I had never heard of Rett Syndrome before my daughter was diagnosed in 2011. I didn’t even really give much thought to what life with a severe disability was like. Now I’m battling stereotypes and trying not to let my family be defined something I had never known existed.

Here’s the three things I ask:

1. Don’t make assumptions based on what you see. There’s a whole lot more to people than their disabilities.

2. Don’t show pity. My daughter is perfectly happy. Don’t assume that her disability makes her miserable.

3. Be kind. Smile. If you’re brave enough, say hello. My daughter loves to make new friends.

Rett Syndrome

Rett Syndrome is a neurological condition which often affects previously healthy young girls, between their first and second birthdays. This leaves the individual with complex medical needs and multiple disabilities. Most of the girls affected are left without use of their hands, have breathing problems, seizures, anxiety, gastrointestinal and orthopaedic issues and often require a feeding tube. It happens due to a spontaneous genetic mutation and can affect any family at any time.

Rett syndrome is not related to brain damage and through research, it has been shown that these young girls understand and know more than they are able to communicate and show you. They are essentially trapped inside a body which cannot obey the commands that the brain sends out.

In 1999 scientists managed to identify the genetic mutation that causes Rett syndrome and in 2007 they unexpectedly reversed the condition in mice, even in the later stages of the disease. This alone is incredible and hopefully, through hard work and help from people around the world, we can finally reverse Rett syndrome in the girls with the condition.

- 50% of the girls will NEVER walk
- 99% of the girls will NEVER talk
- 1 in 10,000 girls are affected
- 17 girls per day are diagnosed with Rett syndrome worldwide

But there is still hope, Rett syndrome does not define a person.
Rett syndrome IS reversible.

To find out more or to make a donation please head over to

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[Lyrics at bottom of post, past all the footnotes.] 

Before anything else, I have to say I love Susan Boyle’s singing.  I saw an interview once where a guy who worked with her to record songs, said that he’s never really met someone like this before – where basically, if she identifies with the characters the song, her singing is amazing, and if she can’t identify, she doesn’t sing well at all.  Which is something that makes total sense to me.

It took me a long time to be able to watch or listen to her, though.  I found other people’s reactions to her painfully familiar.  I guess I identified with her too much.  Both in watching how other people treated her and talked about her, and watching her trying to adjust to the new attention and publicity in her life.  I was glad people were recognizing her talents, but I boiled over with rage at the fact that most of the people who put her on a pedestal now, would have continued making her the butt of every joke if they’d never realized how well she could sing.  It’s like her singing skills made her human, and that made me beyond enraged.  

Hearing stories of how even as an adult, little kids would find ways to poke fun at her in public, reminded me too much of my own life.  Having recognition of my humanity depend entirely on recognition of my talents – same.  Watching her try and fail – spectacularly and publicly at times – to handle the ugly side of celebrity… I’ve never been and hope I never will be a true celebrity, but I’ve had my fifteen minutes of fame (which I only consented to because I thought it would get certain messages out there and was told hiding from all publicity might be selfish) and it was one of the most miserable experiences of my life.  So there have been many times I’ve found it too acutely painful to follow her, because I could identify with too much of what I was hearing.  It was like touching a raw nerve, I couldn’t handle it so I just looked away.

And also… and also.  I recognized her the moment I first saw her.  I recognized her as ‘my type of people’.  (Something that, while it has more overlap with some labels than others, is not tied to one specific disability label.)  I was not surprised to hear she was labeled as having some kind of nonspecific developmental disability growing up.   I was thoroughly unsurprised when, after all the publicity, and after some very public meltdowns, she was diagnosed with autism(1).  These things were on the order of “How did other people not notice?”

Which leads me to a question I’ve had for a long time:

Some autistic people are absolutely and totally obsessed with finding and listing famous people that they believe are autistic.  Much of the time, the people they’re calling autistic are either undiagnosed now, or were born and died long before they could’ve been diagnosed, so they’re guessing.  (I’ve got some problems with that kind of guessing, at least the way they do it.)  Sometimes, they do list people who are officially diagnosed.  But at any rate…

Of currently-living people, Susan Boyle may be the most famous person on the planet with any kind of actual official autism label.  She’s not famous for having autism, but she’s famous and she’s been diagnosed with Asperger’s, and these are facts that are readily available.  She’s certainly way more famous than Temple Grandin – she’s a worldwide household name, Temple Grandin isn’t.

