Been Busy

Blogtober took a bit of a hiatus for about a week due to a lot of different things happening all at once here.

Aside from some fun and travels over the Thanksgiving long weekend, I also had an appointment with my ophthalmologist. Went well and I actually made it out under the three-hour mark (yay!)

This past week, I finally met with a job coach from Live Work Play, the organization I recently switched to for help looking for work. It was promising. Together, we filled out profile (closest thing I can think of) for myself, which listed my skills, experience, what people seem to like about me, and any specific accommodations that would make employment easier for me, which was something new.

Overall, the process and Live Work Play's approach are quite different to what I've experienced before, but made me feel more at ease. Instead of sending me job ads, or applying to them on my behalf, the organization has someone who works with employers to actually create jobs. Then, that person meets the job coaches, and jobs are matched with appropriate clients. Like I said, very different. But, if it gets me a job, then I'm more than okay with it.

And I recently found a sci-fi/fantasy book club here in Ottawa. I just stumbled upon it one night after deciding that I wanted to do something to get out more and meet people. I've already RSVP'd to a couple meetings, so hopefully it'll turn into something fun!

And now, Blogtober marches onward.

Cheers

JS Awareness Month - The Faces

In my last post, I wrote about the causes and typical characteristics of Joubert syndrome. While that helps promote awareness, it's just a part of the picture. Reading about cilia, low muscle tone, and the like can only tell a person so much. And sometimes that information can make things look a lot darker than they might actually be.

When I was first diagnosed with Joubert syndrome, the things I was told and looked up for myself both confused and frightened me. It wasn't until I met people with JS, and their families, in the flesh that I started to grow comfortable with the new diagnosis.

This is why I believe that, to promote awareness for a syndrome like JS, or any syndrome, disability, or impairment for that matter, it's important for people to see the faces along with the facts. With that said, I want to use the rest of this post to show some of those faces, of people big and small, affected and not, who I've had the pleasure of meeting over the last few years.

*All photos in this post were used previously and ok'd by the folks in them and/or their parents*

Cheers!

Thanksgiving Break

That week of posts didn't quite work out as planned. Continuing on with more JS awareness next week.

It's Thanksgiving here in Canada this weekend, and I'm heading up to the family cabin for a Thanksgiving picnic, then down to the US for some American junk food and Dinosaur Barbecue!


Cheers!

JS Awareness Month - The Facts

Joubert Foundation's logo

Describing Joubert syndrome, medically, can be daunting, so for this post I'll quote the Joubert Syndrome & Related Disorders Foundation's website, adding in the occasional photo or point for context:

Joubert syndrome is a rare genetic disorder characterized by decreased muscle tone, difficulties with coordination, abnormal eye movements, abnormal breathing patterns and intellectual disability. These issues are due to abnormal brain development, resulting in decreased size of the cerebellar vermis and other brain abnormalities that appear as the “molar tooth sign” on a brain MRI.

Molar tooth in MRI

Although rare, several hundred individuals with Joubert syndrome have been reported in the medical literature. Mutations in at least 22 genes cause Joubert syndrome, accounting for ~60% of patients. (My causative gene is still unknown.) Subsets of individuals with Joubert syndrome can also have polydactyly (extra fingers or toes) , as well as retinal, kidney and liver disease requiring medical intervention.

Former sixth finger, now "bump" on my left hand

Joubert syndrome is one of a growing group of disorders called “ciliopathies” caused by dysfunction of a part of the cell called the cilium (Lower Right). The cilium functions as an antenna for many cell types, allowing cells to communicate with each other and sense their environment during the development and function of many organs. In fact, cilia are required to sense light in the eye, odors in the nose and fluid flow in the kidneys and liver. Disruption of cilium function likely explains the incidence of eye, kidney and liver problems in individuals with Joubert syndrome.

During this summer's JS conference in Phoenix, I attended a "science fair" with researchers studying cilia. Very interesting stuff, and the researchers were eager to meet individuals impacted by their studies.


Currently, Joubert syndrome affects an estimated 1 in 80 000 individuals worldwide and about 1000 families are known to the Foundation.

If you're interested in learning more, visit the Joubert Syndrome & Related Disorders Foundation's website at https://jsrdf.org/


Cheers!

Success Stories & Cinnamon Twists (Or, How a Doughnut Helped Me Become Independent)

I know I already posted today, but my mother just told me a story worth sharing.

She and a friend were out to brunch this morning, and their waitress recognized her. My mother told her she used to work in the bank in Winchester, the town my family lived in before moving to the city. The waitress then told my mom and her friend that she used to run a bakery across from the bank my mother worked at. Normally, the conversation would've ended there, but this was a pretty special bakery.

This particular bakery, my mother told the woman, was the very first place I was able to walk to on my own! It was about a three-minute walk from my house in Winchester to the bakery on Winchester's main street. In the summer, when I was about nine or ten years old and could finally walk with minimal assistance, a short stroll uptown with either of my parents (usually my mother) was a typical source of physio. Early on, the bakery was typically as far as I could go. As a reward, we would go inside (the building was easy to get in and out of) and I would be treated to one of their cinnamon twist doughnuts!

As I got a little older and my walking improved, I was able to make the trek on my own. Once I mastered the distance between home and the bakery, I was allowed to go further. First, another few minutes to the local pharmacy, one of the first places I got comic books from, then further still to the post office to get our mail, a major source of allowance for me at the time. Eventually, I was capable enough to traverse several blocks to the town's convenience and video stores, for the occasional movie and snack!

My mother shared this, with her friend, whose daughter is also disabled, chiming in, and had the waitress in tears, telling them how much the story made her day. Hearing about it, it kind of made mine, too!

Cheers

October is Joubert syndrome Awareness Month

This month is Joubert syndrome Awareness Month.

To promote this and spread awareness, and to keep up with my Blogtober project, I'll be taking the rest of the week to post about many different sides of JS, from the facts behind the syndrome itself, to many of the people I've met over the last few years, to how I feel about having the syndrome.

Until tomorrow then, cheers!

Blogtober

In your heads, remove "oct".

I was downtown this afternoon and halfway through the bus ride home, I had an idea.

October is Joubert syndrome Awareness month. For my artist friends, it's Inktober, where they try and complete one drawing per day.

Taking inspiration from both of those, I've decided to make this month Blogtober! 

Every day this month, I will dedicate at least some amount of time to the blog whether that means writing new posts, editing stuff, or updating older ones.

I'm sure I'll make it...

Cheers!