Latest news with #BattenDisease
The Advertiser
a day ago
- General
- The Advertiser
'She was a normal, healthy kid': Alara's 'heartbreaking' battle with rare disease
Kerri Taylor smiles when she talks of her granddaughter, Alara. Alara Kelly, age five, loves blowing bubbles and watching Bluey and Peppa Pig, according to Kerri, as well as spending time with her mother and older sister. "She's always happy, always smiling," Kerri said. "It's impossible to get the smile off her face." Alara, from Marulan in the NSW southern highlands, was diagnosed with Batten Disease in 2024 - an extremely rare neurodegenerative disorder with no known cure. The fatal disease primarily affects the nervous system, resulting in progressive cognitive decline, seizures, and loss of physical function over time. The expected lifespan for Alara's strain of the disease is between 10 and 16 years. Alara's mother, Haylei Taylor, says watching the progression in her daughter has been heartbreaking. "She was a normal, healthy kid before, developing like other kids," Haylei said. "But as the disease has advanced, she's stopped and gone back the other way." A year after the diagnosis, Alara is non-verbal, incontinent, and wheelchair-bound, and must consume food through a nasogastric tube to her stomach. She is unable to play, read, write, or bear her own weight. The speed of the disease's progression has been a shock to her family, but Alara is unaware of her condition due to the cognitive effects - her mind is now similar to that of an 18-month-old, according to her mother. "That's the only good thing about it - she has no clue that it's happening," Haylei said. "But when family comes and sees her, there's such a huge difference from one visit to the next." Haylei says Alara's 12-year-old sister, Mackenzie, has found the process especially difficult. Alongside her partner, Justin Sams, Haylei has done everything to ensure Alara is as comfortable as possible, with the support of Kerri and Alara's father Darcy Kelly. Already they have secured a wheelchair and specialised car seat from the NDIS, but other essential equipment, like a shower commode, neck support, hoist, and wheeled walker, has all been loaned from the community, or need to be hired through the NDIS. A fundraiser event, called Alara's Batten Ball, will be held at the Veolia Arena on Saturday, August 23 to help raise money for vital medical treatments and support, as well as spread awareness of the disease and Alara's story. The ball will include a silent auction, raffle prizes, and live music from local musician Jamie Agius. Haylei says the support of family, friends, colleagues, and the broader community has been overwhelming so far. The fundraiser was initially intended to raise money for a bigger car to fit Alara's wheelchair, but the generous donation of a Kia Carnival from the MacDougall Foundation and Sleapy's Foundation has allowed the family to focus on securing other crucial equipment. Haylei says the act of generosity came as an enormous shock. "I honestly can't thank them enough," she said. The Crescent School, where Alara is enrolled, has also been "amazing" in providing the necessary support, according to both Haylei and Kerri. Haylei also pays tribute to her partner Justin, who has been by her side throughout the difficult journey. "None of this would've been possible without him," she said. Batten Disease is caused by a genetic mutation that allows cellular waste to build up in the brain. There are 13 known strains of the disorder, all with varying symptoms. Alara's strain, called CLN6, is exceedingly rare - she is one of only two people who have been diagnosed in Australia, and only around 125 cases have been recorded worldwide. In 2018, a revolutionary enzyme-replacement treatment for another more common strain - CLN2 - was approved in Australia, which slows the progression of the disease. While no effective treatment for CLN6 has yet been found in Australia, Haylei and Kerri are hopeful that research for a cure continues. But for now, the family is doing what they can to enjoy their time with Alara while giving her the support she needs. The Taylors make regular trips from Marulan to Sydney for specialist care and to Goulburn Base Hospital whenever Alara accidentally pulls her nasogastric tube out - a common occurrence, according to her grandmother. Kerri says the thought of losing her granddaughter is devastating. "It's really hard to see her and know we might not have her around soon," she said "But while she's here, we'll do what we can to make her comfortable." Alara's Batten Ball fundraiser will begin at 5pm on Saturday, August 23 at Veolia Arena. If