I have never seen Susan Boyle on a list of famous people with autism.  And these lists are circulating all the time.

There’s probably a lot of reasons this doesn’t happen.

But I suspect I know one reason that it sometimes doesn’t happen.

One way that I identified with her right off the bat – she’s embarrassing.

Before anyone gets mad at me for saying that, I’m not saying I’m embarrassed by her.  I am saying that lots of autistic people probably are.  I can’t explain how I know this.  I just know that she has qualities that I also have, and I have been outright described many times by other autistic people as so horribly embarrassing to look at that it’s a terrible thing that videos of me even exist, or that people look at those videos and pass them on.  

She’s visibly odd in ways that some of us are and some of us aren’t.  So am I.  We’re not visibly odd in identical ways, by any means.  But… I can sort of map out the reaction some people have to me, and map out the way she moves and responds to things around her, and map out the fact that some autistic people are not going to respond well to her.  Also our physical appearance is… I wouldn’t call us ugly (I find people with distinctive appearances attractive, actually – probably an outgrowth of faceblindness), but a lot of people definitely would.  And autistic people are far from immune to judging other autistic people based on things like our weight, face, dress sense, mannerisms, etc.  And while being nerdy and geeky have become cool in some circles, it’s still never cool to be dorky.  Susan and I are dorky.

Also I have to wonder if there’s any element of this related to the fact that she’s famous for something that’s part artistic skill (including both creativity and technical skills), and part emotional skill.  She’s got a great voice, but that’s not what people respond to.  People respond to her ability to put herself into the shoes of whoever the song’s point of view is from, and then translate that raw emotion into a way to use her talented singing voice.  If all she had was a good voice, nobody would know her.  What she has is empathy.

And according to stereotype, autistic people aren’t even supposed to have empathy, let alone rely on empathy to guide our greatest talents in life.  Even autistic people who know intellectually that this is not true, tend to view other people with autism as having talents primarily in technical areas, not emotional areas, and if they are in emotional areas, they’re to do with self-expression, not empathy.  But, in fact, some autistic people are if anything over-empathic to the point it can become painful, like another source of sensory overload.  I’m one of many such people.  She’s another.  And if she didn’t excel at putting herself in a character’s shoes and then expressing the innermost feelings of that character artistically, nobody would know or care who she was.

So I think all of those things add up to why she’s not on many – not on any I’ve seen, but I can’t claim to have seen them all – of those lists of “famous autistic people”.  Despite the fact that she’s world-famous and actually (unlike half the people on those lists) officially diagnosed.  It’s also possible that some of the people making those lists simply don’t know this about her, but I can’t buy that nobody making such a list would have noticed by now.

Mind you, I don’t think she’d care whether she’s on such a list or not.  She doesn’t strike me as someone who gets caught up in the identity of being an autistic person.  She strikes me as someone who sees that as one way of describing some of who she is, but that who sees themselves primarily from outside the lens of autism.  (Which I find refreshing.  People who get too caught up in autism-as-central-identity tend to lose sight of important parts of who they are, even if their view of autism is broader and more positive than the official one.  There’s something dehumanizing about the whole thing that even the most ardent supporters of ideas like ‘neurodiversity’ have never been able to fully remove from the concept of autism.)

The only reason I care, is that… well… I don’t like to see people treated as too embarrassing or too non-stereotypical for recognition of that kind.  And because I don’t know of anyone else who is both officially recognized as autistic and famous primarily for an empathic skill.  Lists of people who all have skills in roughly the same (usually science/technology/etc., sometimes artistic but still in a sense that’s viewed as somehow solitary and unconnected to people) skill areas, give the impression that we can only be good at things in a narrow range of areas.  Or even that we shouldn’t even try in other areas, because those things are ‘not for us’. And that can become incredibly limiting and confining. 

