Supporting those with Rett syndrome

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A vital source of support for families of children with this serious genetic condition

Rett syndrome was first identified in 1966 by Dr Andreas Rett. Despite this, many people still do not know of its existence, even though it is the most common genetic cause of profound and multiple learning disability in females.

Rett syndrome is caused by a genetic mutation in the gene MECP2, which is on the X chromosome (hence it is predominantly females who are affected). There are, however, five boys in the UK who are currently known to have the condition. Of the entire population, one in ten thousand people are estimated to have Rett syndrome.

Whilst not every child diagnosed will experience exactly the same symptoms, the following are common:

  • breathing irregularities, such as hyperventilation, breath holding and air swallowing
  • communication difficulties. It is estimated that 95 per cent of people with the condition are unable to speak
  • mobility problems (a wide, unsteady gait, with many not being able to walk)
  • scoliosis (curvature of the spine)
  • feeding difficulties, including swallowing, reflux and aspiration
  • epilepsy
  • joint contractures, particularly in the feet and hands
  • screaming episodes.

From Left to right: Rita, Frankie, Gavin and Cameron Ross.In the past, diagnosis was normally made clinically (i.e. through observation). Today, though, a blood test, which tests for the MECP2 variation, is common. Diagnosis is generally not made until the child is around nine to eighteen months old, when the development of the child slows, stops and then regresses. For parents, this can be a frightening time, especially if they do not understand why is has happened. Below, a mother tells her daughter’s story.

Frankie’s story
Frankie (Francesca) was born on 10 May 2005 and our whole world was complete. We were so excited to have a baby girl to complete our family…Frankie started having some odd jerking movements which turned out to be infantile spasms…We spent the next three years looking for answers as to what could be wrong with our little girl. The answer came when we got the Rett syndrome diagnosis in August 2008, and no words can describe the pain we felt.

“My sister managed to find out about an Association, which turned out to be the RSAUK (Rett Syndrome Association UK), and for the first time we felt we were not alone in this. The RSAUK gave us great information about what Rett syndrome is, what we could expect, and we also found out about the progress that was being made into finding a cure, which gave us hope for the future….We’ve attended the Family Weekend that RSAUK organise, which enabled us to make friends with people in the same situation and who truly understand how we feel.

“Another key part of the support offered to us has been the ability to attend clinics especially for children with Rett syndrome, where we were able to speak to specialists in the field, as well as speech therapists and occupational therapists. They also provided us with a report with areas where we could help Frankie’s development.

“All in all it has been a roller coaster ride with lots of highs as well as lows.  Without the help of RSAUK I don’t know where we would be. Our hope for the future is that we will find a cure for Rett syndrome and stop the suffering of people with the condition and their families.”
Rita Ross, Frankie’s Mum

Further information

For more information about Rett syndrome and the support RSAUK provide, visit:
www.rettsyndrome.org.uk

Article first published in SEN Magazine issue 45: March/April 2010.

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