Latest news with #pediatrician
Daily Mail
19 hours ago
- Daily Mail
BREAKING NEWS Shocking behavior of Oklahoma pediatrician arrested for 'murdering daughter,' then claiming girl had drowned
A pediatrician mother hid in the laundry room from police as they beat down her door to arrest her for the death of her four-year-old daughter. Dr. Neha Gupta, 36, of Edmond, Oklahoma, was hiding in her home on July 1 when Oklahoma City Police Department and the US Marshals came banging on her door to arrest her. Gupta, who had recently been let go from her job and was in the midst of a custody battle, has been accused of killing her four-year-old daughter, Aria Talathi, while vacationing with her in Florida in June. Police have now accused the pediatrician of smothering her daughter to death and then placing her body in the pool in the backyard of the rental home in hopes of passing it off as accidental drowning. Marshals banged on the mother-of-one's door and yelled at her to come outside, but the mother did not, bodycam footage obtained by Daily Mail showed. After busting in the door, police found the mother hiding in the laundry room in what appeared to be her pajamas. Authorities searched her home with guns draw, finding children's toys - a reminder of the innocent life lost. After opening the laundry room door, they found the mother cowering in a corner. 'Hands, hands,' an officer yelled. 'Come out!' She came out of the room without incident, silently falling to the ground as officers handcuffed her. She was led out through the garage. Police had earlier observed Gupta near the door before retreating into the laundry room, the incident report obtained by Daily Mail said. Aria was vacationing with her mother when she was found unresponsive in the backyard pool of their El Portal, Florida, rental house on June 27. Aria's death came nearly a month after her mother was suspended from her job at OU Health and the University of Oklahoma in May and given a notice of termination. Gupta was also going through a custody battle with her ex-husband, Dr. Saurabh Talathi, after they divorced last year. Talathi, also of Edmond, told investigators that he wasn't aware his ex-wife had taken the toddler out of state, Local 10 News reported. Gupta told police she was awoken by a strange sound on June 27 and found her daughter unresponsive in the backyard pool around 3:30am. Aria was rushed to the hospital, where she was pronounced dead at 4:28am. However, while doctors were examining the little girl, they found cuts and bruising inside the toddler's mouth, suggesting she may have been smothered to death and had her body placed in the pool, NBC Miami reported. They also didn't find water in the girl's lungs - disputing the mother's story that she drowned. Gupta was arrested and charged with first-degree murder. The mother-of-one had told authorities she and the little girl had enjoyed dinner around 9pm before going to sleep in the same bed in the master bedroom of the rental home around 12:30am. When she was awoken by an 'unidentified noise' hours later, she claimed she saw her daughter submerged in the pool. She claimed she had attempted to save her daughter, but was unable to as she didn't know how to swim. Gupta also told police she had attempted to 'assist the deceased victim' for approximately 10 minutes before calling 911. The girl's stomach was also found empty, which contradicted Gupta's claim that she had fed the child earlier that evening. Detectives said surveillance video and the autopsy report burn holes in Gupta's account and suggested she had staged the girl's death. 'The subject attempted to conceal the killing of the deceased victim by staging an accidental drowning within the swimming pool of a rental property,' the affidavit said. The doctor was arrested in Oklahoma City on July 1 by US Marshals and the Oklahoma City Police Department. She was booked into the Oklahoma County Detention Center and was held without bond until her extradition. Gupta is still being held without bond at the Miami-Dade Jail in Florida. Miami-Dade Sherriff's Detective Joseph. R. Peguero Rivera told Daily Mail earlier this month that they did not know what the motive was for the brutal crime. It is also unclear if the child's remains are in Florida or if they have been transferred back to Oklahoma. Gupta's lawyer, Richard Cooper, previously told Local 10 that police 'rushed to judgement' and 'as a result, a grieving mother who just lost her daughter is in jail.' 'We look forward to a full investigation which will uncover the truth of the matter,' he said. Gupta is expected back in court for her Florida arraignment hearing on August 7. Daily Mail has reached out to Gupta's attorneys for comment.
