The Trofinetide trial is important to Rett syndrome.

We now know what Rett is, what causes it, where it’s located. We have proven it’s reversible and for the very first time, we potentially have a treatment that could profoundly impact the disorder.

Crucially, improvements were shown after less than 2 months. Because of the way Trofinitide works, we could expect to see continued improvements over a longer period of time.

This will be the purpose of a phase 3 trial.

What is Trofinetide?Subtle symptom successes

Trofinetide is designed to improve nerve connections in the brain. It modifies Rett biology which means it tackles more than one symptom at a time.

I previously wrote an article that explains Trofinetide and what it does in greater detail. I’ve put a link at the end of the blog.

What was the result of the phase 2 Trial?

The reason for trial was to prove that Trofinetide is safe for use in the younger Rett population (Paediatric).

Safety for older women was already proven in an earlier trial.

It also showed gains to the baseline which was measured by caregivers and clinicians. (Phase 3 will be an actual study of these improvements.)

It showed improvements for the largest dose, compared to the placebo, both statistically and clinically.

This improvement continued right through the treatment, to when it stopped. This suggests the may be more benefits with longer treatment times.

Caregivers and Clinicians spoke of gains from 15-16% above the baseline in 59 Days.

What happens now?

First we go through a Toxicity study (Safety Assessment), and in 2018 3rd phase trials start.

After that Neuren will apply for a New Drug Application with the FDA, which, hopefully, will be approved.

Those should be the hurdles to Trofinetide being distribution ready.

More information

Trofinetide potentially offers measurable change to every person living with Rett syndrome.

My previous Trofinetide blog(which goes into greater detail about what it is) can be found here

Trofinetide is the lead product from Neuren Pharmaceuticals, a biopharmaceutical company developing new therapies for brain injury, neurodevelopmental and neurodegenerative disorders.

The Trofinetide trials are sponsored by Rettsyndrome.org

The Trofinetide trial is important to Rett syndrome.

Boys with Rett syndrome

Boys with Rett syndrome have 1 of 2 other disorders which allow for a Rett syndrome diagnosis

  • Klinefelter syndrome (Also known as 47 or XXY)
  • Somatic mosaicism

This is because Rett syndrome is a clinical diagnosis and a clinical diagnosis for boys can only be given if 1 of these conditions is met.

Clinical diagnosisA clinical diagnosis is based on medical signs and patient-reported symptoms, rather than diagnostic tests. It is not a genetic test; genetic tests only confirm mutation/deletion on the MeCP2 gene.

This also means the boys have to present the clinical symptoms that identify Rett from the revised diagnostic criteria table (I have provided a link to the table at the bottom).

Other MeCP2 disorders and encephalopathies

It is possible for boys to have mutations on MeCP2; a prime example of this is MECP2 Duplication (MECP2 is a duplication of the gene rather than a deletion/mutation).

There are also other mutations which are described as MECP2 encephalopathy.

An encephalopathy is a condition that affects the brain.

Having a mutation on MeCP2 is not the same as having Rett syndrome, and it’s very important that we distinguish these differences. Whilst the techniques around treatments might be beneficial to all encephalopathies, they could also be harmful.

It is important, medically, that we understand the differences, and create relevant taxonomies, because the most subtle distinction can have profound affects.

We all share the same wish for all kids, family and friends who live with any form of MeCP2 disorder.

We share the same problems and in many cases the same symptoms. We also share more than that; many “Rett syndrome” organisations are also also a home to the other disorders. While it might technically be different, in our hearts we are family.

This is what we know right now, but facts change, and there’s a chance that something might change. Until then I hope this clarifies why boy with Rett syndrome are so very, incredibly rare.

It’s really important to get the right information out about Rett syndrome.

What new doctors, carers, therapists, teachers and healthcare professionals learn about Rett syndrome, resides on the web. Bad information will result in bad care, and we just cannot afford that.

 


More information

Klinefelter syndrome (KS) also known as 47,XXY or XXY, is the set of symptoms that result from two or more X chromosomes in males.

