'The birthmark on her cheek is a ticking time bomb'

“She understands that her special blood makes her have these birthmarks, and it can also make her have birthmarks inside."

Joel Erickson

3 min read

July 31, 2024 - 12:08PM

Meet Amity sharing her story for Jeans for Genes

Family Life

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To a stranger, Amity just looks like a normal five-year-old girl with a birthmark on her cheek.

But the red ‘splotches’ hide a genetic condition that is potentially a ticking time bomb for the little girl and her family.

Amity’s mum Cass told Kidspot everything seemed normal until she developed a spot on her left cheek.

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“Developmentally and health-wise, everything was spot on,” she said.

“It was literally just one tiny red spot on her left cheek that developed into blotches over a few months.

“When she was a year old we figured it must be something, so we took her to the GP who referred us to a dermatologist.”

Amity with her dad Luke and mum Cass. Picture: Supplied

"It was confusing and overwhelming"

Amity’s first dermatologist was stumped, but her second one sent her for immediate genetic testing.

“We were initially confused,” Cass said. “We just thought it would be something superficial on the skin that could be lasered off, but all of a sudden we were getting tested and sending the specimens to America.

“It was just confusing and overwhelming.”

Amity was diagnosed with Capillary Malformation-Arteriovenous Malformation Type 2, caused by a mutation in her ETHB4 gene.

It means a protein needed in building capillaries and arteries dies too early in Amity’s body, meaning she can have malformed blood vessels.

Amity's birthmark on her left cheek is an indicator of an extremely rare genetic condition. Picture: Supplied

"We have to watch out for nosebleeds and headaches"

It’s why she has more than 20 marks over her body, but also comes with a potentially serious side effect.

“She has a higher risk of aneurysms and strokes,” Cass said.

“We have to watch out for any nosebleeds and headaches because they could be a sign she’s having a stroke.

“She has to have routine MRIs to make sure we don’t miss anything abnormal.”

Amity is the face of a partnership between Lowes and Jeans for Genes. Picture: Supplied

"I tell her she has 'special' blood"

Cass said Amity understands she has a genetic condition, but doesn’t know all the ins and outs at such a young age.

“I tell her she has unique or ‘special’ blood,” she said.

“She understands that her special blood makes her have these birthmarks, and it can also make her have birthmarks inside.

“Having sisters who don’t have visible birthmarks helps her understand that her blood is different as well.”

Amity with her mum and two little sisters. Picture: Supplied

"I'm going to keep advocating and raising money"

Cass and her family have become involved with Jeans for Genes Day, and have fundraised heavily to help kids with similar conditions to Amity.

“Jeans for Genes has really helped,” Cass said.

“She loves it, and it’s helping her understand it more as well.She knows how much needs to be done for kids like her.

“All the money we’ve helped raise goes straight to Jeans for Genes and the Children’s Medical Research Institute. CMRI isn't guaranteed direct government funding, so they need it.

“More importantly, the kids need it, and I’m going to keep advocating and raising money because I want to eventually find a treatment for Amity.”

Children’s Medical Research Institute (CMRI) is a state-of-the-art medical research organisation dedicated to researching the genes and proteins important for human development, health and disease. Affiliated with the University of Sydney, CMRI is supported in part by its key fundraiser Jeans for Genes® and the Luminesce Alliance and is located at Westmead, a major health and innovation precinct in Sydney, NSW, Australia.