Latest news with #geneticcondition
The Guardian
18 hours ago
- Health
- The Guardian
I spent my childhood in and out of hospital. At 19, I finally realised I had a terminal disease
Yvonne Hughes was 19, and attending the funeral of a friend with cystic fibrosis, when she realised: 'Oh shit, I'm going to die of this.' She had met him during shared hospital stays in childhood, and although Hughes had always known she had CF, she had never understood her illness as terminal until that day in 1992, when she stood at the back of the crowded chapel in Glasgow. For three days afterwards, she couldn't stop crying. 'I had a kind of meltdown. That's probably the first time I thought that this thing I had was going to kill me.' Over the next few months, Hughes, who was studying at the University of Glasgow, listened to her mum, dad and older sister chatting during family meals as if she was a ghost at the table. 'I pulled back from them. I deliberately didn't talk or include myself,' she says. 'I wanted them to get used to sitting and chatting without me, so that when I died, they wouldn't notice I wasn't there.' It's a harrowing responsibility for a teenager to take, but self-erasure must have felt like a way to pre-empt death, perhaps to resist it. When she was growing up, cystic fibrosis was considered 'a childhood disease' – because about half of those diagnosed did not survive their teens. A genetic condition in which the body creates thick, sticky mucus, it makes digestion difficult, damages lung function and can lead to respiratory failure. It affects about 160,000 people globally. Now 52, and enjoying what she calls a 'second chance' at life more than 30 years later, Hughes has emerged as a comedian. We are speaking on a video call before her one-hour show, Absolutely Riddled, which she is performing at the Edinburgh fringe, based on her experiences of living with the condition. 'I want to be true to myself and my story,' she says. Why does she think she survived when so many didn't? For most of her childhood, Hughes, who works as a community development worker in Renfrewshire, didn't regard herself as struggling for survival. Her parents didn't sit her down in childhood to explain her illness; she had been diagnosed at six weeks old. But there were hospital visits and tablets and eating often made her vomit. Gradually, she says, she 'put together those two words, cystic and fibrosis, with something that I had'. At school, she kept her illness hidden, taking her medication at home. She was popular; joined the Brownies, then Guides. 'I'm a very level-headed person, but I keep a lot in my mind. I remember when I was younger thinking: 'There's no point telling people about this because everyone is dealing with something. I'm nothing special.' I just got on with it.' Roughly one in every 2,500 people are born with cystic fibrosis in the UK, Australia and the US. Hughes's older sister does not have the illness and the family had no idea what it meant for their lives, or for Hughes herself. Only as she grew older did Hughes build a sense of the precariousness of her life. 'My mum said to me: 'We thought you were going to die, every day. We just didn't know.' It became their new normal to keep me alive.' If she got a chest infection, pleurisy or pneumonia, she would go into hospital, and over the years made friends on the CF ward, a fragile community. When the curtains were closed around a bed for a long time, Hughes and the other children knew not to go past. She reasoned with herself, to allay her fears: 'People were dying around me but I put it down to: 'Maybe they had a really bad infection, maybe they were worse than me.'' In childhood, she developed 'a lot of level-headed thought processes around why those people died'. She found solace in the Cystic Fibrosis Trust magazine, and dreamed of attending one of the advertised camps. 'Luckily, I didn't,' she says, because in the early 1990s, scientists discovered that the camps were a hotbed for the spread of bacteria, present in the lungs and phlegm of children with CF. Many cross-infected each other, some with fatal consequences. Did Hughes struggle to accept that sense of herself, as both vulnerable and a threat? 'Absolutely,' she says. Hospitals implemented a policy of segregation, according to bacteria carried. Hughes has the pseudomonas bacteria, and after her friend's funeral in 1992, she stopped seeing people with cystic fibrosis in case they had different bacteria or bugs that might lead to cross-infection. She has stayed in touch by phone with one old friend. 'We shared growing up in the hospital ward and I do love speaking to him.' But after that funeral, 'I became reckless,' she says. 