Latest news with #childrenshospital
Yahoo
7 days ago
- Health
- Yahoo
Deadly 'flesh-eating bacteria' can thrive at the beach. How to stay safe.
A rare "flesh-eating bacteria" that lives in warm saltwater has led to at least four deaths this year, but some simple safety precautions can keep you safe while on vacation. The bacteria, Vibrio vulnificus, most often causes infection through open wounds and the consumption of undercooked or raw seafood. That has caused worries for some vacationers and residents in the Gulf Coast, especially in Florida where infections are most prevalent. Earlier this month, the Florida Department of Health said the bacteria led to four deaths in four counties across the state and made at least seven people ill in 2025. Vibrio vulnificus is not the only microscopic threat sparking worry among swimmers and vacationers. A children's hospital in South Carolina recently confirmed one of its patients died of Naegleria fowleri, a "brain-eating amoeba" that thrives in warm fresh water sources like lakes and streams. While Vibrio vulnificus and the rarer Naegleria fowleri don't share much in common, both are fueled by warm temperatures and may be becoming more prevalent due to climate change, studies show. Here's how you can limit your risk of exposure to these dangerous infections. How to avoid Vibrio vulnificus First, the good news: infections are rare, with an an average of 150 to 200 cases reported each year to the Centers for Disease Control and Prevention (CDC), most of them in Gulf Coast states. And while the "flesh-eating bacteria" can be deadly, Vibrio vulnificus does not technically eat tissue. If the bacteria enters the body through a cut, scrape or wound, it can cause necrotizing fasciitis, and the flesh around the infection site could die. The bacteria cannot penetrate unharmed skin and can only can enter through an existing break. Most infections occur when people swallow contaminated water or get it in an open wound. Another source of infection is contaminated raw or undercooked seafood, especially shellfish such as oysters. Below are some tips to avoid Vibrio vulnificus, according to the Florida Department of Health and the CDC. Stay out of saltwater and brackish water (fresh water mixed with saltwater) if you have an open wound or cut. If you get a cut while you are in the water, leave the water immediately. If your open wounds and cuts could come in contact with salt water, brackish water or raw or undercooked seafood, cover them with a waterproof bandage. Cook shellfish (oysters, clams, mussels) thoroughly. Avoid cross-contamination of cooked seafood and other foods with raw seafood and juices from raw seafood. Always wash your hands with soap and water after handling raw shellfish. Seek medical attention right away for infected wounds. How to avoid catching a brain-eating amoeba Naegleria fowleri is often called a "brain-eating amoeba" because it can infect the brain and destroy brain tissue, according to the CDC. The agency says if water contaminated with the amoeba reaches the brain through the nose, it can cause a rare but deadly infection. From 2011 to 2022, the CDC received reports of about 40 infections nationwide. The amoeba can be found in warm fresh water sources but has been detected in poorly maintained pools, splash pads and even tap water. Here are some tips on how to avoid Naegleria fowleri. When jumping or diving into fresh water, hold your nose or wear a nose clip. In hot springs, keep your head above water. Don't dig in shallow water because the ameba is more likely to live there. Use distilled or boiled tap water when rinsing your sinuses or cleansing your nasal passages. Remember: You cannot get infected from drinking water where the ameba is present, it can only cause infection through the nose. Contributing: Natalie Neysa Alund, Thao Nguyen, Gabe Hauari and Mike Snider, USA TODAY; Nina Tran, Greenville News; C.A. Bridges, USA TODAY Network - Florida This article originally appeared on USA TODAY: 'Flesh-eating bacteria' at Florida beaches? How to say safe.