Somatic mosaicism happens when the cells of the body are of more than one genotype. Sometimes mosaicism causes intersex conditions, where some cells in the body have XX and other have XY chromosomes

In rare cases, intersex conditions can be caused by mosaicism where some cells in the body have XX and others XY chromosomes

A more common example of an intersex mosaic is 46/47 XY/XXY mosaic or mosaic Klinefelter syndrome. Essentially it means that you have both XY and XXY cells in your body.

Link to the Revised clinical Diagnostic criteria for RTT


If you need clarification, or something doesn’t make sense, please open a chat with me or email me (duncan@armyofus.org). I will do my best to explain it.

I am not a doctor, or a scientist or a clinician, but I do try take your questions to people that are. I also try run my information past qualified people to ensure it is correct.

If I am wrong, I need to know.

Boys with Rett syndrome

Regression

I just wanted to have a quick convo here because in the last few days I’ve had 2 Moms who’ve been told that their child is regressing again.

We have no way to scientifically measure regression, or even say someone is definitely in regression. It is an observational diagnosis. Which means it can be wrong. The very last thing in a long list of possibilities is regression.

If your child is feeling poor, or in an anxious period, if they are feeling under pressure, they might just chill at the baseline. What I mean by chilling at the baseline, is she just doesn’t want the performance pressure of doing anything. Too much hard work, taking a time out.

This is not something that is solely applicable to Rett syndrome, every person in the world goes through these periods.

When someone chills at the baseline for an extended period, their learned skills can be temporarily lost. That is also natural, it is called “learned non use”, essentially it means she might have to relearn some of the skills, but because of something called “motor memory”, it’s much, much easier.

Think of learning to walk like it’s a pathway.

The more you use it, the more worn that pathway becomes, the easier it becomes. Eventually over time, you have memorised every bit of that path. Then the snows come, the path gets covered, a long time passes before you go back to the path again.

The path still exists, but it’s now overgrown with bushes and underbrush, but you still remember where you are going. For the first few times, that path is hard work again, but before long it is battered back into shape.

The natural History Study run by Rettsyndrome.org has proven that people with Rett syndrome NEVER STOP LEARNING NEW SKILLS. (sorry I feel like I have to bold that)

My message is simple.

I feel Rett syndrome is so full of easy excuses for people responsible for diagnosis.

Rett is a blanket of symptoms for people, even when the symptoms that are being exhibited are clearly not Rett related.

How many times have you heard Rett blamed for everything?

Which means we, as a family, need to be sure to go through all the possibilities we can first.

Much love to you Mums going through this s**t, again. Let’s beat down that path and prove them wrong 😉

Let me just add there are some fantastic Doctors/Health Professionals out there that are adored by the Rett community. They are adored because they don’t blame Rett for everything.


*update

I’m happy to say Lucie is walking again, this not only shows the indomitable spirit of Lucie, but it also shows that we cannot just tuck a diagnosis in the Regression blanket and expect it to be enough.

People living with Rett syndrome are fighters, they are born fighting.

Believe in them, fight with them, be their army of constant encouragement.

Regression

No ordinary girl

I’ve started this post so many times, but I always come back to the same thing.

You can only be described as exceptional when you spend every second of every day proving every one wrong.

That is what these wonder women have been doing for at least 21 years (in one case 58 years).

Sherry Greenoe is 58
Sherry (58)

I can’t tell you what it has meant for them; I no longer dare to think I can understand what goes through the minds of people afflicted by Rett syndrome. My hope is that one day they will tell you themselves.

But why do I have this hope?

My journey can only be described as a journey of enlightenment.

50 years ago, in 1966, Andreas Rett first published the first description of Rett syndrome. It only was generally recognised in 1983, when a second article was published by Swedish researcher Dr. Bengt Hagberg.

It means that Sherry (58 years old) had already been living with an undiagnosed disorder for 8 years, Nola for 2 and Kristi was 1 the year Rett was officially identified.

