What is Rett syndrome?

Rett syndrome is a disorder that mostly impacts girls.

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

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

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

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

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

Rett syndrome symptoms include

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

Why only girls?

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

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

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

Mutations, Insertions & Deletions

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

A missense mutation substitutes one amino acid for another.

A nonsense mutation stops a cell from building protein.

An insertion adds an extra piece of DNA

A deletion removes a piece of DNA

A frameshift, shifts the location of a group.

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

New diagnosis

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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


Future blogs

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

  • Methylation
  • Rett syndrome and Autism

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

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

What is Rett syndrome?

More about Trofinetide (NNZ 2566)

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

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

What we hope to change
Trofinetide  does 2 things:

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

More spines mean more synaptic connections.

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

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

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

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

More about Trofinetide (NNZ 2566)

The chain of trust

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

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

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

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

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

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

What do I mean by that?

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

For example

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

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

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

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

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

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

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

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

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

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

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

Let’s try to fix what we can

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

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

Please, please take responsibility.

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

The chain of trust

Birthday cards, graphics and all things that we make

I love the fact that I get to make all these fantastic things for these beautiful girls (women) and boys (men) and I will keep doing it as long as I am able. I don’t think I need a reason to make someone’s day a little brighter but this is what I can give.

With this in mind, I thought I’d answer some of the more frequent questions I get asked.

Q: How do you get a birthday card or a graphic?
A: You just ask, it’s as easy as that, and I will make it as fast as I am able.

Naturally a little notice would be good because I have an editor (Grammy), without whom I’d be lost. So your card gets designed, goes to the Grammar Fairy, who makes sure I’ve not chewed up the English language.

Q: Aren’t you too busy?
A: No, I’m never too busy or too overloaded for your request. Please don’t think you have to wait for me to deal with everyone else. Everything comes out in due course and if I have more to do it just comes out a little slower.

Q: Do I have to request a graphic every time?
A: Yes, some of you have been my friends for many years now, and I know you might feel comfortable with me just going ahead and making something, but sometimes you might just want some privacy and to hide from the rest of the world. That’s okay.

Which is why I ask you to opt in to the things I make that get shared publicly, because I want to make sure you are okay with it.

Sometimes I do just go ahead and make something personal, but I share them directly with you, then if you choose to share them, that’s totally cool too. I would do this more often if time permitted, but it’s difficult to catch everything on Facebook, so I miss a lot of stuff, and also don’t have as much time as I would like to make these things.

Requests are pretty much optioning in, so if you’re asking me to caption, it’s all good 🙂

Q: You didn’t make my thing!!!!
A: It’s never intentional, I get requests via so many different sources that it can sometimes be mayhem to admin them. I try my best to get them all into a manageable organised place, but I’m bound to miss something because Facebook is not designed to be an amazingly organised tool. Sometimes images get corrupted in the upload, and other times the tags do crazy things.

I’m totally okay with you getting in touch to ask me where something is, please give me reminders.

Q: Is Army of Us just you?
A: Very definitely NO. I’m only responsible for bits of this.

We are growing, and as we do so does our team. The awesome profilomatic had about 1% of my work, the rest is the amazing techs.  There are people who help with the graphics and there are a bunch of lovely ladies who help with the grammar, the spelling, the translations to different languages. We don’t exclude people from helping, you’re already helping by getting involved and sharing, by sending your pictures and being part of the stories. What we do is not about us, it’s about the girls and families we do it for, so we’re intentionally trying to keep that as our focus.

We look at ourselves like the people who supply the placards at activist events. We’re pointless without you.

Q: Is Army of Us a charity?
A: No, we are a social activist group.

We have one goal, to make as much noise about Rett syndrome as we possibly can. We want you to join in and make some noise too. You are welcome to support any charity you like; we will work with anyone interested in making noise and we will never tell you who you should support.

You can help us, we need you to like and share our page, the more you do, the more noise we can make.


We are all volunteers 😀 So sometimes things don’t happen straight away. There might be another campaign running that we are focussing on, so we have to come back to other things. This is very much the case in Awareness month, but we will get around to it.

I hope this clears up any questions, but if you have some more we’ll be happy to answer them.

Birthday cards, graphics and all things that we make

Hands to play – Reach out for Rett syndrome

This is little Bea demonstrating persistent hand movement.
This is Bea a demonstrating persistent hand movement.

There are very few symptoms practically every person with Rett shares, but repetitive hand movements is one of them (also referred to as stereotypic movements).

These hand movements were one of the first things that Andreas Rett noticed when he classified Rett syndrome.

They are identified as a classic symptom of Rett syndrome, but also not only indicative of RTT, you find them in other disorders too, like CDKL5.

Part of the problem with explaining RTT, is that nothing is easy to explain, it is incredibly complex syndrome, even identical twins with the same mutation, show different symptoms with varying degrees of severity.

Repetitive hand movements are one of these things that are hard to explain, not just scientifically, but because every person has a unique way of expressing this stereotypic movement. Sure some of them can fall into greater “categories”, but each person does it differently.

Some hand-wringing, some hand-wash, some finger-twiddle, some finger-tap, or hair-pull. Some do more than one. Some only do it when they’re nervous or anxious, some do it it all the time, but all of them are free of this symptom while they sleep.

