I am more than Rett syndrome but Rett syndrome is more than me

Why Rett syndrome is not rare

Let me explain my thinking.

Technically, because Rett syndrome affects fewer than 1 in 2000 it is listed as a rare disease.

I’ve been making collages of people affected by Rett syndrome and although I have a load of girls (and boys) in these collages, it’s not even a micro-speck of the real numbers of people affected by Rett syndrome.

It’s important to me to [em]separate the girl from Rett syndrome[/em] but also to show that Rett syndrome affects so many people.

She is a unique and amazing individual, she doesn’t need a disease to define her as rare.

We often talk about Rett syndrome being a rare disease, but what does rare mean?

We have two stories we tell, we tell our friends and family what Rett syndrome is and how it affects our child, the child they know and love and have exposure to. Through social networks me meet and see other children, but for many, bar parents, contact remains limited.

The other story is getting people to understand that thousands, worldwide, are affected by this disorder.

Poster factsRett syndrome is bigger than people think and I think we do damage to our need by calling it rare.

By saying this thing is rare, we create the impressions that there are other more “common” things that need to be addressed before Rett syndrome. It’s how, as humans, we try to prioritise. If something affects more people, we “prioritise” and say lets go sort this more common occurrence out first.

Applying the rare label to Rett syndrome creates a priority in the minds of people who have no connection to Rett syndrome. I’m not calling them cold, I’m not calling them callous. Their priorities are built on the perception of need.

We need to find another way to prioritise their thought process, of how we can move a “rare” disease up the chain of priority.

We are making some headway in this regard with things like the Defense Appropriations Bill which will potentially have a huge impact on our Rett syndrome studies in future. The strength of funding will bring more doctors and researchers to the field of traumatic brain injury. I would love to see more effort made in aligning ourselves with studies like this.

Let’s talk about rare.

Let’s break Rett syndrome down, Rett syndrome is considered rare, when 17 children every day are born with it. Figures now estimate that 1 in 10 000 people are affected by Rett syndrome. I’ve extrapolated this before in my Rare Disease Day posts, but based on the statistics there could be around 700 000 people in the world that are affected by Rett syndrome.

You might think that’s small according to population statistics (I don’t think 700 000 people should be classified as rare), but let’s consider what makes up Rett syndrome.
Among other symptoms, Rett syndrome includes :

  • Loss of speech (not rare)
  • Loss of motor control (not rare)
  • Scoliosis and fragile bones (not rare)
  • Seizures – including Rett episodes (not rare)
  • Compulsive hand movement (not rare)
  • Irregular breathing (not rare)
  • Apraxia or Dyspraxia (not rare)
  • Extreme anxiety (not rare)
  • Gastrointestinal issues (not rare)
  • Impaired circulatory and cardiac function (not rare)
  • Parkinsonian tremors (not rare)

Do you see what I’m getting at?

While Rett is considered a rare disorder, the symptoms of Rett are most definitely not.

  • 1 in 26 people have epilepsy
  • 3 in 100 have scoliosis
  • 6.3 million people have Parkinson’s

I can’t even begin to get the numbers of gastro issues and irregular breathing.

That means that hope for Rett syndrome does not only come from our field of research, it comes from others too. While our scientists tackle a “cure” and also try to treat other symptoms, other areas of research will and are having an impact on Rett syndrome. Just as Rett syndrome will have an impact on other disorders and treatments.

8 years ago (in 2007) Sir Adrian Bird reversed Rett syndrome in the Lab. 16 years ago (in 1999) Huda Zoghbi discovered the gene responsible for Rett syndrome.

As a community we need to be smart, we need to be collective, working together towards the only meaningful goal, and that is progress.

With all this in mind, I’ve been working posters that people can use to explain Rett syndrome. They will be available for sharing on Facebook, but I’ve also been making sure they are available for you to download and take to your favourite printer.

I will make sure there is a version that has space for you to add your own information, to raise for your daughters needs, or your favourite charity. The choice is yours.

I will link the big download poster once I am totally sure I have no duplicated pictures and also once I’m happy that I have all the girls (and boys) included.

