Latest news with #geneticdisorder
Daily Mail
5 days ago
- Health
- Daily Mail
Horror as Top Chef star reveals daughter, 8, has rare disease that is 'disintegrating' her bones
One of the former contestants on the competition show Top Chef has been facing a family challenge. Hosea Rosenberg's daughter Sophia, eight, is battling a rare disease. On Thursday Rosenberg discussed how his child has Multicentric Carpotarsal Osteolysis (MCTO). It is a genetic disorder characterized by progressive bone loss, primarily affecting the carpal (wrist) and tarsal (ankle) bones. It's often misdiagnosed as juvenile rheumatoid arthritis due to similar initial symptoms like joint pain and swelling. Sophia could be seen pictured in a hospital bed drawing as well as playing with her two pug dogs. Other photos showed her on a beach with a friend. '"How is your daughter Sophie doing?" This is a question I am asked constantly. The answer is complicated. As with many things in life, it all depends on perspective,' Rosenberg - who was a winner of season five of Top Chef - began his update. 'Compared to normal, healthy 8-year old kids, she's not good. Her feet haven't grown in years (toddler size), her hands are starting to show disfigurement and they are very weak,' he continued. And Sophia can't do things that normal kids can do. 'She has trouble with stairs, can't ride a bike, and needs help opening things. She gets tired and can't walk long distances. Her kidneys are slowly failing. She's missing groups of bones entirely.' Sophia loves school, dance and laughing, is was added. 'Today, as she does every 6 weeks, she got an infusion at Children's Hospital Colorado. Twice every day, she has to take multiple medications,' Rosenberg continued. 'She wears splints on her legs and arms when she sleeps.' 'She wears braces on her legs every single day. She sees different therapists every week. 'She is constantly in and out of doctor's offices and hospitals. Her bones are slowly disintegrating and we haven't figured out how to stop it.' But the proud dad said all he knows is that his daughter is doing her best and she has all the love and support possible. 'So how is Sophie doing? She's amazing,' Rosenberg concluded his caption. Rosenberg is the owner and executive chef of restaurants in Boulder. His menus highlight local, seasonal ingredients with an emphasis on sustainable sourcing. Hosea's culinary path began while earning a degree in Engineering Physics at the University of Colorado. In April 2020, Rosenberg revealed to his fans that his then-3-year-old daughter had been diagnosed with MCTO.
Yahoo
6 days ago
- Health
- Yahoo
Only on News 19: Family shares experience with daughter's rare genetic disorder
MADISON, Ala. (WHNT) — As a parent, you only want what's best for your child, but when things don't go as planned, it can be defeating. That's the case for a family from Madison and their daughter, who's living with an extremely rare genetic disorder. Maddox was born completely healthy, while his sister Emery is fighting an extremely rare genetic mutation. Judge denies landowners' request to be removed from Belle Mina quarry lawsuit 'Getting that diagnosis was devastating,' said Valerie Morris. 'We were led to believe for a while that there was no diagnosis from multiple specialists, and then to get a diagnosis like this.' Morris is Emery's mom. She said Emery was born with what's known as KIF1A-associated neurological disorder. 'Her twin brother does not have it, and her little brother does not have it either,' she said. 'So her genetic mutation was called de-novo, which is just a spontaneous, just a random thing that happened.' It's so rare; she's the only one of three people in Alabama with the disorder. There are only around 550 people worldwide with the diagnosis. Huntsville woman recalls her first concert – 'the infamous and legendary' Ozzy Osbourne at VBC 'She faces speech delays, cognitive delays, issues with gross motor skills, fine motor skills, and then of course, her vision issues too,' said Morris. Valerie said she pictured a full life for her daughter. 'You feel like you're losing the life that you thought your child would have, and so now it's not only just losing that, but having to accept this new life that is just going to be so challenging for her,' she said. No matter the challenges, nothing can stop Emery… especially with the help of her other half, Maddox. 'She's very social and very friendly,' she said. 'She's a happy girl. She loves going to school. She goes to our local preschool, and she actually is in a class with her brother.' That's not to say it's been easy. Her whole life, Emery has worked hard for every ounce of progress. 📲 to stay updated on the go. 📧 to have news sent to your inbox. 'She never complains,' said Valerie. 'She goes to all of her therapy appointments and just tries so hard, and she just has the sweetest personality.' Although now, three years after the family received her diagnosis, they have a glimmer of hope they didn't think existed. 'They create this medication that usually takes like 18 months to process, and it's literally made specifically for Emery and her genetic makeup,' she said. The medicine comes from a California nonprofit called 'n-Lorem.' The founder, Stan Crooke, said they personalize each patient's prescription. No injection is a 'one size fits all.' 