you would like to donate to help support Alara and her family, please find the online GoFundMe page 'Alara's Batten Battle.' Kerri Taylor smiles when she talks of her granddaughter, Alara. Alara Kelly, age five, loves blowing bubbles and watching Bluey and Peppa Pig, according to Kerri, as well as spending time with her mother and older sister. "She's always happy, always smiling," Kerri said. "It's impossible to get the smile off her face." Alara, from Marulan in the NSW southern highlands, was diagnosed with Batten Disease in 2024 - an extremely rare neurodegenerative disorder with no known cure. The fatal disease primarily affects the nervous system, resulting in progressive cognitive decline, seizures, and loss of physical function over time. The expected lifespan for Alara's strain of the disease is between 10 and 16 years. Alara's mother, Haylei Taylor, says watching the progression in her daughter has been heartbreaking. "She was a normal, healthy kid before, developing like other kids," Haylei said. "But as the disease has advanced, she's stopped and gone back the other way." A year after the diagnosis, Alara is non-verbal, incontinent, and wheelchair-bound, and must consume food through a nasogastric tube to her stomach. She is unable to play, read, write, or bear her own weight. The speed of the disease's progression has been a shock to her family, but Alara is unaware of her condition due to the cognitive effects - her mind is now similar to that of an 18-month-old, according to her mother. "That's the only good thing about it - she has no clue that it's happening," Haylei said. "But when family comes and sees her, there's such a huge difference from one visit to the next." Haylei says Alara's 12-year-old sister, Mackenzie, has found the process especially difficult. Alongside her partner, Justin Sams, Haylei has done everything to ensure Alara is as comfortable as possible, with the support of Kerri and Alara's father Darcy Kelly. Already they have secured a wheelchair and specialised car seat from the NDIS, but other essential equipment, like a shower commode, neck support, hoist, and wheeled walker, has all been loaned from the community, or need to be hired through the NDIS. A fundraiser event, called Alara's Batten Ball, will be held at the Veolia Arena on Saturday, August 23 to help raise money for vital medical treatments and support, as well as spread awareness of the disease and Alara's story. The ball will include a silent auction, raffle prizes, and live music from local musician Jamie Agius. Haylei says the support of family, friends, colleagues, and the broader community has been overwhelming so far. The fundraiser was initially intended to raise money for a bigger car to fit Alara's wheelchair, but the generous donation of a Kia Carnival from the MacDougall Foundation and Sleapy's Foundation has allowed the family to focus on securing other crucial equipment. Haylei says the act of generosity came as an enormous shock. "I honestly can't thank them enough," she said. The Crescent School, where Alara is enrolled, has also been "amazing" in providing the necessary support, according to both Haylei and Kerri. Haylei also pays tribute to her partner Justin, who has been by her side throughout the difficult journey. "None of this would've been possible without him," she said. Batten Disease is caused by a genetic mutation that allows cellular waste to build up in the brain. There are 13 known strains of the disorder, all with varying symptoms. Alara's strain, called CLN6, is exceedingly rare - she is one of only two people who have been diagnosed in Australia, and only around 125 cases have been recorded worldwide. In 2018, a revolutionary enzyme-replacement treatment for another more common strain - CLN2 - was approved in Australia, which slows the progression of the disease. While no effective treatment for CLN6 has yet been found in Australia, Haylei and Kerri are hopeful that research for a cure continues. But for now, the family is doing what they can to enjoy their time with Alara while giving her the support she needs. The Taylors make regular trips from Marulan to Sydney for specialist care and to Goulburn Base Hospital whenever Alara accidentally pulls her nasogastric tube out - a common occurrence, according to her grandmother. Kerri says the thought of losing her granddaughter is devastating. "It's really hard to see her and know we might not have her around soon," she said "But while she's here, we'll do what we can to make her comfortable." Alara's Batten Ball fundraiser will begin at 5pm on Saturday, August 23 at Veolia Arena. If you would like to donate to help support