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 (CMRI). She was diagnosed with the genetic eye condition Leber’s Congenital Amaurosis at six months old.
Amelia’s mum Anita after finding out about the diagnosis, said:
“I cried for a week, a full week, I remember night and day. I cried, wondering what the future of 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?’’
Watch the video below to find out more about Amelia
One thing that changed Anita’s perspective was discovering that Professor Robyn Jamieson at the Children’s Medical Research Institute had been involved in Australia’s first ever gene therapy for inherited eye disease, and there was work being done for other conditions. Professor Robyn Jamieson is Head of the Eye Genetics Research Unit at CMRI.
“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 the development of new therapies that have never previously been available. My hope is that we can make a positive difference in the lives of many more people.’’
“In 20 years, I have seen such incredible progress. Research in the field of genetic eye diseases offers immense possibilities – to maximise the ability to deliver definitive genetic diagnoses and develop many kinds of cutting-edge therapies to stop, and even reverse, vision loss and restore sight. However, lack of research funding has been a major challenge,” said Professor Jamieson
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 sports 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.
However, Amelia and her family want to help Professor Jamieson’s research and bring awareness to genetic eye issues and how more money is needed to research therapies. That is why Amelia is one of the faces of the Jeans for Genes Day.
You don’t have to wait for Jeans for Genes Day to make a tax-deductible donation. You can donate now via this link (you may want to do it now with the end of the financial year looming).
Amelia and her family and the dedicated researchers would be thrilled if you could make a donation.
.){kind=link}