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