'I thought: 'Well, life's for living. I'm just going to do what I want.' I didn't care very much for myself. I thought: 'What's the point?' I spiralled.' Her 20s and 30s passed in a blur of 'festivals, partying, travelling when I could, flying by the seat of my pants … ' She had hoped to meet someone, and to have children. 'I thought it would happen. And it never did.' In her 30s, her lung function got so low – 45%, then 36% – that she wouldn't have been able to sustain a pregnancy anyway. 'That was something I tried to grieve. But over the course of a year, I thought: 'I'd rather be alive.' My mantra became: 'I'd rather have a full and short life than a long and unhappy one.' These kinds of philosophical things got me through.' Hughes doesn't have a mantra now – 'other than trying to be funny'. The frequency of her performances range from three times a week to every few weeks, depending on her health needs. But even in her reckless phase, she embodied a stoicism, too. She worked throughout – at a call centre, a radio station, the CF Trust. 'I just had to keep going, pay my bills and mortgage.' Did she ever wonder: 'Why me?' She has had years of spitting out and swallowing mucus – 'constant, constant' – hankies everywhere, non-stop sterilising of stuff, endless medication and pain, unable to take the next breath for granted. As a child, when she went into hospital, there was a faint sense of privilege at being given Lucozade and new slippers, things her sister didn't get. But no one else in her family has the illness. Didn't she feel aggrieved? 'It's a difficult question,' she says. 'I've thought about 'Why me?' in a positive sense – that it was me because I could handle it. Or, I'm glad … because this has made me the way I am.' She has also thought, 'Why at all? Why did cystic fibrosis come into being? Why have this weird disease that just kind of ruins lives?' While Hughes survived childhood by reminding herself that she wasn't special, the differences between her life and others' sharpened as she entered her 40s. She became an aunt, and bore close witness to her peers' life transitions while she kept on being 'just Yvonne – the one that never reached any potential'. 'I couldn't have a career because I would always get ill. I never moved social class. I always remained working class.' Her dad was a welder, her mother a GP receptionist. 'Everything I did, I did myself. But it was day by day, week by week. There was never a plan. I always felt I could never get ahead of myself.' In 2018, aged 45, with deteriorating health, Hughes took redundancy from her job as public affairs officer at the CF Trust. Eating was difficult. Her weight hovered around 7 stone. She braced herself for the possibility of a lung transplant, but as her lung capacity dropped to 30%, she was deemed too ill for the waiting list. 'I was like: 'OK, that door's closed. At this point, there isn't anything else on the horizon to keep me alive.'' She completed an end-of-life form, and met the palliative care team. She thought: 'I'll see my days out with my parents, make memories and know I did well to get to 48.' Then, in 2020, the UK government granted access to a new drug, Kaftrio. Hughes had read about its worldwide trials. When the delivery driver knocked on the door, she told him: 'You're going to save my life.' At that point, her lung function was down to 26%. Within an hour or two of the first tablet, she started coughing. 'They call it the purge,' she says. There was so much mucus – dark, watery and horribly fascinating – she captured it in a cup, put a lid on it, and stowed it in a drawer in her bedroom. 'I kept that cup for a long time,' she says. Maybe she already knew it was a relic. The Kaftrio turned Hughes's life 'a whole 180, literally overnight'. There are side-effects – insomnia, weight gain, which have brought other challenges – but before long, she says, 'I could breathe again without coughing. I went back to work within the year. I could run, I could dance, I could speak, I could stand up straight and cook. I used to always be bent over, catching my breath. And then all of a sudden that was gone. It was a miracle.' Energised, she decided to enrol in an evening course. Acrylic painting, maybe, or playing the keyboard? But at the University of Strathclyde's Centre for Lifelong Learning, it was the flyer for comedy that caught her eye. 'I had always loved going to gigs. Something clicked and I enrolled.' She performed a five-minute set for the course finale – and immediately wanted to do it again. 'I started applying for clubs, Monkey Barrel and the Stand Comedy Club [both in Edinburgh]. I got Red Raw [the Stand's beginners' slot] and went from there. I want to change my life,' she says, 'and I am doing comedy to see if I can change my life.' Nearly four years ago, Hughes met her partner, Alan, online. Having spent a lifetime feeling unable 'to rely on a future', she has had to learn to picture one – and to override her old instinct to absent herself to mitigate later losses. Sometimes, this means catching herself in the act of 'pulling back' from Alan, and letting the pleasure she takes in his company teach her to quiet her mind. Life now is so different, it requires a conscious effort to remember how hard it was from one moment to the next. 