Latest news with #Menkes
STV News
15 hours ago
- Health
- STV News
Mum left 'helpless' after baby son diagnosed with rare life-limiting disease
An Aberdeen mum has called for more support to be made available for those with rare conditions after her son was born with a life-limiting disease. On August 30 last year, Bobbie Hardingham and Callum Booth welcomed Tommy Booth into the world. He was born four weeks prematurely and kept in Aberdeen Royal Infirmary's neonatal unit due to his low body temperature. After undergoing numerous tests, medical teams were unable to identify the issue. Less than one month after welcoming their boy into the world, the couple returned to the hospital as Tommy was having difficulty breathing and his body temperature dropped to 28C. Tommy was airlifted to Edinburgh for treatment and further tests and scans. Doctors still had difficulty identifying the route of the youngster's problem. STV News Tommy Booth was diagnosed with Menkes disease. Finally, a genetic test was carried out, which revealed that Tommy had an adrenal deficiency affecting his kidneys. The family believed Tommy would be on steroids for the rest of his life however on April 2, the couple were told it was 'not good news' by doctors. Tommy was diagnosed with Menkes disease, a rare, inherited X-linked recessive disorder that affects copper metabolism. Symptoms include kinky and sparse hair, hypothermia, developmental delays, and seizures. According to the National Organization for Rare Disorders, the condition affects one in 35,000 live male births. A majority of children born with Menkes disease do not live past the age of three. Bobbie says she felt 'helpless' after being told her son had an incurable condition. The mum told STV News: 'I just broke down, I couldn't believe it. 'I didn't understand it fully at the time. When the doctors said there was nothing they could do, you just felt helpless and felt you'd done something wrong. STV News Tommy Booth received the diagnosis following a genetic test. 'But of course, we haven't done anything wrong, this just happened. There aren't any words to describe how you feel at that time. You just feel numb. 'There were no leaflets about support, it just felt isolating.' The family believe the ordeal their nine-month-old son is facing has completely shifted their perspective on life. Bobbie added: 'There were things I'd moan about in the morning that I wouldn't complain about anymore. 'When you get hit with something like that, it changes you. To be honest, I don't know how we are coping. 'Our family and friends have been encouraging us and supporting us. If we didn't have them around us, I don't know how we'd continue.' Tommy's condition has deteriorated over time, meaning he is unable to sit up, grab things or smile. He has also started to have seizures, and his parents believed at one point, he would no longer be able to eat. The 36-year-old mum hopes sharing her son's story will help other families across the country notice the signs of the condition. Bobbie also believes that more help should be made available for those living or caring for someone with a rare condition. Bobbie said: 'We want to raise awareness of this awful disease. 'We need to make Tommy as happy as we can. As a family, we can make as many memories and show Tommy as much love as we can. 'We need to make sure that Tommy is as comfortable as possible. For children with rare conditions, there isn't that support. STV News Tommy's mum believes more should be done to support those with rare conditions. 'There's hundreds and thousands of children with conditions that don't have the support they need.' The Scottish Government says it remains 'committed' to raising awareness of rare conditions and ensuring support is available. A Scottish Government spokesperson said: 'We are very sorry to hear about this family's experience, and our thoughts are with them as they navigate the challenges of this extremely rare and life-limiting condition. 'We recognise that living with a rare condition can have a significant impact not only on the individual but also on their families and carers. 'That is why we are committed to improving care and support through our Rare Disease Action Plan for Scotland, which focuses on faster diagnosis, better coordination of care, increased awareness among healthcare professionals, and improved access to specialist services.' A fundraiser has been set up to support Tommy's medical needs. Get all the latest news from around the country Follow STV News Scan the QR code on your mobile device for all the latest news from around the country
Edinburgh Live
4 days ago
- Health
- Edinburgh Live
Family airlifted to Edinburgh hospital after baby struggles to breathe
Our community members are treated to special offers, promotions and adverts from us and our partners. You can check out at any time. More info A family have opened up on their devastation after being told their baby was given months to live. Bobbie Hardingham, 36, and her partner Callum Booth, 31, were left heartbroken when their nine-month old son Tommy was given a devastating diagnosis. This came after Tommy had 'subtle, but worrying' health problems following his birth, reports the Daily Record. Doctors have since told his parents he has Meknes disease, which affects copper absorption in the body and stops the normal development of nerves and the brain. Babies face severe neurological symptoms and a drastically shortened life expectancy - usually between six months to three years. Bobbie said: "We were told he had Menkes disease. I was absolutely shocked. We had never heard of it so we didn't know what it meant at first. "When they explained that his life was limited we were devastated. It was heartbreaking to know that he may not live past an early infant." Tommy's health issues started early on, with subtle but worrying signs. "When he was first born, he struggled with feeding and had a really low temperature," Bobbie said. "They just