Alara and her family, please find the online GoFundMe page 'Alara's Batten Battle.' Kerri Taylor smiles when she talks of her granddaughter, Alara. Alara Kelly, age five, loves blowing bubbles and watching Bluey and Peppa Pig, according to Kerri, as well as spending time with her mother and older sister. "She's always happy, always smiling," Kerri said. "It's impossible to get the smile off her face." Alara, from Marulan in the NSW southern highlands, was diagnosed with Batten Disease in 2024 - an extremely rare neurodegenerative disorder with no known cure. The fatal disease primarily affects the nervous system, resulting in progressive cognitive decline, seizures, and loss of physical function over time. The expected lifespan for Alara's strain of the disease is between 10 and 16 years. Alara's mother, Haylei Taylor, says watching the progression in her daughter has been heartbreaking. "She was a normal, healthy kid before, developing like other kids," Haylei said. "But as the disease has advanced, she's stopped and gone back the other way." A year after the diagnosis, Alara is non-verbal, incontinent, and wheelchair-bound, and must consume food through a nasogastric tube to her stomach. She is unable to play, read, write, or bear her own weight. The speed of the disease's progression has been a shock to her family, but Alara is unaware of her condition due to the cognitive effects - her mind is now similar to that of an 18-month-old, according to her mother. "That's the only good thing about it - she has no clue that it's happening," Haylei said. "But when family comes and sees her, there's such a huge difference from one visit to the next." Haylei says Alara's 12-year-old sister, Mackenzie, has found the process especially difficult. Alongside her partner, Justin Sams, Haylei has done everything to ensure Alara is as comfortable as possible, with the support of Kerri and Alara's father Darcy Kelly. Already they have secured a wheelchair and specialised car seat from the NDIS, but other essential equipment, like a shower commode, neck support, hoist, and wheeled walker, has all been loaned from the community, or need to be hired through the NDIS. A fundraiser event, called Alara's Batten Ball, will be held at the Veolia Arena on Saturday, August 23 to help raise money for vital medical treatments and support, as well as spread awareness of the disease and Alara's story. The ball will include a silent auction, raffle prizes, and live music from local musician Jamie Agius. Haylei says the support of family, friends, colleagues, and the broader community has been overwhelming so far. The fundraiser was initially intended to raise money for a bigger car to fit Alara's wheelchair, but the generous donation of a Kia Carnival from the MacDougall Foundation and Sleapy's Foundation has allowed the family to focus on securing other crucial equipment. Haylei says the act of generosity came as an enormous shock. "I honestly can't thank them enough," she said. The Crescent School, where Alara is enrolled, has also been "amazing" in providing the necessary support, according to both Haylei and Kerri. Haylei also pays tribute to her partner Justin, who has been by her side throughout the difficult journey. "None of this would've been possible without him," she said. Batten Disease is caused by a genetic mutation that allows cellular waste to build up in the brain. There are 13 known strains of the disorder, all with varying symptoms. Alara's strain, called CLN6, is exceedingly rare - she is one of only two people who have been diagnosed in Australia, and only around 125 cases have been recorded worldwide. In 2018, a revolutionary enzyme-replacement treatment for another more common strain - CLN2 - was approved in Australia, which slows the progression of the disease. While no effective treatment for CLN6 has yet been found in Australia, Haylei and Kerri are hopeful that research for a cure continues. But for now, the family is doing what they can to enjoy their time with Alara while giving her the support she needs. The Taylors make regular trips from Marulan to Sydney for specialist care and to Goulburn Base Hospital whenever Alara accidentally pulls her nasogastric tube out - a common occurrence, according to her grandmother. Kerri says the thought of losing her granddaughter is devastating. "It's really hard to see her and know we might not have her around soon," she said "But while she's here, we'll do what we can to make her comfortable." Alara's Batten Ball fundraiser will begin at 5pm on Saturday, August 23 at Veolia Arena. If you would like to donate to help support Alara and her family, please find the online