Rett Syndrome And

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Rett SyndromeAnd

• My Sister Antoinette

By Sarah Rodgers
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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

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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

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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)

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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

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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 dont 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

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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 cant
  walk.

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Impact on family life

• Rett Syndrome has a huge impact on family life
  because its 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.

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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 doesnt like it she lets you know
• Among her favourites you will find Barney,
  Teletubbies and Hi 5

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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.

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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

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Antoinettes 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

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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 www.rettsyndrome.org
• 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