I have a friend who says that people with intellectual disabilities are often stereotyped (even by people trying to “highlight their strengths”) as ‘mindless hearts’, while autistic people are often stereotyped as ‘heartless minds’.(2)  It’s time people recognized that autistic people can be interested in or excel in “heart-related” areas and people with intellectual disabilities can be interested in or excel in “mind-related” areas.  But most of all, it’s time people recognized that all of us have both minds and hearts.

(1) I stopped differentiating between the different diagnostic sub-labels of autism long before the DSM lumped them all together as one diagnosis.  It’s not that we don’t vary from each other in important ways.  It’s just that those ways are not captured by any division anyone has ever come up with to split us up into categories, whether that’s “high functioning” or “low functioning” or purported differences between Asperger’s, autism, and PDDNOS.  Also, in times and places where various diagnostic labels have been used, they’re not always used by the book.  Meaning there are lots of people who fully more than qualified for a straight ‘autism’ diagnosis who were labeled with PDDNOS or Asperger’s because of age or stereotypes.  Age?  Adults getting an autism diagnosis are often labeled with Asperger’s whether they actually meet those criteria or not.  Because, even (as in one person I knew personally, and she was far from unique) in someone who didn’t speak a word until their mid-teens and grew up labeled with a severe intellectual disability, both of which make you disqualify massively for an Asperger diagnosis, the fact that she could talk in her late twenties meant she got diagnosed with Asperger’s.  She actually had mild Rett syndrome which was only discovered genetically after her daughter was born with severe Rett’s – but if they didn’t know about the Rett’s, the appropriate label would’ve been ‘autistic disorder’. 

It may seem odd that I care so much about people inappropriately getting Asperger’s diagnoses, if I don’t see Asperger’s as separate from autism.  The reason I care is that every time you get someone saying “If you made it to your thirties with no diagnosis you couldn’t possibly qualify for an autism diagnosis” or “If you’re talking really well now it doesn’t matter what your speech development was like,” it strengthens the stereotype that “real autism” can’t be missed in children and also strengthens the stereotype that every autistic person capable of talking to you about the matter actually “only” has Asperger’s and not “real autism”.  So it’s actually my objection to the way stereotypes are employed that makes me care about people using Asperger’s as a catch-all term for anyone who went undiagnosed until adulthood and anyone who can use language with superficial fluency at least some of the time.

So there ends my long explanation of that, there’s a reason I put it in a footnote.

(2) It’s more complicated than that.  Some of us get seen as both heartless and mindless.  Some autistic people (even without ID) get thrown into the mindless heart category.  And there’s a huge array of related disability stereotypes in general that I’d love to discuss someday.  But right now I don’t have the time or energy, so I’ll stick with my friend’s basic way of saying it.

LYRICS (”Mad World”, originally by Tears for Fears, as sung here by Susan Boyle, the lyrics are different from the original in some places):

All around me are familiar faces
Worn out places, worn out faces
Bright and early for the daily races
Going nowhere, going nowhere
Their tears are filling up their glasses
No expression, no expression
Hide my head I wanna drown my sorrow
No tomorrow, no tomorrow

And I find it kind of funny
I find it kind of sad
The dreams in which I’m dying
Are the best I’ve ever had
I find it hard to tell you
I find it hard to take
When people run in circles
It’s a very, very
Mad world
Mad world

Children waiting for the day they feel good
Happy birthday, happy birthday
Want to feel the way every child should
Sit and listen, sit and listen
I went to school and I was very nervous
No one knew me, no one knew me
Hello teacher tell me what’s my lesson
Looked right through me
She looked right through me

And I find it kind of funny
I find it kind of sad
The dreams in which I’m dying
Are the best I’ve ever had
I find it hard to tell you
I find it hard to take
When people run in circles
It’s a very, very
Mad world
Mad world

And I find it kind of funny
I find it kind of sad
The dreams in which I’m dying
Are the best I’ve ever had
I find it hard to tell you
I find it hard to take
When people run in circles
It’s a very, very
Mad world
Sad world
Mad girl
Mad world

An X-linked Autism Spectrum Disorder

Rett syndrome is a postnatal neurodevelopmental disorder defined as an X-linked autism spectrum disorder. Put simply, it affects the development of the nervous system after birth. The underlying genetic defects have been associated with the X-chromosome, and it is a disorder which comes under the Autism Spectrum of disorders.

