Rett SyndromeRett SyndromeAndAnd

My Sister AntoinetteMy Sister Antoinette

By Sarah Rodgers

What is Rett Syndrome?What is Rett Syndrome?

Rett Syndrome is a Rett Syndrome is a neurological disorder neurological disorder which is also geneticwhich is also geneticIt was first discovered It was first discovered by a Swedish doctor, by a Swedish doctor, Doctor Andreas RettDoctor Andreas RettIt became known It became known worldwide following a worldwide following a paper by Dr Bengt paper by Dr Bengt Hagberg & colleagues Hagberg & colleagues in 1983in 1983

Symptoms of Rett SyndromeSymptoms of Rett SyndromePeriod of apparently normal development Period of apparently normal development until between 6-18 monthsuntil between 6-18 monthsSeverely impaired expressive language, Severely impaired expressive language, loss of hand skills, which combined make loss of hand skills, which combined make assessment of receptive language & assessment of receptive language & intelligence difficultintelligence difficultRepetitive hand movements i.e. washing, Repetitive hand movements i.e. washing, wringing, clapping, tapping, mouthing or wringing, clapping, tapping, mouthing or finger manipulationfinger manipulationAlso very pretty and have beautiful smilesAlso very pretty and have beautiful smiles

Symptoms of Rett Syndrome Symptoms of Rett Syndrome continuedcontinued

Shakiness of torso, which could involve Shakiness of torso, which could involve limbs, particularly if agitated or upsetlimbs, particularly if agitated or upsetIf walking, unsteady, wide-based, stiff-If walking, unsteady, wide-based, stiff-legged gait/toe walkinglegged gait/toe walkingBreathing dysfunctions i.e. apnea, breath Breathing dysfunctions i.e. apnea, breath holding, hyperventilation or air swallowing holding, hyperventilation or air swallowing which may result in abdominal bloating & which may result in abdominal bloating & distentiondistentionEeg abnormalities, seizures, growth Eeg abnormalities, seizures, growth retardation, teeth grinding, incontinence, retardation, teeth grinding, incontinence, scoliosis (curvature of the spine)scoliosis (curvature of the spine)

Who does it affect and why?Who does it affect and why?Seen almost exclusively in Seen almost exclusively in females in a variety of females in a variety of racial and ethnic groups racial and ethnic groups worldwideworldwide1 boy was known but died 1 boy was known but died before his 1before his 1stst birthday. This birthday. This was how the gene for Rett was how the gene for Rett Syndrome was foundSyndrome was foundMutation of the second x Mutation of the second x chromosome, some girls chromosome, some girls with suspected Rett have with suspected Rett have been tested for this genebeen tested for this gene

The different types of Rett The different types of Rett SyndromeSyndrome

Classic RettClassic Rett – those who meet diagnostic criteria – those who meet diagnostic criteria guidelinesguidelinesProvisionalProvisional – age 1-3 with some clinical evidence of Rett – age 1-3 with some clinical evidence of Rett but not enough to meet diagnostic criteriabut not enough to meet diagnostic criteriaAtypical RettAtypical Rett – those who don’t meet all diagnostic criteria – those who don’t meet all diagnostic criteria for classic Rett. Diagnosis of typical Rett must include at for classic Rett. Diagnosis of typical Rett must include at least 3 of the primary criteria and 5 supportive. Atypical least 3 of the primary criteria and 5 supportive. Atypical cases account for about 15% of the total diagnosedcases account for about 15% of the total diagnosed

Can they lead a normal life?Can they lead a normal life?At this stage no, At this stage no, although there has although there has been a been a breakthrough in breakthrough in medical research medical research which may result in which may result in helping the girls helping the girls walk for those that walk for those that can’t walk.can’t walk.

Impact on family lifeImpact on family lifeRett Syndrome has a huge impact on Rett Syndrome has a huge impact on family life because it’s like having a 6 family life because it’s like having a 6 mth old baby at home all the time.mth old baby at home all the time.Home help is available to assist with Home help is available to assist with things like showering in the morning things like showering in the morning and giving breakfast and then again and giving breakfast and then again at night with feeding her tea and at night with feeding her tea and getting her ready for bed during the getting her ready for bed during the week.week.

About AntoinetteAbout AntoinetteMy sister Antoinette My sister Antoinette was diagnosed at 2 was diagnosed at 2 and a half with Rett and a half with Rett SyndromeSyndromeShe was one of the She was one of the youngest girls to be youngest girls to be diagnosed with itdiagnosed with itShe loves music which She loves music which helps keep her happy. helps keep her happy. If she doesn’t like it If she doesn’t like it she lets you knowshe lets you knowAmong her favourites Among her favourites you will find Barney, you will find Barney, Teletubbies and Hi 5Teletubbies and Hi 5

Antoinette, school and campAntoinette, school and campWhile at school Antoinette While at school Antoinette goes to camp at Living goes to camp at Living Springs and is away from Springs and is away from home for a couple of nightshome for a couple of nightsShe started school at 5 at She started school at 5 at Wairakei and is now 18 Wairakei and is now 18 and is at Ferndaleand is at FerndaleAt school she does music At school she does music therapy, physio, therapy, physio, swimming, woodwork, art, swimming, woodwork, art, shopping trips to the mall shopping trips to the mall and even to cafes.and even to cafes.

Antoinette and guidingAntoinette and guiding

Antoinette went to Antoinette went to Pippins at 6 yrs, then Pippins at 6 yrs, then flew up to Browniesflew up to Brownies

At Brownies she went At Brownies she went on camps, biscuit on camps, biscuit selling and other fun selling and other fun activities for badgesactivities for badges

At 13 yrs she linked up At 13 yrs she linked up to Guides where it was to Guides where it was even more fun with even more fun with more badgesmore badges

Antoinette’s first formalAntoinette’s first formalIn 2005 she had her In 2005 she had her first school formalfirst school formalShe won the best She won the best dressed female dressed female competitioncompetitionIt was right up her It was right up her league as she is quite league as she is quite the wee social bunnythe wee social bunnyShe looked absolutely She looked absolutely gorgeous and had a gorgeous and had a wonderful night - lots wonderful night - lots of boyfriends in towof boyfriends in tow

Thank you for watchingThank you for watching

Another name for these girls is Silent AngelsAnother name for these girls is Silent AngelsFor any further information on Rett Syndrome you For any further information on Rett Syndrome you can visit the website on: can visit the website on: www.rettsyndrome.orgwww.rettsyndrome.orgIf you wish to donate to the organisation you will If you wish to donate to the organisation you will be able to find this also on the websitebe able to find this also on the websiteRefs: The Rett Syndrome Handbook by Kathy Refs: The Rett Syndrome Handbook by Kathy Hunter founder & President International Rett Hunter founder & President International Rett Syndrome Association and fellow families Syndrome Association and fellow families everywhereeverywhereRefs: What is Rett Syndrome? Brochure from Refs: What is Rett Syndrome? Brochure from International Rett Syndrome AssociationInternational Rett Syndrome Association