Please message me if I you sent me a picture and I haven’t included it.

Also, I can make more posters, so if you never saw the initial request and you want your daughter to be included. Send me her picture for followup posters.

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More

Neuro-habilitation is a young field; its roots are found in the Neuroplasticity. We are constantly discovering more neuroplastic programmes that are having an effect on Traumatic Brain Injuries and also possibly on Neurodevelopment Disorders like Rett syndrome.

There are habilitation and rehabilitation programmes that will have an effect right now and in future.
Two techniques spring to mind, Feldenkrais and CME, both of which are used to reset neurology in patients, both of which have shown some incredible results in the field of Neuro-habilitation.

I’m going to blog about both of these in the next few weeks, as well as the importance of PT.

I am more than Rett syndrome but Rett syndrome is more than me

Hello. I’ve got something to say

The eye gaze device has given girls with Rett syndrome a voice that they can control.

Hello Esmé

They get to intentionally choose what they want to say; it’s not interpreted by a parent or a carer.

Some girls with Rett syndrome have always been able to communicate, but it’s rare. Rett syndrome blocks so many communication avenues that it makes it practically impossible.

For the first time in Rett syndrome the playing field is being levelled. The eye gaze device is allowing more girls to access a voice, something that has long been denied to the vast majority of girls.

Getting your mind around the eye gaze device is hard.

The hard part is understanding what needs to be done to help your child communicate, and building the screens to do it. There are also time commitments and the stubborn need to stick to routine.

Yeah, you know this…so what’s the point?

I think the most important thing when I talk to families about Rett syndrome is honesty.

Honesty is very often lacking in our discourse in this community, not intentionally, often because the truth hurts and nobody likes to pile hurt on.

Although sometimes we might be too honest, but that’s another story.

So let’s talk about this.

My advice (which will be controversial)

  • Raise for an eye gaze device before anything else
  • Raise more than the cost of the device.
  • You are the gate keeper.
  • Don’t stop at low tech

Eye gaze device first

The first thing you should raise money for when you get a diagnosis of Rett syndrome is an eye gaze device.

It is one of the most expensive things you will be raising for.

For many people the first time you raise money will be the most you ever raise, by a considerable amount, if you give that money away to another cause (however worthy) you’re going to struggle for a long time to raise that amount again.

Don’t get suckered into distant promises, attend her needs now.

It’s more than just hardware.

When you get it, you will need to learn how to use it.

Make sure you add money to your raise amount which will cover local conferences and/or access SLT’s or organisations that can support you. There are also online courses that are designed to help you. Don’t be shy to do this. Otherwise your brand new eye gaze device is just an expensive paper weight that will generate a ton of guilt.

When someone tells you she is too young, she has to prove competence, blah blah blah, tell them get stuffed.

That’s like saying don’t buy your child books until they can prove they can read.

Quite frankly it’s bullshit. Don’t let people stand in your way to giving your child a better quality of life.

There is no such thing as too young.

Yes girls regress in Rett syndrome, but childhood is also the most vital stage of learning for children. Whilst she might be going through regression, or just have gone through regression, her brain is in a chemical state of hyper learning.Hello Ava

Don’t lose this vital opportunity to take advantage of those chemicals. You need to burn pathways in her brain and this is the best time to do it.

Treat the eye gaze device like you would learning a new language, the earlier you start the better.

That said, it’s proven that girls with Rett syndrome never stop learning. She is never too old to access these devices. The older girls already understand, so they’re going to pick it up faster than learning a new language.

You are the gate keeper.

The eye gaze device is not easy, it’s as big a learning curve for you as it is for her. You are going to have to invest time and make a commitment to training yourself.

Not just in how an eye gaze device works, but what are the best methods to use it. Then once you are trained, you are going to have to FORCE it into your routine.

You are the gate keeper to her potential.

I realise that a lot of parents have to live with the guilt of feeling like they have to be a super person, and I’m truly sorry that you are in this position. I get it, it’s hard. It’s turned your life upside down.

Some people are going to have a go at me about how difficult this is and how I don’t know what it’s like to live with the torments of Rett syndrome on a daily basis.

