Revolution

This awareness month, Army of Us has been all about Revolution.

We’ve shared awareness images with our take on famous propaganda posters, created profile flags and made timeline posters. But what do we mean when we talk about revolution in the context of all of us living with Rett syndrome?

Rise against RettA revolution often happens when people demand change, when there is a tipping point and the status quo is no longer acceptable to the majority. Rett syndrome is obviously a big part of what we face and how we feel, so it is easy to say that our revolution is about ending the direct – and indirect – impact it has on our lives and those around us. We hope that our families and colleagues who see these shared items in our timelines realise that, to us, this is a struggle and a fight that we are in. It reminds them that we need their help and support if we are all to rise up against Rett syndrome.

To me, revolution has a deep and profound meaning when viewed in the context of our battle with Rett syndrome. Like all revolutions, the movement starts from a small group of people, with an idea or vision. Often this group face overwhelming odds. As I sit here and write this today and think about my own journey over the last seven years with Carys, it reminds me of just how overwhelming those odds were to me when we first received our diagnosis.

Like most people, it took months to come to terms with the news that our lives were going to be different, especially of course for Carys. And like most people in fight, I looked for a quick win. I wanted desperately to make Rett syndrome go away. When I heard of a promising study and potential treatment to reverse the symptoms of Rett through a bone marrow transplant, I committed myself fully to the fight. For months I fund-raised relentlessly and grasped at any straw that made it look like I didn’t have to deal with this diagnosis. I thought the battle was won.

It was heart-breaking to learn that this study wasn’t reproducible, and at that point my morale was at its lowest.

That lesson taught me that the fight we are in is a war of attrition. It is a long, sustained battle. Whilst we may have some promising research on the horizon that will help us win, we need to remember that we need to survive now to see that day. A war of attrition is won through marginal gains, by wearing the enemy down. It is so easy for Rett syndrome to wear us down, and even more distressing when we turn on each other too. But we need to focus on these marginal gains too.

A cure will come and I am cautiously optimistic about the potential for gene therapy. We know that in three years, with FDA approval, we may start a small trial to test the first types of gene therapies that are starting to become available. There are lots of risks associated with any Phase 1 trial. It is not clear to me if this type of therapy will be successful. A trial takes many years to complete before most of us will see the benefits, and it is also unclear how this will affect Carys who will most likely be an adult by the time is available.

For this reason I am also incredibly excited about the Trofinitide trial which will soon enter Phase 3. Although this will not be a cure, it is something that, in the next few years, I hope will make a difference to Carys. Even a small gain in her ability to sit, walk, use the eye gaze will make a big impact on her life.

Here is how we fight back, and how I believe we start winning this war today. It is the advice I wish I had received when we first received our diagnosis.

We should view all potential treatments with caution, and not allow ourselves to relax or to become complacent. There are things that we do every day that helps us win this battle, and helps me fight for Carys.

  • Every day we maintain her ability to sit and stand
  • Every day we personally ensure she has eaten enough calories
  • Every day we work on her communication, both low tech and eye gaze, at school and at home
  • And every day I love her, cuddle her and let her know that I am proud of her and include her in everything we do as a family

The best thing I ever did was to presume Carys’ competence, and to treat her accordingly. It turned out that she was waiting for this all along. She also had a lot to say, and that surprised me, delighted me, and motivated me to continue the fight for her.

We would love to hear what the Rett resistance means to you? Should we keep this campaign going after awareness month? And what form should that take?
Real flags? Real tees? Should we continue creating posters and profile frames?

We appreciate hearing from everyone who reads our blog, and shares our message.

Also, please ask if you are unsure about the science and detail behind any of these trials. I am constantly learning and am happy to be corrected if I have misunderstood a study.

 

Revolution

Still water

 Your child is not “retarded”.

This is very close to my heart, every day I read comments from families about the intelligence (or lack thereof) of people living with Rett syndrome.

I feel I need to rectify what is being said.

I know it’s not their fault, families (and friends) get their information from people & organisations who represent Rett syndrome. They are the root of all information that is distributed about the disorder, which is why I feel it is so vital for them to get the proper message out.

I hate using the word “retarded”, I am VERY aware of how damaging it can be. Yet it seems only the use of this word can get people to sit up and take notice when I tell them their child is not stupid, that she doesn’t have the brain of a seven year old (unless she’s actually seven, then she does).

Currently we have no evidence to determine how smart your child is.

We have never been able to measure intelligence, and we (as humans) were even more useless at measuring it when someone decided people with Rett syndrome must be “retarded”. We are getting better though.

Here are the things we know:

  • Rett syndrome affects the brain (but we don’t know how it affects intelligence)
  • It affects the patterns we form to do things. 