Rett syndrome principally affects women. Approximately 1 in 10,000 women are affected by this disorder. Despite being a genetic, developmental disorder, the symptoms for Rett Syndrome do not usually present until about 6 months following birth. What seems to be occurring is that impairment in the development of the nervous system is having a deleterious effect on learning. The symptoms are characterised by:

  • Normal development during gestation and for the first few months following birth, followed by a phase of developmental regression
  • Deceleration of head growth
  • Breathing disturbances during (but not limited to) waking
  • Loss of acquired skills in manual dexterity and hand movements resulting in repeated hand movements such as clapping, hand squeezing, wringing, and rubbing
  • Evidence of social withdrawal
  • Loss of learned vocabulary

Classical Rett syndrome exhibits most of the aforementioned symptoms and is usually the severe form. Variant Rett syndrome exhibits fewer of the described symptoms, so may appear to be more ‘mild’. In Variant Rett syndrome, there is improvement in the social withdrawal and communication symptoms into the mid to late teens. Disturbances in movement persist, however. There is also the risk of Rett syndrome patients undergoing scoliosis. Scoliosis is extreme curvature and twisting in the structure of the spine, showing some impairment in skeletal development also.

X-ray of scoliosis in a teenager, picture from The Lancet p.1533 vol.317 (2008)

Rett syndrome has been linked to a mutation in the X chromosome. In particular, this mutation occurs within the MECP2 gene. This gene codes for a protein involved in regulating the activity of some other genes by switching off their function. The mutations responsible for Rett Syndrome appear to inactivate the MECP2 gene, thus impairing gene silencing. Ordinarily, different genes are expressed during different stages of development. In Rett syndrome, genes from an earlier developmental stage which should be turned off to allow for a shift in genetic profile, remain switched on thus confusing the developmental progress. This disrupts the pattern of genetic expression, and has knock on effects on later development.

Rett Syndrome is part of the Autism spectrum disorders due to the social withdrawal which makes up part of the syndrome. Social skills rely on aspects of learning, and learning appears to be affected in Rett syndrome, as is evident from the loss of learned (acquired) skills. Learning is a process which involves modifications of the existing wiring of the brain, as well as forming new connections between neurons. This can be seen as a developmental process as neurons must produce new proteins and modify their structure and function. The impairments to cognitive and social function which occurs due to Rett Syndrome may be attributed to the effects of the mutations on learning and general development.

In studies comparing the size and weight of brains from average girls with those of Rett Syndrome sufferers, scientists found a reduction in weight of the brain of between 14-34% demonstrating a deficit in brain development. Regions which were affected the greatest were the cerebral cortex, midbrain and basal ganglia. Consistent with the symptoms, the cerebral cortex is principally associated with higher cognitive function and learning. The midbrain is part of the brain stem, and is involved in regulating basic processes such as respiratory rhythm and heart rate. The basal ganglia have some involvement in learning, as well as being the coordinators of limb movement.

A simple diagram of brain anatomy. I put this here because it shows the locations of the brainstem, cortex and the basal ganglia. The basal ganglia are a set of structures which include the structure highlighted in the diagram (which is the thalamus) are actually difficult to show a diagram of the brain such as this, as they’re actually buried within each hemisphere, and this picture only shows a section down the centre of the brain ( a sagittal section).

There are neuronal circuits in the brain stem which regulate breathing, outside of conscious influence. Impairment in the development of these circuits disrupts the function they’re supposed to carry out and this can have a knock on effect on how the brain coordinates breathing. The breathing difficulties appear to be most pronounced during waking hours, but do occur at night - albeit to a lesser extent. This has been attributed to the different neurochemical states the brain occupies during sleeping and waking. What this means is that some populations of neurons which use different neurotransmitters as their means of communication with each other, are implemented during sleep.  Activating a different system of neurons which is less affected by the underlying pathology of Rett syndrome may produce less negative effects on breathing. There may be impairment in the connections from arousal centres which feed into the breathing circuits to match their function with the organisms current state of arousal (sleep/wakefulness).