You’re right, I don’t, I have no idea what it’s like.

It’s easy for me to say that the changes you make now will make a fundamental difference to your life in future and more importantly hers.

Ultimately the responsibility for this decision lies with you, because you are the gate keeper. You choose whether to open the gates or not.

Don’t stop at low tech.

Low tech is incredibly useful to establish things like a clear “yes” response; it doesn’t run out batteries; it doesn’t explode when it gets wet. But low tech is also an interpreted voice.

It relies on someone interpreting intention.

Which is very different to her controlling what it is she wants to say (even if the boards on eye gaze device are augmented). *I’ll let Jo explain later 😉

If you truly want to give her a voice, then invest yourself in the needs of the eye gaze. 

Alternatively you will find yourself settling for something that will ultimately be a source of frustration. Until the eye gaze, low tech was the only recourse, but now you have the ability to take this a step further.

Once again, don’t let people stand in your way to giving your child a better quality of life.

About eye gaze devices

There are a bunch of eye gaze devices available and people often ask which is the best device to get.

In my opinion the best device is the iSeries+ from Tobii Dynavox, there are various other devices. but you will always find yourself yearning for the iSeries.

The other models like the PCEye Explore will only ever prove competence (a pet hate of mine) and PCEye Go is a great supportive or mobile device. If I was a parent though, my end goal would be an iSeries.

It’s an expensive beast and it’s up to you whether you want to compromise on cost; the EyeGo is substantially cheaper.

Don’t compromise.

Why do I hate the “prove competence” statement?

Because it’s essentially bullshit and an argument people use to block girls from accessing something that should be provided without question. Competency testing is a crutch for asshats to deny voices to people, under the guise of it looking like it’s a “considered process”.

Presume CompetenceHello Sophie

When you watch girls expressing themselves on eye gaze devices on the internet, they are not lucky, they are not lead or pushed in that direction. These girls are responsible for their decisions on the eye gaze, they are in control of what they say.

The faster you learn to accept that statement the easier this process will be.

Simone (Jo’s Mom) says [highlight]“If I don’t believe in her, who will?”[/highlight]

Believe in her. Believe in her ability. 

The importance of literacy.

David Koppenhaver spoke about the importance of literacy in a Webinar about AAC (Augmentative and Alternative communication) last year. How (AAC) users can never truly express themselves unless they have not only the ability to read but to write as well.

You can have 100 pages of symbols that you understand but if the words you want to express aren’t there you’re in trouble.

This is only the first step in enabling our ambitions for people who suffer with Rett syndrome, we have an end goal…literacy.

“Kind of a big deal”

Kind of a big dealI’m incredibly lucky to be friends with a very special young lady on Facebook, who uses this technology to voice her fabulous sense of humour and her incredibly astute observations from her perspective.

In a very short time Jo has forced me to question how I perceive Rett syndrome and how I treat people with Rett syndrome.

This is what Jo (who incidentally has Rett syndrome) has to say about AAC.

 

A lot of people have been asking me what my opinion is on having a device be phrased-based instead of selecting or typing out individual pictures or words. I believe there is a time and place for both.

My software allows me to save and memorize sentences and words as I type.

I decide what “phrases” are readily available for me to re-select.

This is no different than the auto predict on your phone, used to quickly type something.

A communication device is not intended for you to hear me say what you want to hear. It is meant for me to be able to able to express myself freely. Unless you are a mind reader, how do you know what I want to say? How can anyone predict every single thing someone wants to say?

If I only have the option of selecting pre-made phrases someone else has written then I am only independently choosing what you think should be said and not what I want to say. BIG difference!!

Having certain sentences close by to quickly say in a hurry – great. Being subjected to your opinions and not being able to express myself authentically – not cool.

Just my opinion….

Thank you Jo, your opinion is gold 😉

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I’m sorry it’s taken so long for me to blog, as some of you know I’ve recently started a new job. I was meaning to write this blog a long time ago, but sometimes life happens 😉

http://www.tobiidynavox.com/devices/

Hello. I’ve got something to say

A worn path

Why walking and standing therapy is important.