'I used to breathe so shallowly that I had to take a – haa! – sharp intake of breath – to feel I was breathing,' she says. The sound punctuated even the simplest actions – after getting into a car, for instance, after reaching for her seatbelt, after pulling it across her, after fastening it. 'Now I can get in the car, pull the seatbelt over and go. I can walk and talk. I can laugh without wetting myself or going into a convulsion of coughing, pulling a muscle or breaking a rib,' she says. 'It is a horrible, horrible disease. It suffocates you. It takes every inch of your breath away. And now it is something I can live with and not die from. I'll probably live to get my pension.' Comedy has brought 'fun, joy and laughter' back into Hughes's life. But it has also given her something that nothing else has. 'I had never found anything for me in my life. I'd never married. I had no children. So I had no community. Nothing,' she says. 'There were people getting their careers and their lives sorted. Comedy was the one thing that was for me. And it still is. Just for me.' Yvonne Hughes: Absolutely Riddled is at Snug at Gilded Balloon Patter House, Edinburgh, until 15 August
Washington Post
21-07-2025
- Health
- Washington Post
This system is critical to Americans' health. We must defend it.
Eric J. Rubin is editor in chief of the New England Journal of Medicine and the NEJM Group. Kirsten Bibbins-Domingo is editor in chief of JAMA and the JAMA Network. When KJ Muldoon was born, he seemed healthy. But within days, doctors discovered he had a rare genetic condition that could allow toxic levels of ammonia to build up in his body, putting him at risk for brain damage or even death. The infant's doctors developed a first-of-its-kind therapy just for him, using CRISPR — a gene-editing technology that has been refined for use through decades of research and peer-reviewed science published in medical journals.
Khaleej Times
19-07-2025
- Health
- Khaleej Times
'Reclaimed my life': UAE expat saved after multiple surgeries for rare genetic condition
A 36-year-old UAE resident suffering from severe back and chest pain was recently diagnosed with a leaking liver aneurysm caused by a rare genetic condition, triggering a complex series of life-saving surgeries at Burjeel Hospital, Abu Dhabi. In a rare case, the medical team had to simultaneously thin the patient's blood to prevent clotting while also managing internal bleeding from another site, posing a serious challenge. The patient had initially believed his discomfort would fade with rest and medication. But as the pain worsened and began to impact his daily life, he sought medical help. At Burjeel Hospital, a detailed evaluation revealed a leaking aneurysm, a dangerous bulge in a blood vessel in the liver. Further investigations showed that the patient had a rare genetic condition that weakened the muscular walls of blood vessels, making them prone to aneurysms and ruptures. This condition is exceptionally rare among younger individuals. According to Dr Moatasiem Bukhari, consultant vascular surgeon at Burjeel Hospital, the patient arrived with intense pain in the emergency department. 'Since the painkillers he had taken hadn't helped, we conducted a CT angiogram, which revealed a leak from an aneurysm in the artery supplying the left side of his liver,' said Dr Bukhari. To treat this, Dr Mohamed Almarzooqi, consultant of interventional radiology, performed an endovascular coiling procedure. Through a small incision in the patient's right groin, tiny coils were inserted into the affected blood vessel to block blood flow and seal the aneurysm, a standard but delicate method used in such cases. However, the situation took a turn when a false aneurysm developed in the main artery of the patient's right thigh likely due to a puncture in the artery wall during the procedure, according to the doctors. Initially small and manageable through non-surgical methods, the false aneurysm ruptured the next day, causing massive internal bleeding. 'He bled significantly into his right thigh,' said Dr Bukhari. 