)TlS ONE OF THE MOST FREQUENTLY OCCURRING BIRTH DEFECTS AND THE MOST COMMON GENETIC REASON FOR MENTAL RETARDATION 3O WHAT IS $OWN SYNDROME AND HOW DO PARENTS COPE INE MONTHS WAITING AND THEN COMES
throughout history,’ explains Dr Lynn Banna, a
THE SPECIAL DAY 4HE DAY YOUR BABY IS
consultant paediatrician who works in both
the first “screening test� for foetal chromosome
BORN THE DAY A NEW LIFE COMES INTO
Historically, maternal age can be viewed as
private and public settings in Newcastle, NSW.
abnormalities because the risk of having a child
the world, the day you’ve been waiting for. But
‘While we don’t know why it happens we do know
with Down syndrome increases with age. For a
what if your baby has Down syndrome?
that there is nothing that can be done prior to or
25-year-old woman the risk is one in 1,300, for
during pregnancy to prevent it.’
a 35-year-old it is one in 365 and for a 45-year-old
‘I wouldn’t be without her and I wouldn’t have
it is one in 30. This is, of course, variable – people
it any other way,’ says Melissa Cotterwill, 37, of her three-year-old daughter, Alyssa. ‘She means
HEALTH & DOWN SYNDROME
the world to me and Down syndrome is such a
Children with Down syndrome are more likely
small part of who Alyssa is. She is a person first
to experience health and medical problems.
skin at the back of a baby’s neck, called nuchal
and foremost and I just love her to bits.’
Some that may occur include:
translucency, can be measured at eight to 15
s Forty to 50 percent will have a congenital heart
weeks gestation by using an ultrasound. All
800 births and 40 to 50 percent of these babies
defect. Today surgery is usually performed in the
babies have this fluid but a child with Down
will have a congenital heart defect. All will have
first months after birth if it is a complex problem,
syndrome will have more of it. Next, the maternal
intellectual disabilities and developmental delays
which has played a huge part in prolonging the
“triple test� serum screening can be performed
– though this can vary from mild to severe.
life expectancy of a person with Down syndrome
at around 15 to 18 weeks gestation and involves
(in 1983 life expectancy was 25 years; now it is 55).
a blood test for serum markers.
Down syndrome affects about one in every
age at different rates. In addition, a collection of fluid under the
WHAT IS DOWN SYNDROME?
s Eyesight and hearing problems are common.
Down syndrome is one of the most frequently
Fifty to 75 percent of children will experience
the chromosome abnormality) is calculated
occurring birth defects and is the most common
middle ear infections (in particular, glue ear).
on the basis of each of the serum marker results
genetic reason for mental retardation. It is a
Hearing loss also occurs in 75 percent of cases.
and the patient’s age,’ explains Dr Banna.
condition that causes delays in the way a child
Occasionally small, white patches called
develops, both mentally and physically, because
Brushfield spots can be seen on the edges of the
DEFINITIVE PRENATAL DIAGNOSIS
of extra genetic material.
eyes – but these are not harmful.
This is a diagnosis of trisomy 21 and requires
s Obstructive sleep apnoea occurs in 50 to 75
cytogenetic analysis of cells obtained in a number
inherits 46 chromosomes from its parents (23
percent of cases.
of ways. The Chorionic Villus Sampling (CVS) test
from the mum and 23 from the dad). In around
s Children are more prone to colds, infections,
is done at 10 to 12 weeks gestation and involves
95 percent of cases of Down syndrome, a child
inflammation of the eyes and skin rashes.
taking a sample of cells from the placenta, while
gets an extra chromosome 21 – a total of 47
s Thyroid disease occurs in 15 percent of cases.
early amniocentesis (amnio) is performed at 12
chromosomes instead of 46. Translocation
s A baby may have poor muscle tone (known as
to 15 weeks and second trimester amniocentesis
(which refers to the rearranged chromosome
hypertonia). Muscles can be strengthened with
at 15 to 20 weeks. An amnio is a test where a
material) and mosaicism (when a person has
exercise and body movement.
sample of amniotic fluid (the fluid in which the
Normally, at the time of conception, a baby
Most cases of Down syndrome result from
PRENATAL TESTING
is between one in 500 and one in 300 from an
Though Down syndrome can’t be prevented, it
amnio, it’s about one in 100 for CVS.
