Still water

 Your child is not “retarded”.

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.

Detailed in this Science Daily release –https://www.sciencedaily.com/releases/2012/04/120417143812.htm

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.

You can read the whole article in Scientific American here – https://www.scientificamerican.com/article/the-hidden-potential-of-autistic-kids/

Intelligence is plastic

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.

Make this your focus.

Still water

Rett syndrome nutrition & the big second brain (your tummy)

Good nutrition is the building block of a healthy brain.

New research is telling us really important stuff about the gut and Rett syndrome nutrition.

How it is now seen as our second brain and also as a window to our brain health.

The army in your tummy - Rett syndrome nutritionOur guts are incredible things; they’re also one of the most important cogs in how our body interacts with our brain. 

[The second brain in our stomachs – BBC News]

New studies have shown that tummy health helps mind health.

We have identified that gut health is even responsible for our behaviour. 

[Anxiety and depression caused by stress linked to gut bacteria living in intestines, scientists find | The Independent]

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?

Anxiety

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.

Depression

I think this paints a picture of behaviour for many of the girls, who seem to cycle through bouts of depression.  

Immunity

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.

Neurohealth

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.

[Prebiotic feeding elevates central brain derived neurotrophic factor, N-methyl-d-aspartate receptor subunits and d-serine]

A living approach to gut health

We have known for some time that nutrition is vital to the health of the girls, but how much more should we be focussing on this method as a direct and possible treatment?

Things as simple as modifying gut bacteria could alleviate and reduce stress in the girls.

[Link Found Between Gut Bacteria And Depression | IFLScience]

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.

Social enrichment

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.

Here are some links :

• [Early social enrichment shapes social behavior and nerve growth factor and brain-derived neurotrophic factor levels in the adult mouse brain.  – PubMed – NCBI]

• [Early social enrichment augments adult hippocampal BDNF levels and survival of BrdU-positive cells while increasing anxiety- and “depression”-like …  – PubMed – NCBI]

How Ketamine helps

What I found interesting in some recent studies, is their is research into using Ketamine to help with anxiety and depression.

[Ketamine tested as severe depression treatment – NHSUK]

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.

Here is a more information about Ketamine possible affect on Rett syndrome. [Could Low-Dose Ketamine Help Patients with Rett Syndrome? – Consult QD]

So what other good stuff you got for me?

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.

[Serum BDNF Concentrations Show Strong Seasonal Variation and Correlations with the Amount of Ambient Sunlight]

Ampakines

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

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.

[A Study of the Treatment of Rett Syndrome With Folate and Betaine]

SSRI’s (Selective serotonin reuptake inhibitors)

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.

[Lithium and antidepressants potential treatments in Rett syndrome]

Omega-3 Fatty Acids

Remember fish oils? 

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.

[Dietary omega-3 fatty acids normalize BDNF levels, reduce oxidative damage, and counteract learning disability after traumatic brain injury in rats.  – PubMed – NCBI]

[Therapeutic use of omega-3 fatty acids in bipolar disorder.  – PubMed – NCBI]

Nutrition

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.

It’s also something you can affect.

Rett syndrome nutrition & the big second brain (your tummy)

The Trofinetide trial is important to Rett syndrome.

We now know what Rett is, what causes it, where it’s located. We have proven it’s reversible and for the very first time, we potentially have a treatment that could profoundly impact the disorder.

Crucially, improvements were shown after less than 2 months. Because of the way Trofinitide works, we could expect to see continued improvements over a longer period of time.

This will be the purpose of a phase 3 trial.

What is Trofinetide?Subtle symptom successes

Trofinetide is designed to improve nerve connections in the brain. It modifies Rett biology which means it tackles more than one symptom at a time.

I previously wrote an article that explains Trofinetide and what it does in greater detail. I’ve put a link at the end of the blog.

What was the result of the phase 2 Trial?

The reason for trial was to prove that Trofinetide is safe for use in the younger Rett population (Paediatric).

Safety for older women was already proven in an earlier trial.

It also showed gains to the baseline which was measured by caregivers and clinicians. (Phase 3 will be an actual study of these improvements.)

It showed improvements for the largest dose, compared to the placebo, both statistically and clinically.

This improvement continued right through the treatment, to when it stopped. This suggests the may be more benefits with longer treatment times.

Caregivers and Clinicians spoke of gains from 15-16% above the baseline in 59 Days.

What happens now?

First we go through a Toxicity study (Safety Assessment), and in 2018 3rd phase trials start.