So you can’t say all girls hand-wring, because they don’t, the frequency also varies, some girls do it far more frequently than others. Some stop doing it for years, then start again and some appear to be free of it. Some do it so seldom it’s hardly noticeable, but some form of stereotypical movement is always present at some stage in their lives.

So what does it mean? It means that she loses the ability to use her hands in any meaningful way, and what do I mean by that? She loses conscious control of her hands.

Combined with Apraxia, stereotypical movements take away the ability to write, draw, point, or used your hands to perform any form of task. It’s almost impossible to feed yourself because you can’t hold a spoon, or to drink from a cup, you can’t put clothes on or take them off. So when we say a girl with Rett syndrome lives in a prison of her own biology, it is because of things like this.

Any constant action will cause damage over time to any individual, and stereotypic movement is a massive part of this. Over time fingers get twisted from constant motion, calluses form or skin dries and cracks from constant moisture of being in the mouth, cuts and scratches scratches from teeth and sharp nails, so hard to clip and maintain (another one of those little things people take for granted). Hand-mouthing can affect the structure of a child’s mouth, depending on how much of her hand she has in her mouth and how often.

There are many things we know about Rett syndrome, but we don’t know the reason for these repetitive movements.

We believe that some receptors in the base of the brain are responsible for repetitive movement, these receptors regulate certain functions through the release of hormones and neurotransmitters. We know that Rett syndrome is a neurological disorder, so it makes sense that these functions would be affected by it. If it’s playing havoc with the rest of the brain, it’s bound to playing havoc here too.
These hormones and neurotransmitters are also responsible for things like anxiety, aggression, appetite, cognition, learning, memory, mood, nausea, sleep and more. When you tie these things together it once again makes sense, it’s like a reading list of things that RTT affects. So it’s understandable that when she’s feeling anxious her stereotypic movements increase in frequency.
We have identified it as a something we need to learn more about, we’ve also identified it as a place for future treatment. These receptors have been the target of a number of preclinical trials, and work with them continues.

Each of these girls is completely unique in the way her stereotypical movement manifests itself, which means means an effective aid for this is down to you as a parent to formulate. Once again, I’m not a specialist, so also consult your doctor, or Rett representative about this.

Gloves, hand socks, wrist supports and arm braces, are practical helpers in the everyday war of Rett syndrome. Gloves protect hands from moisture and cracking, or plain wear and tear, socks on hands to the same thing, both of them change the texture of her hand in her mouth. Arm braces stop girls from pulling their hair or also stop from putting her hands in mouth. Wrist supports stop the awkward angles and bone twisting, nerve damage that progressive movement can cause.

Our hands are one of the things that truly set us and other primates apart on the evolutionary scale; they’ve been our all purpose tool for getting things done right the way through our existence.
When we couldn’t use them directly, we used them to build something to use. Purposeful hand movement is another thing we take for granted; just imagine what it would be like not to have functional control of your hands.

Where your hands, although present and extremely capable, have a mind of their own doing their own thing, sometimes even harming you in the process.

I wanted to talk about hands, because I’m asking you to use yours. In this awareness month, use your hands to reach out for Rett syndrome, and help us tell the world about it.

Share our pictures and our story please.

Things other parents do about this.

While we don’t know how to treat it yet, there are some things we can do to help. I’ve already mentioned socks and cycling gloves which helps hand mouthing, scratching and skin irritation. Socks on her hand, discourage her from putting her hand in her mouth. I’ve mentioned cycling gloves because they’re fingerless, they’re also cushioned if it’s clapping.

It’s also important to have a good moisturising regime, if your daughter puts her hand in her mouth, make sure the moisturiser is not harmful if swallowed.

While I was at conference, I met Jan Erickson. Jan makes arm braces for girls with Rett syndrome, her Grand Daughter has Rett syndrome. Which she sells from her website. Jan is a wonderful woman who will make anything you need.

Wrist supports
These are generally fitted and supplied by your Doctor, they are useful to avoid injury through sustained action of unnatural wrist activity.

Hair pulling
Hair-pulling, many families have chosen to cut her hair too short for her to pull, and in many cases she grows out of it. There’s a bunch more on hair pulling in this blog I did previously.


Reachout4Rett Pictures

I’ve created some really big banners, and some mini timeline graphics. Please bear in mind that this story is about hands, so sometimes the faces are obscured. I will be working on releasing others with faces too.

Facebook album :

Big banners – These Banners are very big images, but they also include every image I was sent. I’ve made banners, because I wanted to show people why we are an Army of Us. So the next time someone asks why do we do this. I’ll just link them here.

I’ve also created 2 frames in the Profilomatic with the following message :

There’s things that Rett syndrome can never take from me
the love, the quirks, the laughs, they are all a part of me
and through all the problems and pain it gives me
every second of every day, fight it, I defy it
and I define me.

For those of you that don’t know what the Profilomatic is, its a way to easily make fab Rett awareness pictures http://armyofus.org/profilomatic/

Help us #reachout4rett let’s tell the world about it.

Below are examples of the banners

Anyone that is obscured will appear on other banners too 🙂

Black & White banners

Colour Banners



Hands to play – Reach out for Rett syndrome

Rett Syndrome Awareness Month & Army of Us

Army of UsI know that Awareness Month is tough. It’s a constant barrage of everything Rett syndrome which can suck the life out of you and the people connected to you. You’re under pressure to do more, say more, share more and be a bigger part of Awareness Month.