'Once we know the genetic cause and we know the sequence of where the problem is, we can create a genetic medicine that uses the genetic code as a zip code to target that specific problem,' said Crooke. 'n-Lorem' took Emery's case in March of 2024. So far, the nonprofit has successfully treated 11 KIF1A patients across the country, with astonishing results… some can even walk again. 'It's amazing,' said Valerie. 'I just can't believe that there are people out there who wanted to even start this nonprofit. They're doing such special and life-changing work for all these families, so to have someone who's giving options to these people who have no other way is just it's so special.' There's no guarantee how successful the medication could be, but while they wait, the family said they are grateful and taking life day by day, all while clinging to the hope of a 'more healed' tomorrow. 'She deserves every single little inch and tiny milestone that she reaches, and we just celebrate it big time,' Valerie said. Emery's family said her condition has not regressed. 'n-Lorem' is currently crafting her medication, and the family hopes it will be ready for her to try early next year. Copyright 2025 Nexstar Media, Inc. All rights reserved. This material may not be published, broadcast, rewritten, or redistributed. Solve the daily Crossword
Daily Mail
22-07-2025
- Health
- Daily Mail
How the latest Omaze Cheshire house draw could help thousands benefit from lifesaving stem cell transplants
Sofia Gardella's favourite pastimes are swimming, riding her bike and spending time with her friends. Yet Sofia, 11, wouldn't be enjoying these simple pleasures today had it not been for a lifesaving stem cell transplant nine years ago. Her parents, Claire and Fabio, were devastated to learn their baby daughter had a rare and life-threatening genetic disorder. A midwife spotted tiny marks on baby Sofia's arms and legs, 'a bit like birthmarks, but purpley', says Claire, 43, an occupational therapist, who lives in Mansfield, Nottinghamshire, with Fabio, also 43, who works in sales, and their daughters, Sofia, and Sienna, 15. Blood tests revealed the marks on her skin were caused by an extremely low level of platelets (meaning blood cannot clot properly) – and this was caused by a condition called congenital amegakaryocytic thrombocytopenia (CAMT), which meant her body produced too few bone marrow cells needed to make platelets. CAMT can be life-threatening because patients are at risk of bleeding spontaneously, even from a minor knock. The condition can also progress to affect other types of blood cells, including the white blood cells needed to fight off infections – meaning even 'mild' illnesses can become lethal. 'It was a total shock particularly as Sofia didn't look poorly at all,' says Claire. Sofia needed urgent chemotherapy to wipe out her faulty bone marrow (the spongy tissue inside the bones that plays a crucial role in producing blood cells), followed by a stem cell transplant from a donor to encourage the growth of healthy bone marrow. Without this treatment, Sofia's bone marrow would stop functioning by the time she was five – which could be fatal. 'We were told that there was a 90 per cent chance of treatment being successful – but we were very worried that they wouldn't be able to find a donor,' says Claire. When family members were found not to be a sufficiently good tissue match, doctors scoured national and international registers to find another suitable donor. It was the stem cell charity Anthony Nolan that struck proverbial gold, finding a match in Germany: a woman in her 40s. But the family had to wait another 'agonising' year until doctors deemed Sofia ready for a stem cell transplant at the age of two. 'The next year was full of anxiety,' says Claire. 'Sofia was being closely monitored and we didn't know if she would even survive the transplant.' Claire recalls her excitement when the transplant day arrived in 2016, and she watched the courier arrive at hospital with the donated stem cells for Sofia. 'I saw the courier pull up with the box,' she says. 'When the nurse brought the box into Sofia's room and opened it up, there was what looked like a bag of blood inside – we told Sofia it was a bag of magic cells.' For Sofia the treatment has been transformative. But others aren't so lucky – for while demand for stem cell donations is rocketing, supply is not keeping up. Tragically, some people die waiting – and not just because of a lack of suitable donors. In fact, 2.3 million people are on the UK registry to be stem cell donors. The problem is that, once a match is identified, a donor would be invited to attend a hospital or independent centre with specialist equipment to take the donation – but there aren't enough of these to keep up with demand. Only one in five donors on the UK registry were able to donate on the date requested in 2022-23 because of capacity issues, according to data collected by Anthony Nolan. 