Amity

_{Age 5, Capillary Malformation-Arteriovenous Malformation Type 2}

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.

“We’re talking about a spot on the skin. What’s this got to do with genetics?"

- Cass, Amity's Mum

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.

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.”