerebellum, how he functions without it, and what can be learned about the cerebellum's function because of it. The cerebellum is one of the main parts of the brain associated with Joubert syndrome. The syndrome's effect on the cerebellum can cause issues with tasks like coordination, learning ability and handwriting, apparently.

In the article, there is a photo with an example of the man's handwriting. Well, it's my handwriting too.

And, from the comments of a couple of parents in the Joubert community, it's THEIR kid's handwriting as well!  Kind of interesting.

I guess the takeaway here is don't hesitate to share the small details, regardless of how goofy or random they may seem. You might just learn as much from these as from the bigger things.

Cheers!

Self-promotion & Putting Myself Out There

I've written before about needing (and wanting) to work on self-promotion and putting myself out there. Well, I've decided to take a couple steps towards that.

Recently, I asked around on a disability advocacy group about tips for speaking. I got a reply suggesting that I join advocacy groups as a way to network. So, I've decided to do that. First, I'm going to become a member of CORD, The Canadian Organization for Rare Disorders. I attended one of their conferences a couple years ago. The membership fee is cheap and the potential contacts and information I could get out of it could be well worth it. Plus, if things ever line up for me to attend another conference, I just may get to travel some more and that's always a bonus!

Second, I'm seriously going to look and see if there are any advocacy groups here in Ottawa that would be good to join. This part could take a bit more research, so I'll post updates when they come.

And lastly, I've decided to start writing for another website again. The blog is great, but the site I just contacted, which will remain nameless for now, has an actual Contributors page, complete with photos and brief bios of each person. So, if the response is positive, I could literally get my face out there!

Finger crossed, and I'll post updates when/if they happen.

Cheers!