'Sometimes, a collection centre may not be able to offer a slot for two or three months as they are already fully booked,' says Dr Lilian Hook, director of cell, apheresis and gene therapies at NHS Blood and Transplant. Such a wait may be catastrophic for the patient who needs the transplant. 'Often, these are very sick people – and if they have to wait a couple of months more they may become too ill to undergo a transplant,' says Dr Hook. 'Unfortunately, patients sometimes deteriorate and may even die while waiting for a stem cell transplant,' adds Dr Chloe Anthias, a haematologist and stem cell transplant consultant at The Royal Marsden Hospital in London. 'All collection centres are at capacity and we badly need more slots. It's almost at crisis point.' The lack of facilities, coupled with a need for young donors with high-quality stem cells, means 70 per cent of stem cell transplants in the UK involve imported cells. 'Many come from Germany, where there is an extensive stem cell register and where donors often have a good tissue match to UK patients,' says Dr Hook. But this is complicated to organise and 'expensive', she says. Demand for stem cell transplants has risen by a third in ten years – from around 3,800 in 2013 to just under 5,000 in 2023 (the last year for which figures are available). This is partly because of improvements meaning the procedure is now suitable for more patients, but also because the use of stem cells has been vastly extended. Traditionally, stem cell transplants were used to treat blood cancers, such as leukaemia and myeloma. But they are now also used for blood disorders, such as sickle cell anaemia (where abnormally shaped red blood cells form that may block blood vessels) and rarer conditions, such as CAMT for which previously there were few treatments, says Dr Anthias. Increasingly, stem cells are being modified, too, for cancer and gene therapies. One such treatment, CAR T-cell therapy, involves harvesting and reprogramming a patient's own blood cells to fight certain blood cancers. 'All of these treatments require cell collection services, however,' says Dr Anthias, who is a donor consultant at Anthony Nolan. Giving stem cells is not as straightforward as giving blood. The donor receives injections of a hormone to stimulate the release of stem cells into the blood. Blood is then drawn from one arm using a special machine, which separates and collects the stem cells – and returns the rest of the blood to the other arm. In a minority of cases, stem cells are taken from bone marrow in a procedure that requires a general anaesthetic. There's no delay in getting them to the patient, says Dr Hook. 'The main problem lies with finding a suitable donor and collecting the cells.' But the situation looks set to improve, thanks to the new Anthony Nolan Cell Collection Centre, which opens this summer in Nottingham. The centre, which will benefit from funds raised by the ongoing Omaze Cheshire house draw, is the first in the UK dedicated entirely to cell collection for patients needing stem cell transplants and gene therapies. Omaze sells tickets for a draw to win a glamorous house somewhere around the country – previous draws have raised funds for other health charities. The new Anthony Nolan Cell Collection Centre, run in partnership with Nottingham University Hospitals NHS Trust, aims to provide 1,300 new cell collection slots a year, and will also conduct research into new cell therapies. The exact amount received by the centre will depend on how much the draw raises, but Anthony Nolan is guaranteed to receive at least £1 million – enough to keep the centre running for six months. Meanwhile, NHS Blood and Transplant is also expanding its cell collection capacity and is trying to recruit more donors. Men under 30 are particularly sought as donors because men, generally being bigger, produce more stem cells – and the younger the donor, the more effective they are. Donors from mixed and minority ethnic backgrounds are also needed because it can be harder to find a tissue match for them, says Dr Hook. Stem cell transplants are not without risks. Sofia developed graft-versus-host disease, where the donated cells attack a patient's own cells, after her first transplant in 2016. She needed steroids to combat it, which caused fluid to build in her brain, affecting her memory. She needed a second stem cell transplant in 2018 because her platelet levels began to drop again. 'At one stage I wondered if she would ever get better,' says Claire. But now Sofia's platelet levels are normal. She needs extra help at school and takes penicillin to protect her from infections – but the family counts their blessings. 