Rett syndrome Awareness Month 

Why it’s important.

The only way we will truly disrupt socially, is when we all share the exact same thing.

This is a hefty read, here’s a summary.

I will talk about :

It's no secret. I'm proud to be an advocate for Rett syndrome
  1. Inclusion, it’s more than just people living with Rett
  2. How going viral made a charity $50 Million
  3. New Diagnoses
  4. Bad information
  5. Good information

1. Inclusion

Army of Us has always been about inclusion, in the last couple of days I asked people to give us a little feedback about what we do for them. We are primarily an Awareness group, that is our function.

Awareness Month is the opportunity for everyone to be included.

I was so thrilled with all the replies, but I think this reply summed up everything we hope to achieve as a brand within our community. Thank you Ronda.

Ronda Trester Does Army of Us help our Rett Families with Awareness? Absolutely!
Inclusion: Not once have you forgotten to help spread awareness that Boys can be born with Rett too, not once have you forgotten to remember the children/adults we have lost to Rett, heck you also remember to help our families to spread awareness for those with Down Syndrome, you also reach out to all of our families to include them in your picture collages (which by the way is always beautiful)
You Listen: one of my favorite posts comes to mind - She's in the room. You help spread awareness that our Rett children/adults are SO smart! Just because they can not speak doesn't mean they do not understand
Compassion: No matter how busy you are, you always make time for us when we need something
Awareness Fact Cards: Love them! Let's be honest, we are tired, you are tired. But, here you are making sure we have handy, easy to explain facts to share. You also make them for families in various languages so they too are included
Picture Frames of our kids that explain scoliosis, seizures, long qt, eye gaze, etc all in one picture: Again, beautifully made and explained. I know that takes a lot of time making them for all of our families
Your awareness posts help us tremendously. Knowledge is power. We can't always fundraise and people can't always give. Especially since we have fundraised for a decade. Sometimes, awareness is all that we can do. Thank you Army of Us for all that you do! Not only for my family, but for every family out there. We never feel alone with you in our corner! We love you!

Let me take you back to that word inclusion, because that is almost everything you need to understand about Awareness Month

Inclusion is not just something we are fighting for our boys and girls with Rett syndrome.

That’s what Awareness Month is, the opportunity for EVERYONE to BE INCLUDED and do something, regardless of how much money you raise, or how important you are.

YOU ARE ALL IMPORTANT.

If you want to read more comments about what we do and how we help, here are links to all the replies. (I will include other quotes too)

Duncans post on with the Awareness comments
Army of Us post with Awareness comments

Why for 1 month of the year?

We need social momentum.

You don’t get that by spreading little messages in small networks.

I see people saying “I create awareness throughout the year.”

Here’s the thing. You don’t.

With the utmost respect, you don’t. Neither do I.

Social networking is a numbers game and speaking to your network is what it was designed for. Your message never extends beyond that network.

It’s part and parcel of your social conversation, unless everybody engages with one of your posts, it does not extend beyond the boundaries of your social network.

I don’t think that’s a bad thing because these people are your support network, I think it’s an incredibly important thing. These people are the ones who will babysit, fetch and carry, be a shoulder to cry on or a friend to laugh with.

For Rett syndrome to get social momentum, you need to extend beyond the boundaries of your network, and that means many people need to share the same thing.

Not just many people. We need people who are not in our social network to share that thing for it to exploit the algorithms Social Media companies write, in an effort for that message to go viral.

2. Momentum : Let’s talk money

Social momentum is how you exploit the algorithms that control the friend networks.

Remember the ice bucket challenge?

It raised $115 million for the ALS Association.
It raised $220 million worldwide for the disease.

1 in 50 000 people gets ALS/MND that makes it 5 times rarer than Rett syndrome.

A disease with a far smaller network than Rett absolutely smoked social networking, not only did it raise inordinate amounts of money, but it generated huge amounts of awareness.

Awareness that has continued raising money ever since.

More people are running events, getting sponsorships than ever before. People who are not connected in some way to MND/ALS are choosing to do things for the victims of it.

Massive corporations are aligning themselves with ALS/MND.

