Rett Syndrome & Some Thoughts – 6.28pm Sunday 14th September 2025

Rett Syndrome & Some Thoughts – 6.28pm Sunday 14th September 2025

My son Sean did something last night which helped me to see that which is at times almost impossible to see.

And he does have the exact same learning disorder as myself.

Being a fellow, does alter things some what, different development and milestones and the timing of those milestones parallel to the timing of mecp2 function.

I found myself remembering someone from I think it was 1997.

Long ago, I went through books that listed disorders and in the end I couldn’t find it, (I knew I’d recognize it despite my then inability to describe it) and thought I’m never going to find what this is.

Years later, my son came along and I wasn’t to know that he could inherit this difficult to describe condition.

Then learning about Autism and searching again. And coming across a person who used a head pointer to communicate. After reading one paragraph I knew without any doubt we had the same condition and yet her situation was so different to mine. The chances of my clicking that link were so slim and if I hadn’t, I might still be searching.

This lady has no hand use either and requires a wheelchair too. When she was I think 21, her mother discovered she could read and had taught herself through watching TV.  

From then on they were able to talk through text.

Hopefully they are still doing well.

Neither Sean or myself could have learnt to read from watching TV and I believe that many with a Rett Syndrome who have good mobility, would be more likely to have great difficulty learning to read that way too. And yet, for our significant differences I recognized myself in just a few of her sentences.

I always find that amazing when I recall that moment and because I’d searched so long as well.

Anyway, the following might interest or be helpful to those families where the learning disorder is quite severe.

The term learning disorder sounds minimal in a way, for some it can mean a bit of extra tutoring, while others can’t learn to write for instance. And of course so many different things can cause a learning disorder.

People naturally expect if you look normal enough, you can hear everything they say and understand it too. And if you can’t, you do become aware that people expect that you should, long before you understand most things. And some people might think shaking you will help or even yelling.

I didn’t grow out of my learning disorder as some people do are said to do, my brain began to use a different part to adapt to the expectations placed upon me. I had no idea how they worked, or why I couldn’t work like they did.

Thats how I do the work I do, by working differently and functional processes can often behave like a muscle in a sense. When you use a certain part a lot, it becomes extra strong. 

Both Sean and I use visual a lot. Something common to a lot of people with RS is the wait time to process something said. I suspect that, like us, if a visual of what you are asking can be shown, that some folks with RS will process a visual much faster. A simple example would be if you asked would they prefer grapes or apple or banana (for those who manage food) there will be a significant delay. Show a picture of them and you’re bound to get a quick choice.

It’s like a deafness without being actually deaf. There’s a shortage of function, resulting in a signicant delay of the information, and the person is stuck waiting for their brain to move the information along. Visual information is more direct and requiring less actual processing. That’s not to say that there won’t be people with RS who do not have a significant delay visually. However, if the child or adult can attend to movies and clearly enjoys them, but shows difficulty in processing spoken words, then visual is a good option. Without thinking about it, many times when trying to speak to Sean I will accompany it with a visual gesture.

Because Sean can’t tell me where he is with most things I can never be sure what he can hear in his processes but I got a good insight the other night.

Sean did lose hand use for a time but it did return. There are times when his hands join but for his needs his hands have good use. He is 34 years now and if the bath tap isn’t turned off properly, it drips and he forgets. When we brush our teeth and I hear it I ask him to turn the tap off and I will point at the bath. It happens that often he knows it’s about the tap.

On this occasion I was in his room straightening his bed and I asked him to go and turn the tap. 