Why is Awareness Month so important though?

Awareness Month is not for you and me, it’s not for the people who live with or are directly connected to Rett syndrome. We live through 12 months of awareness every year.

Awareness Month is for all those people who have no idea what Rett syndrome is, and/or all those people who have an “old” understanding of it. Those are the people we are trying to get out to.

In the Army we “Dream Big”, that’s because we have a big goal.

So we need you. We need you to share whatever you can this month, to make a big deal, because Rett syndrome is a big deal.

We need you to generate as much awareness as we possibly can. We thought the best way to do this was to equip people with the tools they need to SHOUT.

Not just our message, or even not our message at all, just share the message of Rett syndrome from whoever you want to, but please share.

Army of Us is about supporting people and raising awareness, with whatever you need to tell the story of Rett syndrome, not our story, your story. About giving our friends, families and supporters the targets they need to feel like they are making an impact.

Why is it an “Army”?

We believe that this is a fight, we have to fight to be heard against bigger better funded charities, diseases and disorders. We have to stand together to share the message, because division helps no one. We have to fight against the old concepts of Rett syndrome and re-educate people about what we have discovered, what has changed.

We need to be smart about it, we can’t be afford to be divided and spread across social media, all making tiny ripples in this massive pond. We should to stand together to make a concerted splash.

So what are we doing to change this?

Army of Us is working with a bunch of charities, and loads of families to create and generate social momentum. Through whatever system we can, we will talk to anyone who will help and support our cause. As a rare disease, we’ll take any help we can get.

Any charity can ask us for help, and we will and already have been helping.

We make birthday cards

Plain and simply, our priority here is the girls (and boys) with Rett syndrome. Anything we can do to make them feel special is all that matters. It’s not about awareness, it’s not about raising, it’s focused purely at making something that truly means something to them. Every card is unique, every card is custom made. Every card is special for us, and we hope for you.

We make graphics

Pictures that tell your stories, pictures that you can use to tell the story to others, pictures that tell you about Rett syndrome, but then also pictures that tell you about the people it affects.

We write blogs

Blogs to help tell the story, blogs to give ideas, and blogs that explain what is happening in Rett syndrome.

We make designs

Designs that you get printed onto T-shirts for your events, for the the people and friends that support you. I’m going to add a tribute to all those people who’ve been working their butts off getting our message out there and share some of the designs we’ve been responsible for.

We sell merchandise.

Our merchandise is the best quality stuff we can get our hands on, because we want to make things that show the love, care and attention we put into everything here. These objects represent our dedication to people affected by Rett syndrome, and we think they deserve the same love, care and attention.

All our merchandise is currently self funded, that means we don’t get big runs and can’t do as much as we would like, but hopefully over time that will change. One thing we are here, is patient.

Our merchandise options work in two ways.

Supporters (We <3 our supporters)

People who support what we do and come into the shop, or send friends to the shop to purchase 1’s and 2’s. We sell these items at a very reasonable price, the profits of which go back into replenishing stock and establishing new merchandise lines.

Fundraiser Packs

Are designed to help you create awareness at your events. Fundraiser packs are sold to you at cost, the cost it arrives to us at. Plus the shipping cost.

What happens with the money?

What money?

Currently Army of Us does not raise money, we leave people to whichever cause or charity is connected to their need to raise money for. So if you choose a hospice, a Rett syndrome charity or your child’s needs, like an eye gaze or standing frame, that’s your choice, and we totally respect that choice.

The people that make up Army of Us all have their “own” preferred charities they choose to support. Many of us support multiple charities.

No one profits out of Army of Us, we are a non profit and our books will be made available to anyone who requests to see them. The margins on the merchandise are so tiny, they barely cover the cost of the items.

Everything else we pay for.

That doesn’t mean we’re immune to accepting funds, we dearly appreciate it, because it means we can do more.

We have new merchandise lines that are being funded by anonymous donors, we are also happy to give credit to anyone who would like to fund a line. If you would like to do or give something, then please contact us duncan@armyofus.org

Our Pledge

If we ever do make a ton of money, rest assured every cent of it will go to Rett syndrome research, because just like you we are affected by Rett syndrome. Like you the most important thing to us is a cure.

This is what we can give, we ask no more of anyone else. Give what you can.

Here’s to a successful Awareness Month, for everybody. 

Thank you


Here’s that link I promised, I’ll be adding more as I can 🙂

Rett Syndrome Awareness Month & Army of Us

Story of my life

and through it all...
and through it all…

I’ve been writing blogs for some time now, but this is possibly the hardest one I’ve had to write. I want to give you a small glimpse into what it is like to live with Rett syndrome.

Rett syndrome is a complex genetic disorder that affects the connections in a person’s brain, robbing them of their ability to walk, talk or use their hands in any meaningful way.

Rett is a domino effect that plays havoc with so many things; the symptom list is just heavy reading and seems to go on forever. Locked inside her body with no traditional means to communicate, she is literally a hostage to her DNA.

Rett syndrome is something that will profoundly affect your life and the lives of every one around you.

Right now Rett syndrome is a life sentence for him or her.

But for everyone else, the truth about living with someone with Rett syndrome means that nothing is easy any more. All the things you expect your child to grow up and do are not even on your list any more. A simple thing like tying a shoelace, is replaced by lacing them into ankle supports.

