However, this got me thinking … maybe a letter also needs to be written on “How to tell a family that their daughter has Rett Syndrome” or at the very least – how NOT to tell a family. In MOST Down Syndrome diagnosis’, the news comes immediately at birth or shorty after, mainly because there are physical features that allow a diagnosis to be made, or at least a concern for a diagnosis – heck – some families even get the diagnosis BEFORE birth if special tests are performed. (Even though that was not my diagnosis experience for my son.) However, for Rett Syndrome things are very different.
For most families, our girls have an uneventful birth. No concerns, a tiny little bundle of miracles just waiting to tackle life.
We watch as our beauties begin to sit up, to crawl, to feed themselves, talk, the usual. Now, don’t get me wrong, some of our girls are slower to meet these milestones and some do not develop language or walk on their own. But NONE of our girls are given the diagnosis at birth as with Down Syndrome.
As we watch our girls grow and become these beautiful toddlers, something happens…..milestones stop being met on time…..then…..it is as if time starts to move in reverse.
We watch as our girls start to stumble as they walk, many of them continue to stumble and fall until they just can’t get their feet to take that next step. We watch as our girls go from stuffing their faces with cheerios or spaghetti to just looking at the food on their trays….unable to get their hands to their mouths. We go from hearing things like “mom mom mom, doggie, book, eat”…to silence or even worse, screams……and it is heart breaking.
We know something is wrong, but Rett Syndrome is so rare we often stump doctor after doctor after doctor. If we DO get a diagnosis it is often wrong – we hear Cerebral Palsy, Autism, Angelman, and a few others. Our girls endure test after test. But then, sometimes – we get in front of the right doctor that suspects Rett Syndrome. And hear things like “We are running tests for ALL genetic disorders, Rett Syndrome would be the WORST POSSIBLE CASE” or “We suspect Rett Syndrome but do not look it up online, it is bad, very bad.”
So the blood tests are run and we wait. 2 weeks, 4 weeks, 6 weeks – sometimes longer.
Then often times – the news is delivered via a phone call (which was my personal experience) or better yet, a letter. There are SOME doctors that prefer to have the family into the office, which you would think would be the best way to receive the news, only to have them use SUPER encouraging words like this:
*We are sorry. Turns out it WAS the worse case scenario, the test is positive for Rett Syndrome.
*There is nothing you can do really, just take her home and keep her happy.
or the absolute WORSE: *You need to start making arrangements for her funeral, let us know if we can help. <yes, a mother actually had a doctor say this to her>
Are you kidding me? Start planning her funeral? There is NOTHING you can do? Hey doc – we are terrified here. We anxiously and fearfully to go into our little girl’s room each morning because we do not know what skill she is going to lose next. We endure scream filled, teary filled nights (and sometimes those tears are coming from our daughter and sometimes they are coming from me) We have been waiting weeks for some answers and THIS is what you can tell us about Rett?!?
Fast forward six years….
My daughter is 8 years old. Yes, she is in a wheelchair and has a feeding tube and battles seizures BUT she is also in the third grade with her typical peers, she is reading, doing math, learning about science and history. She goes horseback riding every Monday night. She loves to shop and go to movies. And can I mention that she is popular? I mean it – she has friends that love her and genuinely enjoy spending time with my cool little girl. I was recently at a wedding reception and spent about 20 minutes with my daughter – because she was having too much fun with her friends to hang with mom….and I loved every minute I was being ignored. Oh, and She just received a Tobii – which is a computer that she will be able to control with her eyes. Yep….our days of silence are coming to an end and I can’t wait! Watch out world – she has so much to say.
Why cant doctors share that?
I tell myself that it is because they do not know. So as a parent, I try to share my story with other parents (and anyone else that will listen) and I hope that in the very near future all doctors will know about Rett Syndrome and about how smart our girls are. How amazing our girls are. How incredibly cool our girls are. And you know what? Treatments (and our cure) are coming. There is HOPE for each and every girl who is receiving a Rett Syndrome diagnosis right now.
Is it devastating news to hear? Yes! Do I hate Rett Syndrome? Yes – with every fiber of my being. But it doesn’t end there. My hope is that no family ever allows a doctor to make them feel that way.
I just wanted to have a quick convo here because in the last few days I’ve had 2 Moms who’ve been told that their child is regressing again.
We have no way to scientifically measure regression, or even say someone is definitely in regression. It is an observational diagnosis. Which means it can be wrong. The very last thing in a long list of possibilities is regression.
If your child is feeling poor, or in an anxious period, if they are feeling under pressure, they might just chill at the baseline. What I mean by chilling at the baseline, is she just doesn’t want the performance pressure of doing anything. Too much hard work, taking a time out.
This is not something that is solely applicable to Rett syndrome, every person in the world goes through these periods.
When someone chills at the baseline for an extended period, their learned skills can be temporarily lost. That is also natural, it is called “learned non use”, essentially it means she might have to relearn some of the skills, but because of something called “motor memory”, it’s much, much easier.
Think of learning to walk like it’s a pathway.
The more you use it, the more worn that pathway becomes, the easier it becomes. Eventually over time, you have memorised every bit of that path. Then the snows come, the path gets covered, a long time passes before you go back to the path again.
The path still exists, but it’s now overgrown with bushes and underbrush, but you still remember where you are going. For the first few times, that path is hard work again, but before long it is battered back into shape.
The natural History Study run by Rettsyndrome.org has proven that people with Rett syndrome NEVER STOP LEARNING NEW SKILLS. (sorry I feel like I have to bold that)
My message is simple.
I feel Rett syndrome is so full of easy excuses for people responsible for diagnosis.
Rett is a blanket of symptoms for people, even when the symptoms that are being exhibited are clearly not Rett related.
How many times have you heard Rett blamed for everything?