put it down to suspected sepsis and sent us home, but he kept getting worse. (Image: Supplied/Daily Record) "We took him back in and his temperature was down to 28 degrees. He began struggling with his breathing and we were airlifted to Royal Hospital for Children and Young People in Edinburgh on September 26 for tests and scans. Still, no one could figure it out." Doctors began to run genetic tests in the background in a search for answers before the family received a life-changing call. Bobbie explained: "We were told to come into Aberdeen Royal Infirmary. One of the genetic doctors noticed his hair, took pictures, and tested it. That's when it came back positive for Menkes." With no cure, the couple were initially told there was little that could be done. But Bobbie refused to accept defeat. She continued: "At first the NHS told us that with Menkes disease they would only recommend copper injections if it was diagnosed within the first 28 days because that is when it is most effective. Due to Tommy getting diagnosed at eight months, they said we were outwith the guidelines. Sign up for Edinburgh Live newsletters for more headlines straight to your inbox "I couldn't sit back as a mum and accept that. I did my own research and reached out to other parents whose child where diagnosed late with Menkes. They all recommended copper injections. I fought and fought with the NHS until they submitted a referral, and we finally got them approved. He started them last week." The injections aren't a cure, but they may help control Tommy's frequent seizures and give him a better quality of life. The couple are now exploring cutting-edge treatments abroad, including gene therapy being trialled in the US and Germany. She added: "We've been in touch with specialists. If there's a breakthrough, we want to be ready to travel at a moment's notice. That's why we have started a fundraiser. (Image: Supplied) "The money we raise will help with that, and also to keep him comfortable." They've launched a GoFundMe titled "Help Us Give Tommy the Best Life Possible", and the response has moved them. Bobbie said: "The support from family, friends and complete strangers has been absolutely amazing. "I thought because it's such a rare disease, it wouldn't reach many people but it has. Hopefully by sharing Tommy's story we can raise awareness too." Join Edinburgh Live's Whatsapp Community here and get the latest news sent straight to your messages. Their fundraiser will help cover essential care, make special family memories, and when the time comes, if there is no breakthrough, help them give their little boy the send-off he deserves. She finished: "When the time comes for his funeral, although we don't like to talk about it, we want to give him a big send-off with a lovely headstone. "Some days we are just absolutely devastated, but we're trying to give him the best life. We don't have days to spare." To support the family, visit their GoFundMe page here.
Daily Record
4 days ago
- Health
- Daily Record
Mum opens up on moment she was told baby boy may only have months to live
Little Tommy Booth has been diagnosed with Menkes disease. A devastated mum has told of the moment her baby was given months to live. Mum Bobbie Hardingham, 36, and dad Callum Booth, 31 from Aberdeen, were left heartbroken when their nine-month old son Tommy was diagnosed with Menkes disease at Aberdeen Royal Infirmary on April 2. The rare and life-limiting genetic condition affects copper absorption in the body stopping the normal development of nerves and the brain. Babies face severe neurological symptoms and a drastically shortened life expectancy - usually between six months to three years. Bobbie said: "We were told he had Menkes disease. I was absolutely shocked. We had never heard of it so we didn't know what it meant at first. "When they explained that his life was limited we were devastated. It was heartbreaking to know that he may not live past an early infant." Tommy's health issues started early on, with subtle but worrying signs. "When he was first born, he struggled with feeding and had a really low temperature," Bobbie said. "They just put it down to suspected sepsis and sent us home, but he kept getting worse. "We took him back in and his temperature was down to 28 degrees. He began struggling with his breathing and we were airlifted to Royal Hospital for Children and Young People in Edinburgh on September 26 for tests and scans. Still, no one could figure it out." Doctors began to run genetic tests in the background in a search for answers before the family received a life-changing call. Bobbie explained: "We were told to come into Aberdeen Royal Infirmary. One of the genetic doctors noticed his hair, took pictures, and tested it. That's when it came back positive for Menkes." With no cure, the couple were initially told there was little that could be done. But Bobbie refused to accept defeat. She continued: "At first the NHS told us that with Menkes disease they would only recommend copper injections if it was diagnosed within the first 28 days because that is when it is most effective. Due to Tommy getting diagnosed at eight months, they said we were outwith the guidelines. "I couldn't sit back as a mum and accept that. I did my own research and reached out to other parents whose child where diagnosed late with Menkes. They all recommended copper injections. "I fought and fought with the NHS until they submitted a referral, and we finally got them approved. He started them last week." The injections aren't a cure, but they may help control Tommy's frequent seizures and give him a better quality of life. The couple are now exploring cutting-edge treatments abroad, including gene therapy being trialled in the US and Germany. She added: "We've been in touch with specialists. If there's a breakthrough, we want to be ready to travel at a moment's notice. That's why we have started a fundraiser. "The money we raise will help with that, and also to keep