At the Children's Medical Research Institute, we focus (rightly) on prevention and curing disease, but sometimes we are surprised to find that just being able to provide an accurate diagnosis can make a huge difference to children suffering from genetic diseases and their families.

Like most new parents expecting their first child, Sharlene and Steve Dadd anticipated a healthy, perfect child who would grow and develop normally, meeting developmental milestones and gradually realising goals and dreams along the way. Would he be good at sports, would he be an academic, would he travel, run a business, marry and have children? An exciting vista of challenges and anticipation awaits all new parents as they embrace their new role.

But as Sharlene Dadd says, "Things don't always work out as planned". In his young life, Marcus, now 10, has endured illness, discomfort and challenges that most of us will not experience in a lifetime. In his first year he suffered from a life-threatening bowel disorder, gut problems and allergic reactions. Then there was the discovery of a nerve delay, low muscle tone and a lack of balance. Then the devastating finding that Marcus was profoundly deaf. Blow followed blow, and as things became worse Sharlene and Steve felt guilt that perhaps it was their fault that their beautiful boy was going through so much.

Diagnosis Provides Some Answers

Finally, a breakthrough occurred, when they were referred to a geneticist who was researching Waardenburg Syndrome. With the diagnosis of Waardenburg Syndrome, things turned around for the Dadds, as they had knowledge of what dealing with the condition would mean. It could be managed, and Marcus could lead a full and happy life. With this clarity came comfort, and empowerment to face the issues ahead.

One of the biggest challenges for parents of children with a genetic condition is understanding the full scope of what their child's illness means, not just for their child, but for the whole family. They rely on the expertise and support of many different health professionals to understand how to best deal with their child's unique needs.

Piecing Together Genetic Puzzles

Children born with genetic abnormalities and diseases form an incredibly broad spectrum. Although we deal with so many issues, there is one thing, as parents of these children that we all have in common. That is the desire to understand the full scope of what we are dealing with and to work with that information to ensure that our children can grow up to reach their full potential. That understanding only comes with the help of the wonderful scientists and doctors working relentlessly at the Children's Medical Research Institute and related organisations or labs.
Sharlene Dadd, mother of 10-year-old Marcus.

Finding answers to their questions about why, how and even when these conditions may occur during development is like fitting together the pieces of an intricate puzzle. As the quest for knowledge in these areas continues there have been major advances in the field of genetic science. Scientists committed to piecing together these puzzles have amazing tools with which to realise their research goals. When this research leads to knowledge that enables better diagnosis of genetic disease, and development of better treatments, then parents have a way forward in dealing with their child's condition. A diagnosis is not enough, but sometimes it can be a huge step forward.

The Children's Medical Research Institute (CMRI) in Westmead, Sydney, is an independent organisation committed to research into the fundamental processes of life and unlocking the mysteries of disease. Here, over 120 research scientists investigate the genetic basis of debilitating conditions, such as birth defects, cancer and epilepsy, with the goal of finding answers which will lead to improved health for generations of children to come. Each piece of the puzzle of genetic disease that they are able to solve is a small victory for the one in 20 Australian children suffering from a genetic disease or congenital abnormality and gives hope for better treatments and prevention.

Finding Answers For Future Generations

The CMRI often uses the phrase "Today's Scientists for Tomorrow's Children". The research being done today lays the foundation for major improvements in the health of our children, and our children's children. Professor Roger Reddel, the Director of CMRI and Head of the CMRI Cancer Research Unit, explains: "The ongoing need for research is great, regardless of how much success we enjoy this year, next year and over the next decade, there is no possibility that by then we will have learnt all there is to know about the normal functioning of human cells, understood everything about the miracle of how a normal embryo develops, or learnt everything we need to know to prevent or treat the diseases suffered by so many children... it is critically important that we train the next generation of researchers, and provide the equipment and other facilities they need to continue and expand the effort and meet new health challenges as they arise."

Sharlene Dadd says, "Parental expectations change when you have a sick or disabled child... you just hope they'll find love, happiness and acceptance from others. Small things mean a lot. Hope is everything." The research outcomes of the CMRI contribute to this hope.

Find Out More

If you would like to know more about the research at the Children's Medical Research Institute, or become involved with our fundraising through our national Jeans for Genes campaign, or make a donation and contribute to the ongoing research, you can visit our website at www.cmri.org.au or www.jeansforgenes.org.au.