Since 1997 I have been aware that my son and myself have Rett Syndrome. The problem that myself and my son faced was that there were no known cases that presented as we do.
I couldn’t get those medical people in Australia that were looking at Rett Syndrome to hear me. It was actually quite distressing. Even though they didn’t know what Rett Syndrome was, they felt they knew what it wasn’t. So my son and I could not access appropriate services or have contact with those like us. There was some comfort though, I had joined a group of Rett families on an internet list in the USA and we were welcome there.
Being rejected here in Australia caused me to study myself in depth. And in so doing, I discovered what Rett Syndrome is. I discovered what and how it affected people. I discovered what is causing it, that is, I discovered what is causing errors in the mecp2 gene.
I studied my early photos and saw that I fit all criteria of Rett Syndrome. (Please see Sean’s and my photo page). All the physical criteria were noted in my medical history.
My early life was very different to most with my disorder and I knew this had contributed greatly to my level of function.
I had one sibling, an elder sister, born four years before myself. She was in hindsight, hyperactive. When I was a day or so old my mother brought me home and put me in my sister’s bedroom. And that was where I stayed. To my sister I was somewhat like a living dolly. My sister incessantly pinched me and was free to treat me as she wished. As a result, I was more alert than most babies.
My parents owned their home in Epsom Road. By age 2, I had begun to walk and was soon placed in a children’s care facility where I stayed for a bit over 3 years. At which time I returned to live with my family in their new home in Merrin Street, having sold their former home.
I recall astonishing my family when I could describe the carpet of the house in Epsom Road. I was face down and upchucking milk, but couldn’t lift my head. So I was very young obviously and though seemingly normal to me that I could recall and describe the carpet accurately, it was apparently unheard of for a baby to do that. But as I say, I was very frightened by how I was being treated and it made me look out of my eyes earlier than would normally occur for a child.
This was to prove crucial because although grim, my eye muscles were ahead developmentally, despite astigmatism. I had better core strength than I otherwise would have and more.
Eye movement also sets down in memory so that you look without having to think about it and take in your environment automatically. This and so much is happening when you’re a child. All the movements a baby makes are all setting down in permanent memory, and this is how a baby moves on into lifting head and rolling and crawling. If these movements do not get into memory, trouble is brewing. Your limbs are not strengthening. You are not reaching mile stones, muscle mass is not developing. Nowadays therapies are sought to try and help the child experiencing such problems. One cannot walk, if these functional memories do not set down, or if the muscle to support you isn’t there.
Here in lies part of the difficulties for Rett folk. I began regression at age 1 but I had movements, albeit defensive movements, set down in permanent memory. This is one of the things that changed the outcome for me.
Another thing that changed the outcome for me, and this would apply to a good many walking Rett folk. Especially those Rett folk who didn’t lose much of their height. Rett Syndrome affects many developmental faculties, growth being one of them. Because each person has their own individual pattern of loss that Rett Syndrome follows and affects, it can cause specific developmental delay. So that when the actual messages instructing development to proceed become delayed by Rett Syndrome, then the Rett Syndrome itself becomes delayed and can’t impact with the sudden severity that it sadly can, upon others. This will often permit a better growth outcome. Unfortunately though, there is most often going to be some intellectual and learning difficulties present. There are quite a number of other facets that affect and influence the course of Rett Syndrome which I’ll go into with my essay titled ‘Rett Syndrome Pathways and Outcomes’.
I’ve written a biography which might be of interest to folks, so I won’t go into my own details here. That way folks who are busy and just want information, can have thus with my essays.
All my life I wanted to know what was wrong. I knew it was serious, but I had managed to keep going forward and was expected to. I was constantly being hit for anything I did which included putting hands together. So I was driven and in a constant state of fear and high adrenalin from very young. I really didn’t like that I couldn’t do things that others did so easily, I didn’t want other children to know something was wrong I just wanted to have a friend, so I would try and try and try. And the entire time I had such severe problems.
Terrible to say, but I was like a small compressed spring trying to stay alert but not able to. Clenched teeth, clenched hands, rigid, breath holding, completely confused, lonely and often force fed, so I was just in fear of people and surroundings, each and every day.
It took the longest time, most of my life, to finally understand what was wrong. I recall going outside and sitting beneath the clothesline and telling myself to look at my life, for us and for others dealing with Rett Syndrome and determine what is the specific problem causing all these issues. To my surprise, some moments passed and it came to me. I had no initiate system, I was working only in response. And as I went through each difficulty I could see that each and every way I was functioning, it was through response. This was the energy problem, this was how I achieved movement. This was how I could speak, this was what mecp2 governed; the initiate system.
No wonder my life had been so difficult and so difficult to explain. A child couldn’t possibly determine this as the cause behind all that was afflicting them. But thank goodness, I had finally determined after all the years.
And as time has gone by since that acorn moment, much more has fallen into place.
If we work on responses early in Rett folk, we can get movements into permanent memory. That the response system is utilising a memory system that Rett folk have access to.
It also meant that our species now had a way to determine what each system is governing, faculty wise.
The most unique yet awful disorder, Rett Syndrome.
By Fiona MacLeod ©