Rett syndrome is still a poorly understood disorder, and the science behind how it affects breathing still has some way to go. So far, our understanding tells us this much, but this complex disorder demonstrates the complex array of functions genes carry out, and how a large part of our seemingly fluid mind is at the mercy of basic genetics.

Does Anne follow anyone here on Twitter?

@aslowmotionaccident is trying to spread the word to try and raise money for a little girl, a daughter of a friend, who has Rett Syndrome to get to Disney World more information here - she is extremely poorly and they are not sure if she will make it past Christmas. They want to make as many memories as possible. 

If Anne follows you (or you know of someone that Anne follows) please contact me or @aslowmotionaccident and we can give you some wording for a tweet that would be amazing if you could then tweet to Anne.

Thanks in advance <3 and please reblog to help us try and find someone. 

Another FC story: a truly blind facilitator

This one from a mother and daughter I know. They both have Rett syndrome, the mother mild and the daughter severe. The mother was just diagnosed as having autism and a severe intellectual disability growing up, until she learned to write, and later speak. Her daughter will probably never speak but does type using FC.

They have used a lot of ingenious ways of proving that her daughter is really the one doing the typing. But one of them involved having a blind facilitator. As in, the facilitator himself was literally blind and could not see the letter board. They set everything up like usual, to show to a skeptical teacher. Then without telling the facilitator, they flipped the letter board upside down.

The daughter of course continued to type perfectly accurate responses. The facilitator was very confused and somewhat agitated about the whole thing, and kept asking “are you sure you meant to hit that letter?” But she firmly continued to type on her upside down letter board, and the facilitator clearly had no idea she was typing anything other than gibberish. He was able to give her hand the support it needed to type without having to see the letters, because it was her hand he was focused on.

After that incident, the teacher no longer doubted that the daughter was doing her own work. I’ve never doubted it either. Her daughter is highly sensing and has an entire way of communicating that doesn’t involve speech or typing at all. The content of her typing matches the person she comes across as on a sensing level. Hard to explain.

I wish she and her mother would write a book together because they have both done so many interesting things. But too much of their time is taken up by survival. The daughter has severe health issues and many times has had a projected lifespan of months. So working on a book would not be her priority. But I wanted to add this to my #fc tag for those interested in stories about FC, both done right and done horribly wrong, and my thoughts on the matter. I can’t consolidate all those ideas into one post so I keep them all in one tag for those who have expressed an interest in my experiences and opinions.

Ed’s visit with sweet Melody today has special meaning to me, more than anyone might realize. My beautiful, sweet, almost 3 year old niece Emily, was diagnosed with Rett Syndrome this year, the same thing this precious girl has. Rett Syndrome is terrifying, it has robbed my Emily-girl of her speech, the use of her hands, the ability to eat and digest properly, and at some point it will likely confine to her to a wheelchair. It also eventually will likely cut her life short. 😢💔
Many skills and abilities she once had, she’s lost because of Rett. She’s smart as hell, feisty as the day is long, and is learning to use Eye Gaze technology to communicate, since she’s unable to use her voice, and nobody has a brighter smile and a more beautiful laugh than my niecey.

Seeing our Teddy so lovingly give his time and energy, and his HEART, to this beautiful, special little girl… It just overwhelms me and makes me love him that much more. I shed some serious tears today watching him love on another little Rett Warrior. 💜💜💜💜💜💜 I love his heart so hard it hurts.

So to Ed, and to Stu, bless you for taking the time to make this happen, for making her dream come true, and for shining your love and light on a day that we all needed it so badly. It means more to me than you’ll ever, ever know. 💕


anonymous asked:

I'm sorry, what you're arguing is terrifyingly close to "binary is the rule, intersex people are mistakes" and I can't condone that. When arguing this PLEASE don't forget that you're talking about human beings and not just theories.

‘Mistake’ implies some kind of agency, so I wouldn’t go that far. Nature doesn’t make mistakes, as such, it just is.

What’s successful survives, what is not successful does not. However, exceptions always exist, because our genes have a bit of randomisation and mutation.

