Lynn Bailey (Parent Support Coordinator, Down Syndrome NSW): Down syndrome is a chromosomal abnormality. It happens at conception. There is no fault of anyone. It is where there is an extra chromosome on the 21st chromosome. One of the things to remember is that the child will have 46 chromosomes that it would have had anyhow – it just has one additional chromosome. So the child is a combination of its parents, like its brothers and sisters. The fact that it has an extra chromosome is going to give it, the child, a few additional features of somebody else with Down syndrome, but it doesn’t mean that that child is going to look like every other child with Down syndrome. The child will look like his or her family.

Professor Martin Delatycki (Director, Clinical Genetics at Austin Health, and paediatrician): So the children with Down syndrome invariably have a number of features, including certain facial features, and have intellectual disability as a result of the effects of having 3 copies of chromosome 21 on the developing brain. About half will have a problem with the heart and the way the heart develops. Some will have underactivity of the thyroid gland. Occasionally there can be blockage in the bowels.

Lynn Bailey: When a child with Down syndrome is born, the medical machine goes into overdrive and they test for everything, as they should. But that does not mean that your life is going to be full of medical appointments. It is just for that initial period of checking everything that they should, that the heart, the hearing, the bowel, all those things. But once they are ticked off, it doesn’t mean your life is going to be living at the doctors.

Kati: My name is Kati. I have 3 kids and my eldest, Taylor, who is 7½, has Down syndrome.

Dona: My name is Dona. I have, my husband and I, have 5 children, and Charlie, who has Down syndrome, is our fourth child.

Lynn Bailey: When the family is in hospital with a new baby, it can feel to them, often, that, like they have given birth to a diagnosis rather than to a baby. So we make a big issue of the fact that they have had a baby and that baby should be celebrated, because a baby is born, not a diagnosis.

Professor Martin Delatycki: After birth, most children with Down syndrome can be treated in exactly the same way as any other child. They can breastfeed, and they can be with their mother. Children can go home with their parents, bond and settle into the routine of the family. So finding out that your child has Down syndrome can be quite a shock for parents, especially if people haven’t learnt that during the pregnancy and had time to come to terms with it before the birth of their child. And parents often find very helpful to come into contact with the local Down Syndrome Association, who can provide enormous support and help. And they can find help from family, friends, from their local doctor. They might be referred for counselling if that is helpful for those individuals.