Rett Syndrome Ireland

What is Rett's

Imagine the symptoms of; Autism, Cerebral Palsey, Parkinson's, Epilepsy and Anxiety disorders all rolled into one little girl.

Now imagine the pain of seeing your beautiful baby girl slowly slipping away before your very eyes.

Amelie Kiki June 2011 at 9 months old

Rett syndrome is a rare neurodevelopmental disorder resulting in physical and intellectual disability. It affects girls almost exclusively - affecting one in ten thousand births - but there are rare cases of boys with Rett Syndrome. Everyone affected is severely and multiply disabled.
It is characterised by normal early development followed a period of regression where skills are lost.

In October 2011 when Amelie was 13months old, we started to notice a change in her behaviour. Bighting her hands and anger issues.

However, Rett Syndrome is not a degenerative condition. Lifelong learning is possible, though difficult. Rett Syndrome is usually diagnosed with a genetic test (based on a blood test) as well as through clinical diagnosis.

Rett Syndrome is caused in most cases by a random mutation or alteration of the MECP2 gene on the X chromosome. It is usually spontaneous and rarely inherited.

Miss Kiki May 2012 at 20 months old trying her best to stand

Features Of Rett Syndrome
As with any condition there is a large amount of variation in people with Rett Syndrome. However some characteristics can be identified:

  1. Children will demonstrate an apparently normal rate of development up to the age of 20 to 30 months.
  2. This is followed by a regression period where motor and communication skills that have been acquired degenerate or are lost completly.
  3. Apraxia or dyspraxia - the ability of the body to perform motor functions - lead to a loss of verbal skills and hand function.
  4. Some lose the ability to walk.
  5. Stiff or clumsy posture and gait 
  6. Disorganised breathing patterns.
  7. Seizures occur in many.
  8. Scoliosis (curvature of the spine) often with early onset.
  9. Repetitive and stereotypical hand movements such as hand wringing or hand-mouthing
Rett Syndrome is often mis-diagnosed as autism, cerebral palsy or generalised developmental delay.

Will she lose these skills? Who knows.

There is no treatment for Rett's.

However all hope is not lost, Rett's Syndrome has the potential to be the first curable brain disorder but as there is no government funding all research is paid for by private funding.

Please help save our girls.

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