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.

duncan@armyofus.org

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.

science-venn

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.

Neuroprosthetics

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!

I LOVE SCIENCE!

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

I’ve got you to hold my hand

This blog was inspired by some photos that Crystal shared with me, of her daughter holding hands with the people that truly matter in her life.

I've got your to hold my hand.
I’ve got your to hold my hand.

The thing about the journey with Rett syndrome is, is it not something you should ever have to do alone. The family is there to support your child and your friends and family are there to support you.

I’ve spoken about friends before, there are some amazing people that will surround you with support and lift you, carry you from those horrible places. The friends that arrive at hospital with a cooked meal, that child mind while you nip to the shops, the friends that run marathons, overcome obstacles and even climb Everest for you.

Through it all those are the people that pull you through, the people that are there to hold your hand.

It’s not just your hand they hold, it’s hers. Making sure that people are there to hold her hand too, the people that give her the love, the care, the attention and the affection, that help her deal with all her obstacles (and there are so many).

Hands, they’ve come to represent Rett syndrome, because it steals any purposeful hand movement, and very often replaces it with, wringing, washing, rubbing. Sometimes we hold her hand to give respite from this, sometimes we just hold her hand because we are trying to to comfort her.

The outlook for Rett syndrome is very positive, we beat it a fraction day by day as we fight to find that leap that will fix it, but that doesn’t allow us to forget about the now. That now can be very hard, you can spend weeks and in some cases months in Hospital, when you life goes into a holding pattern. Minutes, hours, days blur into weeks, it seems like it’s forever just sitting, holding her hand. Not just in hospital, but at home too, holding her hand, kissing her hand, sending all your love through that physical connection.

I've got you to understand
I’ve got you to understand

The comfort that comes with holding someones hand, is not just comforting for them, but comforting for you. We don’t just hold anybody’s hand, we hold the hands of the people we love and trust the most in the world, the people that are a part of our lives. Holding hands is a physical expression of love and comfort, so when someone takes your hand, it’s a precious gift of opening themselves up to.

That’s why we spend so much time holding hands.

And that is why this album is so precious, as this steady steam of support passes through Gabby’s life, they show her love and she reciprocates. They let her know they are there for her, to love and support her, they let Crystal know they are there for her too. They do it by sharing the intimacy of holding hands.

We are stronger when we are supported, we are stronger together.


 

The Album can be seen here : Hands Album

I’ve got you to hold my hand