Amelia
When a child is diagnosed with a genetic condition most parents assume it will be treatable and curable – yet for some families their child’s condition is so rare that there is little known about the condition to guide them through their future.
This was the case for the family of Amelia who is one of the 2025 faces of Jeans for Genes the iconic fundraising day that supports the labs at Children’s Medical Research Institute so scientists can do work today to change lives tomorrow.
When Amelia was born her parents knew there was something wrong instantly. She had difficult breathing, there was a hole in her heart, she had issues with her blood sugar and platelet count - according to her mum Elissa.
"It honestly felt like there was just something new every day when we were in the special care nursery,"
They just kept telling us there was something wrong, and they didn't know what it was. So, it was a bit of a roller coaster.’’
Genetic testing was done and months later it was discovered that Amelia had Kabuki Syndrome. In this rare congenital disorder, the children’s facial features are similar to a Japanese Kabuki mask and most have intellectual disability and developmental issues.
The big, scariest thing was shortened life expectancy,"
Amelia has done extensive physiotherapy, speech therapy and occupational therapy to help her walk and talk, as well as wearing leg braces. She wears leg braces to help with her low muscle tone and dislocating knees.
Dr Mark Graham at CMRI was part of a recent research project looking at the underlying mechanisms of neurological conditions, which is improving outcomes for children with Kabuki Syndrome.
“I mean, all the other kids welcome her with open arms, but you can definitely tell there's a big difference between her and kids her age,’’ Peter said. “We just don't want her to keep falling behind. The more research and the more money we can raise for research gives these kids so much more opportunity in the future.’’
Elissa urged everyone to get behind Jeans for Genes.
“By supporting the campaign, you're going to be changing people's lives. It's not just about Amelia.
You know, there's so many kids that are affected by genetic syndrome, and they all deserve to live a fulfilling, happy life, and the only way that's going to happen is if there's some research to find out what we can and make a bit of a difference.’’
Jeans for Genes is one of Australia’s oldest charity days and this year it will move to the first Thursday in August – after finding that many of our capital city streets and offices are quiet on a Friday.
It may be on a different day but the challenge of finding treatments and cures for 1 in 20 Aussie kids with conditions like cancer, cystic fibrosis and other devastating diseases remains the same.
Jeans for Genes Day allows labs to stay open, science to continue and lives to be saved.
Sign up now to fundraise your own way. You can Bake it Blue with a cake stall, do walking, running, skipping, or any form of exercise you like – or simply wear jeans just like millions of Australians have done for more than 30 years.