Which means we, as a family, need to be sure to go through all the possibilities we can first.
Much love to you Mums going through this s**t, again. Let’s beat down that path and prove them wrong 😉
Let me just add there are some fantastic Doctors/Health Professionals out there that are adored by the Rett community. They are adored because they don’t blame Rett for everything.
I’m happy to say Lucie is walking again, this not only shows the indomitable spirit of Lucie, but it also shows that we cannot just tuck a diagnosis in the Regression blanket and expect it to be enough.
People living with Rett syndrome are fighters, they are born fighting.
Believe in them, fight with them, be their army of constant encouragement.
I’ve started this post so many times, but I always come back to the same thing.
You can only be described as exceptional when you spend every second of every day proving every one wrong.
That is what these wonder women have been doing for at least 21 years (in one case 58 years).
I can’t tell you what it has meant for them; I no longer dare to think I can understand what goes through the minds of people afflicted by Rett syndrome. My hope is that one day they will tell you themselves.
But why do I have this hope?
My journey can only be described as a journey of enlightenment.
50 years ago, in 1966, Andreas Rett first published the first description of Rett syndrome. It only was generally recognised in 1983, when a second article was published by Swedish researcher Dr. Bengt Hagberg.
It means that Sherry (58 years old) had already been living with an undiagnosed disorder for 8 years, Nola for 2 and Kristi was 1 the year Rett was officially identified.
These girls (and their parents) were given an incredibly bleak life expectancy, but this is a story of hope, one where we prove the world wrong. That is exactly what these women proceeded to do, to reset our understanding of Rett syndrome.
In 1999 MECP2, the causative gene responsible for Rett syndrome, was discovered by Huda Zoghbi and her team. Which means all of these women have had Rett syndrome longer than we have known the cause of it.
Every single one of these women has lived through discovery that it could be reversed. This was proven by Sir Adrian Bird in 2007.
These facts are huge, because it means that all of them were alive when we didn’t know what caused it or had an inkling of how to cure it. Yet they, and their families (there is no amount of acknowledgement I can provide here, these families are amazing) persevered and fought through it all.
Our discoveries about Rett syndrome have increased massively; currently there are more than 10 drugs in testing (some in final stages), which will help alleviate many of the symptoms in Rett syndrome.
In the last few years, we have made technological breakthroughs, which have enabled people with Rett syndrome around the world to start communicating unassisted. Devices like this are giving us a window into Rett, which was previously unaccessible.
That window is proving something else to us. Once again they are smashing the preconceptions around the ability and intelligence of people who suffer from the disorder.
These women are smarter than we ever guessed and more able than we have given them credit for.
At the heart of these discoveries are the women and families (who without the help of social media) managed to overcome the most incredible obstacles, and be fitting examples of what happens when you don’t presume some form of competence. The people who founded the charities, the lifelines, the social groups, which have made our journeys easier.
Yes, what we know has changed, it has changed enormously. It has changed because of these people. Rett syndrome is a better diagnosis today than it was 50 years ago because of these people.
These women who have changed the world, by beating it, every second of every day. If that is not a story of hope, then I don’t know any.
Christopher Reeve said
“I think a hero is an ordinary individual who finds the strength to persevere and endure in spite of overwhelming obstacles.”
Whilst this quote is true for the families who spend countless hours at appointments, in hospitals, at therapy, fighting insurance companies and institutions, raising money to fix it and raising awareness to fight it, it’s not true for the people afflicted by it: my every day heroes. Because it takes something exceptional to fight every second, of every day, for a lifetime. They give me hope.
However, nothing about Rett syndrome is ordinary and these are no ordinary girls.
This Album and poster(Which can be found here) currently has 107 women (A couple of young ladies are on the verge of 21, so I’ve included them).
In October we called our awareness campaign the HOPE campaign, because we wanted to talk about the things that we are hopeful about. We wanted to talk about how all those little things are slowly coming together, helping us progress, and how every day we are beating Rett syndrome a little bit at a time.
If last year was the year of hope, then my hope for 2016 is that it’s the year of progress. No matter how small the steps we make, my New Year’s wish is that we keep looking forward.
I don’t just mean in a research sense, I mean in every sense. Keep your minds open to possibility that extends opportunities to children with Rett syndrome.
The first most obvious possibility has been the eye gaze tech; it’s truly cracked open the world of Rett syndrome for the people that have been affected by it.
So how do I see progression in the eye gaze field?
Getting the eye gaze is only the first step in this journey; it’s a much bigger task to learn how to use it and to teach your child to use it.
It’s pretty much a full time job. But there is opportunity in this space, with organisations like rettuniversity.org trying to crack open the possibility for parents to learn “Rett syndrome specific” techniques to help their children.
As a community we can build the hive of knowledge we need to extend these opportunities to all families with Rett syndrome, not just the ones lucky enough to attend one of the brilliant courses from Susan Norwell.
I hope we continue to make strides in pioneering Neurohabilitation and Physiotherapy fields, using techniques like Feldenkrais and Cuevas Medek Exercises (CME), as well as being supported by amazing new tech devices which are helping to reset neurology.
My hope is that we start to find new ways to access money to help us with research from beyond the family network, like the Rett Syndrome Funding in the Department of Defense’s 2016 Appropriations Bills achieved by rettsyndrome.org
I hope that we continue to look forward as a community, but also that we remember the people that have helped us achieve remarkable changes and progress in Rett syndrome.
I was speaking to some of the mothers of the older girls; most of them were told their daughters would not live to see adulthood, but that has changed too. These are the pioneer families that funded the building blocks of progress that we live with now. Our understanding of Rett syndrome has changed significantly because of these people and not just the doctors and scientists who have studied Rett.
