Katelin and I had the great pleasure of being invited to ACADIA a couple of weeks ago for Rett syndrome Awareness Month. Last week I posted Part 1: Awareness; I had PLANNED to follow that closely with Part 2, but a little thing called the “Official initiation of Phase III” interrupted that plan! But, this part is especially important now that the trial has officially started.
I have held ACADIA and Bill Keller, Executive Director; Patient Advocacy and Industry Relations, in high esteem since I first met them over a year ago. I was struck by their commitment to the families- how can we make this process easier for families. I was reassured by how important they believed US to be in this process. They interviewed multiple families, had an in-person roundtable with families in Princeton, and reached out to people and organizations that could give insight as to how to best run the trial in a way that supported families. I was reassured then, now I was given assurance.
One thing Bill Keller said that really resonated with me because of the sincerity and sense of duty that he said it with- (paraphrasing here) “I met Steve Kaminsky and he told me that since this drug (Trofinetide) existed it was our responsibility to get it to families.”
And that sense of responsibility is clear in everything ACADIA does-from listening to their employees’ desire to learn more about Rett syndrome from families to setting up a website weeks ago that put families in touch with sites. Despite all that, the one thing that sealed the deal for me was this-
ACADIA wants to hear from US, the Rett community-
Can you please let me know, so that I can share with ACADIA, the resources and support that you value most in caring for your Rett child by way of getting new information?
We also talked about community support programs such as Strollathons etc. but it would be great to know, if ACADIA attended these events, what information would you value the most. Keeping in mind they aren’t able to divulge anything about how the trial is going, but should they be a presence at these events ACADIA wants to make sure that they are providing something of value and not information we already know, which would cause frustration.
Let’s pull together and give them options to choose from. This is not a company that is saying… we’re the scientists, you’re just going to have to wait until it’s all over and deal with it… they’re saying, “We are in this together.” Something along the lines of “It takes a village” to do this Phase III and all its aspects right.
What assurances did we get?:
That they are systematically having sites inspected and rolling them out as soon as possible.
That all issues with manufacturing-such as multidose storage etc. have been resolved.
The mere fact that the trial is a go means they have enough Trofinetide in four different tiered doses for every child in the trial and for Lilac 2-an extension to (hopefully) cover from the end of the trial to approval.
That ACADIA has a plan in place to assist families with the costs of trial participation.
That ALL the families matter, those in the trial and those that don’t qualify because we’re all going to get it if (when) it gets approved.
I will forward suggestions to ACADIA in a couple of weeks, giving YOU-parents/grandparents/caregivers a chance to participate in a real way. ACADIA feels that trial participants are not the only ones who can make a difference. Here is a chance for those with children/adults that don’t qualify for the trial itself to contribute in a positive and meaningful way.
You can leave a comment here, on my main blog: Trail to a Texas Trial, on Facebook or email me at firstname.lastname@example.org.
We’ve got this. We’re in good hands with ACADIA and Neuren.
Well yesterday’s post WAS going to be the last one this month but then I got an email from Acadia- “Hot off the Presses” it said and then this announcement- ACADIA Pharmaceuticals Initiates Phase 3 Pivotal Study of Trofinetide in Rett Syndrome, a Rare Neurodevelopmental Congenital CNS Disorder The tears started around the word “initiates” and by the time I got to “Trofinetide” I was a blubbery mess, snot and all. Within minutes of posting it to Facebook, I got a call from another mom and there we were the two of us crying, swearing, cheering, making no sense and so much sense all at the same time. I count that as one of the precious memories I hope to carry all the way to my grave.
Following quickly on the heels of that was this announcement from Acadia- Trofinetide Phase-3 Clinical Study Update There’s a lot of pertinent information in there, so please take a look. The thing that jumped out at me are three sites- Phoenix, AZ; Houston, TX; Chicago, IL- have already started screening. Now, I KNOW some parents are getting responses along the lines of… we already have so many interested families… do not be discouraged, reach out to sites further down the line and also remember unfortunately not every child screened will pass the process, so we NEED more interested families than spots in order for them all to get filled.