Consider how there are:

  • New mutations for non beneficial traits, such as Rett Syndrome
  • Conditions which appear only in later life, such as Huntington’s Disease
  • Recessive disorders where both parents can be healthy (but carriers), such as Cystic Fibrosis
  • Conditions which involve many genes, such as Schizophrenia
  • Non-beneficial traits which are an inevitability of beneficial traits, such as Specific Phobias

So you see what’s being said - nature, by nature, selects against non-beneficial traits. All the above bullet points are how non-beneficial traits are able to slip through.

Nature selects for sexual dimorphism. However, a mutation in the sex cells can result in Turner syndrome, and there’s a recessive condition of 5α-Reductase deficiency, among many, many other intersex conditions.

This doesn’t mean that the human beings with these conditions (intersex and non-intersex alike) are ‘mistakes’ - remember that nature is the blind watchmaker; it has no intentionality. It also doesn’t mean that they are somehow ‘worth’ less.

It means that they have non-beneficial traits that nature selects against, but in an exception of cases it happens anyway.

Male and female exists - sexual dimorphism is the norm. Some people exist outside of the norm - just as they do with every other norm. That’s okay. But it should also be okay to state that the norm exists.

Oh my goodness…. You guys remember sweet Melody, the little princess with Rett Syndrome Ed visited last month? Her sweet mum started a fundraising campaign for a new iPad for Melody because her old one was dying, and she loves and depends on his music and videos so much. Guess who went out and bought her a brand new one.
He just owns my heart that Boy 💚💚💚💚💚

{Credit to Melody’s mum on Twitter}
Simon Cowell and Louis Tomlinson pay £15k for paintings from artist, 11
Stars splashed out on Rhea Kara's artworks - with proceeds going towards vital research into Rett Syndrome which she has vowed to find a cure for
By Rachel Bishop

22:39, 31 OCT 2016  UPDATED 23:50, 31 OCT 2016  BY RACHEL BISHOP

Stars splashed out on Rhea Kara’s artworks  - with proceeds going towards vital research into Rett Syndrome which she has vowed to find a cure for.

Good Morning Britain Fundraiser of the year Rhea Kara joined a host of winners at the Pride of Britain Awards tonight - and she got the seal of approval from Simon Cowell and Louis Tomlinson.

The 11-year-old artist’s incredible fundraising efforts for Rett Syndrome were recognised tonight as comedy duo Ant and Dec handed her the Young Fundraisers Award.

Rhea was so moved by the plight of children with the incurable condition that she painted a picture each day for 100 days and sold them, raising thousands for research .

Spice Girls Geri Horner and Emma Bunton brought on two of her paintings and the Geordie boys then auctioned it off.

Louis Tomlinson and Simon Cowell paid £15,000 each for the artworks.

On stage, Susanna said: “You have such an exceptional talent as an artist. You are fantastic and have done so much for the cause.”

Dec said: “You have used your talent selflessly and you really deserve that award. Well done.”

Speaking afterwards Susanna told the Mirror: “When we were judging his award, what stood out about Rhea was her selflessness.

"She feels the disease and the pain even though she is not directly affected.”

Ben added: “She has an incredible passion for art, that has manifested itself in a brilliant way to raise money.

Rhea was handed her award - introduced by Susanna Reid and Ben Shephard - at the awards hosted at the Grosvenor Hotel.

Speaking afterwards, Rhea said: "Having Simon Cowell bidding on one of my paintings was so exciting. I was a bit nervous before but I am just so excited to be here."I loved being on stage with Ant and Dec.

“No matter what it takes I’ll keep going.

"My friend Hannah didn’t do anything to deserve her situation, I’m going to keep fundraising until I find a cure for her.”

Our winners include children facing daunting adversity, inspirational campaigners, members of the emergency services who went beyond the call of duty, and people who displayed awe-inspiring courage to save others.

Good Morning Britain Young Fundraiser of the Year Rhea Kara with Geri Horner, Emma Bunton and Ben Shephard

anonymous asked:

Is stimming purely an autism thing? Please tag frech fry

Nope, self-stimulation, or stimming for short, is a common behavior in individuals diagnosed with autism, but the fact is that neurodivergent and neurotypicals alike do stim. There may be differences in the reasons why though. 