Every year we are trialling more drugs, with more positive results; we are constantly learning more about Rett syndrome, and slowly we are turning that knowledge into a power to fight Rett.
I asked in November for images of girls (and boys) with Rett looking into the camera. Such a simple thing for most people, but almost impossible for people who suffer from the disorder. I asked for those pictures because I know that sometimes, looking forwards is the hardest thing you can do, and who better to show you how hard?
Progress happens by learning from the past, whilst looking to the future.
Trish and I discussed the #realliferett campaign for some time, even after she had finished the blog post she was worried that it might be too raw, too emotional. What she has done is incredibly honest and brave.
I think most parents dealing with Rett syndrome are brave, but society doesn’t like them to be honest.
This is what Rett syndrome in a society that chases perfection does. It elevates the pressure on a family by making you think you have to answer some perfect expectation.
People say you were chosen because you are strong, but that’s not true, you are strong because you were chosen.
We often talk about “being strong”, but the truth is that for many parents, especially the newly diagnosed, they are not strong, they are holding it together on the surface, but underneath they are crumbling.
This is the most vulnerable a person will ever be in their life. There’s no manual for this, no one prepares you for it, because society hides it away behind our veneer of perfection.
Parents need their families and friends more than ever at these times.
#realliferett is a window into those moments of solitude, where Rett tears into your life.
The most powerful campaign that Army of Us has ever run was the “Story of my life”; it was a tough campaign and ran contrary to everything we normally do. The campaign shared the things that Rett syndrome does and how it ravages those people who are affected by it.
I took great care in separating the disorder from the girl (or boy), but that campaign hurt in a way no campaign has since. For many parents it was an opportunity to explain the face of Rett syndrome that we don’t share.
#realliferett was born in a moment of deep frustration, a ‘screw you all, this is what I have to deal with’ kind of moment in the midst of yet another hurdle in the life that is Rett Syndrome.
I was lying next to Lily in her ‘sick bed’ that we set up in our bedroom for times such as this one, when Lily is unwell and we need to have her close, to hear her breathe, to comfort her, to make sure she gets through the night.
It was late afternoon and still in my pajamas, hair unwashed, black circles under my eyes, Lily crying in her bed beside me, I began scrolling through Facebook and Instagram to escape for a moment, see what the other half are doing. Every photo depicted a friend living a carefree, healthy, happy and footloose existence. I felt so alone in that room, in that moment.
It got me thinking. Why, as a community, do we feel the need to portray our lives as though they were perfect and without flaw? Why do I, more importantly? Why am I sparing my friends from the reality that is Rett Syndrome?
The answers are deep and probably universal for most of us as a general rule, but for me as a Rett parent, they are deeply ingrained in my psyche and they are things that are confronting and controversial to talk about, even to others in the same position.
That in itself is unusual because we have this amazing kinship as Rett parents. We get each other. We can talk about almost anything with the assurance that someone else, somewhere in the social media world of Rett Syndrome, will have the same question or the same thoughts.
But the things we don’t talk about to anyone, not even to each other are the feelings of shame and guilt associated with having a disabled child. Sometimes we feel brave enough to let down our guard and express our anger and resentment, but shame and guilt are taboo feelings in anyone’s world.
The guilt is probably easy to explain. It’s just very, very difficult to talk about. It’s a painful and raw place I don’t like to go to often. But the shame, for me, stems from a fear of being judged or my daughter being judged.
Sometimes, it is more than I can bear.
Call it ego if you will, unfortunately I do have a big one in spite of trying very hard to channel the principles of Eckhart Tolle, but mostly it comes from the despicable way in which our culture has come to treat people with disability as second class citizens. As less than, as somehow, having missed out on something the rest us were blessed with.
The judgement placed on not only people with disability, but the stigmatism attached to being a parent or a carer of child with disability is a hard mould to break.
It’s something that as a community, us Rett parents are trying very hard to break. We want the world to see how exceptionally beautiful our children are inside and out. We refuse to have our children be seen as one of those people you don’t want your typical child to stare at because they look different or because they dribble, or scream at the most inappropriate times, or because they make funny noises, or they invade your personal space and make you feel uncomfortable or they eat with their mouth open and spill their food all over themselves, or they fart and burp or even relieve themselves as they need to.
Society doesn’t want to ‘see’ that. Society wants everyone to be perfect and so, that is what we give them.
October is Rett Syndrome awareness month and it is a time when Rett Syndrome parents feel they can freely express their frustrations and challenges without being too much of a downer to all our friends and family, but the truth is, this is a bloody tough life this Rett life. Don’t get me wrong, I consider myself blessed and the luckiest mother in the world to have my precious girl. But it’s tough, both emotionally and physically.
The hashtag #realliferett gives us permission to be real anytime of the year, not just for October. To dispel the belief that we do this job with ease, that we were born for it. It allows us to give a real and true account of the confronting things that our daughters have to live with and what we as parents are challenged with every single day.
Being ‘real’ can be our contribution to dispelling the myths and relieving the discrimination somewhat. After all, each and every one of us is only a ‘moment gone wrong’ away from having a disabled child or being disabled ourselves.
Let’s be real and embrace all human beings. Let’s show the world not only the good, but the bad and the ugly as well!
We’ve created a set of Profilomatic frames for #realliferett, you can find them here.
It’s leading up to our second year of supporting Awareness Month as Army of Us and we’ve decided to do things a little a differently.
For many families who live with Rett syndrome, Awareness Month is an exhausting month-long reminder. A constant barrage of facts and statistics roll up your wall, as we all share images and stories about Rett syndrome, desperately trying to create awareness.
October has always been a tough month, tough to prepare for and tough to manage, with so much expectation and added responsibility for families; putting this kind of added pressure on you is just not what Army of Us is about.