Let’s have a little comparison of the impact before and after the Ice Bucket challenge

The ALS Association received $41.8 million in donations from more than 739,000 new donors, that figure continues to grow.

Since the ice bucket challenge they have been averaging $75 million/year
Prior to the ice bucket challenge they averaged $55 million/year

How is this awareness you might ask?

*Don’t believe me, I’m going to cut and paste from Wikipedia

According to The New York Times, people shared more than 1.2 million videos on Facebook between June 1 and August 13 and mentioned it more than 2.2 million times on Twitter between July 29 and August 17.

At its peak, the challenge generated more than 70,000 tweets per day with hashtags such as #IceBucketChallenge, #ALSIceBucketChallenge, and #StrikeOutALS.

Prior to the challenge, public awareness of the disease (ALS/MND) was limited; the ALS Association stated that prior to the challenge going viral only half of Americans had heard of the disease.

After the Ice Bucket Challenge went viral on social media, public awareness and charitable donations to ALS charities soared.

This alone should be enough to help you understand why October Awareness Month is important, but I’m going to give you more reasons.

And at the end I’m going to tell you how we could generate our own social upheaval.

Sidetrack : Here is an example of how awareness attracts the corporate market

Hector Minto I've always loved the concept of Army of Us. To me it's everything that's good about social media (in amongst a whole lot of dross). You created a positive beacon for families to find and create their own critical mass of expertise. Back when I first came across Rett Syndrome, it was clear that the educators and therapists were not engaging, there was no presumed competence and a general acceptance that communication was not going to happen.
Army of Us gave me a route to engage. I met cool, positive parents wearing their hearts (and their stripes) on their sleeves ready to listen to new approaches...and that is what got eyegaze going (and won over the doubters in time). There is NO WAY that would have happened otherwise.
I remember you all and the many tears and hugs as kids played, created and communicated. It was a privilege to be there...and to now watch from a bit further away as your kids continue to show what they're capable of. More power to you Duncan. You created an amazing way for people to reach each other.
Now hit me up for a few more t-shirts!

Who’s this Hector guy?

Hector was critical in how the Rett communities journey into Eye gaze devices started. He’s now a Senior Technology Evangelist at Microsoft, evangelising INCLUSION daily .

Hector has been pretty important to Rett syndrome. You can follow him on twitter right here : @hminto


I met Hector through Cure Rett and a fantastic awareness campaign called Hello!

Hello was all Elizabeth Halford’s work. It was, and still is to this day, the most successful Rett syndrome campaign ever run.

She deserves credit and thanks for that.

You can find Elizabeth here www.graceforrett.com/

The Hello campaign was the only time Rett syndrome has ever gone truly viral, it was a true showcase of what this community could do if we worked together.

Picture of Carys, a young girl with Rett syndrome, sitting in her special high chair looking at the screen.


I was
An example of the Hello campaign

That campaign didn’t only spark prolific sharing in our community, it got copied, not just by other Rett charities, but by much much bigger charities than anything we have in Rett syndrome.

People outside of our community could see the brilliance in it, but we stayed blind to it.

Elizabeth showed us we (Rett syndrome) could be much bigger than we think we are.

It was an Ice Bucket moment.

There is no reason why, if we work together, we couldn’t have an Ice Bucket moment again.

We have talent in our community, letting people express it is a gift we can give them.

3. New diagnosis : Why awareness is important

New people are diagnosed everyday, it imperative for their health and the health of their family, that we get then to the right support networks providing the right information straights away.

These families need SUPPORT first and a plan to help Rett syndrome after.

Why awareness is so important for families who’ve just got a diagnosis.

In a new world we can reach out to them and help them immediately, put them in touch with right people.

Remember Diagnosis Day?

We have the chance to cushion the fall, to lift them up off the floor.

To show them that they will still smile and laugh, and in find a whole new world of support. I really stress here, SUPPORT, it’s operative that we start these conversations helping families to find balance.

We need to help them, not ask them for HELP!

Most importantly we will get them in front of that curve of learning, so they are implementing strategies and raising for the right things straight away.