'I am just happy I can finally do normal things,' says Sofia. Claire adds: 'We are so grateful for Sofia's transplant – it's wonderful to know that a new centre may help so many patients and families like ours.' Entries for the Omaze draw in Cheshire close at midnight on July 27. To enter visit The medical research funded by prize draws Omaze prize draws have already generated millions of pounds in funding for key health charities... ALZHEIMER'S RESEARCH UK: Funding research into new drugs is how the charity said it plans to spend the £4 million received from the Omaze draw for a four-bedroom house in Perthshire, Scotland, in February. With views over Loch Rannoch, the house has woodland, a tennis court and a private jetty. It's the third time that Alzheimer's Research UK had benefited from a draw. GUIDE DOGS: The draw for a five-bedroom Cotswold stone house with guest cottage and pool on the outskirts of Cirencester, Gloucestershire, raised £4.2 million for Guide Dogs by the time it closed in May. Andrew Lennox, CEO at Guide Dogs, said the money meant it can 'continue to provide services that empower people with sight loss to live the life they choose'. MND Association: The charity said the £4.1 million it received earlier this month from the draw for a beachside home in Sussex would be used to improve access to care, fund research and campaign for those with motor neurone disease – a progressive disease that affects the nerves that control movement. Currently, there is no cure. ANTHONY NOLAN: The charity says the £4 million likely to be generated from the ongoing draw (it closes on July 27) for a four-bedroom house in Cheshire's exclusive Alderley Edge area will help fund its stem cell collection centre to store healthy donated stem cells that could cure people with blood cancer and other disorders.
Yahoo
17-07-2025
- Health
- Yahoo
Scientists unlock secret behind rare disease where flu can cause paralysis
The family of a man who was paralysed at the age of two after catching the flu have expressed their 'hope' as scientists have discovered that a faulty gene may be responsible for the rare condition. It is hoped that the finding could potentially one day lead to a treatment for the illness. When Timothy Bingham was two, he had a mild flu-like illness which left him unable to walk. Three years later following another infection, he was paralysed and has been in a wheelchair ever since. Kate Bingham, mother of Timothy, who is now 28, said: 'About 25 years ago Tim got a flu like infection and a temperature. 'What seemed like a minor illness had devastating consequences. 'The attack, and subsequent attacks – did terrible damage. First to his legs, then his arms, his face and his chest. 'And now he needs 24-hour care. His diaphragm barely works at all so he can't cough. 'It's hard for him to chew and he can't drink unassisted. He can't move in bed so needs turning throughout the night. The things we all take for granted he can't do.' The rare condition was spotted again in 2011 when an unnamed eight-month-old girl was left unable to breathe on her own without the support of a ventilator after a mild chest infection. Scientists suspected that there could be a genetic reason behind the condition after the girl's two brothers had experienced similar severe problems following mild infections. Now scientists at the University of Manchester have found a genetic mechanism behind the severe reactions to mild infections seen among these children – a change to a gene called RCC1. Researchers found that 24 children from 12 families from the UK, Turkey, the Czech Republic, Germany, Iran, India, Saudi Arabia, Cyprus, and Slovakia have been found to have changes in the same gene. Writing in the journal Lancet Neurology, the research team describe how the condition 'mimics' Guillain-Barre syndrome – a rare condition in which a person's immune system attacks the nerves – and 'overlaps mechanistically' with motor neurone disease. The research team, led by Professor Bill Newman from the University of Manchester, said that their study reveals that 'variants in RCC1 as a novel cause of neurological disease.' 'Until this study, little was known about why some people experience severe nerve damage after they have had a mild infection like flu or a stomach upset,' Professor Newman said. 'This work provides families with an explanation and is the first step in us developing an effective treatment. As children are well before they develop nerve damage following an infection, this gives us an opportunity to treat at risk children before problems occur. 'The similarity with Guillain-Barre syndrome and with conditions like motor neuron disease may help us understand these more common conditions and why some people are at greater risk and what treatments may be effective.' Mrs Bingham from Cheltenham, Gloucestershire, said: 'As Tim's mum the discovery of a gene which is linked to what happened to Tim means everything to me. 'For so long we have lived with uncertainty of not knowing the full picture. 'This breakthrough brings us great hope as it will do to all those people who have waited years for answers. This is something that helps us look to the future.' She added: 'I'm proud of how strong Tim has been. 'He now has a girlfriend he met online who is wonderful. 'He proves there is life beyond disability.' The study was funded by the National Institute for Health and Care Research, LifeArc and the Wellcome Trust. Sam Barrell, chief executive of LifeArc, said, 'For many people living with rare conditions, the wait for a diagnosis can be agonisingly long – around a third wait more than five years. 'In Timothy's case, that uncertainty stretched for over twenty years. 'This discovery provides a potential target for treatment and the first step towards delivering a brighter future for people that could be living with this same devastating condition.'