Humans are designed to stand, walk and run; it is a primary function of our physiology and why we are built the way we are. Our ability to stand upright differentiates us from so many other animals; it also means it’s vital for our natural state of growth.

We need to stand because it:

  • Strengthens our bone density
  • Stretches muscles
  • Improves respiration
  • Enhances circulation
  • Aids digestion, bowel and bladder function
  • Facilitates hip formation
  • Improves skin integrity
  • Strengthens our core
  • Improves balance

These 9 points all lead to improved wellbeing, alertness and sleeping patterns.

Whilst the simple act of standing does all these wonderful things, the upgrade is walking, but learn to stand before you walk.

Why is it necessary for us to keep people with Rett syndrome walking or trying to walk?

When I say walking, I include the therapeutic aids like treadmills, harnesses and the Upsee.

Walking is Therapy

There is a lot of convincing study happening around the world that is proving that walking is therapy for both the human body and mind. Conscious walking is being taught as a way to slow down the onset of Parkinson’s Disease.

These reasons alone are enough but there is more.

Walking is a superb conditioner for our brain, there is scientific evidence that walking improves concentration, learning-ability and abstract reasoning.

Walking is not a linear progression, the elements we use to learn to walk all overlap so it’s okay if it’s mixed. Walking requires balance, muscle strength, body & spatial awareness and most vitally the brain.

Balance

The first thing a child has to learn in order to walk is balance. Help your child master balance and then move onto gait. If balance is mastered the gait is easier because the balance networks are active and working.

Walking memory (The brain)

Technically

WalkerAs we develop skills our brain creates synaptic pathways which facilitate the “memory” of a learned skill. Learning a skill is a linear process, where the synapses fire along a forming pathway. When the pathway is formed, the skill is learned.

It has been proven that when we don’t practice a learned skill after a period of time we will lose that skill. This is called learned nonuse, which is why it is so important to maintain the skill.

You can also lose a skill due to brain damage but it has been proven that the skill can be re-learned by using another undamaged part of the brain. It is the power of neuroplasticity that allows one part of the brain to do what another part was “designed to do”.

This process is called Neurorehabilitation. In Rett syndrome, quite often walking has not been learned, which is why the process of teaching this skill is called Neuro-habilitation – because it’s about teaching new abilities, not relearning abilities.

Rettsyndrome.org announced research into Neuro-habilitation funding last year.

How I describe this process for myself

The way I understand this is to think about walking from my house to my best friends.

The first time I walk, I figure out how to get there, traversing possible obstacles and sometimes even backtracking to choose an unobstructed pathway. Once I have made it to the house, it’s a case of remembering how to do it again.

Over a period of time I begin to wear away a path. That path get’s wider and wider as I use it, until it’s completely defined. Walking to the house is now second nature and carved firmly into my memory.

What if we were to move to another house?

I would have to learn a new path. The knowledge of walking remains, but I have to find a new pathway to quickly and efficiently get to my goal.

The principles of how our brain learns to walk are explained especially well by Dr Steve Kaminsky here:

Four phases to building networks.

Phase 1. Unconscious incompetence.

Watch a baby move his/her arms, legs and head. They are moving them all the time and although they do not know what they are doing, their motor sensory networks are being set up.

These networks are the foundation of all movements that they will use later in life.

Phase 2. Conscious incompetence. 

The baby or child knows what they want to do but are incompetent in achieving their goal. Reaching for their spoon, or trying to get the spoon to their mouth, or in the case of walking they can stand and take a few steps and fall.

The networks are being built and the individual has to really concentrate to make the action happen, but the networks are not completely formed.

Phase 3. Conscious competence.

The child knows what they want to do and they can do it but are actively thinking about every movement. The child walks across the room without falling.

The networks are all firing and they are being wired for the future.

Phase 4 Unconscious competence.

The child no longer thinks about walking, it is happening without thinking about it. They can change direction without thinking about it, they can do something else while walking.

The network is fully integrated into the central nervous system.

With Rett we have to work harder than normal because the available pathways are fewer in number. So our hill is steeper to climb because we have make those networks and continually fire them to make sure they stay wired. Yes, it is hard but it is why the physical therapy, occupational therapy and cognitive therapy are so important. These activities build the networks and keep them active.

