JS Awareness Month - Friends

I post a lot about adults with Joubert syndrome. There are many reasons for that, the most obvious one being I am one. And as an adult with Joubert syndrome, I feel it's important to make it known that there are many other adults like myself out there with this rare disorder.

I've connected with quite a few of those adults over the years, but I wanted to save this final post of Joubert syndrome Awareness Month to show off some of those folks who I feel have become friends and were awesome enough to let me include them in a post.

*Photos and inclusion used with people's permission*

Johan, from Sweden. Johan was one of the first adults I connected with shortly after I was diagnosed. A pretty big movie fan, he's currently going for his Masters in Internet Security.

Crystal, from Washington State. Crystal and I met shortly after she was diagnosed with JS, when her mother reached out to people on social media. My father told her about me, then she and I connected. Within minutes of that, Crystal and I were chatting and quickly became friends!

I've used the photo at the beginning of this post several times before, but they're pretty great people so it's being used again. Left to right, we have Alex, from Florida. Met him at the conference in Chicago after my presentation. We connected on social media soon after and like a lot of the same movies and TV shows. On the other side of me is Noldon from Ohio, who I've mentioned a few times on here already. Then there's Erika from Saskatchewan. Erika's one of the few Canadians I've met with Joubert syndrome, is always a good source of encouragement and a quick chat, and has recently started an internship.

Kaci, from Arizona. Kaci and I connected through the Youth and Adults with JS group I created on Facebook and quickly became friends, often chatting about books or whatever. We met in person at the Phoenix conference, where we led a discussion group for the teens and younger adults in attendance.

When I was diagnosed, I knew Joubert syndrome was rare enough that the chances of meeting someone like myself would be few and far between, and I was okay with that. That's why getting to know these awesome people, and others like them, is always so great!

Many thanks to each of them again for allowing me to include them in this post.

Cheers!

Life Below Ground

This past August, my grandmother came to visit for a while. Since she's not well, my mother thought it would be best for her to stay in my room. It's on the same floor as my parents and sister, close to a bathroom, and the stairs are easier to climb. That meant I was able to stay in our basement.

I did this for a little while last Christmas, and it was pretty fun. Had my own space and was able to do things after my grandmother went to bed. That lasted for just under a month.

This time around, my grandmother stayed for about two weeks. Originally, I was going to move back to my room a day after she left, but my father wanted to go to our cabin that weekend so I stayed for a couple more days. Then a couple days became another week. That turned into a month and now, as of this week, I'll have been staying in our basement for three whole months!

It's a pretty nice space. It's furnished, with a living room area and TV. We sectioned off part of the area to make a small bedroom which is nice too.

Mostly, I just like the feeling of having my own space that's far enough away from the rest of my family, without actually leaving home.

I may move back to my room soon, especially with the colder weather coming. On the other hand, my grandmother's going to be here for Christmas, so I may just stick it out until the new year!

Cheers

Enough With The Nazis

No way was I using that other symbol

I've tried to think of a nicer way to spin the following post, but I can't. Deepest apologies if it upsets anyone. Here goes...

Why can't humanity get it that the Nazis weren't a good thing?!

I can't and won't begin to understand the political climates of other countries. I also realize that people are entitled to their own beliefs. However, I can not get over the seemingly global current obsession with a group that did so much evil!

As someone with a disability, it's a little sickening to see the resurgence of a belief system that ultimately lead to people like myself being thrown in gas chambers.

On the one side, you've got people openly wearing and carrying around swastikas like it's no big deal. On the other side, you have any group or individual who does something remotely hateful being labelled as Hitler or a Nazi. While that may seem like an appropriate comparison to some, it's still a pretty big stretch given the things the Nazis actually did. Also, it just creates more Nazis, so stop it. Just ignore them, and they'll hopefully go away!

It's not my place to totally understand what's going on in the world, but can we all please just show each other a little more respect and kindness?

Cheers!

JS Awareness Month - Rare Writers

No, that's not a typo up there.

With this being Joubert syndrome awareness month, I wanted to put some other JS-related blogs in the spotlight. Many of them have been kind enough to mention me, so it only seems right to do the same for them!

Mack's Mom by Whitney Steele

Whitney started Mack's Mom in 2011, shortly after her daughter Mackenzie was diagnosed with Ocular Motor Apraxia (OMA) and continued it when Mackenzie was diagnosed with Joubert syndrome the following year. In 2013, Whitney attended my presentation at the Joubert syndrome conference in Minneapolis, connecting with me shortly after. That fall, a video of my presentation was included in a post Whitney wrote about the conference. Mack's Mom continued until earlier this year, with Whitney hoping that someday, Mackenzie might tell her own story.

The Unexpected Journey by Anna Dietzen

I first heard about The Unexpected Journey in 2014, when Anna was looking to share the stories of people within the JS community. I sent her an email and she posted my story. Since then, I've been an avid follower of Anna's blog, which focuses on her family and the lives of her boys Parker and Lane, who both have Joubert syndrome.