GoFundMe page 'Alara's Batten Battle.' Kerri Taylor smiles when she talks of her granddaughter, Alara. Alara Kelly, age five, loves blowing bubbles and watching Bluey and Peppa Pig, according to Kerri, as well as spending time with her mother and older sister. "She's always happy, always smiling," Kerri said. "It's impossible to get the smile off her face." Alara, from Marulan in the NSW southern highlands, was diagnosed with Batten Disease in 2024 - an extremely rare neurodegenerative disorder with no known cure. The fatal disease primarily affects the nervous system, resulting in progressive cognitive decline, seizures, and loss of physical function over time. The expected lifespan for Alara's strain of the disease is between 10 and 16 years. Alara's mother, Haylei Taylor, says watching the progression in her daughter has been heartbreaking. "She was a normal, healthy kid before, developing like other kids," Haylei said. "But as the disease has advanced, she's stopped and gone back the other way." A year after the diagnosis, Alara is non-verbal, incontinent, and wheelchair-bound, and must consume food through a nasogastric tube to her stomach. She is unable to play, read, write, or bear her own weight. The speed of the disease's progression has been a shock to her family, but Alara is unaware of her condition due to the cognitive effects - her mind is now similar to that of an 18-month-old, according to her mother. "That's the only good thing about it - she has no clue that it's happening," Haylei said. "But when family comes and sees her, there's such a huge difference from one visit to the next." Haylei says Alara's 12-year-old sister, Mackenzie, has found the process especially difficult. Alongside her partner, Justin Sams, Haylei has done everything to ensure Alara is as comfortable as possible, with the support of Kerri and Alara's father Darcy Kelly. Already they have secured a wheelchair and specialised car seat from the NDIS, but other essential equipment, like a shower commode, neck support, hoist, and wheeled walker, has all been loaned from the community, or need to be hired through the NDIS. A fundraiser event, called Alara's Batten Ball, will be held at the Veolia Arena on Saturday, August 23 to help raise money for vital medical treatments and support, as well as spread awareness of the disease and Alara's story. The ball will include a silent auction, raffle prizes, and live music from local musician Jamie Agius. Haylei says the support of family, friends, colleagues, and the broader community has been overwhelming so far. The fundraiser was initially intended to raise money for a bigger car to fit Alara's wheelchair, but the generous donation of a Kia Carnival from the MacDougall Foundation and Sleapy's Foundation has allowed the family to focus on securing other crucial equipment. Haylei says the act of generosity came as an enormous shock. "I honestly can't thank them enough," she said. The Crescent School, where Alara is enrolled, has also been "amazing" in providing the necessary support, according to both Haylei and Kerri. Haylei also pays tribute to her partner Justin, who has been by her side throughout the difficult journey. "None of this would've been possible without him," she said. Batten Disease is caused by a genetic mutation that allows cellular waste to build up in the brain. There are 13 known strains of the disorder, all with varying symptoms. Alara's strain, called CLN6, is exceedingly rare - she is one of only two people who have been diagnosed in Australia, and only around 125 cases have been recorded worldwide. In 2018, a revolutionary enzyme-replacement treatment for another more common strain - CLN2 - was approved in Australia, which slows the progression of the disease. While no effective treatment for CLN6 has yet been found in Australia, Haylei and Kerri are hopeful that research for a cure continues. But for now, the family is doing what they can to enjoy their time with Alara while giving her the support she needs. The Taylors make regular trips from Marulan to Sydney for specialist care and to Goulburn Base Hospital whenever Alara accidentally pulls her nasogastric tube out - a common occurrence, according to her grandmother. Kerri says the thought of losing her granddaughter is devastating. "It's really hard to see her and know we might not have her around soon," she said "But while she's here, we'll do what we can to make her comfortable." Alara's Batten Ball fundraiser will begin at 5pm on Saturday, August 23 at Veolia Arena. If you would like to donate to help support Alara and her family, please find the online GoFundMe page 'Alara's Batten Battle.'