The earlier you get involved, the easier it is to lay down the right learning structures to move forward for your child.

Jamie Gaunt Book Army of us was one of the first page I joined after getting diagnosed. You do a wonderful job helping us Rett parents to spread Awareness. Your campaign this year was amazing. Thank you for all you do for all the Rett families. #Armyofus #Rettstrong 💜💜
Duncan here's a reminder of the impact you have an our families and especially my Audrey.
I met Jamie, and her daughter Audrey, when I spoke at the Girl Power to Cure Event in Orlando.

There is nothing more powerful than having a positive impact on new diagnosis

FYI : Audrey is a pickpocket, she totally stole my heart.

4. Bad information : How Awareness corrects it

The information about Rett syndrome on Google is bad.

BAD BAD BAD BAD BAD

I used to say Google Rett, I never say Google Rett anymore, because quite frankly a lot of the information out there is bleak and horrible. It’s a terrible and often badly informed introduction to Rett syndrome.

As you well know, Rett is different for every one, it is also variable, it is not always bad for everyone. (Caveat, it’s never good for anyone either, but there are good days).

Where is this information bad?

There is so much stuff we have learned about Rett recently. The outcomes of these learnings are not invested in or are ignored by Rett institutions. For example the Eye tracking communication devices.

I would go so far as to say that eye tracking is possibly the most important discovery in Rett syndrome since the gene (this is my opinion).

Why?

Because it’s here. Because it offers access.

It’s not easy, it doesn’t always work, it costs a lot of money for the device and a lot of time and money to learn how to use it. I also think it’s very much worth the effort.

Awareness has been the number 1 tool in helping parents access these marvellous devices and techniques/people who can help you use it.

5. Good information : Explained in a simpler way

Ret2 syndrome is not complex, the way we talk about it is.

It is our biggest fault as a community, we high brow everything (it’s a clever was of saying we use big words – and that’s actually stupid)

Sorry if I just called you stupid.

I was stupid too.

For 8 years I said this “Children with Rett syndrome go through regression, often losing the ability to perform learned actions.”

Regression, perform, learned actions?

Who speaks like that? I tell you who, Doctors.

Not doctors speak like this….

“People with Rett syndrome often lose the ability to do things they might have already learned and done. Like walking and talking”

We learned this, and we changed.

Sheryl Hand I have had family members tell me that the post help them understand Angela's life, and our life, better. Easy to understand and not to much "medical terminology"
Love you guys and gals and thank you for the hard work and dedication you give
And this was the outcome. This has been the most common theme in the stuff we have made this year.

Thank you for making it simple.

Good information is not just for families, good information is for professionals too. Far too many people in our professional network live off old information .

Take for example Boys with Rett syndrome.

We’ve run a little campaign for the boys this year (We are so happy we did)

Almost every parent has the same story to tell, the professionals all told them it wasn’t Rett syndrome, boys don’t get Rett.

Guess what.

BOYS GET RETT TOO!

Picture of Henry and his Dad.
Meet Henry. He has Rett syndrome.

Rett syndrome does not define Henry.

It explains the story in a meaningful, human way that resonates with people. A way that helps them understand and feel empathy and want to be involved.

What does Awareness do?

Social upheaval (Disruption)

Army of Us has been doing it for quite some time now, but why should you believe me?

Here are some stats from Army of Us for awareness month – this is not to boast, rather to illustrate how important what we do socially is.

We are not quite where the IceBucket challenge is 😉 but we have managed to break into the bigger pools on a number of occasions.

Ever wondered how Army of Us got into your feed? That’s because we used engagement to jump across from a shared friends network.

Here’s how:

  • Our engagement per week averages at 15k (likes & shares)
  • Our network penetration per week averages at 60k accounts. That’s 60k off a tiny page with a small like base (5k).

Facebook insights show that Army of Us has greater engagement than the top 5 Rett charities combined

That means that our little 5k base is outperforming a 100k collective base.

Our engagement is 340% greater than our user base.

It also means we extend beyond our like pool, where other organisations are only reaching a percentage of their like pool.