These girls (and their parents) were given an incredibly bleak life expectancy, but this is a story of hope, one where we prove the world wrong. That is exactly what these women proceeded to do, to reset our understanding of Rett syndrome.

In 1999 MECP2, the causative gene responsible for Rett syndrome, was discovered by Huda Zoghbi and her team. Which means all of these women have had Rett syndrome longer than we have known the cause of it.

Every single one of these women has lived through discovery that it could be reversed. This was proven by Sir Adrian Bird in 2007.

These facts are huge, because it means that all of them were alive when we didn’t know what caused it or had an inkling of how to cure it. Yet they, and their families (there is no amount of acknowledgement I can provide here, these families are amazing) persevered and fought through it all.

Jolene
Jolene (33)

Our discoveries about Rett syndrome have increased massively; currently there are more than 10 drugs in testing (some in final stages), which will help alleviate many of the symptoms in Rett syndrome.

In the last few years, we have made technological breakthroughs, which have enabled people with Rett syndrome around the world to start communicating unassisted. Devices like this are giving us a window into Rett, which was previously unaccessible.

That window is proving something else to us. Once again they are smashing the preconceptions around the ability and intelligence of people who suffer from the disorder.

These women are smarter than we ever guessed and more able than we have given them credit for.

At the heart of these discoveries are the women and families (who without the help of social media) managed to overcome the most incredible obstacles, and be fitting examples of what happens when you don’t presume some form of competence. The people who founded the charities, the lifelines, the social groups, which have made our journeys easier.

Yes, what we know has changed, it has changed enormously. It has changed because of these people. Rett syndrome is a better diagnosis today than it was 50 years ago because of these people.

These women who have changed the world, by beating it, every second of every day. If that is not a story of hope, then I don’t know any.

Christopher Reeve said

“I think a hero is an ordinary individual who finds the strength to persevere and endure in spite of overwhelming obstacles.”

Whilst this quote is true for the families who spend countless hours at appointments, in hospitals, at therapy, fighting insurance companies and institutions, raising money to fix it and raising awareness to fight it, it’s not true for the people afflicted by it: my every day heroes. Because it takes something exceptional to fight every second, of every day, for a lifetime. They give me hope.

However, nothing about Rett syndrome is ordinary and these are no ordinary girls.

————-

This Album and poster(Which can be found here) currently has 107 women (A couple of young ladies are on the verge of 21, so I’ve included them).

58 Sherry
52 Nola
51 Kristi
47 Ann
43 Tabitha
42 Jennie
41 Kathy-Jo
40 Kris
40 Ciara
39 Amanda
38 Shelly
37 Heather
36 Nicole
36 Laurissa
35 Tala
35 Shana
35 Renee
35 Lisa
34 Shelly
34 Samantha
34 Kelly
34 Brandy
33 Rachel
33 Megan
33 Jolene
33 Emma
33 Courtney
33 Brandy
33 Annie
32 Trudie
32 Teshina
32 Pauline
32 Kacie
32 Gemma
32 Deirdre
32 Charity
31 Kimberly
31 Chelsea
30 Allison
29 Charlotte
29 Ashley
29 Amanda
28 Stephanie
28 Siera
28 Laura
28 Keisha
28 Crystal
28 Amanda
27 Stephanie
27 Ashley
27 Akasha
26 Shelby
26 Sarah
26 Kirsty
26 Katie
26 Jessica
26 Jenna
26 Jasmine
26 Chelsie
26 Caryn
25 Silvia
25 Rebecca
25 Nikole
25 Khrista
25 Erica
25 Chelsea
24 Sabrina
24 Renée
24 Rebecca
24 Kelsey
24 Jessie
24 Hillaree
24 Emily
24 Breezy
24 Angela
24 Amy
23 Taylor
23 Sydney
23 Sarah
23 Raquelle
23 Rachel
23 Lyndsay
23 Katelin
23 Kassandra
23 Emily
23 Alyssa
22 Stephanie
22 Natasha
22 Daniela
22 Chelsey
22 Alianna
21 Vivienne
21 Stephanie
21 Megan
21 McKenna
21 Laurie
21 Kayla
21 Katelyn
21 Kate
21 Grace
21 Brooke
21 Amber
21 Alexandria
20 Laura
20 Samantha

No ordinary girl

Keep looking forward.