him comfortable." They've launched a GoFundMe titled "Help Us Give Tommy the Best Life Possible", and the response has moved them. Bobbie said: "The support from family, friends and complete strangers has been absolutely amazing. "I thought because it's such a rare disease, it wouldn't reach many people but it has. Hopefully by sharing Tommy's story we can raise awareness too." Their fundraiser will help cover essential care, make special family memories, and when the time comes, if there is no breakthrough, help them give their little boy the send-off he deserves. She finished: "When the time comes for his funeral, although we don't like to talk about it, we want to give him a big send-off with a lovely headstone. "Some days we are just absolutely devastated, but we're trying to give him the best life. We don't have days to spare." To support the family, visit their GoFundMe page - Join the Daily Record WhatsApp community! Get the latest news sent straight to your messages by joining our WhatsApp community today. You'll receive daily updates on breaking news as well as the top headlines across Scotland. No one will be able to see who is signed up and no one can send messages except the Daily Record team. All you have to do is click here if you're on mobile, select 'Join Community' and you're in! If you're on a desktop, simply scan the QR code above with your phone and click 'Join Community'. We also treat our community members to special offers, promotions, and adverts from us and our partners. If you don't like our community, you can check out any time you like. To leave our community click on the name at the top of your screen and choose 'exit group'.
Daily Mail
30-04-2025
- Entertainment
- Daily Mail
AFL WAG Jordan Ablett holds back tears during emotional Sunrise interview about son Levi's rare genetic condition: 'All we have is today'
AFL WAG Jordan Ablett struggled to hold back tears on Wednesday as she opened up about her son Levi's rare genetic condition. Jordan, who shares Levi, six, with husband, footy great Gary Ablett Jr, appeared on Sunrise to discuss Levi's diagnosis and her new memoir One Day At A Time. Just over a year after Levi was born in 2019, he was diagnosed with Menkes, a rare recessive disorder that affects copper metabolism, leading to neurodegeneration, connective tissue problems, and short life expectancy. Speaking to hosts Natalie Barr and Matt Shirvington, an emotional Jordan, 33, said that despite the couple's son being non-verbal he has already taught her and Gary so much. 'Sometimes as parents, we kind of envision the perfect outcome and we create these scenarios in our head as though they're going to happen and as though they're guaranteed,' she said. Pausing to compose herself, Jordan added that Levi's condition had helped put things into perspective. 'I think having Levi has taught me that nothing is guaranteed in life and all we really have is today,' she said. 'It's about making the most of each day and not holding so tightly onto the things in this world and our dreams and desires because they're just not guaranteed, they're not promised to us, so it's about holding those things loosely and then being able to adapt when the plan changes.' The mum of three was almost moved to tears again when Matt asked about the strength of her relationship with Gary in the face of the ordeal. 'We've definitely had our lows, and I really feel for other parents that are raising a child with a disability because I get it, I fully get it, and there are so many layers, she said. 'I think people from the outside might... sorry... kind of presume that it's so heavily physical, but it's so mental as well. 'But I could not have asked for a better husband and a better father to raise Levi and to spend my life with. 'He's been absolutely incredible. Not once has he ever made it about him and about those plans and those things that we anticipated — that's just irrelevant.' Admitting that dealing with Levi's diagnosis had been a 'struggle', Jordan added it was one she could not have fought with out such a strong support network around her. 'It was tough, but thankfully I was just surrounded by the most amazing people in my friends and family, and even the greater community was incredible,' she said. Jordan kept her son's medical diagnosis under wraps as she learned to 'process' his heartbreaking condition, but revealed to VWeekend last week she was ready to talk about it. 'It was shocking… of course it was hard to first accept,' Jordan said of the diagnosis they received from his doctors in May 2020, adding the medication he is currently on will only 'slow the progression'. 'I know we are blessed and I know that when those hard days come, and they do, it's so important to not give into the emotions that follow and let them dictate your day and take away from the gift that it is,' she continued. 'I always knew deep down that I would eventually be open and transparent about it… I don't know what good can possibly come from not being that.' According to The Menkes Foundation, Menkes is a recessive disease linked to the X chromosome and is caused by gene mutations of the copper transporter ATP7A. The condition is characterised by distinctive clinical features, including sparse and de-pigmented hair, and connective tissue problems. Symptoms also include severe neurological issues such as seizures, hypotonia, failure to thrive, and neurodevelopmental delays. 'He's been absolutely incredible. Not once has he ever made it about him and about those plans and those things that we anticipated — that's just irrelevant,' she said Mortality is high in untreated Menkes disease, with many patients dying before the age of three years old. There is currently no complete cure for the disorder, but patients who are treated with parenteral copper histidinate (CuHis) can increase survival and lessen neurological symptoms if initiated early. Aside from Levi, Jordan and Gary also share daughter Grace, four, and son Ezra, two.