The Guardian
22-07-2025
- Health
- The Guardian
My daughter's health was a mystery. The answer was on the other side of the world
Right after my daughter, Maggie, was born in 2012, she held her hands clasped together against her chest. 'Like she's praying!' a nurse said in a singsong voice. But when the pediatrician walked in, the mood changed. 'Praying?' she asked, her voice tight. The nurse and I stepped back while the pediatrician gently moved Maggie's limbs, testing how much they could straighten or bend. While some tightness in the hips or knees can be normal for a newborn, Maggie's joints were unusually tight and her limbs could not straighten all the way. The pediatrician pointed out the rounded soles of Maggie's feet. 'A handful of genetic conditions can cause the shape of her feet. Most of them are fatal,' she said. I stared at her, unable to process the word 'fatal' in connection to the brand new, six-pound person I'd brought into this world. Over the next seven days, I rarely slept. The children's hospital put me up in a Ronald McDonald house a mile away from the NICU, where Maggie had been transferred. Every three hours, I walked to the NICU to breastfeed and pump. I was anxious and scared, signing off on procedures and tests, and answering dozens of questions about my pregnancy, diet, lifestyle and family history. By the time Maggie left the hospital, she had been seen by neurology, genetics, internal medicine and orthopedics. Then the results came: she had tested negative for the scary fatal conditions. The relief floored me. But she also tested negative for every other known diagnosis. 'Why are her joints stiff?' I asked her last doctor right before discharge. He shrugged and said, 'We can only get to know her as an individual. Sometimes it is not a bad thing to see how unique each person really is.' I agreed that accepting my daughter's differences was essential. But I worried that the physicians had missed something. For the next two months, I sat in front of the computer, flipping through Maggie's 50-page medical chart and searching terms like 'multiple joint contractures', 'vertical talus', 'high arched palate' and 'micrognathia'. Eventually, I discovered pictures of children with similar limbs in medical journals and studies about arthrogryposis multiplex congenita, or AMC – an umbrella diagnosis describing infants born with multiple contracted joints. I showed Maggie's new pediatrician screenshots. The condition was incredibly rare, he said; in his 30-year career, he had met only three babies who looked like my daughter, all during his time as a military physician overseas. He referred us to the closest specialty clinic, which was five states away in Philadelphia. 'She has a community. You just haven't met them yet,' he said. I knew the trip would be daunting with an infant and Maggie's two-year-old sibling in tow. But for the first time, I had some answers and knew where to look for more. Six months later, Maggie and I arrived for her first appointment at the clinic. We saw five specialists, which took nine hours. Some mysteries were solved. I learned the term for her feet: 'rocker bottom', the soles curving like the bottoms of cartoon boats. Surgery could guide them to grow flatter and arched, so she could learn to bear weight and eventually walk. Since birth, Maggie's elbows had loosened, but her knees still didn't flex all the way. We would need to take annual weeks-long trips to Philadelphia so the doctors could slowly stretch Maggie's ankles and knees, wrap them in casts, saw off the casts a week later, stretch a little farther, and cast again. Still, we had no diagnosis. 'What caused all this?' I asked the doctors. I was afraid to voice my other questions: Will she walk or talk? How different will she be from her sibling? What decisions will I have to make? How will I know what is right? In the United States, parents of the one in six children with developmental delays ask such questions every day. For the approximately 15 million children who have received a rare diagnosis, defined as one that affects fewer than 200,000 people, the future is unknowable. Some diagnoses, like Maggie's, are so rare that they aren't seen as profitable subjects for research funding. People with these 'orphan conditions' have to rely on themselves, their families, and grassroots endeavors to fund and discover treatments. Navigating the maze of anxiety and 'what ifs' felt relentless. Then I joined a Facebook group dedicated to the AMC specialist clinic we had visited, where parents shared pictures of their children, diagnoses, concerns, treatments and contact information for specialists. I introduced myself and posted pictures of Maggie. Immediately, Alyssa Wolfe, a mother and nurse, messaged me. She pointed out that her daughter, Delaney, had the same rocker bottom feet as Maggie, a rarity in the group. Our daughters both had one middle finger stuck flexed at the joint, and similar faces: a small chin, and a broad nose bridge that makes their eyes look farther apart than most babies'. Delaney was three years older than Maggie. For years, I tracked Alyssa and Delaney's progress through treatments, surgeries and diagnoses. Having another parent to talk to about major decisions was a huge relief. Maureen Donohoe, a physical therapist, was also in the group, as she worked with many children with arthrogryposis. She had been gathering stories from patients like Maggie and Delaney because they 'were different from the others with AMC, but they had so many of the same characteristics, it was impossible to ignore', she said. Alyssa had met Maureen at an arthrogryposis conference before I joined the group. 