This is where the idea of the Hope campaign comes from; we want to spread a positive message during October (to families and their networks of friends) that we have a lot to be hopeful for. This has been an incredibly successful year for advances in Rett syndrome and we believe things will only get better.
Rett takes so many things but we also have so much to be hopeful and grateful for.
We have known about the cause of the condition, and known about the potential reversibility for some time now, but that shouldn’t mean we stand still whilst we wait for a cure.
The past year has shown us personally and as a community why we can be hopeful and positive today.
Research discoveries about the mechanisms of long genes, and the progress with x-inactivation means potential treatments may be closer.
The orphan drug approval and results around Trofinitide mean we may be able to improve some symptoms now while we wait for a genetic fix.
These discoveries and other drugs in trial, like Copaxone and Ketamine, will help keep our loved ones affected by Rett stronger and healthier, aiding them to learn more skills and gain abilities right now.
The lower prices and greater acceptance of eye gaze and things like the Steve Gleason act in the USA are also very important breakthroughs. Eye gaze devices are changing the way people treat our girls (and boys), as we discover new ways to break down that communication barrier for Rett syndrome.
With all of this in mind, we’ve built a whole bunch of goodies that will help make your Awareness Month easier; we have redesigned our traditional “Rett fact cards”, which can be printed out and handed out at school. The Rett fact cards will be connected to our what is Rett syndrome blog.
We’ve also created a new group of cards; we call them “hope cards” and we hope you’re going to want to share them as much as we do.
Our hope cards contain the information that has brought us hope over the last year (and a bit longer), in a simple sharable format. Something we can share with our family and friends to say, hey, look what’s changing, we are beating this thing.
We have redesigned the posters and have added all the new girls, and we will keep adding more girls (and boys) through awareness month. So keep your eye out for them early next week.
The pictures we have been collecting for the last few months are filling the Army of Hope album and they have a very special purpose.
If your daughter (or son) is included in this album, please make sure you go to the album and “tag” her name in. It’s easy, click on her photo and click tag, then type her name, then leave a special message for her in the comments. Something as simple as I love you, or a few lines of your favourite poem.
If they’re not represented, please send us a picture so we can include them.
We promise you it will be worth it when October starts 😉
We’ve started a week early so you can use the stuff we make and be prepared for any of your Awareness month needs. Like printing our fact cards and posters for school or class to explain Rett syndrome. We want to make October easier for you, and we feel giving you access to our goodies a little earlier will do exactly that.
Profilomatic has been totally rebuilt and now works on mobile devices 🙂 You can upload your favourite picture from your phone, apply an Awareness Month frame, then share.
More hope or fact cards
If there are other hope cards (or fact cards) that you would like to see made (or translated) please give us a shout (email@example.com) and we will do our best to make it happen.
As well as our HOPE campaign we will be supporting other campaigns from our friends too; there will be a host of profilomatic campaigns like the #realiferett for #rettober campaign in Australia and #nomoreemptyarms here in the UK.
In August, my daughter turned three and it marked one year since she has been using a communication device, namely the Tobii. Today I was watching her and thinking about how far she’s come and also how far she has to go. It also got me thinking about how many gains she’s made in other types of communication.
When her diagnosis was confirmed, I remember feeling completely overwhelmed by the work I knew was ahead of me. I had wished that there was a manual telling me step by step what to do. Sadly there is no ‘How to Teach Your Daughter with Rett Syndrome to Communicate” book. However, after one year of piecing together opinions and advice from other parents, teachers, slps, cdas, communication experts, and from my own experience and intuition as a parent and teacher, I thought I’d pay it forward for the newly diagnosed parents out there wondering where to start.
Note: this blog post is simply a summary of what we’ve done- take it or leave it! I make NO claims that what we are doing is the ‘right’ way to do things- in fact, I often second guess myself and lose sleep wondering if I should be doing things differently, or if there is some other magical method out there to ensure she communicates effectively and will guarantee that she is fully literate later in life. Because, above all else, that is my number one goal for Ava- if she can read and write (and learn to use the Tobii proficiently), she will be able to communicate with no barriers. My friend Jo is proof positive that IT IS POSSIBLE. It’s up to us to figure out how to make that happen.
So. Here it goes…Learning to communicate with Rett Syndrome: what we did during the first year…
Engagement and interaction:
Engagement and interaction is key to any communication and a good starting point. And while this was officially a goal for Ava, the real work here happened on my end. When Ava was going through her regression, I went through a sort of regression of my own. Call it depression, sadness, despair… it affected MY ability to engage and interact with Ava. She checked out and in some ways, so did I. I learned quickly that I needed to get over myself. Engagement and interaction go both ways and they are largely reciprocal. We had to find what interested her (which in itself was a difficult task) and use that as a starting point.
This was particularly challenging as we began this work (unbeknownst to us) during the regression phase. I do think that developing her engagement in the world around her was key and allowed her to be open to learning the other methods of communication. We kept at it but also read her cues. It was important to push her to interact with us, but not push too hard that it would turn her off.
Goals: Making and maintaining eye contact, noticing and acknowledging new people entering the room, participating in an activity or conversation by actively looking.
Tools/Method: Highly animated voice and facial expressions, facial proximity and vocal volume during conversations and salutations, and highly motivating activities like bubble blowing.
Example: Ava responded quite well to bubbles. We would use the bubbles as a way to solicit eye contact. Using an animated voice and facial expressions we would say: “Ok- I’m going to blow the bubbles. 1, 2, 3, Blow!” We would do that several times. Then we would do the same script but take an audible breath and pause before the word “blow” and wait a few beats to see if she would look up.
As soon as she did (even if only for a split second), we would blow the bubble. She learned that the quicker she looked, the quicker she would get the bubbles. Again- this activity was done during her regression phase when she was 1.5 years old and we had no diagnosis. I’m sure there are people who would disagree with this method, but I really think it helped Ava relearn her social skills (and got her to smile and giggle again!)