gamete cell division and are not inherited, but
can be detected before a child is born. ‘Prenatal
a small percentage of children do inherit the
testing, once limited to women considered “high
IT’S POSITIVE‌ NOW WHAT?
chromosomal defect from one of the parents,
risk�, is increasingly a routine part of all pregnant
If diagnostic testing reveals Down syndrome,
and there is no way to correct the chromosomal
women’s antenatal care. Hundreds of genetic
parents should be provided with information on
error that occurs. ‘Incidences of Down syndrome
conditions can currently be identified through
the disability as well as assistance in deciding on
have been found in every race and social class
prenatal diagnosis,’ says Dr Banna.
the course of action they would like to take. The
78
my child
PHOTOGRAPHY PHOTOLIBRARY
baby floats) is taken. While the miscarriage rate
more than one type of chromosomal makeup) account for the other five percent.
‘The likelihood of trisomy 21 (the term for
pregnancy WORDS TATYANA LEONOV
my child 79
options include continuing the pregnancy and
what happened. By the time of Joel’s birth we’d
bringing up the child, continuing the pregnancy
accepted the diagnosis and moved on, as had our
and giving the child up for adoption or choosing
families and friends. He was welcomed with so
to terminate the pregnancy. Between 80 to 90
much excitement. It was wonderful.’
percent of women who are given a diagnosis of Down syndrome choose to have an abortion. Consultation with both counsellors and
Most children with Down syndrome live fulfilling lives, and are generally healthy and active. They have certain physical attributes like
medical practitioners is important so a decision
slanted eyes, shorter arms, legs, fingers and toes,
is made with accurate information and in the
and a smaller, flatter nose, but they also have the
right state of mind. If the decision is made to go
physical attributes of their parents. ‘Joel refuses
ahead with the pregnancy, parents need to be
to be defined by his syndrome. It is a part of who
put in contact with support groups.
he is but it does not embody him,’ says Siobhan.
Dr Banna explains: ‘I believe that a positive
And, of course, life can sometimes be a
outlook should be encouraged, recognising that
challenge for her. Children with Down syndrome
improvements in medical care, early intervention,
develop at a slower pace and require extra help.
special education and vocational counselling
‘The frustrating aspect of this is that we endure
have enabled persons with Down syndrome to
the challenging habits and stages of childhood
lead lives of dignity, meaning and independence.
for longer. However, on the positive side, we
Prenatal testing promotes an emphasis on
enjoy the delightful habits and stages for longer
“reassurance”, “choice” and “control”.’
too,’ she says.
WHAT’S LIFE WITH A DOWN SYNDROME CHILD LIKE?
in different ways. For Melissa it was knowledge
One mother who chose not to seek out any early
her daughter, Alyssa, more. ‘I learned not to worry
screening or testing procedures, and to just have
about the milestone delays or compare her to a
the routine ultrasound halfway through her
typical developing baby,’ she says. And she got
pregnancy, is Siobhan Beavis, 35, mum to five-
everyone involved: ‘Our immediate family and
year-old Joel. ‘It was at this point that indicators
close friends (close to 35 people) all attended a
of Down syndrome were found,’ she says.
sign language course at my place recently to learn
Every parent and child copes and interacts
For Siobhan the heart defect prognosis was
about the condition that helped her understand
how to use signing so they could communicate
of more importance. She says, ‘We didn’t know if
effectively with Alyssa,’ she says. ‘Her hearing is
we would even get to the stage of having to face
100 percent but we still use the signing when we
Down syndrome as we did not know if the heart
talk to her so she can communicate back to us.
complications were survivable. In hindsight this
Once the acquisition of speech has been achieved
actually helped us develop perspective.’
the signing will drop away automatically.’
After seeing a specialist and learning that the heart condition, although serious, was treatable,
EARLY INTERVENTION PROGRAMS
Siobhan felt great relief. ‘Knowing our baby was
Children with Down syndrome develop at a
not going to die made Down syndrome feel like it
slower rate but there are many ways in which
wasn’t such a big deal in comparison,’ she says.
parents can provide encouragement to help them
It was at this point that she decided to go
reach their potential, including through early
ahead with amniocentesis to confirm that the
intervention programs available from specialists
baby definitely had the disorder. ‘I had never
and health care professionals, including special
thought I would have an amnio but I didn’t want
educators, occupational therapists, speech
to go through the rest of my pregnancy with the
therapists and social workers.
false hope that everything would be fine and when the baby was born, be disappointed.’ The birth of any baby is an exciting time for
Children will need different programs depending on their personality and intellectual capability. The most important factor is to
parents and relatives but when a child is born
provide opportunities. Generally:
with a health problem or a disability this joy may
s As a toddler, early intervention programs can be
be replaced with worry, anger, shock and grief.
centre based, home based or a mixture of the two.