After that Neuren will apply for a New Drug Application with the FDA, which, hopefully, will be approved.

Those should be the hurdles to Trofinetide being distribution ready.

More information

Trofinetide potentially offers measurable change to every person living with Rett syndrome.

My previous Trofinetide blog(which goes into greater detail about what it is) can be found here

Trofinetide is the lead product from Neuren Pharmaceuticals, a biopharmaceutical company developing new therapies for brain injury, neurodevelopmental and neurodegenerative disorders.

The Trofinetide trials are sponsored by Rettsyndrome.org

The Trofinetide trial is important to Rett syndrome.

Boys with Rett syndrome

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)
  • Somatic mosaicism

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.

Clinical diagnosisA 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.

 


More information

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.

Link to the Revised clinical Diagnostic criteria for RTT


If you need clarification, or something doesn’t make sense, please open a chat with me or email me (duncan@armyofus.org). I will do my best to explain it.

I am not a doctor, or a scientist or a clinician, but I do try take your questions to people that are. I also try run my information past qualified people to ensure it is correct.

If I am wrong, I need to know.

Boys with Rett syndrome

How to tell a family their daughter has a Rett Syndrome diagnosis: A message to all doctors and genetic counselors

Brooklyn Age 2
Brooklyn Age 2 = year of Rett Syndrome diagnosis.

It is Down Syndrome Awareness month and I read a brilliant post about “How to Deliver A Down Syndrome Diagnosis the right way”  – which, by the way, I encourage everyone to read.

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>

WHAT?!?

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.

This post originally appeared on Kelly’s blog at specialmommyx2.com

How to tell a family their daughter has a Rett Syndrome diagnosis: A message to all doctors and genetic counselors

Regression

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.


*update

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.

Regression

No ordinary girl

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).

Sherry Greenoe is 58
Sherry (58)

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.

Jolene
Jolene (33)

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).

58 Sherry
52 Nola
51 Kristi
47 Ann
43 Tabitha
42 Jennie
41 Kathy-Jo
40 Kris
40 Ciara
39 Amanda
38 Shelly
37 Heather
36 Nicole
36 Laurissa
35 Tala
35 Shana
35 Renee
35 Lisa
34 Shelly
34 Samantha
34 Kelly
34 Brandy
33 Rachel
33 Megan
33 Jolene
33 Emma
33 Courtney
33 Brandy
33 Annie
32 Trudie
32 Teshina
32 Pauline
32 Kacie
32 Gemma
32 Deirdre
32 Charity
31 Kimberly
31 Chelsea
30 Allison
29 Charlotte
29 Ashley
29 Amanda
28 Stephanie
28 Siera
28 Laura
28 Keisha
28 Crystal
28 Amanda
27 Stephanie
27 Ashley
27 Akasha
26 Shelby
26 Sarah
26 Kirsty
26 Katie
26 Jessica
26 Jenna
26 Jasmine
26 Chelsie
26 Caryn
25 Silvia
25 Rebecca
25 Nikole
25 Khrista
25 Erica
25 Chelsea
24 Sabrina
24 Renée
24 Rebecca
24 Kelsey
24 Jessie
24 Hillaree
24 Emily
24 Breezy
24 Angela
24 Amy
23 Taylor
23 Sydney
23 Sarah
23 Raquelle
23 Rachel
23 Lyndsay
23 Katelin
23 Kassandra
23 Emily
23 Alyssa
22 Stephanie
22 Natasha
22 Daniela
22 Chelsey
22 Alianna
21 Vivienne
21 Stephanie
21 Megan
21 McKenna
21 Laurie
21 Kayla
21 Katelyn
21 Kate
21 Grace
21 Brooke
21 Amber
21 Alexandria
20 Laura
20 Samantha

No ordinary girl

Keep looking forward.

Looking forwardIn 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.

Keep looking forward.


The colour album can be found here.

The black and white album can be found here..

Keep looking forward.

More about the #REALLIFERETT Campaign

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.

I think #realliferett is the same.

It allows us to be human.

One of the worst things for parents of a child with Rett is “She can’t tell me when it hurts”.

Strangely enough, even though you can, you never do.

Thank you Trish, for being so honest.

More about the #REALLIFERETT Campaign

Real life Rett

#realliferett

#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!

Trish

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We’ve created a set of Profilomatic frames for #realliferett, you can find them here.

http://armyofus.org/real-life-rett/

Real life Rett