Rett Syndrome

In the past we have had a few comments on our blog and YouTube channel asking for more information about Rett Syndrome so we decided to put together the basics of what we know about it!

Rett Syndrome is a rare genetic disorder caused by a mutation in the MECP2 gene found on the X chromosome which is why it occurs mainly in girls. There is no cure for Rett Syndrome and it results in severe mental and physical disability. It was first discovered in 1966 by Austrian doctor Andreas Rett and affects 1 in 12,000 girls born each year.

The disorder has been broken down into four stages that span across a lifetime each with different signs and symptoms. The first stage is a period of normal development that begins at birth and lasts at least 6 months – for Connie, this stage lasted around 18 – 24 months . There are some signs during this period but they are hard to notice and are often missed. Things like low muscle tone, unusual hand movements, lack of interest in toys.

Stage 2 is more commonly known as the “regression” stage and is the period of fast destruction with the child starting to lose some of their abilities. Severe problems can start to develop with communication and language, co-ordination, hand use and mobility. For Connie, it was around the age of 2 that this stage happened and we just saw a loss of everything that she was able to do – her talking, walking, playing etc. For those that know Connie now, you know that she can talk and walk so didn’t lose any skills fully but she did revert right back to not being able to do things properly.

The “plateau” is the third stage and is the stage that we are currently in with Connie we think. It can last for many years and a lot of Rett girls stay in this stage for most of their lives. Things become steady in this stage but other symptoms such as seizures, irregular breathing problems and teeth grinding can start to happen. Again, for those that read our blog regularly you will know that over the past year we have started to experience seizures and breathing problems (especially at night). It feels as though we are in another regression period at the moment. It can also be difficult during this period to gain and maintain weight and we definitely know a lot about this!

Stage 4 is known as the “deterioration” period and again can last for a number of years. With Rett Syndrome only being discovered in the 60’s it does mean that there are a lot of unknown answers with this stage as people are still experiencing it / still to experience it. Common features of this stage are developing a spinal curve, muscle weakness and losing the ability to walk. Things such as language and brain functions seem to stay at the same level. With Connie seeming to be in stage 3 currently, we don’t have any experience of this stage and with every Rett girl being different it is hard to know if/when this will ever affect her.

One of the most interesting things we have found is that research has shown that Rett girls know and understand a lot more than they are able to show and when we think about Connie we can kind of see this. Quite often there are times when it seems that Connie is trying to tell us something or say something but she just can’t get it out … it’s not nice to see her so frustrated so we do all that we can to help her get her point across whether it is using visual aids or little bits of sign language.

We know this post has been crammed full with information but hope that it has been useful and has given an insight into what Rett Syndrome actually us. We have also written a post about Hands: Connie’s Tell Tale Sign of Rett. We have linked a few websites below that go into a bit more depth if anyone would like to know more. Please don’t forget to subscribe to our blog to keep updated with all our posts and let us know if there are any other topics you would like us to write about!


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