In 2012 Dr Aleksandra Djukic, of Montefiore Medical Center published a study about the cognitive ability of patients with Rett syndrome.

Detailed in this Science Daily release –https://www.sciencedaily.com/releases/2012/04/120417143812.htm

The outcome of this paper was that we needed further studies to deduce the impacts of Rett syndrome on intelligence, but the fact was that it had been underestimated for decades.

Intelligence and communication

They detailed in the paper that to measure intelligence in people with Rett syndrome they would need eye gaze devices. As anyone with an eye gaze will tell you, it is not easy. You don’t just pick it up. It is a long slog of committed communication strategy to use it effectively.

So even with eye gaze devices, there are still huge obstacle to overcome.

The way that they used eye gaze devices is through modified retinal observation, which generates heat maps of what people with Rett are looking at as they are shown visual stimuli or asked questions and then shown answers.

For example I will show you a picture filled with insects and ask where the butterfly is. When you look at the buttefly, your gaze is recorded. The more people that look at that butterfly the hotter the heat map will be and it should absolutely correspond with the butterfly in the picture.

This indicates that you understand the word “butterfly” and can pick it out from other entities in the picture.

This is a thin slice of eye gaze tech, but also the only slice that we can use effectively on people that haven’t been trained in the use of the device.

There are other devices that are being used to measure neural activity, devices that show how the brain lights up in response to visual stimuli, questions and conversations.

We are getting closer to the point where we can prove intelligence in non verbal people.

There were so many things that came out of that study that were hugely important to people living with Rett syndrome, which we seem as a community to have glossed over.

FYI Rett syndrome is not AUTISM, Rett syndrome is its own disorder. It has been re-classified out of the Autism spectrum.

There are people who have both Rett syndrome and Autism. This is incredibly important because their educational approaches to Rett and Autism are almost polar. Children with Rett syndrome love social interaction and are stimulated by socially weighted stimuli. Autism is almost the complete reverse of that.

I digress and I will cover the differences between Autism and Rett in other blogs

There are things we do share with Autism though. Here is an excerpt from a Scientific American article

Researchers have long considered the majority of those affected by autism to be mentally retarded. Although the numbers cited vary, they generally fall between 70 to 80 percent of the affected population. Meredyth Edelson, a researcher at Willamette University, went looking for the source of statistics, she was surprised that she could not find anything conclusive. Many of the conclusions were based on intelligence tests that tend to overestimate disability in autistic people. “Our knowledge is based on pretty bad data,” she says.

I’m not surprised she couldn’t find anything conclusive.

You can read the whole article in Scientific American here – https://www.scientificamerican.com/article/the-hidden-potential-of-autistic-kids/

Intelligence is plastic

What that means is that intelligence is malleable and changeable.

Education is a great way to change intelligence. The brain is a muscle and it needs to work, the more it works, the smarter we get. Leave them to stagnate and they will, because they will lose interest in everything around them, just like every other child in the world, ever.

Working on their education is one of the most important things you can do.

It is also why I’m such an avid proponent of Susan Norwell’s work. Susan Norwell doesn’t only educate communication strategies, she educates with methods of reciprocation.

TV is a reward, not a baby sitter.

I believe that people living with Rett syndrome are affected by the same intelligence bell curve that everyone in the world is affected by, there are smart ones and not so smart ones. Most importantly, there is a huge need for us to break through this barrier of silence and discover the truth of it.

This is a study worth funding.

A cure, in my opinion, is never close enough for us to ignore the fact that we are treating people with such an enormous lack of respect. These people deserve consideration and opportunity, the same rights we accord every able bodied individual.

Let’s not start every conversation by assuming they are stupid, let’s start every conversation by assuming they are not.

I can guarantee if you do, you will start to change your behaviour.

If I’m wrong I’m guilty of getting people to show respect and consideration to someone who deserves it. I’m guilty of making then believe that she is not a percentage of the person she is.

 I will never feel any remorse for trying to get people to believe in their child, to believe in their ability, and to provide them with the best opportunity they can.

So we are stopping where we started.

Your child is not “retarded”.

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The study on intelligence was over 5 years ago.

In that study Dr. Djukic stated she believes the results of this study highlight the need for more comprehensive investigation.

5 years ago we said we need to know more.

5 years ago we said we need to know more about something that could be HUGELYbeneficial for every person with Rett syndrome and is achievable.

A new study would have a MONUMENTAL impact on Rett syndrome and the people who live with it.

A study which would literally change their lives.

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AS A SIDE NOTE : NEWLY DIAGNOSED

New studies show that the earlier you start the greater the benefit from an eyegaze device.

Make this your focus.

Still water