The Journey Ahead by Stephen Mack

Though I've only just started following this blog, I've known Stephen and his family for quite some time now. Most posts in The Journey Ahead are about Stephen's family, especially his daughter Isabella, who has Joubert syndrome. Looking forward to following this one.

Embrace Positivity by Noldon Starks

Those who've followed my conference posts will be familiar with Noldon as a friend and fellow adult with JS. I started following Noldon's blog two years ago after we mentioned each other in posts about the Joubert conference in Chicago. Since then, I've followed his many posts, which are about a number of subjects and usually end with a very positive message.

Thanks to the author's for allowing me to share glimpses into their various stories. 

Cheers

Review: Defying Doomsday

It's not too often disability collides with my various geeky interests but when it does, it's always exciting!

I heard about this book a few months ago and ordered it the second I was able to. Defying Doomsday is "an anthology of apocalypse fiction featuring disabled and chronically ill protagonists, proving that it's not always the fittest who survive."

I have to admit, when I saw the words disabled and apocalypse in the same sentence, my first thought was "The Walking Dead with wheelchairs. Cool." While that in and of itself would've been enough to pique my interest, I was surprised when the book contained nothing like that at all!

Instead, the stories in Defying Doomsday feature individuals with a wide variety of impairments like spina bifida and hydrocephalus, arthritis, autism, and schizophrenia, and look at how they cope in equally varied apocalypse and post-apocalypse scenarios such as alien invasions, acid rain, extreme drought, and even a world besieged by giant spiders!

The story that I feel showcases both disability and the apocalyptic setting the best would be the book's first, And The Rest of Us Wait, about a former pop star with spina bifida and hydrocephalus who's forced into a bunker with her family and others when part of Europe is threatened by an asteroid strike. When the impact happens, she forms a band to entertain the bunker's other occupants, while dealing with pain caused by a lack of access to medication and implants (the future!) made useless by a power-out, and facing other's concerns that her disability will hinder her should they ever return to the surface.

Probably the best part of the anthology, in my opinion, is a story featuring a war correspondent with cerebral palsy, who has a communication device implanted in her skull (seriously, the future!), protecting a fleeing spaceship from hostile aliens. Just writing that is amazing!

Not every story in Defying Doomsday is so uplifting though. Some can be pretty dark. Like one about a family afflicted with cystic fibrosis travelling through a nuclear war-ravaged landscape to a hospital hoping for a lung transplant for one of their daughters, only to find out on arrival that the
hospital was shelled. Or a story about a woman with autism whose lack of social skills, fixation on her cat, and strict adherence to routines cause her to let a former bully die in a downpour of acid rain.

Overall, Defying Doomsday was a great book to read, and I'd definitely recommend it.

Cheers!

Life After 24

Several days ago, I was writing my "story" for a Joubert Awareness month thing. While doing so, I had made a comment on social media that writing your story is pretty hard when there's 32 years of it. A friend of mine directed me to something he had written for help. It wasn't quite the same as what I was doing, but it did get me thinking.

The piece my friend had written was called "Life Begins at 30". As I was reading it, I realized how much my life really took off at the age of 24.

When I speak and write, people are always amazed by how independent I am and by how much I've done but, the more I look back, the more I realize that I never really started doing things on my own until age 24. Sure, I had been in college but beyond going to the occasional movie or class function, I never really went out and did anything. Even when I did, it was usually always there and back, no lingering or extra socializing, and God forbid I be out after 11 pm! Even within the area of the college and residence, I never really strayed that far. Ten minute walks in either direction, either to the grocery store or to a McDonald's. Beyond college, my sphere extended almost exclusively to my family and what they were doing.

It was only at 24 that I started to branch out and try things on my own. The summer after my 24th birthday was the first time I even thought about travelling anywhere on my own, booking a flight to spend a few days with my grandmother.

That was also the year I went back to college for Scriptwriting. Maybe I had been emboldened by my solo trip to the Maritimes, or maybe it was the people in my class, but in Scriptwriting I was 100% more sociable. Rather than stocking up on books and dvds and hiding in my room, I was frequently participating in group activities, going out more, and even staying out late! My geographical reach expanded too. I got Para Transpo and made good use of it when I could, and started to walk far beyond my previous comfort zone.

I moved into the city the following year, which helped me maintain my newfound independence and drive. I started to go further into the city on my own, first with Para Transpo, then with a regular city bus. One-way trips, driving home with my parents quickly evolved into two-way trips on my own when I got comfortable. Socially, I was quick to find opportunities through my frequent visits to local comic shops, attending game nights, group events, and conventions.

I continued to fly down to visit my grandmother during the summers, but soon I was looking for something else. After much planning, my parents were comfortable with me traveling on my own, by train, to Toronto and staying through the weekend for the Toronto Comics Art Fest.

It's only been relatively recently, too, that I've started staying on my own for longer periods!

So, I guess the message here is not to worry if you don't feel independent or like your not doing things right out of the gate. Do things at your own pace, don't worry about what others are doing, and be proud of whatever it is you're able to do whenever you can do it.

Cheers!

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!