Yahoo
7 days ago
- General
- Yahoo
Swindon family of girl with rare disease 'horrified' at latest trial update
The Swindon family of a young girl with a rare brain disease welcomed the news that her trial of lifesaving treatment will continue indefinitely. Addy Clarke is just one of 100 children in the world to be diagnosed with Batten Disease (CLN2), which is gradually taking away her ability to talk, eat and walk independently, and see. Her parents Hayley and Dave have previously spoken to the Adver about their heartbreak at seeing their daughter fade before their eyes while she is supported by vital cerliponase alfa treatments. Earlier this month, they celebrated NICE and the NHS coming to a commercial agreement to continue that treatment for Addy and all other children with CLN2 after the trial ends in 2025, describing the news as 'amazing'. But they were saddened to learn that the same access to the treatment would not be given to any child diagnosed after January 1, 2026. Recommended reading Building 700 homes at old golf course 'best option' for the area Family pays tribute to cyclist killed in collision by Wiltshire driver Wedding venue can continue to host events after planning appeal NICE explained that although its committee took into account the condition's rarity, severity and the effect of the treatment on quality and length of life, the most likely cost-effective estimate based on the proposed price of the medicine is not within what it considers to be an acceptable use of NHS resources. In a statement on Addy's Batten Adventure Facebook page, the Clarke family said: 'Whilst we are happy for our own little Addy, we sadly know firsthand the devastation that this news can cause on a family - which would be made all the worse if you knew other children in the country were on the same treatment that your child couldn't access because of the timing they were diagnosed, and cost. 'For us, this treatment has never been simply just about our Addy, but all children diagnosed with this earth-shattering disease - therefore we will fight on. 'The decisions by NICE have been horrific and it feels like they are trying to manipulate the pharmaceutical companies by using families as pawns in game. 'Thank you for all your support you have shown us through the ongoing questions, the donations, prayers, meals and many other things over the past five years of this journey. 'We take a big deep breath, gather our thoughts and go again.' The family has met with South Swindon MP Heidi Alexander as they try to raise awareness of this disparity in the treatment of children with the rare disease. As for Addy herself, she recently celebrated her ninth birthday by having a party with her friends and classmates at Swindon's hydrotherapy pool.
Yahoo
19-05-2025
- Health
- Yahoo
Helen's Pink Sky Foundation: Lemonade stands to raise money for Batten disease research
The Brief A nonprofit aims to raise money for research battling Batten disease. Helen's Pink Sky Foundation aims to help find a cure and extend Helen's life past the projected 10-12 years old. The foundation is inviting people to host a pink lemonade stand for their fundraiser from May 30-June 1. EDINA, Minn. (FOX 9) - A girl from Edina with a rare disease is celebrating her 4th birthday at the end of the month, and her family is asking for the community's help to fund research battling that disease. Big picture view With the love for the color pink in mind, Helen's parents started the Helen's Pink Sky Foundation in hopes of finding a cure and extending their daughter's life beyond the expected 10-12 years old. As part of their first fundraiser, they are inviting people far and wide to host pink lemonade stands and raise much-needed funds for critical research from May 30-June 1. The backstory When Helen was around 3-years-old, her parents started to notice she was behind on her speech development, and she was clumsier than before. Other than the slight developmental delay with speech and clumsiness, she was normal. She started speech therapy to help with her talking, and that first day of speech therapy was the first seizure she ever had. By the fall of 2024, Helen had two seizures and was diagnosed with Batten disease. According to her mom, Stephanie Born, the disease is so rare that most people have no idea what it is. The Born's realized none of the nurses Helen had at Mayo Clinic have ever treated a child with Batten disease, and she is the only child being treated with enzyme replacement therapy in Minnesota. Scientists and researchers have a hard time getting funding or grants that would help with their research because of how rare the disease is. There are also challenges to helping launch clinical trials for children with Batten disease, which is a barrier to funding FDA approvals for additional treatments and/or a cure. More information can be found on the foundation's website.