Looking forwardIn October we called our awareness campaign the HOPE campaign, because we wanted to talk about the things that we are hopeful about. We wanted to talk about how all those little things are slowly coming together, helping us progress, and how every day we are beating Rett syndrome a little bit at a time.

If last year was the year of hope, then my hope for 2016 is that it’s the year of progress. No matter how small the steps we make, my New Year’s wish is that we keep looking forward.

I don’t just mean in a research sense, I mean in every sense. Keep your minds open to possibility that extends opportunities to children with Rett syndrome.
The first most obvious possibility has been the eye gaze tech; it’s truly cracked open the world of Rett syndrome for the people that have been affected by it.

So how do I see progression in the eye gaze field?
Getting the eye gaze is only the first step in this journey; it’s a much bigger task to learn how to use it and to teach your child to use it.
It’s pretty much a full time job. But there is opportunity in this space, with organisations like rettuniversity.org trying to crack open the possibility for parents to learn “Rett syndrome specific” techniques to help their children.
As a community we can build the hive of knowledge we need to extend these opportunities to all families with Rett syndrome, not just the ones lucky enough to attend one of the brilliant courses from Susan Norwell.

I hope we continue to make strides in pioneering Neurohabilitation and Physiotherapy fields, using techniques like Feldenkrais and Cuevas Medek Exercises (CME), as well as being supported by amazing new tech devices which are helping to reset neurology.

My hope is that we start to find new ways to access money to help us with research from beyond the family network, like the Rett Syndrome Funding in the Department of Defense’s 2016 Appropriations Bills achieved by rettsyndrome.org

I hope that we continue to look forward as a community, but also that we remember the people that have helped us achieve remarkable changes and progress in Rett syndrome.
I was speaking to some of the mothers of the older girls; most of them were told their daughters would not live to see adulthood, but that has changed too. These are the pioneer families that funded the building blocks of progress that we live with now. Our understanding of Rett syndrome has changed significantly because of these people and not just the doctors and scientists who have studied Rett.

Every year we are trialling more drugs, with more positive results; we are constantly learning more about Rett syndrome, and slowly we are turning that knowledge into a power to fight Rett.

I asked in November for images of girls (and boys) with Rett looking into the camera. Such a simple thing for most people, but almost impossible for people who suffer from the disorder. I asked for those pictures because I know that sometimes, looking forwards is the hardest thing you can do, and who better to show you how hard?

Progress happens by learning from the past, whilst looking to the future.

Keep looking forward.


The colour album can be found here.

The black and white album can be found here..

Keep looking forward.

More about the #REALLIFERETT Campaign

Trish and I discussed the #realliferett campaign for some time, even after she had finished the blog post she was worried that it might be too raw, too emotional. What she has done is incredibly honest and brave.

I think most parents dealing with Rett syndrome are brave, but society doesn’t like them to be honest.

This is what Rett syndrome in a society that chases perfection does. It elevates the pressure on a family by making you think you have to answer some perfect expectation.

People say you were chosen because you are strong, but that’s not true, you are strong because you were chosen.

We often talk about “being strong”,  but the truth is that for many parents, especially the newly diagnosed, they are not strong, they are holding it together on the surface, but underneath they are crumbling.

This is the most vulnerable a person will ever be in their life. There’s no manual for this, no one prepares you for it, because society hides it away behind our veneer of perfection.

Parents need their families and friends more than ever at these times.

#realliferett is a window into those moments of solitude, where Rett tears into your life. 

The most powerful campaign that Army of Us has ever run was the “Story of my life”; it was a tough campaign and ran contrary to everything we normally do. The campaign shared the things that Rett syndrome does and how it ravages those people who are affected by it.