Eye Pointing and Choice Making
Before I get jumped on, let me be clear about choice making! I do not think choice making should be the only mode of communication available to anyone. Period. However, it was particularly helpful in helping Ava understand that there was power in communicating (especially when she was under 2 years old), and frankly, it was helpful to know what she wanted!
I look at choice making as part of communicating. With my older, typically developing daughter, I give her choices all the time. Do you want strawberry jam or apricot jam? Go to the park or go for a bike ride. Choices happen all the time, and they are an important part of communicating.
Goals: make decisions for foods and activities.
Tools/Method: laminated pictures (we used actual photographs at first) of a variety of foods (fruits were a big motivator), activities including swing, stroller, toys and TV shows. At first, we took looking at the card as her indication, then moved on to looking at the card then at us for confirmation. This was a bit of a hit or miss so we transitioned to aural choices using non-verbal yes (see below).
Non-Verbal Yes/No (and low tech communication)
Developing Ava’s Yes/No response has been the single most useful communication tool this year. There are many different schools of thought on the method of achieving the ‘yes’ and I’d encourage everyone to read all of the information out there. Developing a clear yes makes things easier and opens up new possibilities for communication.
Many types of low tech communication programs depend on having a yes/no in order to implement partner assisted scanning (basically someone reads off categories/vocabulary, and the person indicates which word they would like to say by giving a yes response when they hear the one they want to say). Some types include Flipbooks (for communication, literacy/writing), customized vocabulary books/binders, and the PODD system.
Goals: consistently indicate a clear yes response. Lack of yes response= No
Tools/Method: Identify the natural yes (for us it was looking at the speaker), verbal prompt (“remember to look at me to say yes”), verbal affirmations (“good looking at me to say yes”), reinforcement and practice by playing games, and throughout everyday activities. An assortment of partner assisted scan low tech books for a variety of purposes (communication, storytelling, ABC flipbook…)
Example: Here is a video that shows the non-verbal yes (and no), basic partner assisted scanning, and the ABC flipbook (a.k.a. an alternative pencil, although in this case she is not using it for spelling but to select which letter video she wants to do next)
So off the bat, I will once again say that there are a variety of devices and programs available and the following is simply what we did.
My husband and I attended the RSO conference in Washington for the main purpose of learning about eyegaze communication. I signed up even before we had a diagnosis because I figured even if it wasn’t Rett, eyegaze was going to be a key player in her communication.
Listening to Judy LaRiviere and Susan Norwell was enlightening, especially in light of all of the literature I had read claiming girls with Rett had severe cognitive impairment. I saw videos of girls not just communicating but reading and spelling!
This got my teacher wheels spinning, and in some ways helped me cope with the grief of the diagnosis we had received two weeks prior. We purchased a Tobii Eyego for her second birthday without having trialed anything because it seemed that the majority of support available online (from other parents and from some of the communication experts) for Rett Syndrome were for Tobii devices.
We went this route because it was clear that getting a device at Ava’s age in Ontario was not a common occurrence (although the system is hopefully starting to improve). This was a bit of a reckless gamble on our part but we were lucky that Ava was able to use the Eyego.
I reached out to Susan Norwell and set up a trip to visit her in Chicago. She helped us set up the Eyego with my dad’s old laptop (using the free trial software of Communicator, Sono Primo, and Sono Flex) available on the Tobii website, and had some conversations with Ava (!!!) and away we went. One reason we follow Susan’s methods (aside from her extensive experience) is because of her unwavering belief in the abilities of girls with Rett. No matter who you choose to work with or what method you follow, find someone and/or be someone who believes in your daughter.
Some general comments here- it takes time and patience. It is a lot of work and sometimes I want to bang my head against a wall in frustration. I have to constantly remind myself of her age, and that just because she has access to hundreds of words, does not mean she is going to immediately start using all of them accurately.
Kate Ahern, another communication guru, often likens it to the way a baby learns to talk. We don’t stop talking to a baby because they don’t answer back. It takes time and lots of modeling.
Goals: to access and make selections on the screen, to understand that her eyegaze is controlling the screen, find an appropriate dwell time range, play independently, enjoy Tobii time, communicate with some consistency, use core words, and begin to make word combinations.
Tools: Tobii PCEyeGo (at first), Tobii i12, Sono Primo, SonoFlex, literacy videos, engaging activities, support from professionals and parents on various FB groups.
Note: If you have an i12, SonoPrimo and SonoFlex are already installed IN your device. Go to ‘readymades’ and you will find them under the Symbols tab.
Methods: We started Ava with a grid of 16 words using the Vocabulary pages in SonoPrimo. We gradually moved onto the 32 page vocab once it became clear she understood the concept. We used motivating activities and honoured every word she selected. For instance if we were playing with bubbles and she selected ‘big’, we blew big bubbles while constantly modeling.
If we were eating dinner and she said “drink”, we shoved the drink in her mouth so that she understood that when she selected a button, she was communicating. She caught on very quickly using this method.
Here is some early video of Ava using SonoPrimo after 1 month of using her Tobii:
SonoPrimo is fun because it has games and correlating vocabulary pages. We found (and still find!) that Ava does better doing the actual game in real life and interacting by having the vocab/context page open so she can communicate while the activity is happening- great for reinforcing the meaning of words and introducing new vocabulary. A great activity (you’ll notice a theme here!) is bubble blowing using the vocabulary 16 or 32 page.
When we transitioned over to SonoFlex, the program she now uses most of the time, it was overwhelming for Ava and for me. The difference between the two programs is that one is a ‘robust language system’ giving her access to all of her vocabulary (SonoFlex) vs theme-based which gives her access to some core words and theme vocab all on one page.
