“I was just about to leave to go and watch my four year old sing at pre-school for Mothers Day when the phone rang.

Then came the words I had feared, “the tests are positive, your baby has Down Syndrome.”

I put the phone down and screamed and cried. I was terrified what this really meant.

Never before have I felt such intense pain and fear.

As I watched the ‘normal’ kids singing at the school, I felt like a knife was stabbing at my heart.

I asked myself, “why me? It isn’t fair. How will it affect me, my husband and our other four children? Will our lives ever be the same?”

We had the choice to end the pregnancy, but although I was terrified of the future, I still wanted to love and protect my baby.

I found the strength to get through the rest of the pregnancy.

My baby also had a heart defect which would need surgery when he was 3 months old, so this was an added worry.

Often my imagination got the better of me, and negative thoughts crept in.

Finally he was born and after many tests, handed to me.

I was afraid to look at him, but when I did, I was amazed at his beauty. I put him to the breast and as our eyes met, I was hooked forever.

A bond that will never be broken, unconditional love flowed between us.

He has just turned one and is the pride and joy of our family.

We could never be without our beautiful, healthy Jamie who has filled all of our hearts with so much joy and happiness.

I thank God each day for such a special child. Good luck to any new parents, enjoy your special child too.”

— Linda

What Exactly Is Down Syndrome?

Down syndrome occurs because of a chromosomal abnormality present at birth and is the most common cause of intellectual disability.

It affects 1 in every 860 people and is seen in all ethnic groups.

It gets its name from the 19th Century English physician Dr. Langdon Down, who was the first to describe and record the common characteristics of people with this condition.

From his name we get the word ‘Down’. The word ‘syndrome’ means a group of signs or symptoms that occur together to characterise a particular condition; hence Down syndrome.

In 1959 a French doctor, Jerome Lejeune, discovered that people with Down syndrome have an extra chromosome.

This relatively recent discovery is very important for medical and social reasons, as it has allowed medical researchers, parents and the general public to have accurate information about the condition and its implications.

How Does Down Syndrome Occur?

People unaffected by any chromosomal condition are born with 46 chromosomes in each cell (22 pairs plus 2 sex chromosomes).

After conception, the fertilised egg begins to divide.

Each new cell will have a matching set of chromosomes and each cell will therefore, have the same unique genetic code as the first cell.

In Down syndrome, the chromosomes in the very early cells do not pair off correctly.

One of 3 things can occur:

TRISOMY 21

This is the most common form of Down syndrome, affecting about 94% of people with the syndrome.

Here, the extra chromosome aligns itself with the 21st pair of chromosomes (hence Trisomy 21).

Although we do know that Trisomy 21 is not hereditary, we do not know what causes this particular cell division.

MOSAIC DOWN SYNDROME

About 4% of people with the syndrome have Mosaicism. It means some cells divide incorrectly while others will continue to reproduce normally.

This produces a ‘mosaic’ pattern or a mixture of cells, where some have 46 chromosomes and some have 47 (as in Trisomy 21).

The proportion of ‘normal’ cells and Trisomy 21 cells will vary greatly from individual to individual and for this reason, people with Mosaicism may be affected by the syndrome to a greater or lesser extent than those with Trisomy 21.

Mosaicism is not hereditary.

TRANSLOCATION DOWN SYNDROME

This is the least common form of the syndrome, affecting 2% of people with Down syndrome. It may be inherited.

In about 1 in 3 of these cases one of the parents will be a ‘balanced’ carrier.

This means that although they carry the extra chromosomal material, it is balanced in such a way that they themselves are unaffected.

In this form of Down syndrome part of the chromosome 21 material breaks off and the remaining segment attaches itself to another chromosome, often No.14.

In 2 out of 3 cases parents are not carriers and have no greater chance of having another baby with Down syndrome than others.

As far as we know, people with translocation are generally affected to a similar extent as with Trisomy 21.

Reproduced from ‘Down Syndrome: The Facts’ by Mark Selikowitz.

How Do We Know Which Form Of Down Syndrome Our Child Has?

When a child is born with Down syndrome, or if Down syndrome is suspected, a chromosomal analysis is carried out to confirm the diagnosis, and to determine which type of Down syndrome the child has.

This testing is usually done shortly after birth by means of a blood test.

What Are The Physical Characteristics Of A Person With Down Syndrome?

It is important to remember first and foremost that a person with Down syndrome has inherited the genetic ‘make up’ from his parents.

This means that he will have the characteristics that are unique to that family.

It is also important to note that a person’s appearance has nothing to do with his intellectual ability i.e. a person who looks more obviously to have Down syndrome is not necessarily more intellectually affected.

Each person with Down syndrome is a unique individual just as all persons are unique individuals and can vary enormously in appearance, temperament and ability.

Medical researchers have found more than 50 characteristics which may be found in people with Down syndrome. Most people with Down syndrome will have only a very few of these.

The more common ones are:

Eyes that may have a slant and an extra fold of skin on the inner side (epicanthal fold)
Small white flecks on the iris (Brushfield spots)
A generally flattened appearance of the back of the head
Smaller and/or shorter limbs, especially hands and feet
Single crease across the palm of the hand
Poor muscle tone (hypotonia) at birth making the baby feel and appear floppy
Laxity in joints, especially of the hips.

A Beautifully Documented Birth Story About Down Syndrome, Including Pictures

Read an amazing, raw and honest birth story about giving birth to an unexpected down syndrome baby.

Where Can I Go For Support?

There is a Down Syndrome Association in each state if you need further support.

The contact details are below, current at the time of writing this article.

Down Syndrome NSW
31 O’Connell Street, Parramatta NSW 2150
Ph: 02 9683 4333

Down Syndrome Association of Victoria Inc.
495 High Street
Northcote Vic 3070
Ph: 03 9486 2377

Down Syndrome Association of Queensland Inc.
PO Box 3223
STAFFORD QLD 4053
Ph: 07 3356 6655

Down Syndrome Association of ACT Inc.
‘SHOUT’ Office
Collett Place, Pearce ACT 2607
Ph: 02 6290 0656

Down Syndrome Association of Tasmania Inc.
McDougall Building, Ellersile Rd, Battery Point, TAS 7004
Ph: 03 6224 0490

Down Syndrome Association of Western Australia Inc.
4/1136 Albany Highway BENTLEY WA 6102
Ph: 08 9358 3544

Down Syndrome Association of Northern Territory Inc.
Rapid Creek Shopping Centre, Shop 16
16 Trower Road, Rapid Creek NT 0810
Ph: 08 8985 6222

Down Syndrome Society of South Australia Inc.
Hamstead Primary School (west wing), GREENACRES SA 5086
Ph: 08 8369 1122

The information in this article was provided by the Down Syndrome Association of W.A. For more information, please visit their website at www.dsawa.asn.au.