'In an elevator, Maureen approached me, listing off Delaney's attributes. I asked her if she somehow read my child's medical chart. Maureen told me, 'No,' but she had been hypothesizing with a geneticist about a syndrome, and she thought Delaney had it,' Alyssa said. After coming across six patients with these characteristics, Maureen had told Dr Judith Hall, a clinical geneticist and pediatrician, this might be a genetic anomaly worth studying. 'After Dr Hall looked at her own notes, she called me and said, 'I have 10,'' she said. Connecting with Alyssa and Maureen was the first major step in identifying Maggie's condition. But what was the next step? As Maggie grew, her development continued to be markedly different from that of other kids her age. By the time she was three, she could scoot but not yet crawl. Most kids her age with AMC had been mobile for at least a year. But one day, in physical therapy, she suddenly stood with the help of a toy shopping cart. Then she learned to use a walker. Over the years Maureen noticed a similar trend with kids like Maggie. 'They do their best weight-bearing and walking around preschool age,' she said. 'When they get older, they seem to have a harder time maintaining a center of gravity.' Sign up to Well Actually Practical advice, expert insights and answers to your questions about how to live a good life after newsletter promotion There was another big difference. Maggie was talking constantly, but her sounds were disorganized. Nobody could understand her. Most children with AMC alone had no speech problems at all. It was hard to find resources, but our speech therapist helped us get an iPad program that Maggie could use to talk. She'd press a button on a grid of images and common words, and the iPad would say the word. Her first sentence blew me away. Maggie was sitting at the dining room table eating breakfast while I washed dishes. 'I need money,' her talker said in a mechanized child's voice. I paused, holding a bowl. Maggie pressed the 'talk' button again, and the sentence repeated. She pointed at my purse and threw her head back, guffawing. She'd made a joke. I said, 'You need money!' over and over, laughing, nearly sobbing, dripping soapy water everywhere. Within a year, Maggie was using her talker to ask for snacks and toys, to complain, to tell her new baby brother, 'You're cute!' At school, Maggie verbally repeated every word she or her friends pressed. By the end of the school year, the talker was gathering dust in our coat closet. Maggie's limitations and sudden moments of progress surprised even the doctors who specialized in arthrogryposis. At every turn, I wanted to celebrate her success, but the gap widened between her and the other kids with the condition. Isolating a genetic anomaly is a 'diagnostic odyssey' that many families embark on, said Dr Michael Bamshad, head of genetic medicine in pediatrics at the University of Washington. 'There's all this data that sits locked away in medical records. A physician in one state may know of three similar cases, a physician in another state may know about five,' said Bamshad, 'but there aren't many ways for those families to find each other.' Bamshad, his colleague Jessica X Chong and their colleagues have researched the power of social media in genetic discovery. They launched a secure, free genetic information sharing site, MyGene2, in 2016. 'Families and clinicians can share their genetic information to help them find answers,' said Chong. Alyssa and I input our daughters' data and hoped for more information. But the waiting game was long, and we felt powerless. Alyssa recently described it to me as a three-part process: 'In the beginning, parents are typically very active on social media, trying to understand their kid and hoping to give them as normal of a life as possible,' she said. Then, 'sometime in elementary or middle school, their development stalls' and the focus shifts from 'fixing' the issue to maintenance through puberty. This can all be 'very isolating', she said. 