Though we do use SonoPrimo sometimes, the disadvantage is clear when she wants to change the subject or if what she really wants to say is not on the page. With the bubbles for instance, in SonoPrimo she can say lots of bubbles related vocabulary, but if she wants to ask for a drink or if I’m talking too loudly and she wants me to be quiet, she has no way of communicating that. Let me be clear though- SonoPrimo has its place. I loved SonoPrimo and there are days I wish we could just use that. SonoFlex is HARD and Ava is only 3. But she’s learning…
Model, model, model, and then….model some more.
There are some days I’m pretty sure I use the Tobii more than Ava, but the way I look at it, she’s not going to figure out how to use it if she doesn’t see others (including her family members) use it. At first it was daunting. I didn’t use the program for the first few months because I couldn’t figure out where anything was! The thing that helped me the most in that department was to take books and try to read them ONLY using SonoFlex.
I also had an imaginary conversation with myself one evening after everyone had gone to bed (and yes, there was wine involved!). Not only did this give me an idea of where everything was, but it also showed me how limited the program is. So if Ava doesn’t make perfect sentences, who can blame her?
A lot of people use the Pati (King-DeBaun)/Judy (LaRiviere) pages which are phrase based, meaning she doesn’t need to put words together- just select the phrase she wants to say. A lot of girls have success using them. I’m going to admit I’m not the greatest with exposing her to and modeling these pages- but it is on my list of goals this year. Because as Susan once told me, sometimes a kid wants to shout something quickly and navigating two buttons per word to create a sentence just won’t cut it. There- I wrote it down, so hopefully this will make me use it more.
The few times she has used it, she has used it well (I remember when one of her slps came over and was wondering if she would be able to navigate from program to program, Ava got out of SonoFlex, opened the P/J pages, requested a drink then promptly looked at the fridge!) The nice thing about these pages is that the pictures are pretty self-explanatory and the meaning, for the most part, is easily understood just by looking. I wish the Sono vocabularies would use those images instead of the Symbolstix.
When Ava started putting words together, we celebrated (and re-modelled some more!) everything she said, even if it didn’t make a whole lot of sense. ‘Presume Competence’ is a phrase that is tossed around quite a bit, especially by me! What does it mean practically speaking? If she selects a word or puts several words together, I assume she did it on purpose and that there was meaning attached to it.
I talk about her selection, remodel what she said, then muse out loud what it could mean. Sometimes she gets her message across and sometimes she doesn’t. Sometimes she wants to say things and other times she wants to explore, and sometimes it’s hard to differentiate which ‘mode’ she’s in. However, I don’t ever doubt that she’s learning and paying attention.
Here is an example of presuming competence. At the beginning of this video, I wasn’t paying too much attention, I admit, and was just kind of throwing ideas out there. Then this happened… Presume Competence.
Side note: We take a lot of videos of Ava using her Tobii not only to show our friends and family how well she’s doing but to document her progress once she starts school. Apraxia is a tricky thing and she doesn’t always want to perform, especially if she’s feeling pressured. I’m a skeptical person by nature, so seeing is believing and I want to ensure that everyone she is exposed to in the education system believes that she is smart and has lots to say.
This one is probably the most important thing. We read with Ava all the time and while she loves books, this wasn’t always the case. There was a long time where I doubted Ava was even listening to me (let alone looking) while reading books. We kept on reading, made sure we gave her lots of funny stories, and used our best acting skills to make the books exciting. She loves story time now. We do a lot of work with letters by showing her various videos and playing games with letters and letter sounds. This is a developing skill and we are trying to go about it the same way we did with our older daughter.
I can confidently say that she knows her ABCs and is starting to learn to identify beginning letter sounds. I am desperate for her to be fully literate as not only will it have a direct impact on her communication skills, it will also improve her quality of life and allow her to learn and study along with her peers. I can’t possibly write down everything we’ve done here, but one thing I found incredibly helpful was the Emergent Literacy course through Rett University.
Here is a video of Ava using her Tobii to comment while we read one of her favourite books:
A Final Note
This year of learning to communicate has been tough but also very rewarding. I want to also make clear that I haven’t been able to do all this alone- I have a lot of support from my family and some amazing therapists we have met along the way. There have been days (and there will continue to be days) where I doubt I can rise to this enormous challenge of teaching Ava to communicate and wonder how she will possibly be able to be fully communicative given all of the challenges that go along with Rett Syndrome.
I read and hear people talking about all girls with Rett being severely cognitively impaired, how they think the girls are not capable of communicating and it’s tough to keep on going, especially if we’re having a bad day. However, when I look at Ava and watch back some of her videos (another perk of documenting) I can see the progress she’s made. I can see how smart she is. And I know I owe it to her to try my best to ensure she reaches her full potential.
I would love to hear more about what other parents are doing to get their daughters communicating! Please leave a comment below or consider writing a guest blog post for Army of Us!
Useful vocabulary to learn:
AAC: Augmentative and Alternative Communication PAS: Partner Assisted Scan Core Words: High frequency words that are applicable to all topics. Eye Pointing: Looking with intent Eye Gaze Device: Computer that is controlled via the user’s eyes (the eye acts as a computer mouse) Dwell: The amount of time the eye needs to pause in order to make a selection Robust Language System: provides access to core words and a large variety of ‘fringe’ or theme words, and allows the user to create grammatically correct sentences Phrase-based: selections are phrases rather than individual words PODD: Pragmatic Organization Dynamic Display Modeling: Going through the motion, showing SLP: Speech Language Pathologist CDA: Communication Disorders Assistant Alternative Pencil: Providing a way to write not using a pencil (making selections in an abc flipbook, using an eyegaze keyboard…)
Technically, because Rett syndrome affects fewer than 1 in 2000 it is listed as a rare disease.