He hesitated, he was waiting for his brain to tell him what I said and all he must have heard initially was turn, and because we were in his room he then used ‘meaning prediction’ and he thought that because we were in his room I must be referring to something in his room. So he turned on his air purifier because that’s the thing I often turn on. So that told me a whole lot of where he is but of course other days can be different because processing isn’t static. If Sean’s distracted for instance, anything at all can vary processes. But in general that let me know what he was thinking and was trying to do the thing I’d asked while also guessing what I’d asked, and assumed it had to be regarding where we actually were. Which is helpful indeed, I’ve been in his shoes and manage it much better now of course. I was married at 18 and that’s how I was, guessing, but I had experienced difficult school life and lived with my family (who had no understanding of my difficulties and tended to use violence), so I had a very large ‘file’ of peoples expectations and ‘meaning predictions’ and a huge ‘fear of the forman’. My parents made me very nervous and so I didn’t relax around them. When you’re in an alert state, it’s very tiring but it builds on your ability to try and keep focus. So I know the internalness Sean feels, it’s a lonely place, he knows he is disabled but like me and others, a person can only know what it’s like to be themself. My son is intelligent, but his difficulties hold him. The sense of panic one feels when expectation is upon you and you have no idea what the expectation is, nor the situation, and your brain can’t tell you.

In highschool, many students smoked cigarettes. A funny thing, if a disabled person smokes a cigarette with a group of able people smoking a cigarette, nobody sees a disabled person. It’s really weird, but it’s true.

Rett Syndrome was discovered by a Dr Andreas Rett. He noticed a group of patients, over the course of time that had these same features of the condition affecting them. With any condition identified this way, it’s going to be the features and the severity being so evident. I already existed before Dr Rett identified the syndrome so there was no chance anyone was going to know what my problem was. I was never treated like a disabled child. When I was placed in care for several years, I was age two and had just gotten up on my feet. They forced food in my mouth, they didn’t realize I had actual difficulty, it was treated as behavioural as was most everything else. If you were frightened they hit you, that meant be quiet. There wasn’t sympathy or understanding. You had no business putting your hands together. This was how they dealt with things back then. Two year olds can look disabled and people recognize that but there are two year olds who don’t look obviously disabled, who are dealing with something really difficult, but because it’s not visually obvious at age two, you have all toes and fingers, people treated a child like myself in the manner they did back then.

RS would have been extremely rare then too, I doubt there was another case for hundreds of miles. Somehow I managed to behave as forcibly expected and they managed to keep me going, but I expect it must have been difficult. Walking, eating, hands, toileting etc., and I know they had to deal with the screaming. And they had other children there with different problems. I was there for three years so I suspect I was a challenge. For me it is brief flashes of moments during the time.

I’m not able to recommend this treatment of me, or the years following when returned to my family. You get the family you get, but I would have so liked an affectionate, loving, understanding and fun family. 

I remember children at school and their parents just adored them. Their children were their life. In my family it just wasn’t like that. But still, no matter what your situation, there’s always someone worse off.

I think that we’re, (Sean and I) a little difficult to understand from the perspective of people who have a child with many severe aspects of RS. Mecp2 is a gene performing a unique function and having a variety of people presenting differently helps to actually understand the gene all the more. I have all the listed ailments of the RS diagnosis and my photos as a youngster certainly show my not walking and  other facets, but people aren’t accustomed to someone presenting as I do as an adult. 

I have a few analogies, for perspective. With a great many conditions you have the larger majority in the middle and then on one side you will have a small group, who, for a variety of reasons show a milder outcome and on the other side of the majority group, is the group, that for some reason and also the sad misfortune, of having a very extreme severity. 

I’m not sure if those with duplication error of mecp2 are diagnosed with a Rett Syndrome if they have all the medical criteria, I would think so. At the end of the day, if you have a mecp2 related syndromic disability, you’re not going to have an easy time because it’s a gene with such an important function.

I have long suspected that for a condition like Rett to be syndromic, a genetic switch flicks. The system recognizes the level of damage and disperses in a global way to allow the survival of the person. 

If so, this could be the case for other conditions that take a syndromic course, hence there should be some conditions that actually affect in a similar way or pattern as Rett, that are developmental also. This would explain how I have all the features, but to a milder degree. It was a large enough damage in my genetics to go syndromic, just causing lesser damage to all the areas, due to my error type, among other aspects.

Those folks who aren’t syndromic, but having perhaps a singular condition related to a mecp2 error, have been very fortunate. When working out my work, I use the term Rett disorder for this group, but that’s just a term I use, it isn’t a recognized term by the medical profession.

Fiona MacLeod (C)