'We had no option but to proceed with emergency open surgery. We made a small incision in his lower abdomen to access and control the main artery feeding the right leg. Once we located the hole in the femoral artery, we repaired it and removed nearly three liters of blood to stabilise him.' Two opposing treatments The complexity of the case lay in managing two contradictory conditions. While some vascular issues required the team to thin the patient's blood to avoid clots, the rupture in his thigh meant that thinning his blood could have led to fatal bleeding. Striking the right balance was critical. Dr Khaled Hassan Attia Ghorab, consultant of critical care medicine, led the ICU team during the patient's recovery, while Dr Mohsin Saleem Basade, consultant anesthetist, oversaw the anesthesia care during the surgical interventions. Recalling the painful journey, the patient, who requested anonymity, said, 'The pain was unbearable at times, and I realised I had to accept the situation and undergo these procedures to reclaim my life. I am grateful to the doctors and to my family, especially my mother, who never left my side.' Today, he is on the path to recovery. His wounds are healing, and he is focused on returning to a normal life. 'I pray that this marks a turning point. Health, work, family, everything has a new meaning now,' he added. While the immediate danger has passed, the patient's condition still requires long-term care. According to Dr Bukhari, 'He has around seven aneurysms and four to five serious arterial dissections that need to be regularly monitored. Ongoing scans and follow-up care will be critical.'
SBS Australia
17-07-2025
- Health
- SBS Australia
New babies born free of devastating genetic diseases using DNA from three people
"Lily was my third daughter. She was born five weeks early, small, but otherwise healthy. Around about seven weeks old, she started to have these absent seizures where she would stop breathing and just sort of stare into space. And then we had the situation where she had two cardiac arrests. And she was rushed into intensive care and put on a life support machine." She's reflecting on her daughter Lily, who was born with a rare genetic condition. Doctors struggled to find answers, and further tests eventually confirmed a life-limiting condition with no treatment: mitochondrial disease. Robin Lovell-Badge is the Head of Stem Cell Biology and Developmental Genetics at The Francis Crick Institute. "Mitochondria are these little energy-producing factories, if you like, which all our cells contain. They have their own DNA, and if that DNA carries a mutation, or is a pathogenic variant, it can cause a whole range of different types of disease according to specific mutation, but these are all a nasty set of diseases where children can suffer a lot and die. It's particularly important for energy-demanding tissues like brain and muscle." Lily's family ultimately brought her home after the doctors told them there was nothing more they could do. And for six precious months, she defied expectations. "And I guess it was during those six months that we really started to understand what mitochondrial disease was, what the implications of it were." Over the ocean from the UK lives Ash Greenhalgh, a 28 year old woman from Brisbane who has Leber Hereditary Optic Neuropathy disease, which affects her vision. Her younger brother also has it, as does her mother. "Leading on from my vision loss when I was a child and kind of growing into my teenage years... it was an illness and a disorder with my eyes that was not visible to the people around me. It was internal, which made it very difficult for people to support me and understand. A lot of the times I would hear things like 'won't glasses fix that', which is not the way it works with LHON." Ash says she was overcome upon hearing that scientists at Britain's Newcastle University and Australia's Monash University have pioneered a treatment aimed at preventing such genetic diseases in children. "I cried. I cried. Obviously it's not something that's happening any time soon, but it means the world... I have a lot of gratitude for Monash, I have a lot of gratitude for the researchers who have put in so many countless hours into the research into doing what was the right thing, and helping the community. Because it is genuinely going to make a lot of difference for a lot of people." The idea behind the technique is to produce children who are born free of devastating genetic diseases, including mitochondrial disease, which is passed down through the mother's line. Robin Lovell-Badge says the method uses DNA from three people - the mother's egg, the father's sperm, and a donor's mitochondria - transferring pieces from inside the mother's fertilised egg into a healthy egg provided by the anonymous donor. "What's happened in this case is that they've used a technique called pronuclear transfer which effectively replaces the bad mitochondria with good mitochondria. You actually swap the nuclear genetic material, rather than move the mitochondria around, but you have a donor egg where you remove the nucleus and you replace it with the nucleus from the patient embryo."
