I love someone who is rare

A rare disease is defined when it affects fewer than 1 in 2000 people – statistically speaking that means that around 3.5 million people could be afflicted by the same disease and it would be considered rare.

That is an awful lot of people.

Based on the extrapolation of statistics we have on Rett syndrome, as many as 700 thousand people could be affected by Rett syndrome, a rare disease…

Rett syndrome is awful; although it affects the entire body, it is primarily considered a brain disorder. Among many other symptoms, it affects the ability to walk, breathe and to communicate.

Rett syndrome symptoms include:

  • Loss of speech
  • Loss of motor control
  • Scoliosis and fragile bones
  • Seizures – including Rett episodes
  • Compulsive hand movement
  • Irregular breathing
  • Apraxia or Dyspraxia
  • Extreme anxiety
  • Gastrointestinal issues
  • Impaired circulatory and cardiac function
  • Parkinsonian tremors

TI love someone who is Rarehe last day of February every year is Rare Disease Day. Rare Disease Day is used to highlight Rare Diseases and create awareness in the general public and decision makers, about the impact a rare disease has on the lives of the affected.

We are slowly breaking down the wall created by Rett syndrome, but like many other Rare Diseases, we need you help.

You can help by spreading awareness for Rett syndrome and Rare Disease Day, you can even donate to any one of the excellent charities out there that support Rett syndrome.

Thank you so much for your efforts, we truly appreciate any help we can get.

Rare Disease Day Social Media items

  • Profilomatic* frames here.
  • Timeline/profile information images here.

*Profilomatic is our easy to use tool that helps you make a profile image for either twitter or facebook using your computer or iPad.

To find out more about Rett syndrome, please read this blog.

 

I love someone who is rare

On a mission to rethink Rett syndrome

We need to change, we need to change what people believe about Rett syndrome. 

When Carys was diagnosed I went onto the internet and started to read, I now think that wasn’t a good idea. Those initial weeks of reading created a host of boundaries in my head of all the things I read she would never do.

  • Can’t walk
  • Can’t talk
  • Can’t use hands
  • Can’t breathe properly

It was a list of boundaries, boundaries I would start to apply to my God Daughter. At a subconscious level I stopped believing in her ability.

Carys, and other girls, have since corrected me, I learned very quickly that communication is a two way thing, and if I wasn’t going to listen, she wasn’t going to engage.

Now I do listen and she does engage, I’m not the best at understanding what Carys’ needs are, her Mum is, but that’s not Carys’ fault, it’s mine because I need to learn her language. There are tools that are changing this barrier in communication, I can’t wait for Carys to tell me to shut up because I talk too much.

I got corrected again this week, by a young lady called Jo. Jo used her eye gaze to make me see that even though many boundaries had been broken, I was still applying them by using words like “won’t write” and “can’t talk”.

I got the message Jo, from a young lady not confined by the boundaries the world of Rett syndrome has applied to her.

I’ll be doing my utmost to make sure I am not someone who applies boundaries to potential. I want to be a part of the change of how we, as a community, perceive Rett syndrome. That doesn’t mean I will stop being a realist, because Rett syndrome is a very real thing. It does mean that I won’t let Rett syndrome define boundaries, I will let her be what she can be.

AvaI saw a picture of Ava this week, one of the girls responsible for changing my initial understanding of Rett syndrome. It was just beautiful, engaging, bright and so full of connection.

I looked at that picture and it pretty much described why this is so important to me, it is the picture I have shared with this blog.

One of the vehicles for our changing attitudes towards Rett syndrome has always been eyes, they’ve been described as having their own vocabulary. So what better way to show why we have to change than using the “windows to the soul”.

Deep in the soul of me
you can find the whole of me
unfettered from complexity
free of my biology
deep within the heart of me
you can hear my voice
straining to be set free

I believe in her, and hopefully, she will believe in me.

Army of Us is on a mission, we want to change what people read about Rett syndrome. We want to accurately reflect the stories of people affected by it, to make sure that people understand that what the read about Rett syndrome right now, is not their destiny. So that when others go onto the Internet, their journey is not decided before they’ve even taken the first step.

—————–

So we’ve started to surround ourselves with people on the same mission, we are building up a blogging network to talk about Rett syndrome and talk about the strides medicine, technology and study have been teaching us.

We are looking for people who want to share this mission with us.