'Parents with typically developing kids often stop hanging out with you.' But 'an acceptance stage' can come via social media groups like ours, which are 'sometimes the only place to find connection and friends who understand'. In 2017, Catherine Paul-Fijten, a mother and molecular biologist who lives in Dubai, used Facebook groups to connect with parents whose kids resembled her daughter, Milou. I didn't know about Milou yet, but she had the same physical traits as Maggie, who was five by then. Milou's doctors had located a difference on the ZC4H2 gene shortly after birth, and Catherine organized a meeting of doctors and geneticists – including Maureen and Dr Bamshad – to review the current, albeit limited, research. Maureen sat next to Bamshad, scrolling through pictures of Maggie, Delaney and other children with rocker bottom feet and tiny chins. Bamshad suggested that we both report our daughter's symptoms on MyGene2 and apply for testing. Within a year, the diagnosis was confirmed: Maggie also had an anomaly of the ZC4H2 gene. At the time, fewer than 50 people with a similar genetic difference had ever been identified. Catherine used personal resources to start a foundation to research the impacts of this new genetic diagnosis, updating a new, dedicated Facebook group regularly with insights. The diagnosis gave us a sense of belonging through the shared goal of understanding our kids and learning how to help them grow. The dramatic impact of online support groups for children with rare diagnoses has been well documented for more than 20 years. Online information sharing among parents has been found to strengthen treatment and mental health support for families and children with Spinal Muscular Atrophy (SMA), neurologic disorders and other rare genetic disorders as well as more common diagnoses like diabetes and childhood cancers. While the ZC4H2 gene difference is rare, research into rare conditions is crucial – 'not just for the people who have that diagnosis – but for humanity as a whole', Catherine said. That's because 'much of what we know about the function of the human genome comes from understanding the genetic basis of rare diseases', said Bamshad, citing examples including common heart conditions and vaccine research. 'What we've learned about rare diseases helps us understand the genetic and molecular basis of common conditions as well.' The ZC4H2 group has nearly 200 members, though nearly 250 people with this condition have now been identified globally. Because of their stories, I was prepared. In 2023, at the beginning of sixth grade, Maggie suddenly presented with severe scoliosis, and I knew she would probably need a full spinal fusion because I'd heard about related complications from our ZC4H2 community. I shared this information with Maggie's spinal surgeon, as well as a list of other surgeons who had had to manage these complications, and she formed a pre-emptive plan. During Maggie's spinal surgery, I let myself get lost in the labyrinthian halls of the hospital for hours, cellphone in one hand, operating room pager in the other. As with her previous 10-plus surgeries, I didn't allow myself to imagine what was happening or what could go wrong. As I stood in the hallway, I scrolled through encouraging comments and messages from Alyssa, Catherine and others. Despite our different jobs, family culture and background, we'd collaborated with doctors, scientists, physical and speech therapists – and each other – for more than a decade. Their support didn't guarantee a perfect future for my daughter, but their generosity was a profound gift. The operating room pager went off. My phone rang. The charge nurse told me my daughter was waking up, that surgery had been a breeze. I rushed to the recovery room, tapping the app to share the news while I waited for Maggie to be wheeled in. At the top of the feed, a new member had posted about her child's fresh diagnosis, her questions, her fears. I abandoned my own update to type the words that changed the course of my life and Maggie's childhood: Welcome! You are not alone. Asha Dore is a journalist, illustrator, and speech-language therapist.
BBC News
22-07-2025
- Health
- BBC News
Birmingham children cheer on Lioness Hampton from hospital beds
Patients at the children's hospital where Hannah Hampton was treated for an eye condition will be cheering her on as England face Italy in the Euro 2025 semi-finals on Lioness goalie became an ambassador for Birmingham Children's Hospital Charity three years ago after having multiple operations there as a was born with a squint, which left her severely cross-eyed before ophthalmologist Manoj Parulekar said the condition could impact depth and distance perception: "She's clearly using her brain's cues to compensate for that, and doing an incredible job at it." The 24-year-old was brought up in Studley, Warwickshire, and went to Erasmus Darwin Academy in Burntwood, approached the Birmingham charity to offer her support in 2022, when she was playing for Aston Villa."Her aim was to really help inspire some of the patients," said fundraising manager Sheba Ali."To give them a role model that shows, despite your condition or your illness, you can go on to achieve your dream."I know lots of the kids will be watching on their tablets [on Tuesday] and really cheering her on." Mr Parulekar said the hospital wanted to congratulate Hampton on her "incredible achievements" and looked forward to following her Ali added: "We're so pleased to have her as an ambassador. To see her star rise and her become England's number one goalie is amazing." Follow BBC Birmingham on BBC Sounds, Facebook, X and Instagram.