I took great care in separating the disorder from the girl (or boy), but that campaign hurt in a way no campaign has since. For many parents it was an opportunity to explain the face of Rett syndrome that we don’t share.

I think #realliferett is the same.

It allows us to be human.

One of the worst things for parents of a child with Rett is “She can’t tell me when it hurts”.

Strangely enough, even though you can, you never do.

Thank you Trish, for being so honest.

More about the #REALLIFERETT Campaign

Hope is in the heart of us.

Army of HopeIt’s leading up to our second year of supporting Awareness Month as Army of Us and we’ve decided to do things a little a differently.

For many families who live with Rett syndrome, Awareness Month is an exhausting month-long reminder. A constant barrage of facts and statistics roll up your wall, as we all share images and stories about Rett syndrome, desperately trying to create awareness.

October has always been a tough month, tough to prepare for and tough to manage, with so much expectation and added responsibility for families; putting this kind of added pressure on you is just not what Army of Us is about.

This is where the idea of the Hope campaign comes from; we want to spread a positive message during October (to families and their networks of friends) that we have a lot to be hopeful for. This has been an incredibly successful year for advances in Rett syndrome and we believe things will only get better.

Rett takes so many things but we also have so much to be hopeful and grateful for.

We have known about the cause of the condition, and known about the potential reversibility for some time now, but that shouldn’t mean we stand still whilst we wait for a cure.

The past year has shown us personally and as a community why we can be hopeful and positive today.

Research discoveries about the mechanisms of long genes, and the progress with x-inactivation means potential treatments may be closer.

The orphan drug approval and results around Trofinitide mean we may be able to improve some symptoms now while we wait for a genetic fix.

These discoveries and other drugs in trial, like Copaxone and Ketamine, will help keep our loved ones affected by Rett stronger and healthier, aiding them to learn more skills and gain abilities right now.

The lower prices and greater acceptance of eye gaze and things like the Steve Gleason act in the USA are also very important breakthroughs. Eye gaze devices are changing the way people treat our girls (and boys), as we discover new ways to break down that communication barrier for Rett syndrome.

With all of this in mind, we’ve built a whole bunch of goodies that will help make your Awareness Month easier; we have redesigned our traditional “Rett fact cards”, which can be printed out and handed out at school. The Rett fact cards will be connected to our what is Rett syndrome blog.

We’ve also created a new group of cards; we call them “hope cards” and we hope you’re going to want to share them as much as we do.

Our hope cards contain the information that has brought us hope over the last year (and a bit longer), in a simple sharable format. Something we can share with our family and friends to say, hey, look what’s changing, we are beating this thing.

We have redesigned the posters and have added all the new girls, and we will keep adding more girls (and boys) through awareness month. So keep your eye out for them early next week.

The pictures we have been collecting for the last few months are filling the Army of Hope album and they have a very special purpose.

If your daughter (or son) is included in this album, please make sure you go to the album and “tag” her name in. It’s easy, click on her photo and click tag, then type her name, then leave a special message for her in the comments. Something as simple as I love you, or a few lines of your favourite poem.

If they’re not represented, please send us a picture so we can include them.

We promise you it will be worth it when October starts 😉

We’ve started a week early so you can use the stuff we make and be prepared for any of your Awareness month needs. Like printing our fact cards and posters for school or class to explain Rett syndrome. We want to make October easier for you, and we feel giving you access to our goodies a little earlier will do exactly that.

Profilomatic

Profilomatic has been totally rebuilt and now works on mobile devices 🙂 You can upload your favourite picture from your phone, apply an Awareness Month frame, then share.

More hope or fact cards

If there are other hope cards (or fact cards) that you would like to see made (or translated) please give us a shout (duncan@armyofus.org) and we will do our best to make it happen.

Other campaigns

As well as our HOPE campaign we will be supporting other campaigns from our friends too; there will be a host of profilomatic campaigns like the #realiferett for #rettober campaign in Australia and #nomoreemptyarms here in the UK.

Your Army of Hope

Hope is in the heart of us.

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