It is important to remember, as with any child, failure is part of learning and there cannot be success without failure. Do not be afraid of failure because that makes the final success more meaningful when it finally happens, for you and your child.

Maintenance of therapies

These walking and standing therapies are incredibly important to the state of your child’s health, but I do know that it’s not as easy as this. Some of the girls develop twisted feet, or taunt tendons which make standing and walking impossible, even in braced or harnessed environments. Sometimes scoliosis or kyphosis will bend her so she finds it impossible to stand straight or without pain. The decision on how you tackle these symptoms is yours to make as a parent.

Physiotherapy and massage are important for muscle development and integrity. When you take your child to the therapists ask questions to understand what they are doing and why. Ask if it’s something you should be doing at home too.

A steeper hillYou’ll be surprised how much the body can handle, as an ex-sportsman one of the things I used to (and still) hate was a sports massage, they are incredibly painful, torture in the hands of a master, but there was no denying how beneficial they are. Sports massages are deep muscle massages designed to release the fascia (fine sheath that covers your muscles) and encourage fresh blood to the muscles, to get rid of any toxins, like lactic acid.

I’m not saying rush out and start to torture your child (anyone who’s had a sports massage will know what I mean), I’m saying that it is surprising how hardy we can be.

Taking care of a child or person with Rett syndrome is already a full time job, I know how busy you are. I know that it’s a struggle to find the time to do all these things.

Try combine existing opportunities with these practices. Like give her time in the standing frame when she is watching TV and give her muscle massages while you’re bathing her.

If you have an Upsee, from FireFly, write a plan for walking practice. The Upsee is therapeutic training, not just an awesome way to enable your child.

Through intense physical therapy, occupational therapy, and cognitive therapy we may be able to form new networks that aid in Rett syndrome.  If any of the drug therapies correct Rett biology, i.e. form more networks, then we have an active program to be ready to fire and wire those networks.

On the subject of walking

While I was writing this blog a friend of mine, Eryn Rae, shared a story by Shane Burcaw who suffers from Spinal Muscular Atrophy and is confined to a wheelchair. In the story, a young girl asks Shane “What is the first thing you would do if you could walk?”

He replies “Skateboard”.

Then he spends some time thinking about it later and after much consideration, he says “I’d walk to my kitchen and make myself a cup of coffee.”

I think sometimes we think about Rett syndrome we think about all the amazing things it takes away, the ability to skateboard, to surf, to ski. What Shane’s post brought home to me is that Rett syndrome often steals the ability to perform the simplest tasks, not the exciting tasks.

Rett syndrome steals lifes simple moments, as well as lifes precious seconds.

We are on a quest to take them back.

To read Shane’s full story click here

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The album for this blog is available here, I will continue to add more images over the weekend.

rettsyndrome.org has information about Neuro-habilitation here. http://www.rettsyndrome.org/blog/neuro-habilitation

The Upsee by FireFly is available here – http://www.fireflyfriends.com/upsee

More Reading Materials:

Soft Wired – Micheal Merzenich

The Brain That Changes Itself – Norman Doidge

The Brain’s Way of Healing – Norman Doidge

Remarkable Discoveries and Recoveries from the Frontiers of Neuroplasticity – Norman Doidge

Spark: The Revolutionary New Science of Exercise and the Brain – John Ratey

 

Once again a massive thank you to Dr Steve Kaminsky, for always being there when Iask questions.

A worn path

Believe in me, like I believe in you.

Rett syndrome education and how it’s helping us all.

We all believe in the potential of our children; we all hope that our child will achieve something meaningful in their lifetime. We also have different ways to measure success, and sometimes it’s incredibly hard not to pressure your drive for your child’s success onto their shoulders.

Children with Rett syndrome are no different. For a long time parents have been saying “You’re under-estimating her, your understanding of her intelligence is wrong.” And at last we are slowly getting the proof that we need.