The Guardian
21-07-2025
- Health
- The Guardian
My daughter's health was a mystery. The answer was on the other side of the world
Right after my daughter, Maggie, was born in 2012, she held her hands clasped together against her chest. 'Like she's praying!' a nurse said in a singsong voice. But when the pediatrician walked in, the mood changed. 'Praying?' she asked, her voice tight. The nurse and I stepped back while the pediatrician gently moved Maggie's limbs, testing how much they could straighten or bend. While some tightness in the hips or knees can be normal for a newborn, Maggie's joints were unusually tight and her limbs could not straighten all the way. The pediatrician pointed out the rounded soles of Maggie's feet. 'A handful of genetic conditions can cause the shape of her feet. Most of them are fatal,' she said. I stared at her, unable to process the word 'fatal' in connection to the brand new, six pound person I'd brought into this world. Over the next seven days, I rarely slept. The children's hospital put me up in a Ronald McDonald house a mile away from the NICU, where Maggie had been transferred. Every three hours, I walked to the NICU to breastfeed and pump. I was anxious and scared, signing off on procedures and tests, and answering dozens of questions about my pregnancy, diet, lifestyle, and family history. By the time Maggie left the hospital, she'd been seen by neurology, genetics, internal medicine and orthopedics. Then the results came: she'd tested negative for the scary fatal conditions. The relief floored me. But she also tested negative for every other known diagnosis. 'Why are her joints stiff?' I asked her last doctor right before discharge. He shrugged and said, 'We can only get to know her as an individual. Sometimes it is not a bad thing to see how unique each person really is.' I agreed that accepting my daughter's differences was essential. But I worried that the physicians had missed something. For the next two months, I sat in front of the computer, flipping through Maggie's fifty-page medical chart and searching terms like 'multiple joint contractures,' 'vertical talus,' 'high arched palate' and 'micrognathia'. Eventually, I discovered pictures of children with similar limbs in medical journals and studies about arthrogryposis multiplex congenita, or AMC – an umbrella diagnosis describing infants born with multiple contracted joints. I showed Maggie's new pediatrician screenshots. The condition was incredibly rare, he said; in his 30-year career, he'd met only three babies who looked like my daughter, all during his time as a military physician overseas. He referred us to the closest specialty clinic, which was five states away in Philadelphia. 'She has a community. You just haven't met them yet,' he said. I knew the trip would be daunting with an infant and Maggie's two-year-old sibling in tow. But for the first time, I had some answers and knew where to look for more. Six months later, Maggie and I arrived for her first appointment at the clinic. We saw five specialists, which took nine hours. Some mysteries were solved. I learned the term for her feet: 'rocker bottom,' the soles curving like the bottoms of cartoon boats. Surgery could guide them to grow flatter and arched, so she could learn to bear weight and eventually walk. Since birth, Maggie's elbows had loosened, but her knees still didn't flex all the way. We would need to take annual weeks-long trips to Philadelphia so the doctors could slowly stretch Maggie's ankles and knees, wrap them in casts, saw off the casts a week later, stretch a little farther, and cast again. Still, we had no diagnosis. 'What caused all this?' I asked the doctors. I was afraid to voice my other questions: Will she walk or talk? How different will she be from her sibling? What decisions will I have to make? How will I know what is right? In the United States, parents of the one in 6 children with developmental delays ask such questions every day. For the approximately fifteen million children who have received a rare diagnosis, defined as one that affects fewer than 200,000 people, the future is unknowable. Some diagnoses, like Maggie's, are so rare that they aren't seen as profitable subjects for research funding. People with these 'orphan conditions' have to rely on themselves, their families, and grassroots endeavors to fund and discover treatments. Navigating the maze of anxiety and 'what ifs' felt relentless. Then I joined a Facebook group dedicated to the AMC specialist clinic we had visited, where parents shared pictures of their children, diagnoses, concerns, treatments, and contact information for specialists. I introduced myself and posted pictures of Maggie. Immediately, Alyssa Wolfe, a mother and nurse, messaged me. She pointed out that her daughter, Delaney, had the same rocker bottom feet as Maggie, a rarity in the group. Our daughters both had one middle finger stuck flexed at the joint, and similar faces: a small chin, and a broad nose bridge that makes their eyes look farther apart than most babies. Delaney was three years older than Maggie. For years, I tracked Alyssa and Delaney's progress through treatments, surgeries, and diagnoses. Having another parent to talk to about major decisions was a huge relief. Maureen Donohoe, a physical therapist, was also in the group, as she worked with many children with arthrogryposis. She had been gathering stories from patients like Maggie and Delaney because they 'were different from the others with AMC, but they had so many of the same characteristics, it was impossible to ignore', she said. Alyssa had met Maureen at an arthrogryposis conference before I joined the group. 