I’m not telling you this for sympathy, I’m telling you this for understanding.

The first thing a Rett parent does when they wake up is think about their child and the last thing they do when they go to bed is worry about them. Not “normal” parental worries, rather things like what happens if she chokes in her sleep or has a seizure, how does she call me? They then spend the day worrying about everything in between. There is no respite from the worry, it’s a constant, consuming companion.

For parents of children with Rett syndrome, life passes you by as you care for and share your child’s life, fighting for tiny wins. Those small quick calls to friends, those minutes where you could just dash out to the shop, they’re gone. Not temporarily as you wait for your child to get to an age so you can do it again. They are gone. You can’t just dash out anymore, and chances are you won’t be able to in future, it’s just not an easy thing to do. There is no dashing, there is only meticulous planning and loads of packing. Making sure you have medication, food, supports, wheelchairs and various other every day necessities.

Rett syndrome is a paradox of fragility and toughness, for the people affected by it, it means frustration, pain, and the need for constant care and supervision. The problem here is that as we learn more about it, so we discover that the mental abilities of the people affected by Rett have been severely underestimated.

Walk a mile in my shoes...
Walk a mile in my shoes…

I can tell you that despite all these horrible things they have to deal with, in spite of all the obstacles that Rett syndrome throws in their way, these people are happy. They’ve learned patience that comes with being locked in. They live, love and laugh, they inspire people, bring out the best in people. They make us cry, laugh, live and love. They teach us to take joy in little things, to take pride in small details.

There’s been rapid progress in the field of Rett syndrome since we discovered the gene responsible for it; a few clinical trials are on the way and many more hopes are in development. The only thing that stands between this life sentence and setting them free, is money.

That is the simple fact.

Everything we do on the awareness front is aimed at raising enough money to make a meaningful impact on the progress to treatment and a cure.

There is something you can do for people and families who live with Rett syndrome, you could be just a little more patient, because they need their friends more than ever. It’s not that they forget you, or don’t think about you, it’s that all those precious seconds get stolen and before they know it, it’s the end of the day and they’re just praying that when they wake up tomorrow everything went okay.

This album for this blog is going to be different, it’s slow progression of images over the next few days. I want to take the time and care to explain this, what it means. From the simple space these things occupy, to the knowledge that extends with it.

My friend Mimi spoke about being a Rettologist, I hope to show you how in pictures.

If you want to be part of this story, send me your pictures.

The picture album is here : Story of my life

Story of my life

Say Yes

I fight for Avery.
Avery’s Army will be taking on the Spartan race soon. Every person that pulls a Spartan shirt over their head is making a statement that they are there to fight for her.

It’s strangely coincidental that a discussion with Kelly a couple of weeks ago has led us both to blog about same event, but from a different perspective. Kelly was telling me how she hated feeling helpless and having all her wonderful family and friends coming around to help her for the simplest things was so frustrating.

I told her we need it, we need her to ask for help, because that’s how we can give.

I want to talk about saying yes, and the art of giving.

Giving is possibly the most wonderful thing we can do as people, not just to give for things we are invested in, and not just to give money. Just to give. I believe that giving is one of the things that makes us human.

When we give, we chose to open ourselves to someone and say, you matter, or your child matters, or your cause matters. It’s a very special thing. It’s special because when you give to others, you give to yourself too. You can’t help but feel like a better person for making someone else feel better. We are designed like that, for whatever the reason, giving stimulates our satisfaction cells.

When someone wants to give, let them, say yes. Whatever they can give, let them be a part of this.

I didn’t start Army of Us with a plan, I started Army of Us because I needed a place to do the things I love doing, like Birthday Cards and Profile campaigns. As it developed, it became apparent that there was something else the Army of Us could provide. How to enable families.

What do I mean by that?

Friends and families take some time coming to terms with the diagnosis too, for many of us, we take even longer, as we are not immersed in Rett syndrome from the outset. I know that this is not about us, this is about you, but in many cases we need you to tell us how we can support you.

What we can do is take care of the physical, the practical. We just need jobs, but it’s also all new to us too. There is no manual on how to be a good friend to someone who has received a Rett diagnosis.

When one of us asks you if you need help, we need you to say yes. We need you to say yes because we don’t necessarily understand how to help. So when there is something obvious we can do, this allows us to start supporting you.

With that tiny action of saying yes, it includes us, and we get to learn more about Rett syndrome and what we can do to help.

So if we say, can I lift that, can I move that, can I come around for tea, can I bring tea. Say yes. Your friends want to help, they want to support you. They want to surround you, and show you how much you are loved, they just need to know how.

“Elianna’s diagnosis became the ‘elephant in the room’. Nobody really wanted to ask how things were, not because they didn’t care, because they thought they couldn’t do anything to make it better.” – Anna

So how does that relate back to the Army of Us?

The Army of Us has grown to strengthen your circle of support. We want to give you ideas, plans and even goodies that allow you and your friends to do something about this. We want to enable your circle. To enable them to raise awareness, raise money, create a unified team spirit. We want to do this by showing you what other people have done, and listening to your ideas.

We want to try create a genuine grassroots movement that is centred around the families first, to enable their support system by giving friends and families the tools to help. To be part of the story, until they get to the point where they understand the story (that sounds patronising, but I’m speaking from experience here, it took me a long time to understand Rett syndrome). To be an activist organisation, that does things, rather than expects things.