Irish Times
17-07-2025
- Health
- Irish Times
Playing county football through the pain of epidermolysis bullosa: ‘When I'd fall it would cause abrasions and blisters'
Ellie Ward has a rare and painful genetic condition known as 'butterfly skin', but there is nothing delicate about her performance as an inter-county GAA footballer. 'Ellie's a full back, which is probably the hardest position to play in Gaelic football and especially in ladies,' says Tony Doyle, her coach for seven years at An Clochán Liath club in northwest Co Donegal . 'She's very, very aggressive and very athletic.' The 19-year-old revealed to him only a few months ago that she lives with epidermolysis bullosa (EB), having been diagnosed at the age of three. Through her teenage years she has tried to hide that she has dominant dystrophic EB, which is generally a less severe form of what can be an extremely debilitating disease. Nonetheless, she has become accustomed to coping with pain. READ MORE 'I'm really lucky because my EB only affects my joints, so my elbows, knees and ankles,' she says. People with the condition lack the necessary proteins to bind layers of skin together, so friction, movement or trauma can cause it to break and blister. There is no cure for EB, so treatment is all about managing the symptoms. The middle child of three, Ward was a toddler when her parents started to become concerned about marked differences between her and her older brother Aaron. 'When I'd fall, or something like that, it would cause abrasions to my skin and blisters.' She was brought to a GP who, coincidentally, already had a child patient with EB on their books, so was quick to recognise the signs. The diagnosis was later confirmed in Children's Health Ireland at Crumlin hospital. Ellie had to have inherited the condition and her father was subsequently diagnosed with EB, along with some other extended family members. 'They'd kind of known for a long time that my dad's side of the family had a problem with their skin. They just weren't sure what it was. 'It didn't affect their life enough for them to have gone to a dermatologist about it. Until I was born – and I presented quite severely with the symptoms,' she says. Once her parents knew she had EB, 'they kind of wrapped me in bubble wrap' and she recalls having daily emollient baths because doctors were afraid the skin between her fingers and toes would fuse. Her parents encouraged her to take up non-contact activities, such as choir and Irish dancing. Ellie Ward on the grounds of her local club, An Clochan Liath, in Dungloe, Co Donegal. Photograph: Joe Dunne However, with Gaelic football being 'so prominent in our culture in west Donegal', and watching her older brother play, she was desperate to get involved. 'They couldn't really stop me and, at 11, I started playing for my local GAA club.' Ellie has gone on to play at under-age and minor level for Donegal and Doyle has no doubt she will make the senior team. Wearing football boots has posed the most problems for Ellie, irritating her ankles. However, it is not as bad as it was and she believes playing the sport has actually helped. After any fall during preteen years, her knees would be skinned or blisters would form. 'Over time I think my skin has adapted to being rough and ready for football. My ankles still do get blisters, but the skin doesn't completely come away any more, which is great because that did cause me a lot of pain. In a way, I think playing has really helped my skin.' Although, she is quick to acknowledge that many people would say that's insane. Ellie says her brother is 'doing amazing' and she is 'really proud of him'. Photograph: Joe Dunne Doyle reckons, EB apart, that most of the pain Ellie has endured on the football pitch is from knocks she picks up 'from being brave'. He learned about her condition only after she decided recently to do some fundraising for the EB charity Debra Ireland . She was also motivated to start talking about it by the brother coming up behind her, Oisín, aged 14, who has the same type of EB. 'I think this year I've kind of started embracing it more because my younger brother is coming into the age where I stopped accepting my EB.' Playing in the fullback line, where you are expected to be tough and strong, she says, 'I felt if other people knew of my condition that they would see it as a weakness. I would never ever talk about it.' She hid cuts and other skin problems even from her parents. 