Some people stim because of the need for sensory regulation. A lot of people diagnosed with autism or sensory processing disorders are more likely to stim because of this. This is because they may experience hypersensitivity (bolder or more extreme sensation) or hyposensitivity (duller or more muted sensation). In order to create consistency and balance in their sensations, they may engage in whatever stimming behaviors that are familiar or comforting or provide the right amount of sensation. 

Some people stim to help with emotional regulation. Stimming can help someone keep their emotions from becoming too overbearing or overwhelming if they feel their emotions too intensely or too many of them to handle at once. (You may do this and not even notice it. I know I rock and chatter my teeth when I get overwhelmed)  People also stim when experiencing positive emotions, engaging in things like hand flapping, bouncing, and toe-walking. 

The other two main reasons for stimming I am less familiar with, and am going to direct quote from this site, because they say it better than I can! (I also encourage you to check it out as well)

“Social Regulation - If we are not comfortable in a social situation but would prefer to take part anyway (maybe we are making friends, attending a meeting with new coworkers, or even surrounded by our closest friends but with more people in the room than feels ok), stimming can help us interact with others the way we want to. Some of us are introverts and need a way to relieve the pressures of socializing, and others of us are very social creatures who crave daily social interaction, but need a way to stay in the moment without being overwhelmed. Many of us are even ambiverts, who need both social stimulation and the safety of isolation, and we need a way to make sure we know what we need and when. Stimming helps us do that!

Pragmatic Regulation - Some people find other people’s stims distracting, and this is certainly something that can be addressed in situations like school or work where everyone needs to be able to focus. But often when we stim around other people, especially large groups of people, we do so in order to minimize distraction. In a crowded lecture hall with a fascinating speaker, we might want to jump up and down with excitement and ask a million questions because we are so engaged, but if we believe this will not be helpful to ourselves or our classmates in the long run, we might choose a stim like twirling our pens or rocking in our chairs to remain focused and engaged without disrupting others”

So even though stimming is typically associated with autism, anyone can do it regardless of if they are diagnosed with a mental illness, disability, or are otherwise healthy!

 For example, blind people engage in stimming often called blindisms, people with ADHD often engage in sensory or emotion regulating stims, individuals with Rett syndrome lose the ability to control their hands which often results in a hand wringing sort of stim, people with severe psychosis may stim for sensory and/or emotional regulation, and people with anxiety may stim for emotional regulation.  I personally, having anxiety, do some sort of stim/fidgeting in social situations. 

Hope this info was helpful. By the way, stimming is not a ‘bad’ thing!

Take care,


*jumps into your moving vehicle*

but what about when those of us with disabilities grow up? Our processing disorders, ADHD/ADD, etc don’t end when childhood does. Where’s the community centers for adults with Autism(ASD) or Downs or IDD or Rett? Where are our resources for our families and adulting?

these   ~*inspirational*~  ~*brave*~  children grow up to be adults

and we still need help

First Pre-Clinical Gene Therapy Study to Reverse Rett Symptoms

The concept behind gene therapy is simple: deliver a healthy gene to compensate for one that is mutated. New research published today in the Journal of Neuroscience suggests this approach may eventually be a feasible option to treat Rett Syndrome, the most disabling of the autism spectrum disorders. Gail Mandel, Ph.D., a Howard Hughes Investigator at Oregon Health and Sciences University, led the study. The Rett Syndrome Research Trust, with generous support from the Rett Syndrome Research Trust UK and Rett Syndrome Research & Treatment Foundation, funded this work through the MECP2 Consortium.

In 2007, co-author Adrian Bird, Ph.D., at the University of Edinburgh astonished the scientific community with proof-of-concept that Rett is curable, by reversing symptoms in adult mice. His unexpected results catalyzed labs around the world to pursue a multitude of strategies to extend the pre-clinical findings to people.

Today’s study is the first to show reversal of symptoms in fully symptomatic mice using techniques of gene therapy that have potential for clinical application.