We’re having a lot of successes too, we already have many tees, pins and ideas in the pipeline. In fact one family has sold 115 Shirts already (here’s looking at you Kristy). With the next big order going through, we will have been responsible for over 800 shirts since we started (not very long ago at all).

We don’t print them all ourselves, if you look in our tee folder we only do one design right now (available soon – we are just setting up a US shop). We create designs for families who take them to their own local printers. These things we design are your things, they are your designs, they belong to you.

You can see some of the community tees here in this album. They are only some of the designs, there are more out there and more coming to the album over the next few weeks.

We want to support your story, and let me make this clear, it is always your story. This is not about us, it’s about you.  That’s how we believe we can enable families, by giving your networks access to things they can do. Right now.

We don’t accept payment for the things we make, designs are free. The physical things are generally at cost. We are not building this to make money, we are doing it because this is what we can give.

That brings me full circle.

Say yes.

To see the album for “fight for her” click here

I want to quote Anna in full because I think she says exactly what we are hoping to be.

“You are so right about what you said regarding enabling families and communities to support these girls. Friends and families feel helpless, especially with a rare disease diagnosis…what are they supposed to do? Nobody knows anyone that can relate, none of my friends and family came flying over with stellar advice on how to deal…they couldn’t.

Elianna’s diagnosis became the “elephant in the room”. Nobody really wanted to ask how things were, not because they didn’t care, because they thought they couldn’t do anything to make it better. Then you designed a Team Elianna shirt. It gave a lot of our loved ones, friends, and family members an answer to their loss. They finally had a role to play, a way to support Elianna and her family without having to have all the answers.

So many people came forward to join the team, help us spread the word. It really does make us feel encircled and held up at times when we need it the most. They have been empowered to help and now I have friends that want to manage fund raisers, hold benefit dinners, donate silent auction items, etc. Sometimes it just takes a little nudge :)“

I say yes, I say yes to fight, I say yes to fight for her. I fight for her to get her stronger.


I fight for her
Special edition Spartan “I fight for HER” Tees for Avery’s Army.
Say Yes

The butterfly effect

Flitty power.
I’ve got you, under my skin.

The Butterfly Effect

On the 16 of September last year, in New York I went and got Flitty tattooed on my wrist. The tattoo represented my God daughter Carys and for me it symbolised a mixture of my hopes and dreams for Carys and all the girls I have come to know, but also most importantly my commitment to my cause, Rett syndrome. Which is perfect, because it is exactly what she was designed to do.

Flitty is something I am tremendously proud of; with all the designs I’ve done, none of them stand as high. In many ways her popularity took me by surprise. I expected people to like her; I never expected them to love her the way they did. In Flitty we created a symbol that people loved, to the point of tattooing it on their bodies. In 25 years of designing brands I have never had that honour (and I’ve worked on some big brands).

Well as they say the rest is history, and her history is that she has been tattooed on more people than I can count, she has been shared in paper, digital and movie form, she’s been on pins, decals, banners and flags. She’s covered the heart space of many a tee shirt, and will be worn on wrists eternally.

With this all in mind I wanted to explain what went into Flitty and why I believe she is special.

The birth of Flitty

The Butterfly effect is a chaos theory, about how one tiny action can snowball into something huge. It’s a big reason I chose to use a butterfly when I created our logo. I hoped we could be a charity that cared about the little stuff, so much so that it made big stuff happen.

The butterfly metaphor went so much deeper than that. The over-riding truth is that we all hoped our actions will be instrumental in helping people affected by Rett syndrome, enabling them to to live a life free of the boundaries of Rett. She represented our hope that one day we could be involved in beautiful change.

James and I spent a lot of time looking at images that were being shared by families and people affected by Rett syndrome, and we researched the top 100 charities in the UK, trying to understand the stuff that makes a great charity brand.

We knew we wanted her to symbolise the love we have for our girls, and I knew I wanted to compose her from meaningful icons. I wanted to make her easy to draw and memorable, so she could be made in snow, spray painted on walls and scratched out on beaches.

There are a few things that every person in the world can draw. A heart is one of them. So using the heart as the basis for Flitty was an informed decision.

We needed her to reflect our approach to care as well the cure, with blue for cure and pink for care. These colours are intrinsically connected to the psychology of colour and I wanted to make sure every detail was apt.

Where the pink and blue meet and overlap, it forms a little purple diamond. Purple is a colour that has for a long time been associated with Rett syndrome, that diamond is a little tribute to our history and all the great work that has brought us to where we are now.

Flitty is simple

She’s also not that simple; each wing heart is composed of multiple layers of colour and transparencies. Yeah it sounds silly, to achieve what is essentially a blue and pink gradient, but it’s not. I’ve always said it’s the little things that count and I still believe that is the case. The details are as important. It needs to be delicate, like a butterfly’s wing.

She needed to be designed so she could be a standalone in loads of other merchandise, like shirts, bands and pins. I needed her to be a strong silhouette, so she could always tell the story of connection no matter where we placed her. Whether that was on a Hard Rock poster or a scene from a Disney poster.

She needed to be delicate because she represents the delicate nature of Rett syndrome, how a perfectly healthy child can be in hospital in the next instant. She needed to be strong to represent the tower of will that, every day, is used to fight what Rett syndrome has stolen.