Our first new blogger is my friend Jen, who along with her daughter Ava has already accomplished so much on this journey, her blog is inspiring: Angel Ava – Believe

 

 

On a mission to rethink Rett syndrome

Believe

When Ava was first diagnosed with Rett syndrome at 22 months, I had a lot of preconceived ideas about what she was going to be like. In the months leading up to the diagnosis, I had spent a lot of time conferring with Dr. Google who informed me over and over again about all of the things girls with Rett can’t do. They can’t talk. They can’t walk. They can’t play. They can’t use their hands. They can’t learn.

It really did a number on me and when she was finally diagnosed, it was a huge blow. To be clear though, the blow was not to her. As my husband and my parents kept telling me “Ava is still Ava.” Rather, the blow was to me and to my expectations of what her life (and mine) would be like.

Interestingly enough, immediately after that appointment with the neurologist we had an appointment with her amazing physiotherapist, Simona DeMarchi. As soon as we walked in, I blurted out that Ava had Rett and broke down in tears. She gave me a long, emotional hug and said: “Now we know and we’re going to keep working.” And that was that. She didn’t suddenly change her approach or make the exercises easier. She kept on expecting Ava to rise to the challenge. And rise to the challenge she has.

In and around the same time, I came across this video of another little girl with Rett, Cammy Can, using a Tobii to communicate and I was floored.

This was in stark contrast to the image I had conjured up when I read descriptions of Rett. My husband and I agreed that if there was the slightest chance Ava would be capable of communicating, we were going to make sure we gave her every opportunity to succeed. As a teacher and someone who speaks three languages, I was hell bent on getting her started as early as possible. We researched and figured out that we could bypass the stress of waiting to be approved for a device by purchasing the Tobii PCEyeGo.

We took a road trip to Chicago to see Susan Norwell, and it was life altering- not only for Ava but for me as well.  At first, Ava was not too happy about the Tobii, but eventually she calmed down and started making selections. Then an amazing thing happened. Susan had a conversation with Ava. I remember saying to Susan, “surely she’s not intentionally selecting these buttons- she’s never used symbols, let alone these ones.” And Susan very firmly (and almost irately!) said: “Well how do you know she doesn’t mean what she’s saying? She can see the pictures and she’s smart!” From the moment Susan met Ava, she believed in her abilities. She expected her to communicate using the Tobii. And communicate she has.

 

It took one final group to kick me into high gear. I was lucky enough to virtually bump into Eryn online. We had both posted questions about the PCEyeGo in an online group, so I sent her a private message. Turns out she was also Canadian and worked closely with a 16 year old girl with Rett. We became facebook friends and shortly after, she posted something that changed my entire way of thinking:

“For all of you who have been asking how Jo has been doing with her new eye gaze communication device. Here’s the conversation Jo had with her mom this afternoon;

Jo: “I love you mom” “How’s it going?”
Simone <Jo’s mom> “I love you too Jo. I’m pretty good thanks, how about you?”
Jo: “My servant woke me up early again. I really think we should consider firing her!”

Well that pretty much sums it up. ROFL”

My jaw dropped reading this. Here was a girl with Rett clearly communicating more than just needs. I immediately stalked, I mean sent a friend request to her and to her mother, and a wonderful friendship has since ensued. Jo is incredibly smart, is a talented writer and is very well spoken. She advocates on a city youth council for underprivileged, underserved, and undervalued youth in society. She has great taste in music, enjoys skiing, and loves bobsledding (both for the sport and for the eye candy.) She has a wicked sense of humour. She is quite simply the most amazing 16 year old girl I have ever met, Rett Syndrome or not. I would like for both of my girls to aspire to be like her. (Well, maybe minus the potty mouth!)

I asked her mom how she did it. And her reply was simple- If you don’t believe in your kid, no one else will.

Those words have since become my mantra. And how true they are. I believe in Ava, and I expect her to work as hard as she can.

I am amazed by all she has accomplished in the 8 months since receiving her diagnosis. I’m not going to lie- it’s not all rainbows and unicorns. Rett Syndrome sucks. Sucks. I still have days where I am incredibly sad and angry, and would rather not get out of bed in the mornings. But those days are becoming fewer and farther in between. I’m trying my best to work as hard as I can to help Ava so that she CAN do all of the things her older sister does like talk (on her Tobii or with her eyes), walk (with some assistance), play (with a little help), and learn (with accommodations). Because she expects it.

Believe

Believe