My child down syndrome summer09

)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

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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