Flitty was a long, thoughtful, considered process, I like to think she was born and not created, but that’s just me wishing again.

So why am I telling you all this?

Recently I had two amazing shares; people are still tattooing Flitty on their body.

That is a very brave and committed decision, it’s also always going to be very special. They are tattooing their hope onto their skin, just like I did a year ago in New York. Flitty was born, born out of hope.

That got me thinking.

Flitty belongs to the people who have her tattooed on their skin, to the people that have her pinned on their bags or worn on their wrists. Those are the people who should be deciding her fate, those are the people who have the largest vested interest in Flitty. We (I include me) are the people who have her coloured into our skin for the rest of our lives.

Flitty is yours

Flitty has her own destiny, for anyone to use when they want to share their hope and their dreams and just talk about Rett syndrome. For all those people who have her tattooed on their skin, she has a permanent place, where she can never be set aside.

Since I sent a request out for Flitty tattoos from facebook page, 4 new people have since decided to get her tattooed on their skin. I know, I don’t have even a quarter of all the original ones, unfortunately they have been deleted. If I had known I would have saved them.

If you want to add to the wall, please send me your picture 😉 and if you know someone with a Flitty tattoo, then please, please, please ask them to get in touch.

All of Flitty’s resource files are available on request. As soon as I have time I will add them as a download to that page, but if you’re looking for something in the meantime, please contact me.


To quote one of my favourite songs.

I’ve got you under my skin
I’ve got you deep in the heart of me
So deep in my heart that you’re really a part of me
I’ve got you under my skin

A little movie we made of Flitty some time ago: Click here

To see the album : Click here

The butterfly effect

Rett syndrome research – What’s happening

I <3 SCIENCERett syndrome (RTT) science is REALLY important to me, as are the people dedicated to finding cures and treatments for RTT . So much so I’m making it my mission to explain my stance on the subject of RTT science.

Let me point out that I’m not a Scientist or a Doctor, I’m a just an average guy with an obvious interest in what’s happening. The explanations in this article are my own, I try to simplify things in order to process them better. I try to go to the source where possible, but appreciate that these are busy people, who have more important things to do than be pestered by me. 

I think it’s important to highlight what is happening and what is changing in the RTT sphere. It’s important to tell all the fabulous people who donate to our cause, what exactly you’ve been paying for, and how your donations are helping. Please remember this is only a very small look at the research that is currently going on.

Why do we have hope of a cure?

Before I go into what’s happening in Rett syndrome research, I wanted to tell you why we are so hopeful. Successful trials like the Gene Therapy Trial in Metachromatic Leukodystrophy (Symptoms which are in many ways similar to RTT) or the Team of Scientists who recently silenced the extra chromosome in Down syndrome, prove that what we are all working towards is achievable and not just a dream.

There are many complexities involved in this kind of research, it truly is the cutting edge of genetic science and every day we learn a little more about MeCP2 (gene) – MECP2 (protein expression) – Mecp2 (Mice) (if you want to know the difference, click here) as teams all around the world work tirelessly to find out more about it.

RTT Science

There is an intense focus on three types of science in the RTT field, called Discovery, Translational and Clinical science and we (as a community) are committed to all of them. These are not the only types of science, they are also not the only “arenas” in which we are looking for treatments to aid people with Rett syndrome, or even families and carers, but they are the areas with the most prolific activity. Elizabeth does a great job of explaining the differences between these three sciences in this post on her blog.

Discovery Science – Generating Ideas

Discovery science is focused on developing or proving a concept. Like Dr Adrian Bird (Funded by RSRT) Reversing Rett syndrome in mice for example, who is still working towards human Rett reversal.

The trouble with genetic medicine, is how you deliver the gene change, and part of the discovery process is not just figuring out how we cure it, but then how we deliver that cure. Viral delivery systems have been successfully tested, as Elizabeth explains in this blog, but there is still a lot of work to be done in this area, because the delivery system can not distinguish a healthy cell (one expressing the normal MeCP2) from an unhealthy cell (one expressing the mutant MeCP2).

Both Rettsyndrome.org and RSRT have Discovery science projects underway, there are MANY other organisations too, but I’m going to talk about the projects I know about. 

I try to follow as much as I can, but it’s almost a full time job, and I already have an “another job” on my plate.

Translational Science – Turning Ideas into medicines

Translational science is focused on putting a proof of concept into practice. So we’ve discovered that Rett is reversible, how do we go about making it happen, how do we put it into practice? 

Both Rettsyndrome.org and RSRT have translational studies underway.

Clinical Science – Testing the medicines in a clinical setting

Taking the information learned from discovery and the practice created by the translational and turning into something to actually test on patients with Rett. This is the area that truly interests me, while Discovery Science is vital to our cause, in reality there is a longer timeframe before anything we have in the discovery area will impact lives in the very near future, because it has to go through the discovery, translation and clinical studies, then deemed fit for use before it makes a difference. Clinical science potentially, can have an impact in the very near future.

For example, drugs that already exist in the market. 

Two prime examples of this science at the moment are IGF-1 and NNZ-2566, but there are many different examples of in RTT Sphere at the moment.

There’s also been some discussion and hope around Dr. Monica Justice’ study into Statin’s, and how they suppress symptoms in mice. 

It’s important to know that RTT research into drugs and science that already exist and are being used for patient care right now. What that means is that treatments can be fast tracked (like NNZ-2566) and delivered to patients in a much shorter timeframe. Progression is important, even if we are beating RTT one tiny step at a time, we will eventually succeed.

