Latest news with #KabukiSyndrome
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."
Perth Now
15-06-2025
- Entertainment
- Perth Now
Thousands travel far and wide to win cash in Mega Bingo
A full house was just the ticket as more than 5000 players packed the Perth Convention Centre hoping to win a piece of the $137,000 prize money offered in the annual Telethon Mega Bingo yesterday. Players — both experienced and novice — intently followed calls like 'legs eleven' and 'clickety-click' with dreams of spending big on a new kitchen or overseas holiday. And when first-time player Natasha Newberry shouted 'bingo' to secure $37,500 cash, a huge round of loud cheers filled the room. Ms Newbery, who has seven children and one grandchild on the way, said she couldn't wait to share the winnings with the family. 'It's like a dream come true, I came in with high spirits but I never thought it would actually happen,' she said. Players came dressed for success, some in rubber duckie onesies, others wearing floral headpieces, all adding to the vibrancy of the day. Doreen Hughes (97) at the Telethon Mega Bingo 2025 at the Perth Convention and Exhibition Centre. Credit: Ross Swanborough / The West Australian Among the enthralled crowd was 61-year-old Gary Thomas, who flew all the way from England to take part in the bingo extravaganza. Mr Thomas had been hearing about the Telethon Mega Bingo from friends who had volunteered since the very first bingo event in 2008, and said he 'had to see what it was all about'. 'I arrived in Perth last night and I leave tomorrow evening,' he said. 'I always knew I was going to come do it one day... I will be back for sure, I am having a lot of fun.' Monique Archer racked up some frequent flyer points too, jetting over from Brisbane for a quick two-day break to take part in the Mega Bingo. The crowd at the Telethon Mega Bingo 2025 at the Perth Convention and Exhibition Centre Credit: Ross Swanborough / The West Australian 'I'm from Perth originally but I've lived in Queensland for 17 years. All my best girlfriends are still here so I often come back for the event,' she said. 'I grew up watching Telethon on TV. When I go home I feel like my soul is filled having spent time with my best friends and sister and helping raise money for children in WA.' Karen Raftos — the first-ever prize winner at the very first Telethon Mega Bingo — was there with her daughter Rachel Wright and mum Helen Raftos. Karen Raftos, Rachel Wright and Helen Raftos, who are 3 generations playing at the Telethon Mega Bingo 2025 at the Perth Convention and Exhibition Centre. Credit: Ross Swanborough / The West Australian Ms Raftos has been a Telethon lover for as long as she can remember and experienced the true magic of Telethon first-hand when her daughter was diagnosed with Kabuki Syndrome. 'Knowing how generous and supportive everyone in this room is of sick children, that is why we haven't missed a year, the atmosphere is just incredible,' Ms Raftos said. Noreen Dickerson, Sharon Dawson, Christine Wilson and Lorraine Dickerson at the Telethon Mega Bingo 2025 at the Perth Convention and Exhibition Centre. Credit: Ross Swanborough / The West Australian While this year there was a lower age limit of 12, there was nothing stopping 97-year-old Doreen Hughes — who has attended the event since 2009 — from trying her luck. Tony Ashford was the lucky winner of a brand new GWM Haval Jolion Luxury. There is another to be won on Sunday; each vehicle is valued at nearly $30,000.
West Australian
14-06-2025
- Entertainment
- West Australian
Telethon Mega Bingo 2025 sees 5000 people from as far as England compete for cash while helping sick kids
A full house was just the ticket as more than 5000 players packed the Perth Convention Centre hoping to win a piece of the $137,000 prize money offered in the annual Telethon Mega Bingo yesterday. Players — both experienced and novice — intently followed calls like 'legs eleven' and 'clickety-click' with dreams of spending big on a new kitchen or overseas holiday. And when first-time player Natasha Newberry shouted 'bingo' to secure $37,500 cash, a huge round of loud cheers filled the room. Ms Newbery, who has seven children and one grandchild on the way, said she couldn't wait to share the winnings with the family. 'It's like a dream come true, I came in with high spirits but I never thought it would actually happen,' she said. Players came dressed for success, some in rubber duckie onesies, others wearing floral headpieces, all adding to the vibrancy of the day. Among the enthralled crowd was 61-year-old Gary Thomas, who flew all the way from England to take part in the bingo extravaganza. Mr Thomas had been hearing about the Telethon Mega Bingo from friends who had volunteered since the very first bingo event in 2008, and said he 'had to see what it was all about'. 'I arrived in Perth last night and I leave tomorrow evening,' he said. 'I always knew I was going to come do it one day... I will be back for sure, I am having a lot of fun.' Monique Archer racked up some frequent flyer points too, jetting over from Brisbane for a quick two-day break to take part in the Mega Bingo. 'I'm from Perth originally but I've lived in Queensland for 17 years. All my best girlfriends are still here so I often come back for the event,' she said. 'I grew up watching Telethon on TV. When I go home I feel like my soul is filled having spent time with my best friends and sister and helping raise money for children in WA.' Karen Raftos — the first-ever prize winner at the very first Telethon Mega Bingo — was there with her daughter Rachel Wright and mum Helen Raftos. Ms Raftos has been a Telethon lover for as long as she can remember and experienced the true magic of Telethon first-hand when her daughter was diagnosed with Kabuki Syndrome. 'Knowing how generous and supportive everyone in this room is of sick children, that is why we haven't missed a year, the atmosphere is just incredible,' Ms Raftos said. While this year there was a lower age limit of 12, there was nothing stopping 97-year-old Doreen Hughes — who has attended the event since 2009 — from trying her luck. Tony Ashford was the lucky winner of a brand new GWM Haval Jolion Luxury. There is another to be won on Sunday; each vehicle is valued at nearly $30,000.