Products like the eye gaze from Tobii are not only bridging the gap in communication between Rett syndrome and the world, they are also allowing us to more accurately prove intelligence. These devices are not the only thing making the difference; it is the belief of Educationalists and Speech and Language Therapists like Susan Norwell and Sally-Ann Garrett that are pushing the boundaries of our perception. As our learning and teaching techniques get better, it drives change in the base. The acceptance of that change is sometimes slower than anticipated or hoped, and we are left dealing with the legacy of old experience and beliefs.

Steve Kaminsky believes that we can’t measure the intelligence of people with Rett syndrome right now, because we haven’t developed a method to do it properly. So right now, anything anyone is telling you is based on limited knowledge and even more limited techniques.

This created a problem for any of the older parents and girls, who’ve not only had to fight the symptoms of Rett syndrome, but have also had to deal with the lack of faith in her intelligence.

The fact is, the more we get to crack the prison of Rett syndrome, the more ability we discover. We’ve also learned recently that Rett syndrome doesn’t stop people progressing, and that they keep learning after regression has passed. Focus on what we are learning, not on what we used to know.

This is something the internet can change, and not just the internet, organisations too. Which is why I want to talk about Rett Education UK and why it’s so important to our future as a community.

Education drives change; it drives change in belief and understanding. It creates new understanding, changes perception and sets new expectations. As a community, we fight to change the perception of Rett syndrome on a daily basis, but great education enables group change, and massive shifts in thinking.

Part of the problem we have in Rett syndrome right now is awareness based.

This is not just the awareness in general of Rett syndrome, but more importantly the conservative and stagnant knowledge built on old information from before a time when we could access just a little bit of what people with Rett syndrome are capable of.

Not only are we educating the world about Rett syndrome, but we are re-educating the people who should know.

I don’t blame these people for not having the latest information, because really the onus should actually be on us to change this. Rett Education UK is doing that; they are focussing on change at a professional and family level.

Let’s face it, very few people can access all the latest and greatest stuff out there. Staying on top of Rett syndrome is a full time job, so when an organisation like this comes forward and shares knowledge for “everyone”, then this is a good thing. Personally, I can’t thank them enough for it.

At a time when our professional pool is shrinking, we need to be taking the best possible care of the people who can help us.We need to be getting them the most current and the best information we can, to make sure our girls are getting the best possible treatment all the time.

The feedback I’ve had from the Birmingham Rett Education Event last year was incredibly positive and I’m thankful that an organisation, made up of people who are clearly passionate about this, have taken it on.

Rett Education Conference 2015

This years Rett Education conference shares the weekend with RettUK’s family weekend, the whole event is covered here, and I thoroughly recommend it.

The Rett Education conference is at the Hilton Hotel in Northampton during Friday 9th October, 9am to 5pm, with its focus on communication and education.

Tickets for the Rett Education UK day are available from their web site at a cost of £79. www.retteducation.com

Speakers include:

  • Susan Norwell – inspirational and informative presentations on education and communication topics.
  • Dave Hewitt – importance of intensive interaction as a communication strategy
  • Hector Minto and Kim Elliot – will be explaining many aspects of eye gaze technology and describing its benefits
  • Sally Chan – funding for eye gaze equipment.
  • Shonette Bason-Wood – is an early years (EYFS) motivator and international educational trainer and motivator.

 

 

Believe in me, like I believe in you.

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.

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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

What is Rett syndrome?

Rett syndrome is a disorder that mostly impacts girls.

It affects many parts of the body, but because it influences development of the brain it is primarily seen as a brain disorder.

It is currently estimated that around 1 in 10 000 girls have Rett syndrome.

Rett syndrome is genetic, but it is not hereditary. It is not passed down from parents (although this can happen, it is very rare), it is a random mutation, which can affect any child.

Generally a child only shows signs of Rett syndrome between 6 to 18 months. They will go through a period of regression, where they lose the ability to perform certain learned actions, some of which they may have already been doing.

Sometimes the child will not appear to go through regression, but is perceived to have a slow development arc.

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

Why only girls?

girlsRett syndrome does affect boys, but because it is a mutation on the x chromosome (girls have 2 x’s) boys don’t often survive.