In February of this year, one of the studies that I am particularly pleased about was announced. Dr Julian Paton’s, University of Bristol, a preclinical breathing study into NLX-101 from Neurolixis, which is being part funded by Cure Rett through Rettsyndrome.org.

Dr Paton’s study tackles an often overlooked area of Rett syndrome, breathing. It seems to be one of the last symptoms people talk about in the Rett sphere, often more concerned with the damage of seizures and or Scoliosis and Osteoporosis, but the truth is that breathing is a massive problem to any person with Rett syndrome. Breath holding, Apnea, hyperventilation and a number of other issues are at the core of the problem. Driven by anxiety and pushed into a vicious cycle of suffering, this symptom can cause so many knock on problem. Have you tried to do something when you’re short of breath? Breathing is a very serious and very real factor that affects every person with Rett syndrome.

A short time ago RSRT also announced that it was funding research into NLX-101, my understanding is that it is a dosage study, I plan to find out more.

Both big charities focussing on the same drug shows us there are high hopes for this drug, more importantly, by funding these two very important aspects of it, it means that we can get out of preclinical and into clinical trials far quicker. Which translates to treatments for the people who need it arriving faster.

This is not the only breathing study into Rett syndrome with Revive Therapeutics recently announcing positive results from a pre-clinical trial into Tianeptine, traditionally recognised as an anti-depressant. 

There is a lot of hope that breathing could be improved by these drugs, and therefore impact the quality of the life of its patients right now. All of them exist in the market place, and are already used for various other treatments.

At this point I must stress, as with all existing drugs, it’s not advisable to try get your hands on them and dose your kids. The clinical studies are all about testing the toxicity of the drug and also about making sure that the dosage is correct.

Self medicating is incredibly foolish and very dangerous, get it wrong and it could have a catastrophic effect on your patient.

Treatments and Cures

In an ideal world we are all hoping for a cure, but realistically we need to be hunting treatments as well. A prime example of good treatment is Insulin in Diabetes, Diabetes has not been cured but it is treatable. Diabetics live much longer and healthier lives than they ever did. There is still no cure, but the treatment allows them to live a pretty ‘normal’ life.

Why is this relevant?

I am fully committed to ALL of these studies, we know that this is the vital stuff that will result in or lead to a cure. I LOVE science, I LOVE scientists (Doctors , Geneticists and all the fabulous people helping us discover and fight Rett syndrome too).

That doesn’t mean that these are only two areas RTT science should focus on, there are other elements in the science world that are crucial to our understanding of Rett syndrome, and therefore also crucial to how we tackle it in future.

While most of the research has been based in the “Diagnosis” and “Treatment” spheres, Rettsyndrome.org’s Steve Kaminsky has been looking into the sphere’s where there’s little to no research, such as “Clinical Evaluation” and “Evaluation and Rehabilitation”. In my discussions with Steve, he has often highlighted how important it is to have a well rounded approach to the science, not to throw everything into a single sphere, but rather to plan meticulously for all scenarios. Steve believes that co-ordinated research and data collection is a vital ingredient in the Science.

There is only so much information you can capture under a microscope and in a lab, but observation and diary studies play a huge role in the greater understanding of RTT. Why is this important? Remember, it was a nurse in Dr Andy Rett’s practice who observed similar behaviours which lead to the initial identification of Rett syndrome. Observation is a crucial part of any process.


A Co-ordinated approach to Clinical Research, Basic Discovery Science and Rehabilitation Science with provide us with a stronger understanding of need and a better long-term solution.

A great example is the Natural History Study run by Rettsyndrome.org. The kind of information the Natural History Study is collecting will form the basis of our understanding on how Rett Syndrome develops and progresses, because it records milestones and changes, across the same baseline, using the same data capturing techniques.

Now data is something I know about, and data excites me. Data is knowledge and knowledge is power. Data is the cornerstone to understanding the progressive impact of RTT over time, data adds detail into the unfinished picture. Anything that collects this vital data is a treasure to us and needs support too.

These are not the only tools we use to capture information, RettBase and Interrett, both are crucial tools to create a world wide picture of Rett syndrome and to ensure that the data we are collecting is shared for all our benefit.

To run this kind of study you need clinics.

Did you know Rettsyndrome.org now has 16 clinics recording this kind of information, if not, you’re not alone. Hopefully this is something else we can change, to start highlighting the wonderful work they do with the Science. They are not alone in this, we need to start telling our supporters what their generosity is enabling.

Why is this important information? Well it’s important because you can’t run clinical trials without clinics and clinicians. It’s that simple, besides all the other pretty obvious reasons for why Rett clinics are important, that’s a vital piece of information.

That’s not the only thing that’s important though. There are other studies which are proving things like the benefits of good cholesterol in the welfare of the girls, like the fish oil study done Santa Maria alle General Hospital in Italy. They published their findings in the journal Genes & Nutrition. (To read it click here)

So what does does all this information mean and how can we use it?

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

While we wait for a cure, those treatments that aid your child, inspire your child and help them communicate. Treatments that keep their bones strong, their muscles active and supple, that stimulate their minds, are just as vital right now as the search for a cure. There are symptoms that we can tackle right now, with proper Physiotherapy, beds, seats, standing frames, computer aided tech and even Audio Therapy.