News.com.au
30-04-2025
- Entertainment
- News.com.au
Gary Ablett's wife Jordan fights tears over question about their marriage
Jordan Ablett has become overwhelmed with emotion after being asked about her relationship with AFL icon Gary Ablett on breakfast TV. The inspirational figure has poured her heart out in recent weeks with her book One Day at a Time being released this month. The 33-year-old mum-of-three last week revealed the condition her son Levi has lived with since he was born — a detail that the family had not previously divulged since their precious boy was first diagnosed in 2020. The Good Friday appeal ambassador has dealt with more hardship than most parents will ever face — and has been brave in sharing her journey. Ablett's Instagram followers will be very familiar with the sight of her in tears while speaking in front of the camera — but Wednesday morning's interview with Channel 7's Sunrise shows she will always have more tears to shed. Ablett told Sunrise hosts Matt Shirvington and Nat Barr about the difficult months that followed Levi's diagnosis in 2020 — but it was a question about her husband where the interview turned emotional. You can watch the emotional moment in the video player above. She said her relationship with Geelong Cats legend husband Gary remains 'so strong'. 'To be honest with you, we've definitely had our lows, and I really feel for other parents that are raising a child with a disability because I get it, I fully get it, and there are so many layers,' Jordan said, before choking back tears. 'I think people from the outside might... sorry... kind of presume that it's so heavily physical, but it's so mental as well. 'But I could not have asked for a better husband and a better father to raise Levi and to spend my life with. 'He's been absolutely incredible; not once has he ever made it about him and about those plans and those things that we anticipated — that's just irrelevant. 'He has been incredible at embracing our life now and we're both so excited for our future with Levi as well. 'It's not just about what we've lost, but it's about almost what we've gained as well.' Jordan has repeatedly spoken about the ways Levi has blessed their lives and spoke about the troubles faced when raising a child with a rare disease. She last week announced her son has Menkes – a degenerative illness that affects Levi's respiratory system. The disease devastatingly results in a shorter life expectancy. Those with Menkes struggle to absorb copper, an essential mineral for the human body. Those that live with low copper levels in their system can face a number of deficiencies, including neurological function. It is unlikely Levi will ever speak and the couple made the difficult decision to not send him to school last year while they continue to care for him. Ablett says it has taken her this long to process everything to a point where she is comfortable talking about Menkes. 'I always knew deep down that I would eventually be open and transparent about it. I don't know what good can possibly come from not being that.' Ablett told The Herald Sun. 'I didn't want people to misinterpret me holding onto that information as being ashamed of Levi. It was purely a matter of me just trying and needing to process it all first myself. I knew that once I could do that, I'd be in a position where I could then offer encouragement and hope to others through our journey.' The diagnosis, delivered in May 2020, came around the same time Jordan was caring for her mum before she died of lung cancer the same year. It tested every facet of the couple's relationship — but they have never been broken. Gary Ablett Jr — whose father was a high-flying full forward in the 1980s and 90s — is one of the great players of the modern era. Now 40 years old, Ablett Jr played 357 games for Geelong and the Gold Coast, winning two flags with the Cats and a Brownlow Medal with each of his clubs. He and Jordan also have a daughter Grace and son Ezra.