There are cases where another disorder can enable boys to survive Rett syndrome such as Klinefelters Syndrome and Somatic Mosaicism, but it is rare.

There are boys who do have Rett syndrome however, and even though it’s rare, it should not be forgotten.

Mutations, Insertions & Deletions

MECP2 (the gene responsible for Rett syndrome) mutations come in a variety of forms:

A missense mutation substitutes one amino acid for another.

A nonsense mutation stops a cell from building protein.

An insertion adds an extra piece of DNA

A deletion removes a piece of DNA

A frameshift, shifts the location of a group.

Rett syndrome and it’s effects can seem very random, people with the same mutation can present completely differently, but there is no “easy” version. For people with Rett syndrome, it will affect them for their entire life.

New diagnosis

If you have recently received a diagnosis of Rett syndrome, it’s important to know right away that not everything you read on the internet is relevant today.

Rett syndrome is a better diagnosis today than it was 10 years ago. There are currently 8 drugs in trial to help alleviate the symptoms of Rett syndrome, drugs that will have a meaningful impact on the life of your child.

In 1999 Huda Zoghbi and her team identified the gene responsible for Rett syndrome (MECP2), since then there has been rapid progress in the field. In 2007 Sir Adrian Bird reversed Rett syndrome in his lab.

Our research, science and medical community work tirelessly to bring results and options back to everyone who suffers as a result of Rett syndrome. It’s not just medical results too, computers are unlocking the ability to communicate through the use of eye gaze technology.

Every child who has Rett syndrome is different, there are so many factors that affect the signs or symptoms of Rett syndrome. The future for your child is unique, there is no defined Rett “path”. Each child progresses differently, it’s so important to become champions of physical and occupational therapy.

“We need to keep our girls in the best possible condition for when the cure comes.” – Dr Sasha Djukic

Even children who share the same mutation will develop very differently, the severity of Rett syndrome has little to do with their mutation, and much more to do with methylation but also with therapy.

We are discovering so much more about Rett syndrome all the time that is changing old beliefs/assumptions. Believe in your child, believe in their ability, they are smart.

“Assume their competence and reach for the stars!” – Susan Norwell

Why I say girls instead of females and boys instead of males.

I know that Rett syndrome mostly affects girls of all ages, I know that females is probably a better a term, but I don’t like to use females, or males. I don’t like to use it because Rett syndrome affects people, not genders.

Saying “girls and boys” is just much more personal to me.

While this is all about Rett syndrome is, fundamentally it’s about what Rett syndrome does.

Rett syndrome steals the opportunity for a normal life from every girl and boy it affects.

I chose to fight Rett syndrome and I choose to be relentless.

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Future blogs

I wanted to mention two future blogs I plan on writing, both of these are so incredibly import and are also too big to be hidden away in this blog.

  • Methylation
  • Rett syndrome and Autism

A very big thank you to Dr Steve Kaminsky, who is always so incredibly helpful. He makes it so much easier for me to do this.

I’d also like to thank Anna, I really don’t know what we would do at Army of Us without her and Faith who’s so patient with me and my crazy grammar skills 🙂

What is Rett syndrome?

More about Trofinetide (NNZ 2566)

Trofinetide (NNZ 2566) increases the amount of connections in your brain that control thought and movement, more connections are good.

Rett Biology
People born with Rett syndrome have fewer synaptic connections. They also have overactive microglia, which are responsible for the maintenance of these “connective structures”.

What we hope to change
Trofinetide  does 2 things:

  • Helps form new spines
  • Quietens the gardener (microglia)

More spines mean more synaptic connections.

Quietening the gardner (microglia) means that fewer spines are pruned which means even more synaptic connections.
NNZ 2566

Who can take it?
Trofinetide is an oral drug, there is no specific age or sex requirement. We believe that it will be available for boys and girls, regardless of their age.

However, drugs require clinical trials before they are accepted for use, and there are so few boys that it’s incredibly difficult to run an effective trial. That doesn’t mean that boys won’t be able to access it, it just means that it will take a different pathway through the FDA. The pathway will be dictated by the success of the girls’ trial.