I’ve been making collages of people affected by Rett syndrome and although I have a load of girls (and boys) in these collages, it’s not even a micro-speck of the real numbers of people affected by Rett syndrome.
It’s important to me to [em]separate the girl from Rett syndrome[/em] but also to show that Rett syndrome affects so many people.
She is a unique and amazing individual, she doesn’t need a disease to define her as rare.
We often talk about Rett syndrome being a rare disease, but what does rare mean?
We have two stories we tell, we tell our friends and family what Rett syndrome is and how it affects our child, the child they know and love and have exposure to. Through social networks me meet and see other children, but for many, bar parents, contact remains limited.
The other story is getting people to understand that thousands, worldwide, are affected by this disorder.
Rett syndrome is bigger than people think and I think we do damage to our need by calling it rare.
By saying this thing is rare, we create the impressions that there are other more “common” things that need to be addressed before Rett syndrome. It’s how, as humans, we try to prioritise. If something affects more people, we “prioritise” and say lets go sort this more common occurrence out first.
Applying the rare label to Rett syndrome creates a priority in the minds of people who have no connection to Rett syndrome. I’m not calling them cold, I’m not calling them callous. Their priorities are built on the perception of need.
We need to find another way to prioritise their thought process, of how we can move a “rare” disease up the chain of priority.
We are making some headway in this regard with things like the Defense Appropriations Bill which will potentially have a huge impact on our Rett syndrome studies in future. The strength of funding will bring more doctors and researchers to the field of traumatic brain injury. I would love to see more effort made in aligning ourselves with studies like this.
Let’s talk about rare.
Let’s break Rett syndrome down, Rett syndrome is considered rare, when 17 children every day are born with it. Figures now estimate that 1 in 10 000 people are affected by Rett syndrome. I’ve extrapolated this before in my Rare Disease Day posts, but based on the statistics there could be around 700 000 people in the world that are affected by Rett syndrome.
You might think that’s small according to population statistics (I don’t think 700 000 people should be classified as rare), but let’s consider what makes up Rett syndrome. Among other symptoms, Rett syndrome includes :
Loss of speech (not rare)
Loss of motor control (not rare)
Scoliosis and fragile bones (not rare)
Seizures – including Rett episodes (not rare)
Compulsive hand movement (not rare)
Irregular breathing (not rare)
Apraxia or Dyspraxia (not rare)
Extreme anxiety (not rare)
Gastrointestinal issues (not rare)
Impaired circulatory and cardiac function (not rare)
Parkinsonian tremors (not rare)
Do you see what I’m getting at?
While Rett is considered a rare disorder, the symptoms of Rett are most definitely not.
1 in 26 people have epilepsy
3 in 100 have scoliosis
6.3 million people have Parkinson’s
I can’t even begin to get the numbers of gastro issues and irregular breathing.
That means that hope for Rett syndrome does not only come from our field of research, it comes from others too. While our scientists tackle a “cure” and also try to treat other symptoms, other areas of research will and are having an impact on Rett syndrome. Just as Rett syndrome will have an impact on other disorders and treatments.
8 years ago (in 2007) Sir Adrian Bird reversed Rett syndrome in the Lab. 16 years ago (in 1999) Huda Zoghbi discovered the gene responsible for Rett syndrome.
As a community we need to be smart, we need to be collective, working together towards the only meaningful goal, and that is progress.
With all this in mind, I’ve been working posters that people can use to explain Rett syndrome. They will be available for sharing on Facebook, but I’ve also been making sure they are available for you to download and take to your favourite printer.
I will make sure there is a version that has space for you to add your own information, to raise for your daughters needs, or your favourite charity. The choice is yours.
I will link the big download poster once I am totally sure I have no duplicated pictures and also once I’m happy that I have all the girls (and boys) included.
Please message me if I you sent me a picture and I haven’t included it.
Also, I can make more posters, so if you never saw the initial request and you want your daughter to be included. Send me her picture for followup posters.
Neuro-habilitation is a young field; its roots are found in the Neuroplasticity. We are constantly discovering more neuroplastic programmes that are having an effect on Traumatic Brain Injuries and also possibly on Neurodevelopment Disorders like Rett syndrome.
There are habilitation and rehabilitation programmes that will have an effect right now and in future.
Two techniques spring to mind, Feldenkrais and CME, both of which are used to reset neurology in patients, both of which have shown some incredible results in the field of Neuro-habilitation.
I’m going to blog about both of these in the next few weeks, as well as the importance of PT.
The eye gaze device has given girls with Rett syndrome a voice that they can control.
They get to intentionally choose what they want to say; it’s not interpreted by a parent or a carer.
Some girls with Rett syndrome have always been able to communicate, but it’s rare. Rett syndrome blocks so many communication avenues that it makes it practically impossible.
For the first time in Rett syndrome the playing field is being levelled. The eye gaze device is allowing more girls to access a voice, something that has long been denied to the vast majority of girls.
Getting your mind around the eye gaze device is hard.
The hard part is understanding what needs to be done to help your child communicate, and building the screens to do it. There are also time commitments and the stubborn need to stick to routine.
Yeah, you know this…so what’s the point?
I think the most important thing when I talk to families about Rett syndrome is honesty.
Honesty is very often lacking in our discourse in this community, not intentionally, often because the truth hurts and nobody likes to pile hurt on.
Although sometimes we might be too honest, but that’s another story.
So let’s talk about this.
My advice (which will be controversial)
Raise for an eye gaze device before anything else
Raise more than the cost of the device.
You are the gate keeper.
Don’t stop at low tech
Eye gaze device first
The first thing you should raise money for when you get a diagnosis of Rett syndrome is an eye gaze device.
It is one of the most expensive things you will be raising for.