CBC
2 days ago
- Health
- CBC
Alberta mother feared the worst for 4-month-old with measles
Months after fearing she would lose her baby girl to measles, Morgan Birch says she wants Canadians to educate themselves more about the importance of vaccines. Birch's daughter, Kimie Fukuta-Birch, was too young to be eligible for the vaccine, which is not routinely given to children under a year old. But she feels her baby would not have been infected if more people around her had received the vaccine. "Basically as parents, it's your responsibility to educate yourself with the help of your pediatrician and health-care professionals," she said. "I feel this was completely preventable." Birch, who lives in Fort Saskatchewan, Alta., said she is also worried that her daughter may suffer long-term health complications as a result of her getting measles at such a young age. "It's not just that parent or child who it affected when they don't vaccinate, there's a whole other population that needs to be protected by vaccines." Birch isn't certain where her daughter got infected, but said she took her out in the Fort Saskatchewan community before she got sick. Alberta has become a hot spot for measles, with the province reporting nearly 1,380 infections since the beginning of March. This is more than the total number of cases reported in the United States. Ontario has also reported more than 2,270 infections since an outbreak began last fall. Alberta's immunization rates against measles for children fall below the recommended rate of 95 per cent that scientists say is needed to prevent the illness from spreading. The province's 2024 data shows that by age two, 80 per cent of children received one dose of the measles, mumps and rubella vaccine, and 68 per cent received both doses. Alberta's vaccination schedule for the two-part shot calls for the first dose at 12 months and the second at 18 months. But even by age seven, only 71.6 per cent had received both doses, provincial data shows. However, it's not the only province with low immunization rates against measles among children. Three out of the four Atlantic provinces told The Canadian Press they also had immunization rates below the 95-per-cent threshold, while one province, Newfoundland and Labrador, has not responded to requests for its data. WATCH | Canada measles outbreaks are preventable, says family doctor: Family doctor says measles outbreaks in Canada are entirely preventable 5 days ago While B.C. has recorded a little over 100 cases of measles as of July 5, neighbouring Alberta has recorded more cases than the entirety of the U.S. despite having a fraction of the population. Dr. Susan Kuo, a Richmond family physician, said the current outbreak could be prevented with up-to-date vaccinations, and the COVID-19 pandemic had led to an increase in vaccine skepticism and poor disease mitigation. Last week, Dr. Kimberley Barker, regional medical officer of health for Sussex, N.B., said measles cases were rising due to factors such as vaccine hesitancy. In some cases, she said parents are too busy and may underestimate the seriousness or risk of infection. Barker said officials are ramping up immunization campaigns when schools start in September to make it easier for kids with busy parents to get vaccinated. Other provinces are also making it easier to get immunized through walk-in clinics, community health centres and health-care providers. Birch explained how the consequences could be severe for those who don't follow recommendations from their local public health officials and doctors. She recalled that before her daughter's bout of measles, she was a happy baby. But it took a month for Kimie to recover from the infection. And although she is now back to her "happy self," Birch said she seems to be falling sick more than she used to. "Her immune system has to be built up again." Overall, Canada has a total of 3,822 confirmed measles cases from Alberta, British Columbia, Manitoba, New Brunswick, Northwest Territories, Nova Scotia, Ontario, Prince Edward Island, Quebec, Saskatchewan, as of July 5. New Brunswick has confirmed 14 cases. Lingering risks Shelly Bolotin, director of the Centre for Vaccine Preventable Diseases at the University of Toronto, said the first does of the measles vaccine is usually given at 12 months. But children as young as six months can also be given the shot if they are travelling or living in an area with an outbreak. Although, she added those children who receive a dose at six months will still need to receive two subsequent doses. "As people are going out of town and taking trips — if they are going to measles endemic areas — they can protect their infant if they're a minimum of six months old," Bolotin said, adding it takes up to two weeks for the vaccination to take effect. Bolotin said the incubation period for measles is up to three weeks from the time a person is exposed to the disease until they start experiencing symptoms. Measles infects the immune cells, erasing a lot of the previous immunity and leaving the person susceptible to other bacterial and viral infections for several years, she said. "The technical term is measles immune amnesia." Children who recover from measles can experience other infections more frequently because they have lost this immunity and don't realize that this is a long-term effect of measles infection, she noted. There is also a rare and fatal form of neurological deterioration — subacute sclerosing panencephalitis — that happens in four to 11 in every 100,000 cases, she said. This disorder occurs when measles remains in the body latently, she added. Some of the symptoms include behavioural changes, cognitive decline, jerks, and seizures,with the onset of the disease being late childhood or adolescence. Childhood complications "Canada worked very, very hard to eliminate measles, and we achieved measles elimination in 1998 which means the World Health Organization has recognized that it wasn't circulating regularly in our country, and now we're at risk of losing that," Bolotin said. "And that would be a shame." Dr. Anna Banerji, associate professor of pediatrics at the University of Toronto, said some children suffer from complications after measles such as pneumonia, hepatitis or encephalitis. Measles can also cause deafness and blindness, especially if the child is malnourished. Measles cases in Alberta surpass 1,300 4 days ago As Alberta's measles outbreak continues to grow, some residents are reconsidering travel plans — particularly families with young children or individuals with autoimmune concerns. Dr. Christopher Labos addresses and debunks common misinformation about measles vaccines and preventative treatments. CORRECTION (July 18, 2025): A previous version of this title incorrectly stated the number of confirmed measles cases in Alberta as 13,000. In fact, the number of cases in the province is 1,300. After recovering from a bout of infection, Banerji said some children have temporary low immunity. "It can take a while to recover," she said. Meanwhile, Birch said she will carry the heartbreak, frustration and feeling of helplessness as she watched her four-month-old daughter fight measles. "She could have died," she said of her daughter. "A lot of kids died from measles back before there were preventive measures in place."