And lest we forget where it all began- Neuren released its own announcement . So, in case you all couldn’t guess, this is BIG, BIG NEWS.
I know that as we each have read these announcements the possibilities that come to us are all different. In a moment the “never gonna’s” have become “maybe will’s”, “could it really be possible’s” and while I am totally on the side of Trofinetide making a difference, I can’t possibly guess if all girls will be affected eventually in the same way, but I believe with all my heart and soul that at the very least some of your “never gonna’s” are going to go away. I believe you will hear the lilt of your child’s voice in some way that everyone will hear and understand. I believe hands will do things that may be very small or huge and it will seem like a miracle.
There are still things we need to know- is there a cap on improvement, meaning eventually is there a place where our children can’t improve anymore when we see there is still room? Are there side effects with long term use? Each and every family that partakes are heroes to all of us; even those who don’t end up qualifying, you tried and that’s everything in a world where trying can be so hard and defeating, it’s so very brave to take that chance.
The race has begun, the horses are out of the gate; I’m betting on ours, the one with the purple-headed jockey; I’m betting on us.
This Blog is hosted on behalf of Mel Lancaster, whose original blog was silenced.
I like to end this month on an up note and that presented itself when I was invited to speak at Acadia in San Diego. Bill Keller, Executive Director; Patient Advocacy and Industry Relations, of Acadia wanted to do a Rett syndrome Awareness event for the employees of Acadia… because the EMPLOYEES wanted to know more about it and to get a sense of the families and children they are working so hard to help.
Now, had Bill told me the scope of the audience I still would have showed up but probably with a liiittttle bit more trepidation. And, I wouldn’t bring it up except that I want you, the reader, to understand the interest and to know that this was a voluntary event. There were so many people who wanted to be there that our interview had to be broadcast to another room, there weren’t enough chairs for everyone and people were standing AND it was being broadcast as a webinar to Princeton.
Katelin, Flynn and I were met warmly by so many of the executive staff and made to feel so very welcome. Bill had asked what kind of food Katelin liked and damn! did they get it right. My girl feasted on Chicken Alfredo and then feasted on my Chicken Alfredo, lol. and, get this… Katelin’s wheelchair was in need of some minor repair but it was making it difficult to use and Bill promptly called the maintenance dept and it was zoomed away and came back as good as new! Thank you, Juan! There was a photographer snapping away. I’ve been sent four pictures, two of them have Flynn in them. I have to wonder if the other two are the only ones that didn’t have Flynn, lol, she was VERY taken with our boy. Needless to say, we were treated like very honored guests.
It was a big deal. Probably one of the biggest deals I’ve ever participated in. There was a briefing, a debriefing, sound checks, I almost felt like I was on a News talk show. I had a portable microphone. It was an experience I can hardly believe Katelin and I were invited to. I can only hope that I represented our community as well as it deserves.
The first thing they showed was a video of Katelin of her initial journey with Rett syndrome that I made as a NNZ-2566 trial fundraising video (I edited the very end out that was asking for donations ) Luckily, Bill had forwarded the questions to me in advance so I was prepared and I will share some of them with you.
Can you share with the ACADIA team some of the activities that are going on in the local community around Rett Syndrome? :
I, of course, brought up the strollathons, and golf fundraisers, the LA Feast, but other events that I feel are important for the community are events like the Paint a Purple Pumpkin, and the Paint Your Nails Purple and post a picture. These are important for our community to feel connected to each other. One of my FAVORITE events is Blue Sky Day and the message it sends- so symbolic of our climb as parents to help our children, find a cure/treatment and symbolic for our children- the effort to achieve every little advancement in their own personal lives.
I recently participated in a podcast series and shared the link with Bill- To listen to the episodes, please visit anchor.fm/remarkablepodcast or search for “Remarkable Rett” wherever you listen to your favourite podcasts.
What about other clinical trials and areas of research?
