Latest news with #JeansforGenes
West Australian
06-08-2025
- Health
- West Australian
Jeans for Genes Day: Research offering hope to children like Harper, who lives with a rare liver condition
Putting on a pair of jeans today could offer hope to kids with incurable genetic conditions like Harper Mitsopoulos. Jeans for Genes Day on August 7 is raising funds for the Children's Medical Research Institute in a bid to cure genetic conditions. One-year-old Harper was born with Ornithine Transcarbamylase (OTC) deficiency, where the body can't breakdown ammonia — a toxic waste product when digesting protein — leading to its build up in the blood. Harper seemed like every other one-year-old until she suddenly became lethargic and wasn't responding to her parents. 'We took her to like the ED straight away and they ran a bunch of tests on her and couldn't figure it out for a while,' Harper's mum Bronte Wilson said. 'We had never heard of it so obviously when we found out it was quite overwhelming and we were wondering what her future looked like.' 'That first episode is vital and we obviously got her to the hospital in time for her to not hopefully have any ongoing issues and it's basically now just a controlled diet for the rest of her life,' Harper's dad Kyle Mitsopoulos added. The only way to manage the condition is through a low protein diet and haemofiltration — a tool that removes waste products and excess fluid from the blood. Currently, the cure for OTC deficiency is a liver transplant which means being on immunosuppressive medications for life to prevent liver rejection. Harper is doing well with her low protein diet but her parents said Jeans for Genes research was offering hope for the future. Mr Mitsopoulos is taking on the Jeans for Genes 100 Skips a Day challenge during August to help raise funds. 'It is rare and there isn't much information about conditions like OTC deficiency so the more awareness and the more funds there is into research helps everybody involved,' Ms Wilson said. CMRI gene therapy associate professor Samantha Ginn said funding was important for conditions like OTC deficiency so children would one day not need a liver transplant to fix the rare condition. 'Up until the point that they get a liver transplant, they need to be managed very carefully to make sure they don't have episodes of high ammonia in the blood which can cause coma and unfortunately in some cases be fatal,' she said. 'For a liver transplant, you have to wait for a donor, there can be complications from transplantation and then they're maintained on immunosuppressive medications for life. 'That's why we think gene therapy is important. If we can treat their own liver that provides an alternative.' The CMRI team has been working on gene therapies for 30 years with promising trials revealing they could restore function to cells in the liver that aren't working. 'We've got some very promising data in early trials with one child treated,' associate professor Ginn said.
The Advertiser
10-07-2025
- Health
- The Advertiser
Meet the Hunter's brave little girl making life better for kids just like her
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."