So when someone comes along with a discovery that helps, in even the smallest way, it’s important to talk about it. Do I think it’s more important than a cure? Of course not, that would be stupid, but it doesn’t mean it should be ignored at the expense of a potential cure.

The choices are yours to make as a parent, you can put your faith in whatever product makes you feel comfortable (with advice from a professional in the area naturally), or laugh at the products you think are silly. Without proper study, the effect of some if these things cannot be proven (That’s what trials are for).

What we do know is that no one knows you better than your children do, if giving your child fish oils makes you feel less anxious, it’ll probably have the same effect on your child. The placebo effect is immensely powerful, hence “Placebo Controls” in trials. So whether you believe it has a foundation in science or not, how you use this information, is totally up to you.

Technology and Rett syndrome

No matter how you feel about the medical science, you would be a fool not to take note of the advancements in technology. After all it was technology that first gave sight to the blind (eye-glasses).

Amazing technology is being developed all the time, one of the more obvious pieces of technology is eye gaze tech.

Eye Gaze

Anyone who knows me will know how much value I put in eye gaze equipment, these computers have been a tremendously powerful tool in my industry for quite some time (I’m a User Experience Architect in my day job). Not everyone is successful with Eye Gaze, but there are many success stories and I predict there will be many more, as more and more people get their hands – or should I say eyes – on this amazing technology. But don’t test your child just once, if she isn’t successful the first time, test her again after a short period and then again. These tools advance at a rapid rate. Believe in her competence. 

There is footage of eye-gaze controlled robotic arms and wheel chairs, and talk of speech generated messaging. The rate at which this technology is developing is astounding, as it gets better, so it gets cheaper too.


Did you know that chips implanted in brains are a reality right now, they’re helping deaf people hear, blind people see and a very interesting one, they are reducing the effect of Parkinsonian tremors in Parkinson’s Disease. Why’s that important, because it’s one of the symptoms of RTT.

Advancement into brainwave reading technology is happening at an alarming rate, who knows what kind of impact this might have on people with Rett syndrome. It’s just another illustration that not all treatments are coming from the medical arena.

More on Neuroprosthetics.

Habilitation (rehabilitation)

All these advancements are a great thing for Rett syndrome, the more we understand it, the better we get at finding answers to the complex problems it throws at us. We get closer and closer to that one vital discovery we all crave, a CURE, but the journey doesn’t stop there, because that’s when habilitation starts. 

Habilitation, in the case of Rett syndrome is all about learning news skills which in many cases the patient never acquired. Which is why it’s vital to think beyond a cure too. This is vastly different to rehabilitating brain injury, like you would a stroke victim. 

Whether we offer a cure or a treatment that corrects some biology in Rett, we will have to have a strong habilitation program because the existing programs designed for traumatic brain injury, might not be optimal for the patient. We need to identify the best ways to re-engage the the Central Nervous System and take full advantage of neuroplasticity (the brains ability to re-organise itself).

I cannot stress how important this is, imagine the pain of coming all that way along, if we cannot overcome the final obstacle.

Products like the Upsee are vital to this area, as they create the memories or experience in the brain that she will call on in future, as well as all the other great things.

The cure for Rett syndrome is not a single thing that is going to automatically fix everything. It’s a meticulous approach that covers vast array of needs. We need to plan accordingly, we need someone to be working on a pathway to success and to think about all the elements that will truly break her free of the chains of Rett syndrome.

So do I believe in the science? ABSOLUTELY!


It’s why I am so positive about the future. These are the studies and advancements your donations and hard work have paying for. You are the people who have made this all possible. I can’t thank you enough, but the journey is not over and we need help more than ever. 

We have come so far since DR Huda Zoghbi identified the Rett gene in 1999, but  there is so much to do..

Thank you for being such a big part of our journey.

This blog would not be possible without Dr Steve Kaminsky taking time to help me explain things in the best possible way. I’m eternally grateful for his friendship, he’s made me think about Rett syndrome in a new way.

Elizabeths blog (www.graceforrett.com) is a constant reference to me, I hope you it as much as I do.

This blog is built around my experiences and knowledge, clearly I don’t know everything. What I look for in everything is a sensible approach that is understandable, transparent and measurable. I want outcomes.  I will never tell you which charity to support, that decision is yours. I choose to support “projects” and families. The very first person I think you should choose to support is your daughter, put her needs first and then worry about everything else.

If you would like to know more or to get more information, please contact me. If you’d like me to find out more about other projects, then contact me too 😉 Researching this kind of thing is all about access, I don’t necesarily have the clearance, but I’ll always try 🙂 duncan@armyofus.org


Rettsyndrome.org – Rettsyndrome.org

– You can read more about Rettsyndrome.org’s extensive Research Programs here

RSRT – Rett Syndrome Research Trust

– You can read more about RSRT’s extensive project list here.

Cure Rett – Cure Rett


Other links

Rettbase – http://mecp2.chw.edu.au

Interett – http://www.aussierett.org.au

Tobii for eyeGaze – http://www.tobii.com

Upsee by Firefly – http://www.fireflyfriends.com/upsee 

Everything you need to know about Fish Oil – http://www.graceforrett.com/rett-syndrome/r168x/fish-oil-rett-syndrome-everything-i-know/

Rett syndrome research – What’s happening