RETT SYNDROME

Rett Syndrome in South Africa

This, the first post for the Rett Syndrome South Africa website is likely to be old news for some of you. Yet, for many of us, especially the parents of newly diagnosed Rett Syndrome Angels the information provided is new and perhaps even heartbreaking.

To those parents learning about Rett Syndrome for the first time, take heart, you are not alone.

Rett Syndrome is a debilitating neuro-developmental disorder that affects approximately 1 in every 15 thousand girls. It does affect a few boys but this is extremely rare and unfortunately in most instances they don’t usually survive to term.

Boys have one X chromosome and girls have two. This second X chromosome is what helps girls survive to the age of 50 and beyond, though they will require life-long assistance.

Where Rett Syndrome is concerned there is a mutation of the MeCP2 gene which manages 100′s if not 1000′s of other genes. The MeCP2 gene is needed for the ongoing healthy function of the brain and the physical body.

VIDEO: SOLVING RETT SYNDROME

To date more than 200 Rett Syndrome classifications have been identified and are classified by number. The most common of these classifications are R270x, T158M, R106W, R294X, R133C, R168X, R255X, A140V, R306C.

In South Africa when being provided with the diagnosis you may be given a number such as “p.Thr158Met” This is the mutated gene and would translate to read as “T158M”.

The disorder was only discovered during 1966 and it is now believed that many young girls were (and perhaps still are) misdiagnosed as being Autistic or having Cerebral Palsy as well as other similar afflictions such as Parkinson’s disease.

It was also assumed that all Rett Syndrome girls were mentally retarded or brain damaged simply because they were unable to communicate. In light of more recent discoveries it would seem that this is not the case and that most of these angels have perfectly functioning brains in-so-far as intelligence is concerned. It is just their bodies that don’t function correctly.

With a little assistance many of our Rett Syndrome Angels are in fact able to communicate with the help of an Apple iPad which is also fast becoming the favorite choice of communication for autistic children.

Rett Angels suffer from a variety of physical problems and each of these needs to be treated separately and not as a single affliction.
Although as yet there is no cure for Rett in humans, rapid progress is being made via private funding both in the USA and the UK and research has already proved that Rett Syndrome in mice can be reversed.

Your assistance is needed to help fund a cure for Retts Angels around the world including your own daughter or relative. To donate please go to http://www.rsrt.org/curing-Rett/ (USA) or http://www.justgiving.com/rettresearch/donate. (UK)

We need to stand united with the rest of the world in an effort to find the final cure for Rett Syndrome