'If I was to get a cut or something, I would just let it scab over itself. I wouldn't put plasters on it or anything, which is really bad looking back.' When schoolfriends expressed alarm at the state of her ankles, 'I would say that it was from football. I never mentioned that it was anything to do with my skin. Because I didn't want to feel different.' She was self-conscious of the purple colour over her ankles and knees in the sun. 'I used to try to cover it with concealer and stuff, which probably made it more prominent in a way.' Ellie Ward taking part in an abseil challenge from the roof of Croke Park Ellie realises now how resilient she has become through coping with EB and is keen to show Oisín and others that it is 'a superpower, not a setback'. He was diagnosed aged one, after having more obvious symptoms than her – bad, itchy eczema, extensive nappy rashes and irritations around the seams of his clothes. Yet, he has been playing GAA football since the age of five 'and there's no stopping him', his big sister says. 'His skin has become more resilient as well and his scarring is nowhere near as bad as mine. He does still have the scarring on his joints and stuff, but he's doing amazing and I'm really, really proud of him.' Ellie, who last month took to the roof of Croke Park to abseil down from the scoreboard, says fundraising for research and treatments by Debra Ireland 'is massively important'. With EB being hereditary, there's a distinct possibility that future members of her family will be affected. Awareness-raising is a huge part of Debra's work because, as its CEO Jimmy Fearon says: 'With no awareness there is no funding. With no funding there is no research. With no research there is no cure. And without a cure, there is no hope.' Lack of awareness even within the healthcare community delays diagnosis in many cases, says Alejandra Livschitz, head of communications with Debra, a 32-county organisation. 'It's very obvious when a baby's born with a severe form because it would come out of the womb extremely blistered,' she says. But in less severe cases, childhood symptoms may be put down to 'fragile skin' and diagnosis not made until adulthood. Actor Colin Farrell with Emma Fogarty during the Dublin Marathon. Photograph: Louise Walsh Emma Fogarty, who was on the Late Late Show with actor Colin Farrell last October, has such extreme EB that she was expected to die within days of her birth. Farrell ran the Dublin city marathon to celebrate her 'miracle' 40th birthday and to raise funds for Debra. The two EB specialist centres are Children's Health Ireland at Crumlin for children and St James's Hospital for adults, but transition of care from the former to the latter can be problematic for patients, according to Livschitz, as is access to appropriate local health services. Livschitz says lack of awareness among community services such as GPs, dentists and public health nurses are among the challenges people with EB face. Also, the condition is not covered by the long-term illness scheme, so the costs of specialist creams and bandages can be a significant cost for those without a medical card. Ellie is studying physiotherapy at Atlantic Technological University in Letterkenny, on a Gaelic football sports scholarship, and is concentrating for now on playing for college and club. Her interest in physio started in childhood, when she was given exercises to do to prevent the build-up of scar tissue immobilising her joints. 'If I was to get stepped on, or anything like that, on my ankles, it would cause blisters,' she explains. 'That would then cause a scar, which does happen quite a lot.' Ellie is also Dungloe's home entrant for this year's Mary from Dungloe International Arts Festival. Photograph: Joe Dunne She uses medical grade needles to pop the blisters and then covers the area with special plasters that won't pull off the skin when removed. However, she believes playing football has also helped to keep her joints mobile. Although Ellie's passion is Gaelic football, parental pushing towards the gentler pursuit of choir also paid off. Having been chosen last February as Dungloe's home entrant for this year's Mary from Dungloe International Arts Festival (July 26th to August 4th), she hopes her singing voice might help land her the crown. Who is affected by Epidermolysis Bullosa (EB)? 1 in 18,000 babies born here are affected by this rare, genetic condition 300 is the estimated number of people in Ireland living with EB 50% chance a child will be born with EB if one parent has the condition; that's called dominant inheritance 1 in 4 chance of a child having the condition when both parents carry one gene for EB; that's recessive inheritance There are four types of EB 70% of people with the condition have milder forms than the 30% of those with a severe type
