Rett Syndrome


Rett Syndrome in South Africa


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 10 to 10 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.



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 Rett Syndrome disorder was only discovered during 1966 and it is now believed that many young girls were and 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 technology.

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 Rett’s Angels around the world including your own daughter or relative. To donate please go to The Rett Syndrome Research Trust (USA) or Just Giving for Rett Research (UK).  Alternatively, you can make a donation by completing the Donation form at the top right hand side of this page.

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




Rett Syndrome symptoms are often misdiagnosed

Rett  Angels develop completely normally for a period of time although they might reach their various developmental milestones a little late. The onset and severity of symptoms varies quite widely.

  • From the age of 6 to 18 months neurological development slows down and they might not gain any new skills. This can continue up until the age of 4 years.
  • In some cases starting as early as 9 months, regression sets in and the children begin to lose those skills that they had already attained.
  • Normal speech is lost, though they are still able to make sounds such as laughing and crying.
  • They will usually begin to wring or flap their hands and will lose fine motor co-ordination.
  • Walking becomes more difficult and unsteady and in some cases could be lost altogether.
  • These children often hyperventilate and develop other breathing problems such as breath holding.
  • They are likely to have panic attacks and fits of screaming or long bouts of crying though there is plenty of laughing as well.
  • They become stressed, fearful and over-excited easily which usually leads to periods when their entire body becomes shaky.
  • Rett children may show little interest in what is happening around them and avoid eye contact and social interaction with others
  • Seizures often develop
  • Scoliosis usually occurs, though those children who are able to continue walking have a lesser problem

The only way for a true diagnosis of Rett Syndrome is via a blood test during which DNA testing is done in order to look for a mutation within the MeCP2 gene, unfortunately though it can take up to 3 months for the result to become available.

Do remember though that whilst they may lose the function of some parts of their bodies, the mind of a Rett Syndrome angel is likely to be perfectly normal.


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