'In an elevator, Maureen approached me, listing off Delaney's attributes. I asked her if she somehow read my child's medical chart. Maureen told me, 'No,' but she'd been hypothesizing with a geneticist about a syndrome, and she thought Delaney had it,' Alyssa said. After coming across six patients with these characteristics, Maureen had told Dr Judith Hall, a clinical geneticist and pediatrician, this might be a genetic anomaly worth studying. 'After Dr Hall looked at her own notes, she called me and said, 'I have ten,'' she said. Connecting with Alyssa and Maureen was the first major step in identifying Maggie's condition. But what was the next step? As Maggie grew, her development continued to be markedly different from that of other kids her age. By the time she was three, she could scoot but not yet crawl. Most kids her age with AMC had been mobile for at least a year. But one day, in physical therapy, she suddenly stood with the help of a toy shopping cart. Then she learned to use a walker. Over the years Maureen noticed a similar trend with kids like Maggie. 'They do their best weight-bearing and walking around preschool age,' she said. 'When they get older, they seem to have a harder time maintaining a center of gravity.' Sign up to Well Actually Practical advice, expert insights and answers to your questions about how to live a good life after newsletter promotion There was another big difference. Maggie was talking constantly, but her sounds were disorganized. Nobody could understand her. Most children with AMC alone had no speech problems at all. It was hard to find resources, but our speech therapist helped us get an iPad program that Maggie could use to talk. She'd press a button on a grid of images and common words, and the iPad would say the word. Her first sentence blew me away. Maggie was sitting at the dining room table eating breakfast while I washed dishes. 'I need money,' her talker said in a mechanized child's voice. I paused, holding a bowl. Maggie pressed the 'talk' button again, and the sentence repeated. She pointed at my purse and threw her head back, guffawing. She'd made a joke. I said, 'You need money!' over and over, laughing, nearly sobbing, dripping soapy water everywhere. Within a year, Maggie was using her talker to ask for snacks and toys, to complain, to tell her new baby brother, 'You're cute!' At school, Maggie verbally repeated every word she or her friends pressed. By the end of the school year, the talker was gathering dust in our coat closet. Maggie's limitations and sudden moments of progress surprised even the doctors who specialized in arthrogryposis. At every turn, I wanted to celebrate her success, but the gap widened between her and the other kids with the condition. Isolating a genetic anomaly is a 'diagnostic odyssey' that many families embark on, said Dr Michael Bamshad, head of genetic medicine in pediatrics at the University of Washington. 'There's all this data that sits locked away in medical records. A physician in one state may know of three similar cases, a physician in another state may know about five,' said Bamshad, 'but there aren't many ways for those families to find each other.' Bamshad, his colleague Jessica X Chong, and their colleagues have researched the power of social media in genetic discovery. They launched a secure, free genetic information sharing site, MyGene2, in 2016. 'Families and clinicians can share their genetic information to help them find answers,' said Chong. Alyssa and I input our daughters' data and hoped for more information. But the waiting game was long, and we felt powerless. Alyssa recently described it to me as a three-part process: 'In the beginning, parents are typically very active on social media, trying to understand their kid and hoping to give them as normal of a life as possible,' she said. Then, 'sometime in elementary or middle school, their development stalls' and the focus shifts from 'fixing' the issue to maintenance through puberty. This can all be 'very isolating', she said. 'Parents with typically developing kids often stop hanging out with you.' But 'an acceptance stage' can come via social media groups like ours, which are 'sometimes the only place to find connection and friends who understand'. In 2017, Catherine Paul-Fijten, a mother and molecular biologist who lives in Dubai, used Facebook groups to connect with parents whose kids resembled her daughter, Milou. I didn't know about Milou yet, but she had the same physical traits as Maggie, who was five by then. Milou's doctors had located a difference on the ZC4H2 gene shortly after birth, and Catherine organized a meeting of doctors and geneticists – including Maureen and Dr Bamshad – to review the current, albeit limited, research. Maureen sat next to Bamshad, scrolling through pictures of Maggie, Delaney, and other children with rocker bottom feet and tiny chins. Bamshad suggested that we both report our daughter's symptoms on MyGene2 and apply for testing. Within a year, the diagnosis was confirmed: Maggie also had an anomaly of the ZC4H2 gene. At the time, fewer than 50 people with a similar genetic difference had ever been identified. Catherine used personal resources to start a foundation to research the impacts of this new genetic diagnosis, updating a new, dedicated Facebook