Yahoo
17-07-2025
- Health
- Yahoo
Scientists unlock secret behind rare disease where flu can cause paralysis
The family of a man who was paralysed at the age of two after catching the flu have expressed their 'hope' as scientists have discovered that a faulty gene may be responsible for the rare condition. It is hoped that the finding could potentially one day lead to a treatment for the illness. When Timothy Bingham was two, he had a mild flu-like illness which left him unable to walk. Three years later following another infection, he was paralysed and has been in a wheelchair ever since. Kate Bingham, mother of Timothy, who is now 28, said: 'About 25 years ago Tim got a flu like infection and a temperature. 'What seemed like a minor illness had devastating consequences. 'The attack, and subsequent attacks – did terrible damage. First to his legs, then his arms, his face and his chest. 'And now he needs 24-hour care. His diaphragm barely works at all so he can't cough. 'It's hard for him to chew and he can't drink unassisted. He can't move in bed so needs turning throughout the night. The things we all take for granted he can't do.' The rare condition was spotted again in 2011 when an unnamed eight-month-old girl was left unable to breathe on her own without the support of a ventilator after a mild chest infection. Scientists suspected that there could be a genetic reason behind the condition after the girl's two brothers had experienced similar severe problems following mild infections. Now scientists at the University of Manchester have found a genetic mechanism behind the severe reactions to mild infections seen among these children – a change to a gene called RCC1. Researchers found that 24 children from 12 families from the UK, Turkey, the Czech Republic, Germany, Iran, India, Saudi Arabia, Cyprus, and Slovakia have been found to have changes in the same gene. Writing in the journal Lancet Neurology, the research team describe how the condition 'mimics' Guillain-Barre syndrome – a rare condition in which a person's immune system attacks the nerves – and 'overlaps mechanistically' with motor neurone disease. The research team, led by Professor Bill Newman from the University of Manchester, said that their study reveals that 'variants in RCC1 as a novel cause of neurological disease.' 'Until this study, little was known about why some people experience severe nerve damage after they have had a mild infection like flu or a stomach upset,' Professor Newman said. 'This work provides families with an explanation and is the first step in us developing an effective treatment. As children are well before they develop nerve damage following an infection, this gives us an opportunity to treat at risk children before problems occur. 'The similarity with Guillain-Barre syndrome and with conditions like motor neuron disease may help us understand these more common conditions and why some people are at greater risk and what treatments may be effective.' Mrs Bingham from Cheltenham, Gloucestershire, said: 'As Tim's mum the discovery of a gene which is linked to what happened to Tim means everything to me. 'For so long we have lived with uncertainty of not knowing the full picture. 'This breakthrough brings us great hope as it will do to all those people who have waited years for answers. This is something that helps us look to the future.' She added: 'I'm proud of how strong Tim has been. 'He now has a girlfriend he met online who is wonderful. 'He proves there is life beyond disability.' The study was funded by the National Institute for Health and Care Research, LifeArc and the Wellcome Trust. Sam Barrell, chief executive of LifeArc, said, 'For many people living with rare conditions, the wait for a diagnosis can be agonisingly long – around a third wait more than five years. 'In Timothy's case, that uncertainty stretched for over twenty years. 'This discovery provides a potential target for treatment and the first step towards delivering a brighter future for people that could be living with this same devastating condition.'