Thank you to DR. Steve Kaminsky for everything he does.
Rettsyndrome.org

More about Trofinetide (NNZ 2566)

The chain of trust

It’s difficult in the modern world to give over the care of your most treasured possession, your child, but the reality is that this is very often a requirement of modern life. In the everyday chain, teachers, doctors, baby sitters, they’re all part of their lives and you have to trust in the system that they will take care of their responsibility.

Anyone who shares a responsibility for care of your child becomes a link in your chain of trust. For people without disabled children, this chain is far smaller than the one you develop as the parent of a child with a disability. The complexity of their disability will often mean that even more people are part of this chain.

It extends from members of family or friends right the way through the care pathway of teachers, therapists, drivers, nurses, doctors, specialists and various other people. Anyone who helps take care of their needs or touches their lives.

What happens when the pool of people you are required to trust is huge?

This is what it is like for a parent of a child a with Rett syndrome. The sheer number of people they are required to trust with the care of their child is big. It’s a necessity, special training is often needed for things as simple as babysitting. Which means they need to grow that bubble of trust to people who they’ve never met before.lovesomeone

This chain of trust is vital to any parent, but especially the parents of a child with a disability, and trust in the chain is essential. People in the chain don’t only have a responsibility to the child, they also have a responsibility to the chain.

What do I mean by that?

When something happens in the chain and no one takes responsibility for it, it tarnishes all the links that are joined to that area, because you don’t know where the mistake was made. So you start to mistrust a much bigger chunk of the chain.

For example

Recently a friend of mine had a terrible experience: she put her daughter in respite so she could attend a family funeral. She later got a call to tell her that her daughter was in massive pain and had been rushed to hospital. She found out that her daughter’s leg had been broken sometime after she had left her in the care of others.

In the chain of care, her daughter had gone to the respite hospice, then placed on the school bus, which took her to school where they noticed that she was clearly in a lot of pain.

Completely besides the point that moving anyone with a broken leg is incredibly dangerous, no one is taking ownership of where the accident happened. So instead of dealing with the actual cause, Mum is left to worry about where this accident took place. All 3 parts of the chain are tarnished by this experience, and at least two of them are not responsible.

Problems in the chain can ruin lives, not for days, but for a lifetime. As your trust in the chain deteriorates, so does your willingness to accept help from people within and outside of the chain. You draw further and further into a self care bubble and become more and more focussed on being the constant carer.

Being a constant carer is also unhealthy, not just for you, but for other family members too. In Rett syndrome the girls are very definitely social, they love friends, they love to play, they love to be part of a bigger life. So keeping them chained by the chain, is not only painful to you, but painful to her too. The only way there can be social release is to have trust in the chain.

Parents are pushed into a position where they have to reaffirm every little detail with the people in the chain. Constantly reminding them to make sure not to take their daughter out into the cold or the rain, and to keep her warm. To make sure she is fed, and has liquids, that she’s had her medication.

That something as simple as having her shoes on the correct feet is done. (I’m not kidding, some of the girls have been sent home with the wrong shoes on the wrong feet). How does a non verbal child (or adult), that has no control over their body, tell you when something is wrong and what it is?

Trust is like an eraser it get's smaller & smaller with every mistake.So what does this mean?

If you are part of the chain, a carer, a baby-sitter, a doctor, a teacher, a bus driver, a social worker, a therapist or anyone in the chain, please:

  • be patient
  • pay attention, listen and take notes if necessary
  • take responsibility
  • read her notes
  • give feedback
  • keep the parents informed
  • be proactive
  • communicate with the links in the chain your are connected to

Remember these parents are only interested in one patient, their child. They want you to treat her as an individual. Keep in mind, your actions will not only affect the child, but affect the chain of trust too.

Let’s try to fix what we can

There are so many things with Rett syndrome that we cannot fix right now, because they are (currently) beyond our ability. Which is why taking care of things we can fix should absolutely be our focus.

I understand accidents happen, but degradation in trust is not because of accidents, it’s because of repetition and responsibility.

Please, please take responsibility.

The chain of trust is precious, and you need everyone to help keep it strong and healthy.

The chain of trust