For many people the first time you raise money will be the most you ever raise, by a considerable amount, if you give that money away to another cause (however worthy) you’re going to struggle for a long time to raise that amount again.
Don’t get suckered into distant promises, attend her needs now.
It’s more than just hardware.
When you get it, you will need to learn how to use it.
Make sure you add money to your raise amount which will cover local conferences and/or access SLT’s or organisations that can support you. There are also online courses that are designed to help you. Don’t be shy to do this. Otherwise your brand new eye gaze device is just an expensive paper weight that will generate a ton of guilt.
When someone tells you she is too young, she has to prove competence, blah blah blah, tell them get stuffed.
That’s like saying don’t buy your child books until they can prove they can read.
Quite frankly it’s bullshit. Don’t let people stand in your way to giving your child a better quality of life.
There is no such thing as too young.
Yes girls regress in Rett syndrome, but childhood is also the most vital stage of learning for children. Whilst she might be going through regression, or just have gone through regression, her brain is in a chemical state of hyper learning.
Don’t lose this vital opportunity to take advantage of those chemicals. You need to burn pathways in her brain and this is the best time to do it.
Treat the eye gaze device like you would learning a new language, the earlier you start the better.
That said, it’s proven that girls with Rett syndrome never stop learning. She is never too old to access these devices. The older girls already understand, so they’re going to pick it up faster than learning a new language.
You are the gate keeper.
The eye gaze device is not easy, it’s as big a learning curve for you as it is for her. You are going to have to invest time and make a commitment to training yourself.
Not just in how an eye gaze device works, but what are the best methods to use it. Then once you are trained, you are going to have to FORCE it into your routine.
You are the gate keeper to her potential.
I realise that a lot of parents have to live with the guilt of feeling like they have to be a super person, and I’m truly sorry that you are in this position. I get it, it’s hard. It’s turned your life upside down.
Some people are going to have a go at me about how difficult this is and how I don’t know what it’s like to live with the torments of Rett syndrome on a daily basis.
You’re right, I don’t, I have no idea what it’s like.
It’s easy for me to say that the changes you make now will make a fundamental difference to your life in future and more importantly hers.
Ultimately the responsibility for this decision lies with you, because you are the gate keeper. You choose whether to open the gates or not.
Don’t stop at low tech.
Low tech is incredibly useful to establish things like a clear “yes” response; it doesn’t run out batteries; it doesn’t explode when it gets wet. But low tech is also an interpreted voice.
It relies on someone interpreting intention.
Which is very different to her controlling what it is she wants to say (even if the boards on eye gaze device are augmented). *I’ll let Jo explain later 😉
If you truly want to give her a voice, then invest yourself in the needs of the eye gaze.
Alternatively you will find yourself settling for something that will ultimately be a source of frustration. Until the eye gaze, low tech was the only recourse, but now you have the ability to take this a step further.
Once again, don’t let people stand in your way to giving your child a better quality of life.
About eye gaze devices
There are a bunch of eye gaze devices available and people often ask which is the best device to get.
In my opinion the best device is the iSeries+ from Tobii Dynavox, there are various other devices. but you will always find yourself yearning for the iSeries.
The other models like the PCEye Explore will only ever prove competence (a pet hate of mine) and PCEye Go is a great supportive or mobile device. If I was a parent though, my end goal would be an iSeries.
It’s an expensive beast and it’s up to you whether you want to compromise on cost; the EyeGo is substantially cheaper.
Why do I hate the “prove competence” statement?
Because it’s essentially bullshit and an argument people use to block girls from accessing something that should be provided without question. Competency testing is a crutch for asshats to deny voices to people, under the guise of it looking like it’s a “considered process”.
When you watch girls expressing themselves on eye gaze devices on the internet, they are not lucky, they are not lead or pushed in that direction. These girls are responsible for their decisions on the eye gaze, they are in control of what they say.
The faster you learn to accept that statement the easier this process will be.
Simone (Jo’s Mom) says [highlight]“If I don’t believe in her, who will?”[/highlight]
Believe in her. Believe in her ability.
The importance of literacy.
David Koppenhaver spoke about the importance of literacy in a Webinar about AAC (Augmentative and Alternative communication) last year. How (AAC) users can never truly express themselves unless they have not only the ability to read but to write as well.
You can have 100 pages of symbols that you understand but if the words you want to express aren’t there you’re in trouble.
This is only the first step in enabling our ambitions for people who suffer with Rett syndrome, we have an end goal…literacy.
“Kind of a big deal”
I’m incredibly lucky to be friends with a very special young lady on Facebook, who uses this technology to voice her fabulous sense of humour and her incredibly astute observations from her perspective.
In a very short time Jo has forced me to question how I perceive Rett syndrome and how I treat people with Rett syndrome.
This is what Jo (who incidentally has Rett syndrome) has to say about AAC.
A lot of people have been asking me what my opinion is on having a device be phrased-based instead of selecting or typing out individual pictures or words. I believe there is a time and place for both.
My software allows me to save and memorize sentences and words as I type.
I decide what “phrases” are readily available for me to re-select.
This is no different than the auto predict on your phone, used to quickly type something.
A communication device is not intended for you to hear me say what you want to hear. It is meant for me to be able to able to express myself freely. Unless you are a mind reader, how do you know what I want to say? How can anyone predict every single thing someone wants to say?
If I only have the option of selecting pre-made phrases someone else has written then I am only independently choosing what you think should be said and not what I want to say. BIG difference!!
Having certain sentences close by to quickly say in a hurry – great. Being subjected to your opinions and not being able to express myself authentically – not cool.
Just my opinion….
Thank you Jo, your opinion is gold 😉
I’m sorry it’s taken so long for me to blog, as some of you know I’ve recently started a new job. I was meaning to write this blog a long time ago, but sometimes life happens 😉