We are the only Rett syndrome representatives extending our reach beyond our base. As a community, we have to change that.

Here is the screenshot from Facebooks insights, and if you’re thinking, that’s not important. You are wrong it is, that what this whole blog is about.

This stuff should be important to you, especially if you’re a big organisation.

Army of Us’s social success is not an accident.

Justin Schroeder When it comes to spreading Rett Syndrome Awareness, my first thought is always Army of Us. We all know that without awareness, there will never be a cure, so spreading the word to others is SO important, particularly during October's Rett Syndrome Awareness Month. However, it is really hard for us Rett parents to find the time to come up with the facts and graphics to make the kind of impact Rett Awareness deserves (not to mention most of us don't have the talent or skills needed to do it). Thankfully, Army of Us is there to provide us what we need, and make it easy to share the information.
If you want to sell something, you need to market your product.
Is to time we started treating what we do like a business?
To hire clever people to do clever thing?

How do we know how to do this?

This is not the first time we’ve done it, we did it with Cure Rett too.

It’s a product of planning and understanding what is important to our audience. Most importantly keeping in mind that social networking is a conversation, it not just standing on the hill and shouting.

Every year we learn and evolve. The following year our stuff is better and cleaner, our message is more tailored.

We would love to help any Rett organisation who wants help with that.

Honestly, talk to us, we won’t charge you 😉 We don’t get paid for this. If we did, it would probably be in cake 😀

How does what we do benefit Rett syndrome?

People are busy, if you have a child with Rett syndrome, you’re probably doubly busy. You’re out there fighting for things that help you make their lives (and yours) a little easier.

Everything we make is made to be used and shared.

Printed for your events, on posters, flags, cards and tees.

These “assets” are designed to help you tell the story of Rett syndrome, you are welcome to use them.

You are more than welcome to add a call to action for your favourite charity to these images.

We’ve made thousands of posters, pictures, blogs & stories, we’ve even designed merchandise for families.

Real disruption – What can we do?

I’m not here to tell you have to generate awareness. You’re already dealing with Rett, that’s enough for me.

The only way we will truly disrupt socially, is when we all share the exact same thing.

1 shared thing could literally change the destiny of Rett syndrome.

Like the ice bucket did for ALS

Pramod Sonne I never even knew this illness existed until I saw Army of Us awareness campaign. I was so inspired by people who tirelessly contribute, the incredible parents who are so resilient. It made me realize that many of the problems I thought were so big in my life were actually completely irrelevant and insignificant- and it got me off my butt helping people.
I find this entire community to be nothing but inspiration. 🙏🏽❤️

You can find Army of Us and all our stuff we do here www.facebook.com/Armyofus/

I am proud to be an advocate for Rett.

Rett syndrome Awareness Month 

My Rett journey

I wish that I knew what I know now. When I was younger.

Rett syndrome is a better diagnosis now than it was a decade ago.

I’ve been on this Rett trip for a while now, and my outlook has changed considerably throughout this journey.

Volumes of studies, research and hard work from a fantastic professional and scientific community is making strides in to both treatments and possible cures all the time.

Pushed on and funded by so many excellent Charities.

I’m not going to kid you, it’s still a hard diagnosis but there is genuine hope right now.

A year ago there were just over 18 really great studies in flow that I talked about, today that number has tripled.

When my God daughter Carys was first diagnosed I went onto Dr Google and consumed what I can only call now a mountain of truly bad information.

It was decades old, it was incorrect, it had no basis in real study but it had hung around for so long that no one questioned its authenticity.

In between all this bullshit, I found little seeds of light.

I discovered that therapy was incredibly beneficial.
I discovered that learning never stopped, and regression did not incapacitate.
I discovered that communication was possible.

Mostly importantly I discovered that she was smart.

I also discovered Dr Google had made this diagnosis much, much worse.

I had been building this profile of everything that could possibly go wrong, every symptom, every issue and stacking them up.

Instead of focussing on Carys, I was consumed by Rett syndrome.

For James, Carys’ Dad these feelings were compounded, they obviously would be, Carys is his daughter.

