When her only child was diagnosed with a genetic eye condition, mum Anita described the emotions as “like going through the stage of grief, watching your blind child grow up in a sighted world’’.
“Devastation can’t even describe it. Confusion, turmoil, despair, grief. It was a real whirlwind where you think, what is the future for my child going to be like? Nothing can ever prepare you for that moment. And nothing did prepare us because we had none of this in our family. It was a recessive gene that both my husband and I carried.’’
Amelia, 7, is one of the faces of the 2023 Jeans for Genes campaign which raises funds for the vital work being done in the labs at Children’s Medical Research Institute. Scientists are finding treatments and cures for the 1 in 20 children living with birth defects and genetic diseases (like cancer and inherited blindness), through world-leading medical research.
It was when Amelia was three months old that her parents, Anita and Mathew, were told by their GP that her eyes weren’t following movement around the room. She was sent for further testing, and by six months old, they got the news that Amelia had Leber’s congenital amaurosis which would leave her with very little vision.
“I cried for a week; a full week,’’ Anita said. “I remember night and day….. I cried, wondering what the future for my child was going to be like. How is she going to walk? How is she going to stay safe and not get hit by a car?’’
Seven years later, life is a lot brighter for Amelia. She is a talented pianist who learns songs easily after only a couple of listens. She has won awards for her brilliance at mastering Braille and is progressing well at school with both sport and academics.
Amelia walks with a cane and it is only now that she’s older that her parents can assess what she is and isn’t able to see.
“I can stand directly in front of her and she walks right past me. It’s still really difficult to watch. Breaks my heart every time. You never get used to it.’’
One thing that changed Anita’s perspective was discovering that Professor Robyn Jamieson at Children’s Medical Research Institute had been involved in Australia’s first ever gene therapy for an inherited eye disease and there was work being done for other blinding eye conditions.
“Our team is involved in new therapy and clinical trials for genetic eye disorders, and there have been some great outcomes that give us impetus and hope for our future efforts,’’ Professor Jamieson said.
“This research can make a real difference to people by leading to therapy-eligibility or development of new treatments that have never previously been available. My hope is that we can make a positive difference in the lives of many more people.’’
Anita said it was “beyond exciting’’ to go into the labs and hear from Professor Jamieson about her team’s work and urged all Australians to support their research.
“You never think it’s going to happen to you – ever. That’s not something anybody ever thinks. It’s always something that happens to someone else. But
it could, and research is really important to support because it can make a really big difference in the lives of those that are affected and those around us. It’s a really important cause, and we hope that we’ll see a change in our lives.’’
Celebrate the 30th year of Jeans for Genes Day on Friday 4th August. To get involved or donate, visit JeansforGenes.org.au