Rett Syndrome and Mecp2 Duplication Syndrome – Thursday 27th June 2024

Rett Syndrome and Mecp2 Duplication Syndrome – Thursday 27th June 2024

On Sunday just past, I learnt of Mecp2 Duplication Syndrome. I also learnt that it was given this label in 2005 I believe. I was actually quite shocked and somewhat hurt that it was the first I’d heard of it.

Back in 1997, I realized that Autism didn’t cover the gammut of issues affecting my family and the only thing to do was to search.

That’s when I found Rett Syndrome. 

I had all the criteria, but with less severity.

My son, for example, after receiving the Autism diagnosis, continued to regress and lost his ability to drink which was followed next by eating problems.

He remastered fluids using always a straw. The eating took years. But he did recover those skills with time and persistence, so my son also had less severity, but I knew with certainty Rett Syndrome or variant form, was what we were dealing with, but there were no known cases like ours and that meant the only thing to do was to work out how we had RS in this way.

And I did.

The Mecp2 gene was discovered shortly after and I sent my blood to the Hoffman lab in USA along with many others on the Rettnet. I didn’t have a classic mutation and this made sense. I learnt about deletions and duplications and knew that I had to have one of those and leant towards a duplication.

I took steps to get the different type of molecular testing required to look for those type of errors. 

Because there weren’t any known cases of RS like ours, medical people had difficulty accepting someone who was not only communicating to them, but also telling them what Mecp2 error to look for. In any event, we were found to have a duplication.

I determined back then that there would be boys found with Mecp2 errors, and it seemed to me that deletions and duplications would be the likely error type. And so I have just discovered that a group have indeed subsequently been identified.

It’s to be expected that boys would have a differing pattern of ailments related to Mecp2 than girls, as boys are different. There are shared milestones but also development unique to boys and then the development that is unique to each individual, be they girl or boy. And these aspects are all pertinent when dealing with a Mecp2 error.

I have always felt that Rett Syndrome and Rett Disorder was the ideal, being associated and inclusive, but I see that the duplication group have been given a separate identity from Rett.

I don’t know that I agree with that. In all disorders girls often have different issues than boys, but they aren’t a separate disability from one another.

I realize that the medical field thinks that duplication needs to be separate, but is that the case for other disabilities with an identified gene? Do they also segregate people with duplications from the main group?

The argument is that duplications cause an over expression, but that isn’t quite correct.

You can only pour so much water into a glass for one, and secondly, when regression occurs this is due to a stop, not an overflow. Much like two people trying to get through a door together, they jam the entry. Trisomy is a much worse jam, through regressions and in-between.

Classic mutations cause a muddle which results in a stop and between regressions, there is anomalies. Duplications between regressions also have anomalies. But the function of Mecp2 is the same for all, therefore people with duplications with disability, are experiencing very much what every other person is with a Mecp2 disability, whether syndromic, or it be one or so issues only, the core of their deficit or handicap, is of the same unique basis.

Fiona MacLeod (C)