I made a promise that I would fight with him.

We threw ourselves into Rett syndrome, we threw ourselves at Rett syndrome.

Literally no mountain was big enough to stop us. (There’s a flag at the top of Everest – the proper top, not the bottom-top that everyone else visits – that says “Cure Rett” thanks to our friend Sam – Thank you Sam)

We stormed like headless chickens all over the country, combined we lost the bodyweight of an extra person in fat 😀 Many cakes were murdered in the making of this physique…

We ran, swam, cycled, “obstacled” our way through every hardcore event we possibly could. Joined by our loving friends and family.

We raised a lot of money, generously donated by our loving friends and family.

I met Melody and she showed me something else. She showed me courage and strength and a sassiness I can’t even describe. She showed me what fighting truly was.

An unfortunate reality in Rett syndrome is too many girls (and boys) have been taken by the disorder or because of it.

This is something we can never fix, there is no cure for that pain. All we do is hope that we fix this soon enough that no one else ever has to live with it.

All my love to you families who have lost your child, sibling or friend.

You will always be a part of the fight.

I’ve now created over 10 000 images for Rett syndrome, James has coded enough software to form a facebook sized tech start up.

Between us we have created non stop campaigns for Rett syndrome, that (call me egotistical) have changed the way we communicate about Rett syndrome in Social Media (You had better bring your A-Game next year because it’s ON!).

All that while Carys was at home, being Carys. The smart funny girl that she is. She doesn’t complain, she always has a smile for me. I mean a genuine smile that warms me to the core. Sometimes, if I’m lucky enough, she has a joke for me too.

On this journey we learned that everything we were doing for Carys was great BUT doing things with Carys was better.

Rett syndrome is a horrible diagnosis, but there is hope, SO MUCH HOPE.

If you want to climb a mountain, climb the communication one, and the education one, and the one where you can get her walking therapy. What ever therapy she loves – horse riding, swimming, lights, music. Run the marathon that buys her an eye gaze, or a special bike.

Stimulate her mind, it is a muscle, work it. Believe in her and show her you do.

Those are the obstacles that really matter on this journey.

I’ve never regretted these things that I’ve done, I’ve met the most amazing people on this journey, who’ve run, climbed, punched, chopped, swam, made coffee, and cakes, had extravagent balls, dinner parties, quiz nights, fun days and many other things.

I can’t thank them enough for their support.

Don’t let Rett be your excuse for absence, because that’s when Rett syndrome has truly won.

Invest your energy into your child, keep her healthy, educate her, work on communication strategies, use therapy. Don’t “be her voice” help her access her voice.

I’m going to say something a little controversial here, but after years of being prodded I have a thick skin 😉

I have noticed is how many of the people who communicate have great teachers as parents.

I think great teachers share a universal truth, they don’t take shit.

You shouldn’t either.

She is a child, she will get sulky and moany but she needs to be parented just like all your other kids. Don’t be a push over.

Television is a reward not a babysitter.

A big mistake I made in the beginning was thinking I spoke for her, I didn’t, I don’t, I’ve learned. She has the ability to speak for herself, help her access that ability.

This is something you can do right now.

I’ve been fortunate enough to speak to people living with Rett syndrome, and they all universally agree – they have their own voice, don’t be it.

AMPLIFY IT.

We really, really, really need to start listening to what they say.

Look for the good news.

Surround yourself with champions who will support you and her.

Teach her siblings to help and teach her.

The sibling bond is incredible in this Rett network, at the same time don’t forget they are people too and they also want attention, alone time and opportunity.

Rett is a better diagnosis now than it was a decade ago, look for the fuel which will help you and her be happy.


Sorry for the long read I got carried away.

I blame Mimi Burke for this post because she sent me down the research rabbit hole over a week ago and I’m only just lifting my very hopeful head

My Rett journey

Still water

 Your child is not “retarded”.

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

I feel I need to rectify what is being said.

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

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

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

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

Here are the things we know:

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

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

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

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

Intelligence and communication

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Intelligence is plastic

What that means is that intelligence is malleable and changeable.

