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.


{ 7 comments… read them below or add one }

Aleksandra Djukic, Director of the Rett center at Montefior,NY July 10, 2011 at 5:29 am

You are not alone.
We are all pieces of the same puzzle, regardless where in the World we live.

To demonstrate our unity and increase public awareness we are planning the multisite event which will be held in many countries around the world, the same day (Oct 15) and same time.

I hope “our” girls from South Africa will joinus and unite their voices with ours . We will be better heard than.


kim September 8, 2011 at 3:40 pm

Hi Leksanda

Unfortunately we are unable to hold rett day on the 15th this year.

We are creating a small fundraiser and event on the 29th October. Please see my link

My family and friends are really looking forward to it.

We also plan on doing several other events to get awareness out there as here in Sunny South Africa people seem to think they are the only ones. I have already managed to find 4 other girls in my immediate area as well as a few others in other provinces.



Sandy July 10, 2011 at 11:58 am

Perfect timing. We are working on something for October in the Northern Suburbs of Cape Town. Just hadn’t decided on an actual date.

Also working on some articles for children/parent magazines for the same month.


Zan January 12, 2014 at 6:30 am

Hope our angles have a nice year in 2014


Bill Callaghan March 15, 2014 at 3:33 am

Dear All,

Overdue but just wanted to introduce our Association, namely, the Rett Syndrome Association of Australia, of which I am President. We celebrate our 25th anniversary in July.

Best wishes,

Bill Callaghan


Debbie Schoenfeld May 25, 2014 at 12:28 pm

Hi Bill,
My name is Debbie Schoenfeld, we have met before in Perth, Australia. ..I am trying to contact you to tell you our very sad news and that is: Our darling daughter, Joanne (our Rett Angel) passed away on 17/05/2014 after contracting a severe bout of aspirated pneumonia. She was 38years old.


Sandy May 25, 2014 at 5:21 pm

Hi Debbie,

Our heartfelt condolences to you and your family. May your daughter fly high and free.

I will forward your mail to Bill.

All the best



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