group regularly with insights. The diagnosis gave us a sense of belonging through the shared goal of understanding our kids and learning how to help them grow. The dramatic impact of online support groups for children with rare diagnoses has been well documented for more than twenty years. Online information sharing among parents has been found to strengthen treatment and mental health support for families and children with Spinal Muscular Atrophy (SMA), neurologic disorders, and other rare genetic disorders as well as more common diagnoses like diabetes and childhood cancers. While the ZC4H2 gene difference is rare, research into rare conditions is crucial – 'not just for the people who have that diagnosis – but for humanity as a whole', Catherine said. That's because 'much of what we know about the function of the human genome comes from understanding the genetic basis of rare diseases', said Bamshad, citing examples including common heart conditions and vaccine research. 'What we've learned about rare diseases helps us understand the genetic and molecular basis of common conditions as well.' The ZC4H2 group has nearly 200 members, though nearly 250 people with this condition have now been identified globally. Because of their stories, I was prepared. In 2023, at the beginning of sixth grade, Maggie suddenly presented with severe scoliosis, and I knew she'd likely need a full spinal fusion because I'd heard about related complications from our ZC4H2 community. I shared this information with Maggie's spinal surgeon, as well as a list of other surgeons who'd had to manage these complications, and she formed a pre-emptive plan. During Maggie's spinal surgery, I let myself get lost in the labyrinthian halls of the hospital for hours, cell phone in one hand, operating room pager in the other. As with her previous 10-plus surgeries, I didn't allow myself to imagine what was happening or what could go wrong. As I stood in the hallway, I scrolled through encouraging comments and messages from Alyssa, Catherine and others. Despite our different jobs, family culture and background, we'd collaborated with doctors, scientists, physical and speech therapists – and each other – for more than a decade. Their support didn't guarantee a perfect future for my daughter, but their generosity was a profound gift. The operating room pager went off. My phone rang. The charge nurse told me my daughter was waking up, that surgery had been a breeze. I rushed to the recovery room, tapping the app to share the news while I waited for Maggie to be wheeled in. At the top of the feed, a new member had posted about her child's fresh diagnosis, her questions, her fears. I abandoned my own update to type the words that changed the course of my life and Maggie's childhood: Welcome! You are not alone. Asha Dore is a journalist, illustrator, and speech-language therapist.
BBC News
16-07-2025
- Health
- BBC News
Wolverhampton children's hospital garden goes from 'drab' to fab
A "drab" children's hospital garden is undergoing a major makeover following a fundraising outdoor cinema screen and projector have been added at New Cross Hospital in Wolverhampton, and new paintwork, windows, flooring and play equipment will be by the parent of a patient began in 2024, with a company specialising in industrial, commercial and educational refurbishments doing the work for free."It has brought a drab and uninspiring space back to life, and now we can get down to building something that will stimulate, inspire and hopefully help children recover," said Amanda Winwood from Your RWTC, the registered charity of The Royal Wolverhampton NHS Trust. Plans to revamp the space started after Jason Guy, who has previously raised money for the charity, suggested the garden appeal after he spent Christmas in 2023 in hospital with his young daughter, who was being treated for a genetic condition."It kicked off from there," she said."He got [former footballer] Neil 'Razor' Ruddock involved - he had a Wolves tattoo on his arm, and Jason had a Millwall tattoo, which raised £10,000 - and Jason kept increasing the target." Mr Guy introduced the charity to the education refurbishment company, Inco, which decided to get Lewis, associate director at Inco Contracts, said each year it chooses which charity to support and chose the Royal Wolverhampton Trust last year and decided to do as much as they could for free to enable the money raised to go towards play equipment. The company has been painting and adding lighting and TV screens and the cinema feature."It was quite a drab garden, and we wanted to make it uplifting and have it accessible for all patients so we can now wheel a bed out," Ms Winwood said."Being in hospital is scary for anybody, but imagine being a child... you're used to playing in your garden, and that's what we want to give back. It's part of the rehabilitation for their journey."She said without the community making donations, they cannot "make above and beyond what the NHS provides", which is how the hospital charity helps and enables families and patients to use the said lots of people wanted to be involved and "make a difference" for the children at the Winwood said they welcomed anyone who wanted to become a charity volunteer and maintain the garden area and added that future projects were also being planned."Just continue supporting us, as we really do just want to make a difference," she said. Follow BBC Wolverhampton & Black Country on BBC Sounds, Facebook, X and Instagram.
