Amity
A series of red spots on Amity’s cheek look innocent enough – but they actually reveal a more serious genetic condition that could have a devastating impact.
This Jeans for Genes Day, on Friday 2nd August, everyday Australians can help Children’s Medical Research Institute (CMRI) produce outcomes that change lives – just like Amity’s.
Amity was born happy and healthy, but it was when some little red spots on her cheek started to grow bigger that her parents Cass and Luke became worried. A dermatologist sent Amity for genetic testing – which confused her parents.
We’re talking about a spot on the skin. What’s this got to do with genetics,
In the end Amity’s condition was so rare that it took two years for her parents to get a final diagnosis of Capillary Malformation-Arteriovenous Malformation Type 2. It impacts her capillaries and can lead to stroke.
“She could end up with one enlarged vein that runs over the top of the brain that can put pressure on the brain and cause seizures, or if she has nosebleeds or headaches, then it could be the sign of a stroke,’’ Cass said. “It took a while to sink in, what could happen, and it's scary.’’
The family decided to keep the news to themselves, until Jeans for Genes Day in 2023 when they told their wider social network to fundraise for Children’s Medical Research Institute and educate others about rare genetic conditions.
They raised an extraordinary $13,000 in one week!
“I had an overwhelming response from friends who had no idea about Amity’s condition,’’ Luke said. “To have phone calls, we’re talking grown men who would happily get on the phone and have a conversation with you and cry on the phone. It's very overwhelming. And you know, it's going towards a good cause.’’
Luke said after going into the labs at CMRI he would urge more people to donate to research.
It's a child's life – it’s the only way I could put it. This fundraising goes towards many children's lives. And it may not happen now - but it's something that could in the future help someone's child live a long life.
Jeans for Genes raises money for the vital work being done by the scientists at Children’s Medical Research Institute to find treatments and cures for diseases including epilepsy, cystic fibrosis, cancer, genetic blindness, and many more of the 7000 genetic diseases that impact Aussie kids.
Sign up now to fundraise your own way. You can Bake it Blue with a cake stall, do some Ks for Kids by 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.