I mentioned GP2C here. They did a great article about the different trials going on this year. The ones specifically I mentioned were the Sarizotan trial; Anavex 2-73 we discussed the Epidiolex trial in another question. I know there are two that I missed- the Ketamine trial and Triheptanoin UX007. The Ketamine trial is something I’m excited about. I haven’t yet researched Triheptanoin UX007.
I know that you have been following the Rett Syndrome research space for years. What is going on that excites you about future developments?
Well, of course, I said the Trofinetide Phase III excites me, lol. But, there are other developments as well. Anavex 2-73 is an exciting possibility. One area that is intriguing is the use of stem cells and one recent practice is feeding a fresh placenta to children, you can find out more about it here- Placenta Preservation. But, what excites me the most is the sheer number of trials in some stage of development or another.
Can you share your opinion about a topic we hear a lot about in California which is medical marijuana? Does it have a place?
I freely admitted this is not an area that I have expertise in. Mostly of what I shared came from reading accounts of other parents. I said it definitely has a place, whether it’s Charlotte’s Web or the like or other systems of delivery, like Epidiolex. I also brought up other alternative therapies such as essential oils and other naturopathic therapies. But, because this is not an area I can really give in depth insight on, I referred to Syndi Knowlton of Utah Kids.
Can you share with the ACADIA team your recent introduction to Dame Margaret Brimble and her role in the development of Trofinetide?
How is Katelin doing today? What are you excited about for her future?
What is your greatest hope?
These two go together. First, Katelin is doing very well. She’s healthy. Her spinal rod surgery went as well as could ever be expected- her back is straight, she grew almost 6 inches and she hardly ever chokes in her sleep anymore.
My greatest hope and what I am excited about in her future are intricately linked. Trofinetide is my greatest hope. *disclaimer: her trial has not been unblinded, this is my personal opinion* I’ve seen it at work. My daughter has felt it at work. Katelin has only love and admiration for Trofinetide and the people who work on it; it’s obvious every single time we do something like this, meet people involved in the trials, when we met Margaret, when we meet James Shaw and Dr. Nancy Jones of Neuren. She KNOWS it works and she’s waiting very patiently for it. Sometimes when she’s very upset, I tell her…when Trofinetide comes, this will be alright… and she calms right down.
What am I excited about her future??? College. I fully expect that Trofinetide will enable her to communicate/speak well enough to attend classes. She is going to get to LEARN what SHE wants to learn-space, biology, maybe even writing! (be still my heart )
After our interview there was a short Q & A; the one question that struck me the most was- We’ve had several parents here now and you all seem to have such joy, why is that? Well, I did joke that we were when we were there! (In my mind I was thinking- we get a great lunch and don’t have to clean up, it’s like a vacation!) However, for me, this is why I think we are able to find joy in the face of everything we deal with- we learn that the little things are the big things and the big things that most people worry about are nothing compared to those little things. You learn that showing your child a butterfly or smelling all the different flowers while you’re out walking keeps you young and reminds you of the miracles all around you. When a butterfly lands on you it can sustain you, because really, isn’t that a small miracle? Simply put we learn to be present in the moment and find the joy.
Recently, there’s been a disconnect in our community and I want to say, this experience proves to me that our hope is dependent upon all the different facets that parents promote: fundraising, research, awareness; even if it doesn’t always look like we think it will.
Without funding there is no research or trials, without trials there is no hope, and awareness isn’t needed just for those things to occur; it’s for people like the employees of Acadia- people who are going to work every day to save our children, who want to know why they should, who deserve to be told that we are grateful; people who deserve to see the children they are going to give a voice to; people who deserve to know that we are committed right alongside them to help our children, that we are not just waiting for others to be our saviors. Neuren and Acadia, among other companies, deserve to be made aware that yes they get a paycheck, but there’s a reward of a lifetime waiting at the end of trials- saving thousands of lives. Not just, hopefully, that they survive better but that they truly get to live.
Watch for: A Day with Acadia- Part 2; Assurance! Coming next week!~
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
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.
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.
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.
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).
