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Rett Syndrome And. My Sister Antoinette. By Sarah Rodgers. What is Rett Syndrome?. Rett Syndrome is a neurological disorder which is also genetic It was first discovered by a Swedish doctor, Doctor Andreas Rett

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rett syndrome and

Rett SyndromeAnd

My Sister Antoinette

By Sarah Rodgers

what is rett syndrome
What is Rett Syndrome?
  • Rett Syndrome is a neurological disorder which is also genetic
  • It was first discovered by a Swedish doctor, Doctor Andreas Rett
  • It became known worldwide following a paper by Dr Bengt Hagberg & colleagues in 1983
symptoms of rett syndrome
Symptoms of Rett Syndrome
  • Period of apparently normal development until between 6-18 months
  • Severely impaired expressive language, loss of hand skills, which combined make assessment of receptive language & intelligence difficult
  • Repetitive hand movements i.e. washing, wringing, clapping, tapping, mouthing or finger manipulation
  • Also very pretty and have beautiful smiles
symptoms of rett syndrome continued
Symptoms of Rett Syndrome continued
  • Shakiness of torso, which could involve limbs, particularly if agitated or upset
  • If walking, unsteady, wide-based, stiff-legged gait/toe walking
  • Breathing dysfunctions i.e. apnea, breath holding, hyperventilation or air swallowing which may result in abdominal bloating & distention
  • Eeg abnormalities, seizures, growth retardation, teeth grinding, incontinence, scoliosis (curvature of the spine)
who does it affect and why
Who does it affect and why?
  • Seen almost exclusively in females in a variety of racial and ethnic groups worldwide
  • 1 boy was known but died before his 1st birthday. This was how the gene for Rett Syndrome was found
  • Mutation of the second x chromosome, some girls with suspected Rett have been tested for this gene
the different types of rett syndrome
The different types of Rett Syndrome
  • Classic Rett – those who meet diagnostic criteria guidelines
  • Provisional – age 1-3 with some clinical evidence of Rett but not enough to meet diagnostic criteria
  • Atypical Rett – those who don’t meet all diagnostic criteria for classic Rett. Diagnosis of typical Rett must include at least 3 of the primary criteria and 5 supportive. Atypical cases account for about 15% of the total diagnosed
can they lead a normal life
Can they lead a normal life?
  • At this stage no, although there has been a breakthrough in medical research which may result in helping the girls walk for those that can’t walk.
impact on family life
Impact on family life
  • Rett Syndrome has a huge impact on family life because it’s like having a 6 mth old baby at home all the time.
  • Home help is available to assist with things like showering in the morning and giving breakfast and then again at night with feeding her tea and getting her ready for bed during the week.
about antoinette
About Antoinette
  • My sister Antoinette was diagnosed at 2 and a half with Rett Syndrome
  • She was one of the youngest girls to be diagnosed with it
  • She loves music which helps keep her happy. If she doesn’t like it she lets you know
  • Among her favourites you will find Barney, Teletubbies and Hi 5
antoinette school and camp
Antoinette, school and camp
  • While at school Antoinette goes to camp at Living Springs and is away from home for a couple of nights
  • She started school at 5 at Wairakei and is now 18 and is at Ferndale
  • At school she does music therapy, physio, swimming, woodwork, art, shopping trips to the mall and even to cafes.
antoinette and guiding
Antoinette and guiding
  • Antoinette went to Pippins at 6 yrs, then flew up to Brownies
  • At Brownies she went on camps, biscuit selling and other fun activities for badges
  • At 13 yrs she linked up to Guides where it was even more fun with more badges
antoinette s first formal
Antoinette’s first formal
  • In 2005 she had her first school formal
  • She won the best dressed female competition
  • It was right up her league as she is quite the wee social bunny
  • She looked absolutely gorgeous and had a wonderful night - lots of boyfriends in tow
thank you for watching
Thank you for watching

Another name for these girls is Silent Angels

For any further information on Rett Syndrome you can visit the website on:

If you wish to donate to the organisation you will be able to find this also on the website

Refs: The Rett Syndrome Handbook by Kathy Hunter founder & President International Rett Syndrome Association and fellow families everywhere

Refs: What is Rett Syndrome? Brochure from International Rett Syndrome Association