Genetic Diversity and More – My family and Rett Syndrome

Posted on by Fiona

Genetic Diversity and More

5th July 2018

On Tuesday just passed, 3rd July, ABC news and Sky news channels both ran a story about the sequencing of Koala Genome. I saw more of the Sky news story, but not all of it.
It took me back to my work in the early 2000’s. I recall writing a quick email to my dear friend in the US, announcing, “It’s the repeats”. I had realised genes were different lengths for one thing and I was probably the first, (or among the first) in the world to do so.

She (my dear friend) had a great interest in understanding Rett Syndrome and all that goes with it, whether genetic or the biological aspects and so we each had this driven need to get to the bottom of this disability. She for her daughter and others, and me for my family (including myself) and others too. My communication was much more impaired back then, but she seemed to understand that and look past it, which of course meant a great deal to me. So I was able to send a quick email, without having to get stuck at the keyboard for hours and she never took offence at my single lines, (which were lacking in social content and more, and which I have a much better handle on now).

I remember my email to her letting her know that I had figured out what was causing Rett Syndrome and Autism and that ‘we were going to need a bigger boat’.

Previously, having studied myself, ie how I functioned, (something people with Rett Syndrome are not very comfortable doing) I had observed, without question, that although growth and other physical damage in Rett Syndrome had a permanency, the underlying fundamental disability in Rett Syndrome was not. This meant Rett Syndrome could be treated and was a very important realisation. I let some pertinent people know this information. Subsequently, Doctor Adrian Bird was provided funding to perform research to confirm if this was indeed so. Which of course it was confirmed. (I do not advise such things, if I am not absolutely certain).

Unfortunately, there wasn’t communication with me regarding this study and naturally there was much excitement that Rett Syndrome was proven treatable, but there were pertinent issues I was aware of, that needed taking into consideration.
Although it is still maintained that the majority of cases of Rett Syndrome are random, they in fact are not. Understandably though, until they are proven to be non-random, they will continue to be classified as such. The study by Doctor Bird showed, in effect, that a mouse could be given a mecp2 error, and accordingly display symptoms of Rett Syndrome, undo the mecp2 error and the mice improved. This was an excellent piece of research, but there was a crucial factor missing. The mice hadn’t incurred a mecp2 error in the manner that humans do. So, I did my best to explain at the time, that a healthy person could, in theory, be given a mecp2 error in the same way the mouse had, that person would then show symptoms of Rett Syndrome accordingly and would also return to former functioning once the error was resolved. The problem though, as with the mouse, the healthy person didn’t have the components that *cause* a mecp2 error.
In my family, we can see a course, (and keep in mind there a number of ways for mecp2 errors (and types) to occur) neither of my parents had a mecp2 error, I have a mecp2 error and my sister does not. My sister has two children, one has a mecp2 error and the other does not. My son has a mecp2 error, the same as mine, and because I have the error and manifest the symptoms of Rett Syndrome, all my children would also have Rett Syndrome. Other families have different courses and there are those families with similar courses to ours. My sister didn’t have a mecp2 error but she did inherit the components to cause a mecp2 error and most importantly not in ‘all’ her children. By now, there are those few families initially thought to have a random mecp2 error and another family member years later, has come along and been found to have a mecp2 error. The genetics involving mecp2 errors is very complex and varied. Because of this fact, having a relative with Rett Syndrome is no reason to decide to not have a child. There is no guarantee that the genetic components that cause Rett Syndrome will be inherited. My family has an important contribution to make to the field of Rett Syndrome in more ways than one.

A pregnancy, all going well, is a new person, and due to the manner in which genetics operate, each and every one of us has never been before and will never be again. If it wasn’t this way, we would be in all sorts of trouble. Siblings will have similarities of course, but in the case of a miscarriage, sadly, this is a person who will not ever be, their genome will not exist nor contribute to the ‘gene pool’ which is tragic when considering this.

To the conversation of diversity, I hope to continue this subject in greater detail, in another post, another day, but diversity is essential to a healthy species, whether koalas or humans, whatever the species. It is why cloning has limited potential, we have genetic material that is ‘one time use only’ type format. Identical twins have genetic material that is not identical at the molecular level because despite sharing a single egg, genetics allowed for this and ensured that molecular genetic material is still unique to a single individual, which is how identical twins can have differing outcomes when sharing some and same genetic errors. TBC.

By Fiona MacLeod©