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

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

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

TV is a reward, not a baby sitter.

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

This is a study worth funding.

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

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

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

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

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

So we are stopping where we started.

Your child is not “retarded”.

———————————————

The study on intelligence was over 5 years ago.

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

5 years ago we said we need to know more.

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

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

A study which would literally change their lives.

————————————————

AS A SIDE NOTE : NEWLY DIAGNOSED

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

Make this your focus.

Still water

Rett syndrome nutrition & the big second brain (your tummy)

Good nutrition is the building block of a healthy brain.

New research is telling us really important stuff about the gut and Rett syndrome nutrition.

How it is now seen as our second brain and also as a window to our brain health.

The army in your tummy - Rett syndrome nutritionOur guts are incredible things; they’re also one of the most important cogs in how our body interacts with our brain. 

[The second brain in our stomachs – BBC News]

New studies have shown that tummy health helps mind health.

We have identified that gut health is even responsible for our behaviour. 

[Anxiety and depression caused by stress linked to gut bacteria living in intestines, scientists find | The Independent]

It should be no surprise then how Rett syndrome affects the tummy health of girls (and boys); it should also be no surprise that our scientists and researchers are identifying the gut as an avenue to treatment.

What are the issues that are affected by tummy health?

Anxiety

One of the leading issues in Rett syndrome is anxiety, which has been linked to the health of your gut by recent studies. Not just anxiety, but depression.

Depression

I think this paints a picture of behaviour for many of the girls, who seem to cycle through bouts of depression.  

Immunity

Your gut health also aids your immunity, so taking care of nutrition is like a multi pronged attack on Rett and a great starting point to ensure your child is healthy and happy.

Neurohealth

As previously pointed out, we have found direct correlations between Neurohealth and gut health. As Rett syndrome predominantly affects Neurohealth, this is seen an important target.

Studies have shown that good guts affect BDNF (Brain-Derived Neurotrophic Factor). Where have I heard about that? Well BDNF is intrinsically tied to MeCP2 and plays a key role in neuronal development.

Why’s he telling me this?

Well quite simply because a good tummy affects BDNF too.

[Prebiotic feeding elevates central brain derived neurotrophic factor, N-methyl-d-aspartate receptor subunits and d-serine]

A living approach to gut health

We have known for some time that nutrition is vital to the health of the girls, but how much more should we be focussing on this method as a direct and possible treatment?

Things as simple as modifying gut bacteria could alleviate and reduce stress in the girls.

[Link Found Between Gut Bacteria And Depression | IFLScience]

What can we do to establish the best possible balance for good bacteria in the gut of our girls?

Probiotics or Prebiotics

Probiotics are the “gut flora”(good tummy bugs) that live inside you. Prebiotics are carbohydrates that humans cannot digest, but are like fertilizer for probiotics. Prebiotics help the gut flora that are already there grow.

Introducing probiotics and prebiotics into a diet is something every parent can do, both are available off the shelves.

This is something that is achievable for every parent of a child with Rett syndrome; nutrition is something you should be in control of. Speaking to your doctors to get you, and her (him) in front of nutritionists should be a reasonable request.

It’s also something that collectively Rett syndrome organisations should be targeting.

Why do I say this? Because it’s achievable, it’s low cost and it’s a valuable resource.

Let us target the things we can change right now, those little percentages that keep our children healthier. Little percentages that accumulate into effective encouraging treatments. Treatments that keep your child healthier.

So what else does this mean?

It’s not just good nutrition that helps, it also gives us treatment targets.

What else stimulates BDNF?

Let me just reiterate here, please never self prescribe medication. 

There is a reason drugs go into prolonged studies, so I’m going to avoid talking about drugs that are not officially in a Rett related study. 

There are however other things that stimulate BDNF.

Social enrichment

One of the best ways to stimulate BDNF is through social engagement, enrich them socially, involve them and encourage them. This also has a positive effect on their anxiety issues.

