When a parent gets the devastating diagnosis that their child has a genetic disease, there is only one thing that determines their future – research.

This Jeans for Genes Day on Friday 4th August, everyday people can help the scientists at Children’s Medical Research Institute to change the future of the 1 in 20 Australian kids living with a genetic disease or birth defect.

For 65 years, the scientists at Children’s Medical Research Institute have been doing cutting edge work and today they are finding treatments and cures for diseases including epilepsy, cystic fibrosis, cancer, devastating metabolic conditions, genetic blindness, and many more of the 6000 genetic diseases that impact kids like Western Sydney kids Abbey or Teddy.

Abbey’s parents received not one, but two diagnoses for their young daughter that changed their lives. First, they were told she was legally blind due to a rare genetic condition that also impacted her kidney. Months later, their worst fears were realised when this condition led to cancer.

“I was devastated,’’ mum Irene said. “I was in that black hole to begin with, and I'd go to sleep, have a nightmare, wake up and feel like this is the nightmare.’’

However, it was research that allowed doctors to link her symptoms to her condition.

“Abbey wouldn't be here without all the research,’’ Irene said. “They had a plan in place already because of what has happened before and all the research that they've done. It's so important to support medical research.’’

Research has also given answers and hope to Teddy’s family. He was diagnosed with a rare neurodevelopmental syndrome that impacts everything from walking to talking.

“You just love your kids, no matter what. We had all the genetic testing you can get while you're pregnant, and I didn't plan to have a child with a disability, but it happened.

“It can affect you out of nowhere like this. You probably know someone who has a condition that is being researched by the team at Children's Medical Research Institute, and they're so close to doing something incredible. We just need to tip it over the edge. And money is the way that more research happens.’’

Gene and stem cell therapies offer some of the greatest hope for families, and the scientists at Children’s Medical Research Institute are leaders in these fields. Associate Professor Leszek Lisowski said helping families is what gets him out of bed in the morning.

“It is a very emotionally demanding job that we do when you meet these families,’’ Associate Professor Lisowski said. “We have this pressure of knowing the impact of our work. But I find it very rewarding to be doing something that matters and that one day may help someone.

“Genetic disease can destroy a child, parents, and a family and trying to change that is very motivating.’’

We can’t find the cures with medical research, and we can’t do the research without your support.

This year there are so many more ways to fundraise for research. If you’d like to get fit, then why not try Sofa to 6km or the Skipping Challenge? If cooking is more your thing, then hold a Bake it Blue event. Of course, there is always the original favourite of Wear Jeans to your school or workplace.

Celebrate the 30th year of Jeans for Genes Day on Friday 4th August. To get involved or donate, visit JeansforGenes.org.au

Or donate to the Western Sydney Business Connection Fundraiser here.