Meet the Hunter's brave little girl making life better for kids just like her

The Advertiser

10-07-2025

When Amelia was born, she was struggling to breathe.
Her mum, Elissa, and dad, Peter, knew something was wrong. So did their doctors, but what it was remained a mystery.
"They just kept telling us there was something wrong, and they didn't know what it was," Elissa Helyer of Lake Macquarie said.
"It honestly felt like there was just something new every day when we were in the special care nursery."
Tests were taken, and baby Amelia's DNA was sequenced in search of answers only to return to the one that was all but impossible; a one in several million possibility.
Despite neither of her parents being carriers, Amelia was diagnosed with Kabuki Syndrome. It's a rare genetic disorder causing growth and developmental delays, intellectual disability and skeletal abnormalities.
Elissa, a new mum to a loved baby girl, was overwhelmed.
"It's not really what you're expecting when you think about how things are going to be with your first child," Mrs Helyer said.
"I honestly have never seen anything about an adult with Kabuki syndrome. And I don't want to think about what that might mean."
"As parents, you envision what the future will be like, and that's really tricky with Amelia, because it doesn't seem like anyone's looked into Kabuki syndrome or what the future is for kids with Kabuki syndrome."
Amelia is one of five NSW kids - and the only one from the Hunter - to become the face of the annual medical research fundraiser Jeans for Genes, supporting the labs at Children's Medical Research Institute to better understand conditions like hers.
Amelia's mum and dad say the most important thing for them is ensuring her quality of life, and to help her and kids who are born with similar conditions, to live a fulfilling life.
"There really wasn't a lot of information out there," Mrs Helyer said.
"There were a couple of snippets, but it's not like there was a very clear picture of what is going to happen in her life."
Amelia has done extensive physiotherapy and occupational therapy to help her walk and talk, as well as wearing leg braces. She has brittle bones, and her knees dislocate easily.
Dr Mark Graham at Children's Medical Research Institute was part of a recent research project looking at the underlying mechanisms of neurological conditions. It's improving outcomes for children with Kabuki.
"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," Mr Helyer 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."
Jeans for Genes is one of Australia's oldest charity days and this year it will move to the first Thursday in August, organisers said.
"It's not just about Amelia," Mrs Helyer said.
"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."
When Amelia was born, she was struggling to breathe.
Her mum, Elissa, and dad, Peter, knew something was wrong. So did their doctors, but what it was remained a mystery.
"They just kept telling us there was something wrong, and they didn't know what it was," Elissa Helyer of Lake Macquarie said.
"It honestly felt like there was just something new every day when we were in the special care nursery."
Tests were taken, and baby Amelia's DNA was sequenced in search of answers only to return to the one that was all but impossible; a one in several million possibility.
Despite neither of her parents being carriers, Amelia was diagnosed with Kabuki Syndrome. It's a rare genetic disorder causing growth and developmental delays, intellectual disability and skeletal abnormalities.
Elissa, a new mum to a loved baby girl, was overwhelmed.
"It's not really what you're expecting when you think about how things are going to be with your first child," Mrs Helyer said.
"I honestly have never seen anything about an adult with Kabuki syndrome. And I don't want to think about what that might mean."
"As parents, you envision what the future will be like, and that's really tricky with Amelia, because it doesn't seem like anyone's looked into Kabuki syndrome or what the future is for kids with Kabuki syndrome."
Amelia is one of five NSW kids - and the only one from the Hunter - to become the face of the annual medical research fundraiser Jeans for Genes, supporting the labs at Children's Medical Research Institute to better understand conditions like hers.
Amelia's mum and dad say the most important thing for them is ensuring her quality of life, and to help her and kids who are born with similar conditions, to live a fulfilling life.
"There really wasn't a lot of information out there," Mrs Helyer said.
"There were a couple of snippets, but it's not like there was a very clear picture of what is going to happen in her life."
Amelia has done extensive physiotherapy and occupational therapy to help her walk and talk, as well as wearing leg braces. She has brittle bones, and her knees dislocate easily.
Dr Mark Graham at Children's Medical Research Institute was part of a recent research project looking at the underlying mechanisms of neurological conditions. It's improving outcomes for children with Kabuki.
"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," Mr Helyer 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."
Jeans for Genes is one of Australia's oldest charity days and this year it will move to the first Thursday in August, organisers said.
"It's not just about Amelia," Mrs Helyer said.