For Siobhan, knowing what to expect helped:
s From birth to school age, children may attend
‘We felt we both really needed to know for sure
preschool, playgroups and childcare centres.
so we could grieve and prepare, and then greet
Special care settings are also an option as are
our baby with joy and love. And this is exactly
mainstream environments. You may choose to
use one or both depending on your child and
the future due to her intellectual disability, her
their needs.
life so far has proved to be one of achievements
s Schooling is an important decision. Special
and milestones.’
school settings as well as mainstream schools
Today there are many services nationwide
are options. A child may go to a mainstream
for both parents and carers to help deal with
school but attend special developmental
and understand Down syndrome. ‘The Down
programs. By attending a mainstream school
Syndrome Association of NSW is especially
a child will link with and grow up with other
fantastic in offering support and education
children in the area (if attending a public school).
to parents and carers on an ongoing basis –
They will be exposed to a range of experiences
from the time a baby is born right through
and be challenged in a variety of ways.
to adulthood,’ Melissa says. There is a Down
‘Government services are available, however
syndrome association in each state.
the waiting lists are incredibly long,’ explains
For Melissa, the birth of Alyssa opened up
Siobhan. ‘Fortunately, a number of education-
a whole new world: ‘I have thrown myself into
based charities exist to fill the gap.’ For Siobhan,
voluntary fundraising for Down Syndrome
balance is the key. Joel attends a mainstream
NSW, and I’m passionate about education and
preschool two days a week, an early intervention
awareness of people who are living with Down
facility two mornings a week, and has regular
syndrome. I hold my own annual market day
speech and occupational therapy sessions.
fundraiser in the Sydney suburb of Wattle Grove
The main thing to remember when choosing
each March. I also run monthly morning tea
programs is to focus on the child’s abilities – what
support groups for other mums of babies and
they can and can’t do, what they enjoy and what
children who have Down syndrome.
they dislike. Playing, encouraging learning and
‘I think my own ignorance and lack of
stimulating intelligence through all the senses
knowledge at Alyssa’s birth has inspired me to
will help a child with Down syndrome learn.
do the work I’m doing.’
WHAT ABOUT ADULTHOOD? Only 10 to 15 percent of people with Down
s
RESOURCES
syndrome are profoundly intellectually disabled
USEFUL CONTACTS
– the majority have mild to moderate impairment
s CYH COM Has some great tips aimed at kids about Down syndrome, taking them through symptoms, physical differences, feelings and more. s DSANSW ORG AU Includes articles, stories and more for people with Down syndrome, their friends, families, people expecting a child with Down syndrome and healthcare professionals. There is a Down syndrome association in each state. Type Down syndrome association into Google to find your local one. s DOWNSYNDROMELIVES COM AU You can purchase a book at this site that features individual stories from families who have experienced life with someone who has Down syndrome. s HEALTHINSITE GOV AU A site with a wide range of information on important health conditions, with a variety of topics on specific areas of Down syndrome. s LIFESTART ORG AU Lifestart is a parent co-operative providing a family centered approach to the needs of children with disabilities and their families.
and some have a normal IQ. Many adults are able to live independently and work. Job Access, an Australian government initiative, has various solutions and adjustments that employers can make to assist adults with Down syndrome. These include: s Organising the work day with set structure and routine. s Use prompts to trigger memory and recall such as alarms and computer alerts, or use of a buddy system. s Education for coworkers about the condition, and any information about the person such as how they best communicate. s The use of adaptive technology to overcome any barriers associated with hearing or vision loss. Health-wise, adults with Down syndrome may experience premature ageing, as well as memory loss, dementia and impaired judgment – similar to Alzheimer’s but closer to 40 years of age than 80. Family members need to be prepared to intervene when needed. Melissa says: ‘Michael worried about Alyssa’s future as an adult. While we have learned that she will no doubt experience some limitations in