What is Down syndrome?

You hear those two words 'Down Syndrome' - what images do those two words conjure up in your mind? What do the people you have seen around in your community who have obvious signs of DS  look like? sound like? and what are they doing?

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So what exactly is Down Syndrome?

Put very simply if a baby has Down Syndrome then they have one extra chromosome in each of their millions of cells. Instead of 46 chromosomes, a Down Syndrome baby has 47 (an extra number 21 chromosome). This additional chromosome, because of the genes it contains causes an excessive amount of certain proteins to be formed in the cell. This disturbs normal growth in the body of the fetus e.g. the baby is smaller, brain development is affected, heart defects can occur. It affects boys and girls equally and is one of the most common birth defects, though becoming rare due to the high rate of terminations.

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Types of Down Syndrome

There are three types of Down Syndrome:

1) Trisomy 21

Ninety-five percent of babies with Down Syndrome have Trisomy 21. This means that every cell of the baby's body has the extra chromosome. It results from one of the parents giving two number 21 chromosomes, rather than the usual one, to the child through the egg or the sperm.


2) Translocation

Around four percent of babies' Down Syndrome is due to the presence of an extra part, rather than the whole, of chromosome 21. This occurs when the small top portions of chromosome 21 and another chromosome break off, and the two remaining portions stick to one another at their exposed ends. Chromosomes 13, 14, 15, 22 or another 21 are involved. Chromosome 14 is the most common.

3) Mosaicism

Around one percent of babies' Down Syndrome is due to a faulty cell division which occurs in one of the earliest cell divisions after fertilization. This is in contrast to other types of DS when the mistake in cell division occurs at or before fertilization. As a result not all the cells have the extra chromosome, and the baby may have fewer of the usual physical features as well as higher intellectual abilities.

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Characteristics of Down Syndrome

There are more than 50 listed clinical characteristics associated with Down Syndrome. A baby will not display all of them. Here are some of the more common characteristics:

* poor muscle tone

* hyperflexibility (excessive ability to extend the joints)

* asymmetrical or odd-shaped skull, round head with flat area at the back of the head, small skull

* slanting eyes which may have folds of skin at the inner corners (called epicanthal folds) and small white flecks on the iris (Brushfield spots)

* flattened nose

* small or misshapen, low-set ears

* small mouth with protruding tongue

* short neck

* broad short hands and fingers

* single crease on the palm of one or both hands

* broad feet with short toes

* 'sandal toes' - a large space between the big toe and the second toe

* short, high-pitched cries in infancy

* slower growth and development (smaller in size)

* delayed mental and social skills (intellectual impairment)

(It is important to note that not all people with Down Syndrome look alike and in fact they look more like their family members than they do to each other).

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Health Issues Associated with Down Syndrome

Associated with Down Syndrome are specific health-related problems such as:

* A lowered resistance to infection

* Respiratory problems

* Visual problems e.g. short-sightedness, long-sightedness, cataracts, squints

* Mild to moderate hearing loss

* Speech difficulty

* Heart defects

* Gastrointestinal tract problems e.g. blockages and constipation

* Reflux

* Atlantoaxial Instability which is a misalignment of the top two vertebrae of the neck

* Obesity

* Leukemia and other blood related disorders

* Diabetes

* Coeliac Disease

* Epilepsy

* Obstructive Sleep Apnea

* Skin conditions

* Musculoskeletal disorders e.g. scoliosis, arthritis.

* Hypothyroidism and Hyperthyroidism

(It is important to note that not all people with Down Syndrome experience these health issues).

For more information go to Down syndrome Australia

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Down Syndrome Today

To the detriment of today's society, I believe, is the calamity that the majority of prenatally diagnosed babies with Down syndrome are being terminated. This is due to scare mongering by doctors and lack of up-to-date information given to the perspective parents.

Diversity in humanity has always been a part of the human race, but not always liked. While people fight for the rights of women, for people of colour, for the LGBTQ+ community, people with disabilities will have a difficult time being heard. The history of how people with disabilities have been treated shines a vivid light on why things are as they are now. But there are voices being heard out in the community, and these voices are saying that people with disabilities have rights and want to be treated equally.

Today people born with Down syndrome can lead independent, meaningful and ordinary lives. There is so much untapped potential in each person, which often has been held back by prejudices and low expectations.

There are many role models who have Down syndrome who are showing the world that being born with DS is okay. One day I am sure my daughter will one day join that list!

Read The Mighty's Story on People with Down Syndrome Achieving Great Things

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Jenny's Poem About her Baby Daughter Jessica


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A mop of fine dark hair, a gorgeous pair of blue eyes

A child more precious then pure gold, so tiny in size.

A cute button nose, fingers so small

Absolute cuteness made to enthrall.

Ten little toes, two dainty feet

A joy to hold and so very sweet.

Round shell ears, petite rosebud lips

Our bundle of love to cuddle and to kiss.

Oh such a beautiful child

So much happiness she brings

Protected by God as she lives with angel wings.

- Jenny Woolsey 2007

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