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.
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.
BOYS GET RETT TOO!
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.
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.
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.
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.
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
This awareness month, Army of Us has been all about Revolution.
We’ve shared awareness images with our take on famous propaganda posters, created profile flags and made timeline posters. But what do we mean when we talk about revolution in the context of all of us living with Rett syndrome?
A revolution often happens when people demand change, when there is a tipping point and the status quo is no longer acceptable to the majority. Rett syndrome is obviously a big part of what we face and how we feel, so it is easy to say that our revolution is about ending the direct – and indirect – impact it has on our lives and those around us. We hope that our families and colleagues who see these shared items in our timelines realise that, to us, this is a struggle and a fight that we are in. It reminds them that we need their help and support if we are all to rise up against Rett syndrome.
To me, revolution has a deep and profound meaning when viewed in the context of our battle with Rett syndrome. Like all revolutions, the movement starts from a small group of people, with an idea or vision. Often this group face overwhelming odds. As I sit here and write this today and think about my own journey over the last seven years with Carys, it reminds me of just how overwhelming those odds were to me when we first received our diagnosis.
Like most people, it took months to come to terms with the news that our lives were going to be different, especially of course for Carys. And like most people in fight, I looked for a quick win. I wanted desperately to make Rett syndrome go away. When I heard of a promising study and potential treatment to reverse the symptoms of Rett through a bone marrow transplant, I committed myself fully to the fight. For months I fund-raised relentlessly and grasped at any straw that made it look like I didn’t have to deal with this diagnosis. I thought the battle was won.
It was heart-breaking to learn that this study wasn’t reproducible, and at that point my morale was at its lowest.
That lesson taught me that the fight we are in is a war of attrition. It is a long, sustained battle. Whilst we may have some promising research on the horizon that will help us win, we need to remember that we need to survive now to see that day. A war of attrition is won through marginal gains, by wearing the enemy down. It is so easy for Rett syndrome to wear us down, and even more distressing when we turn on each other too. But we need to focus on these marginal gains too.
A cure will come and I am cautiously optimistic about the potential for gene therapy. We know that in three years, with FDA approval, we may start a small trial to test the first types of gene therapies that are starting to become available. There are lots of risks associated with any Phase 1 trial. It is not clear to me if this type of therapy will be successful. A trial takes many years to complete before most of us will see the benefits, and it is also unclear how this will affect Carys who will most likely be an adult by the time is available.
For this reason I am also incredibly excited about the Trofinitide trial which will soon enter Phase 3. Although this will not be a cure, it is something that, in the next few years, I hope will make a difference to Carys. Even a small gain in her ability to sit, walk, use the eye gaze will make a big impact on her life.
Here is how we fight back, and how I believe we start winning this war today. It is the advice I wish I had received when we first received our diagnosis.
We should view all potential treatments with caution, and not allow ourselves to relax or to become complacent. There are things that we do every day that helps us win this battle, and helps me fight for Carys.
Every day we maintain her ability to sit and stand
Every day we personally ensure she has eaten enough calories
Every day we work on her communication, both low tech and eye gaze, at school and at home
And every day I love her, cuddle her and let her know that I am proud of her and include her in everything we do as a family
The best thing I ever did was to presume Carys’ competence, and to treat her accordingly. It turned out that she was waiting for this all along. She also had a lot to say, and that surprised me, delighted me, and motivated me to continue the fight for her.
We would love to hear what the Rett resistance means to you? Should we keep this campaign going after awareness month? And what form should that take?
Real flags? Real tees? Should we continue creating posters and profile frames?
We appreciate hearing from everyone who reads our blog, and shares our message.
Also, please ask if you are unsure about the science and detail behind any of these trials. I am constantly learning and am happy to be corrected if I have misunderstood a study.
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.
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.
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.
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?
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.
I think this paints a picture of behaviour for many of the girls, who seem to cycle through bouts of depression.
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.
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.
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.
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.
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.
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.
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 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.
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.
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.
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.
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)
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.
A 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.
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.