"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."
When Amelia was born, she was struggling to breathe.
Her mum, Elissa, and dad, Peter, knew something was wrong. So did their doctors, but what it was remained a mystery.
"They just kept telling us there was something wrong, and they didn't know what it was," Elissa Helyer of Lake Macquarie said.
"It honestly felt like there was just something new every day when we were in the special care nursery."
Tests were taken, and baby Amelia's DNA was sequenced in search of answers only to return to the one that was all but impossible; a one in several million possibility.
Despite neither of her parents being carriers, Amelia was diagnosed with Kabuki Syndrome. It's a rare genetic disorder causing growth and developmental delays, intellectual disability and skeletal abnormalities.
Elissa, a new mum to a loved baby girl, was overwhelmed.
"It's not really what you're expecting when you think about how things are going to be with your first child," Mrs Helyer said.
"I honestly have never seen anything about an adult with Kabuki syndrome. And I don't want to think about what that might mean."
"As parents, you envision what the future will be like, and that's really tricky with Amelia, because it doesn't seem like anyone's looked into Kabuki syndrome or what the future is for kids with Kabuki syndrome."
Amelia is one of five NSW kids - and the only one from the Hunter - to become the face of the annual medical research fundraiser Jeans for Genes, supporting the labs at Children's Medical Research Institute to better understand conditions like hers.
Amelia's mum and dad say the most important thing for them is ensuring her quality of life, and to help her and kids who are born with similar conditions, to live a fulfilling life.
"There really wasn't a lot of information out there," Mrs Helyer said.
"There were a couple of snippets, but it's not like there was a very clear picture of what is going to happen in her life."
Amelia has done extensive physiotherapy and occupational therapy to help her walk and talk, as well as wearing leg braces. She has brittle bones, and her knees dislocate easily.
Dr Mark Graham at Children's Medical Research Institute was part of a recent research project looking at the underlying mechanisms of neurological conditions. It's improving outcomes for children with Kabuki.
"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," Mr Helyer 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."
Jeans for Genes is one of Australia's oldest charity days and this year it will move to the first Thursday in August, organisers said.
"It's not just about Amelia," Mrs Helyer said.
"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."
When Amelia was born, she was struggling to breathe.
Her mum, Elissa, and dad, Peter, knew something was wrong. So did their doctors, but what it was remained a mystery.
"They just kept telling us there was something wrong, and they didn't know what it was," Elissa Helyer of Lake Macquarie said.
"It honestly felt like there was just something new every day when we were in the special care nursery."
Tests were taken, and baby Amelia's DNA was sequenced in search of answers only to return to the one that was all but impossible; a one in several million possibility.
Despite neither of her parents being carriers, Amelia was diagnosed with Kabuki Syndrome. It's a rare genetic disorder causing growth and developmental delays, intellectual disability and skeletal abnormalities.
Elissa, a new mum to a loved baby girl, was overwhelmed.
"It's not really what you're expecting when you think about how things are going to be with your first child," Mrs Helyer said.
"I honestly have never seen anything about an adult with Kabuki syndrome. And I don't want to think about what that might mean."
"As parents, you envision what the future will be like, and that's really tricky with Amelia, because it doesn't seem like anyone's looked into Kabuki syndrome or what the future is for kids with Kabuki syndrome."
Amelia is one of five NSW kids - and the only one from the Hunter - to become the face of the annual medical research fundraiser Jeans for Genes, supporting the labs at Children's Medical Research Institute to better understand conditions like hers.
Amelia's mum and dad say the most important thing for them is ensuring her quality of life, and to help her and kids who are born with similar conditions, to live a fulfilling life.
"There really wasn't a lot of information out there," Mrs Helyer said.
"There were a couple of snippets, but it's not like there was a very clear picture of what is going to happen in her life."
Amelia has done extensive physiotherapy and occupational therapy to help her walk and talk, as well as wearing leg braces. She has brittle bones, and her knees dislocate easily.
Dr Mark Graham at Children's Medical Research Institute was part of a recent research project looking at the underlying mechanisms of neurological conditions. It's improving outcomes for children with Kabuki.
"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," Mr Helyer 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."
Jeans for Genes is one of Australia's oldest charity days and this year it will move to the first Thursday in August, organisers said.
"It's not just about Amelia," Mrs Helyer said.
"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."