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
It became known
worldwide following a
paper by Dr Bengt
Hagberg & colleagues
in 1983
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
Shakiness of torso, which could involve
limbs, particularly if agitated or upset
If walking, unsteady, wide-based, stifflegged 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?
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
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?
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
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
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
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 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
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
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