Here are some links :

• [Early social enrichment shapes social behavior and nerve growth factor and brain-derived neurotrophic factor levels in the adult mouse brain.  – PubMed – NCBI]

• [Early social enrichment augments adult hippocampal BDNF levels and survival of BrdU-positive cells while increasing anxiety- and “depression”-like …  – PubMed – NCBI]

How Ketamine helps

What I found interesting in some recent studies, is their is research into using Ketamine to help with anxiety and depression.

[Ketamine tested as severe depression treatment – NHSUK]

I know someone who’s spent a lot of time with Ketamine, and not for all the reasons above, but as a pain killer. I also know that she is incredibly responsive for a child with Rett syndrome, her tracking is amazing, her hand control is incredible. 

I’m not saying this is because of Ketamine, but I do wonder if Ketamine has an affect on her, because we noticed changes once she went onto it. She was also part of the initial discussion that got the Ketamine study started.

So what’s that got to do with Rett syndrome?

Well, quite a bit actually.  Ketamine is not only used as a pain killer, it’s not only being tested as a solution to depression and anxiety.

Ketamine has also been shown to stimulate dendritic growth, which is crucial to brain development, as well as stimulate BDNF expression and translation of synaptic proteins.

That’s a long way of saying that Ketamine has a positive affect on things that Rett syndrome alters.

Here is a more information about Ketamine possible affect on Rett syndrome. [Could Low-Dose Ketamine Help Patients with Rett Syndrome? – Consult QD]

So what other good stuff you got for me?

Well lots actually, turns out there are lots of things that affect BDNF.

Sunlight (Vitamin D)

Yeppers, get her in the sun and catch some rays.  A study in the Netherlands found that BDNF increased during summer and spring, researchers discovered it was a direct correlation to how much time they spent in the sun.

[Serum BDNF Concentrations Show Strong Seasonal Variation and Correlations with the Amount of Ambient Sunlight]

Ampakines

Another things we are looking into in Rett syndrome that affects BDNF is Ampakines. Ampakines have had positive results in studies of mice with neurodegenrative diseases.

Ampakines are a class of compounds (drugs) that interact with your glutamatergic AMPA receptor. The easiest way I can describe it is like the telephone line between two telephones. It helps the messages get through.

Crystamine

Crystamine is a drug used to elevate BDNF in other neurodegenerative diseases  by stimulating the vesicles (fluid-filled pockets) that contain BDNF. 

So what is Crystamine? You probably know it as Vitamin B12. Another space that is being targeted for a possible positive result.

[A Study of the Treatment of Rett Syndrome With Folate and Betaine]

SSRI’s (Selective serotonin reuptake inhibitors)

These are typically used as antidepressants, and are currently prescribed to Rett syndrome patients. In the current case they are used to try and control self-abusive behaviour, such hair hair pulling, biting and head banging.

There has already been a study into using antidepressants as potential treatment for Rett syndrome.

[Lithium and antidepressants potential treatments in Rett syndrome]

Omega-3 Fatty Acids

Remember fish oils? 

Well it turns out there’s some sense in that, as these essential fatty acids have something called DHA (Docosahexaenoic acid) responsible for increasing levels of BDNF in in rodents with traumatic brain injuries.

[Dietary omega-3 fatty acids normalize BDNF levels, reduce oxidative damage, and counteract learning disability after traumatic brain injury in rats.  – PubMed – NCBI]

[Therapeutic use of omega-3 fatty acids in bipolar disorder.  – PubMed – NCBI]

Nutrition

There were more things that contributed to an increase in BDNF. Access to refined sugars and saturated fats are BAD.

This is an issue for people who are trying to get their child to carry as much weight as possible, but the truth of it is that these two things are not only smashing those good guys in your tummy, but their are also directly impacting efforts of the body to increase BDNF.

So what’s all this mean?

This is a long journey of potential treatments in the fight against Rett syndrome, it’s also something we can directly target as parents and revolutionaries in the Rett resistance.

So get that good stuff in your tummy, go probiotic and prebiotic 😉 Get to your nutritionist/dietician/nutritional therapist and get a strategy going.

Good nutrition is the building block of a healthy brain.

It’s also something you can affect.

Rett syndrome nutrition & the big second brain (your tummy)

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