BBC News
16-05-2025
- Health
- BBC News
Swindon girl with Batten Disease will continue to get vital drug
A family has been told their child will continue to get access to a drug which she began taking as part of a trial, and is helping to keep her Addy Clarke, from Swindon, has Batten Disease - a rare degenerative disease that has no agreement has been reached that existing patients will continue to have the drug Brineura, which costs £500,000 per patient per year, via the it has not been recommended for future patients "due to its high price and the limited evidence of long-term effectiveness", said the National Institute for Health and Care Excellence (NICE). Addy's mother Hayley Clarke said she is "absolutely thrilled and relieved and so thankful" at the news but wants to get access to the drug for other children. "There's still another half a fight to go to get it secured for all children, future children most importantly," she said the family could have lost Addy by now, that she should be blind, but her eyesight has been preserved and she can still make herself of the main symptoms of Batten Disease is childhood dementia. "We're just so thankful for the time that this drug is giving us with her," said Hayley, who also told the BBC about her daughter's passions for lions and swimming."I think I'm still processing that it's a yes for our daughter," she added."[I'm] almost trying to be really guarded with hope because we've had too much shattered hope along the way."Hayley said the family has had a lot of support from people around them as well as local hospice charities and the council. The family went with other with members with Batten Disease to Westminster to ask for continued access to guidance from NICE did not recommend using it for future patients due to cost and long-term effectiveness, but said it had reached a deal with the NHS and manufacturer BioMarin for those already using it and anyone signed up by the end of 2025. Helen Knight, director of medicines evaluation at NICE said: "We know this is not entirely the news people in the Batten Disease community were hoping for. However, this is not the end of the story. We will continue to work with all parties towards a solution."The charity Batten Disease Family Association said it was pleased with the agreement, but said as the NICE guidance is a draft and not final, it will continue to push to make Brineura accessible to all children who need it.
BBC News
16-05-2025
- Health
- BBC News
Kettering mum's relief as treatment for rare disease is extended
A mother says she and her family can "live again" after access to her son's life-enhancing treatment for a rare genetic disorder was access to the drug Brineura, which slows the progress of Batten disease, was set to end this month but NICE and NHS England have now come to new agreement with the drug's of those who receives it is Isaac, eight, who has CLN2 Batten disease, which was diagnosed in August mother Aimee Tilley, from Kettering in Northamptonshire, said: "We know it's not a cure, we still see regression, but it's a huge amount slower, so he's gaining years, not just days or weeks." Batten disease, a rare genetic disorder, causes a rapid decline in a child's ability to walk, talk and see, and is estimated to affect about 40 children in the UK - with an average life expectancy of about 10 is the only approved treatment that slows the condition's progress. The new agreement will mean those on the drug, and those who start the treatment before the end of the year, can receive it on a permanent Tilley said: "We are extremely relieved that Isaac is going to continue to have this treatment."This black cloud that we've had hanging over us has gone. We feel like we can live again." 'We have won this battle' NICE said it and NHS England would continue to work with BioMarin, which makes the drug, on "a solution to secure access to all future patients but at the moment the treatment is not considered cost effective".Ms Tilley says her family "will not stop fighting for the children of the future".She said: "They deserve it just as much as the children now and we have won this battle, but we will win the war."Ms Tilley said Isaac was "having seizures, losing his mobility, he can still walk with a walker or walk holding our hands [and] he has now gone blind".But, she added: "He's happy. He still enjoys theme parks, going horse riding and he still does a lot of things that children of his age can do we just have to adapt them for him." Helen Knight, director of medicines evaluation at NICE, said she was "pleased" an agreement had been added that NICE and NHS England remained "committed to working with the company to try to reach a long-term deal that will give access to [Brineura] to all eligible people" after December. Follow Northamptonshire news on BBC Sounds, Facebook, Instagram and X.
