Whole Lotta Updates

Well, Five for Five took way longer than I thought it would. But, it's been a pretty eventful month.

The month started with a seriously long eye appointment. Four hours! It was my first in over a year, so it was already going to a while, but yeah. Dilation, freezing, and plenty of photos and other tests. What made it longer was that there were some small discrepancies with one of the vision tests. Long story short, they had me see a retinal specialist who diagnosed me with coloboma.

Coloboma is a hole in one of the structures of the eye, the retina in my case, caused by a genetic defect where certain nerves never formed when I was being born. The doctors call it a freckle behind my retina, with just a tiny bit of fluid around it. Nothing to worry about. It just means that my left eye is a little bit weaker than my right. On a more interesting (maybe) note, I found out that Paris Hilton has Duane's syndrome (effects eye movement) like I do. So that's a thing, I guess.

Then a fairly nasty cold starts making it's way through my family, so of course I get that for a while. But, I got better just as the weather started to improve and was able to get downtown again for an afternoon! I went for lunch, did some writing at one of my favourite coffee shops, and bought a couple comic books, which were much easier to carry around, thanks to a new bag I got for Christmas.

Bigger than the old one, but much more convenient.

Shortly after that, I got some good information about an advocacy event happening in May, which I registered for, and a job mentorship program for people with disabilities, which I also registered for.

The program is run by an Ottawa-area community health centre which focuses on the social aspects of healthcare. The program runs for three months and would place me with a mentor in a position with their organization, ideally something writing or advocacy-related but I'd settle for data entry or office admin if they can't find anything else.

I had an interview scheduled but before I could do that, I finally decided to bite the bullet and get new shoes.

A while ago, I wrote about needing new shoes to fit a pair of inserts. Some friends, whose kids also have Joubert, recommended New Balance so that's where we looked first. The people working there were really helpful and knew a lot about inserts and AFO's. I got a pair that fit and got elastic laces which are really easy to use.

Then came the interview. Everything went very well. Nice place, nice people, program sounds good. They think I'll be a good fit and are currently trying to find a suitable placement for me!

And finally, the month was capped off (yesterday) with more good weather and another trip downtown.

Cheers!

Five for Five: Impact

Teen/Adult discussion group, JS conference in Chicago. Photo used with permission of some of the parents.

Finally finishing this! Sorry for the long wait. Life and stuff.


5. With JS, I'm learning that what I do has an impact

Not that I didn't know this before I was diagnosed with Joubert syndrome. And I'm not being self-deprecating either. It's just that, in the last couple years (or even just months!), I've started to see the personal side of what I say and do.

I've actually met people who have read/are reading my writing and are watching my presentations. Furthermore, I've met other real, in-the-flesh people with JS (including, among many others, the awesome folks in the photo above!)

Hearing from parents, siblings, and other family members is great, but it's the other people with this disorder who have shown me how much of an impact I can have.

To me, interacting with other people with Joubert is better than any hit on a YouTube video or random "Like" on an article from someone I'll never hear from again. I get to know them personally, what they like and dislike, and what they feel they can and can not do. And, most times, they seem thrilled to be able to share!

I may feel like an "old-timer" sometimes when speaking, answering questions, or interacting with kids half my age, but it's worth it when I get an inkling that something I've said or done could allow a younger person with Joubert to be a little more independent or feel a little better about themselves.


Cheers!

Five for Five: The Riddle That Is Me

Yo!

4. Joubert syndrome has made me want to learn about myself

Since being diagnosed with Joubert syndrome, I've found that I'm very interested in learning about myself. What makes me tick, and why?

One of the interesting things about being diagnosed with JS as an adult is that I can go back through my life, health, and development and look at things with a new perspective. Certain health issues and surgeries stand out more, and various quirks and personality traits that neither my parents or I would've given much thought to before, like headstands, get seen in a whole new light.

It becomes even more interesting when I see or hear of another person with JS exhibiting similar traits. I know everyone with the syndrome is unique so I try and take things with a grain of salt but still, sometimes it's fun to compare and ask questions.

The neurology and psychology of the syndrome seem to fascinate me the most.

Joubert syndrome effects the cerebellum, which influences functions like speech, coordination, learning ability, and possibly even dreaming. I'm always amazed by how such a relatively small part of a part of my body can control so much, and how much screws up (sorry, I can't think of a better word for it) because something happened to it. I'm also amazed by the fact that the cerebellum is affected in everyone with JS (so, the exact same part of the brain), yet everyone with the syndrome is so vastly different and unique!

So, I guess the takeaway here is that, with all the difficulty, frustration, sadness, and general suckiness (this, like blogiversary, is a word too!) that can come with it, a rare disorder can actually be kind of awesome sometimes, from a certain point of view.

Cheers!

Five for Five: Small Talk

3. Sometimes, people just want to talk


When I first spoke at the Joubert conference in Minneapolis, I was all set to talk about what I thought were really important topics like my experiences with healthcare, housing, and therapies. When I was asked questions about these and other topics, I tried to go out of my way to be formal and follow up with people. What I quickly realised was that sometimes people just want to talk, not be educated about something.

For example, one person had asked me about housing, and what I was looking for. Sort of foolishly, I kept going up to her afterwards, assuming she wanted more info. In hindsight, I should've realised that her question was just a question, and she was probably more interested in me interacting with her daughter.

This became a trend for the rest of the conference. Less educating and talking about the "big ticket" topics, and more time socializing, talking about little similarities like summer camps, school, and comic books, and being there for the other youth with JS.

I carried this over to the blog and later, the conference in Chicago, where I tried to be less informative and more conversational. I focused less on the topics I used to think were so crucial, and more on issues like bullying and success stories, stuff that everyone can relate too. And, you know what? I'm getting more positive feedback now than I ever did from talking/writing about the "big stuff".

So, while it's important to share about doctor's appointments, assistive devices, or housing registries, remember that sometimes it's just as important to ask "Hey, what's up?"

Cheers!

The Brain You Are Looking For Is Currently Unavailable

*Temporarily

To anyone out there who's been following my recent Five for Five posts and patiently awaiting numbers 3-5, I apologize. Been getting over a cold the last couple days. Add to that a seriously long doctor's appointment this past Tuesday, and my brain's sort of fried at the moment.

Seriously though, the post are coming. Eventually. At some point.

Cheers

Five for Five: It Is What It Is

 



I know this should have been up yesterday, a four-hour doctor's appointment (eyes, everything's okay) combined with a head-cold really messes with your brain.


2. It Is What It Is

There's a lot about Joubert syndrome I could question, and there's a lot about it I could worry about. And sometimes, I do both. But lately, I've learned that there are things you're better off just taking as is.

With Joubert syndrome being as rare as it is, and everyone with it being very different, it can be too easy to read into certain things a little too much, and can really get you down. I know from personal experience. But now, I try my best to stay positive and I don't worry about the things I can't change.

If something happens, I'll deal with it then. For now though, it is what it is.