Rett Syndrome is an X-linked neurological disorder primarily affecting girls; in the US, about 1 in 10,000 children a year are born with Rett.  In most cases symptoms begin to manifest between 6 and 18 months of age, as developmental milestones are missed or lost. The regression that follows is characterized by loss of speech, mobility, and functional hand use, which is often replaced by Rett’s signature gesture: hand-wringing, sometimes so intense that it is a constant during every waking hour. Other symptoms include seizures, tremors, orthopedic and digestive problems, disordered breathing and other autonomic impairments, sensory issues and anxiety. Most children live into adulthood and require round-the-clock care.

The cause of Rett Syndrome’s terrible constellation of symptoms lies in mutations of an X-linked gene called MECP2 (methyl CpG-binding protein). MECP2 is a master gene that regulates the activity of many other genes, switching them on or off.

“Gene therapy is well suited for this disorder,” Dr. Mandel explains. “Because MECP2 binds to DNA throughout the genome, there is no single gene currently that we can point to and target with a drug. Therefore the best chance of having a major impact on the disorder is to correct the underlying defect in as many cells throughout the body as possible. Gene therapy allows us to do that.”

Healthy genes can be delivered into cells aboard a virus, which acts as a Trojan horse. Many different types of these Trojan horses exist. Dr. Mandel used adeno-associated virus serotype 9 (AAV9), which has the unusual and attractive ability to cross the blood-brain barrier. This allows the virus and its cargo to be administered intravenously, instead of employing more invasive direct brain delivery systems that require drilling burr holes into the skull.

Because the virus has limited cargo space, it cannot carry the entire MECP2 gene. Co-author Brian Kaspar of Nationwide Children’s Hospital collaborated with the Mandel lab to package only the gene’s most critical segments. After being injected into the Rett mice, the virus made its way to cells throughout the body and brain, distributing the modified gene, which then started to produce the MeCP2 protein.

As in human females with Rett Syndrome, only approximately 50% of the mouse cells have a healthy copy of MECP2. After the gene therapy treatment 65% of cells now had a functioning MECP2 gene.

The treated mice showed profound improvements in motor function, tremors, seizures and hind limb clasping. At the cellular level the smaller body size of neurons seen in mutant cells was restored to normal. Biochemical experiments proved that the gene had found its way into the nuclei of cells and was functioning as expected, binding to DNA.

One Rett symptom that was not ameliorated was abnormal respiration. Researchers hypothesize that correcting this may require targeting a greater number of cells than the 15% that had been achieved in the brainstem.

“We learned a critical and encouraging point with these experiments – that we don’t have to correct every cell in order to reverse symptoms. Going from 50% to 65% of the cells having a functioning gene resulted in significant improvements,” said co-author Saurabh Garg.

One of the potential challenges of gene therapy in Rett is the possibility of delivering multiple copies of the gene to a cell. We know from the MECP2 Duplication Syndrome that too much of this protein is detrimental. “Our results show that after gene therapy treatment the correct amount of MeCP2 protein was being expressed. At least in our hands, with these methods, overexpression of MeCP2 was not an issue,” said co-author Daniel Lioy.

Dr. Mandel cautioned that key steps remain before clinical trials can begin. “Our study is an important first step in highlighting the potential for AAV9 to treating the neurological symptoms in Rett. We are now working on improving the packaging of MeCP2 in the virus to see if we can target a larger percentage of cells and therefore improve symptoms even further,” said Mandel. Collaborators Hélène Cheval and Adrian Bird see this as a promising follow up to the 2007 work showing symptom reversal in Rett mice. “That study used genetic tricks that could not be directly applicable to humans, but the AAV9 vector used here could in principle deliver a gene therapeutically. This is an important step forward, but there is a way to go yet.”

“Gene therapy has had a tumultuous road in the past few decades but is undergoing a renaissance due to recent technological advances. Europe and Asia have gene therapy treatments already in the clinic and it’s likely that the US will follow suit. Our goal now is to prioritize the next key experiments and facilitate their execution as quickly as possible. Gene therapy, especially to the brain, is a tricky undertaking but I’m cautiously optimistic that with the right team we can lay out a plan for clinical development. I congratulate the Mandel and Bird labs on today’s publication, which is the third to be generated from the MECP2 Consortium in a short period of time,” said Monica Coenraads, Executive Director of the Rett Syndrome Research Trust and mother of a teenaged daughter with the disorder.

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