CTV News
2 days ago
- Health
- CTV News
‘She could have died.' Alberta mother feared the worst for 4-month-old with measles
Four-month-old Kimie Fukuta-Birch of Fort Saskatchewan, Alta., seen in this undated handout photo, was diagnosed with measles. Her mother, Morgan Birch, says she feared the worst for her daughter. While Kimie has now recovered, Birch says she faces a long road to recovery. THE CANADIAN PRESS/Handout — Morgan Birch (Mandatory Credit) Months after fearing she would lose her baby girl to measles, Morgan Birch says she wants Canadians to educate themselves more about the importance of vaccines. Birch's daughter, Kimie Fukuta-Birch, was too young to be eligible for the vaccine, which is not routinely given to children under a year old. But she feels her baby would not have been infected if more people around her had received the vaccine. 'Basically as parents it's your responsibility to educate yourself with the help of your pediatrician and health-care professionals,' she said. 'I feel this was completely preventable.' Birch, who lives in Fort Saskatchewan, Alta., said she is also worried that her daughter may suffer long-term health complications as a result of her getting measles at such a young age. 'It's not just that parent or child who it affected when they don't vaccinate, there's a whole other population that needs to be protected by vaccines.' Birch isn't certain where her daughter got infected, but said she took her out in the Fort Saskatchewan community before she got sick. Alberta has become a hot spot for measles, with the province reporting nearly 1,380 infections since the beginning of March. This is more than the total number of cases reported in the United States. Ontario has also reported more than 2,270 infections since an outbreak began last fall. Alberta's immunization rates against measles for children fall below the recommended rate of 95 per cent that scientists say is needed to prevent the illness from spreading. The province's 2024 data shows that by age two, 80 per cent of children received one dose of the measles, mumps and rubella vaccine, and 68 per cent received both doses. Alberta's vaccination schedule for the two-part shot calls for the first dose at 12 months and the second at 18 months. But even by age seven, only 71.6 per cent had received both doses, provincial data shows. However, it's not the only province with low immunization rates against measles among children. Three out of the four Atlantic provinces told The Canadian Press they also had immunization rates below the 95-per-cent threshold, while one province, Newfoundland and Labrador, has not responded to requests for its data. Last week, Dr. Kimberley Barker, regional medical officer of health for Sussex, N.B., said measles cases were rising due to factors such as vaccine hesitancy. In some cases, she said parents are too busy and may underestimate the seriousness or risk of infection. Barker said officials are ramping up immunization campaigns when schools start in September to make it easier for kids with busy parents to get vaccinated. Other provinces are also making it easier to get immunized through walk-in clinics, community health centres and health-care providers. Birch explained how the consequences could be severe for those who don't follow recommendations from their local public health officials and doctors. She recalled that before her daughter's bout of measles, she was a happy baby. But it took a month for Kimie to recover from the infection. And although she is now back to her 'happy self,' Birch said she seems to be falling sick more than she used to. 'Her immune system has to be built up again.' Overall, Canada has a total of 3,822 confirmed measles cases from Alberta, British Columbia, Manitoba, New Brunswick, Northwest Territories, Nova Scotia, Ontario, Prince Edward Island, Quebec, Saskatchewan, as of July 5. New Brunswick has confirmed 14 cases. Shelly Bolotin, director of the Centre for Vaccine Preventable Diseases at the University of Toronto, said the first does of the measles vaccine is usually given at 12 months. But children as young as six months can also be given the shot if they are travelling or living in an area with an outbreak. Although, she added those children who receive a dose at six months will still need to receive two subsequent doses. 'As people are going out of town and taking trips — if they are going to measles endemic areas — they can protect their infant if they're a minimum of six months old,' Bolotin said, adding it takes up to two weeks for the vaccination to take effect. Bolotin said the incubation period for measles is up to three weeks from the time a person is exposed to the disease until they start experiencing symptoms. Measles infects the immune cells, erasing a lot of the previous immunity and leaving the person susceptible to other bacterial and viral infections for several years, she said. 'The technical term is measles immune amnesia.' Children who recover from measles can experience other infections more frequently because they have lost this immunity and don't realize that this is a long-term effect of measles infection, she noted. There is also a rare and fatal form of neurological deterioration — subacute sclerosing panencephalitis — that happens in four to 11 in every 100,000 cases, she said. This disorder occurs when measles remains in the body latently, she added. Some of the symptoms include behavioural changes, cognitive decline, jerks, and seizures, with the onset of the disease being late childhood or adolescence. 'Canada worked very, very hard to eliminate measles, and we achieved measles elimination in 1998 which means the World Health Organization has recognized that it wasn't circulating regularly in our country, and now we're at risk of losing that,' Bolotin said. 'And that would be a shame.' Dr. Anna Banerji, associate professor of pediatrics at the University of Toronto, said some children suffer from complications after measles such as pneumonia, hepatitis or encephalitis. Measles can also cause deafness and blindness, especially if the child is malnourished. After recovering from a bout of infection, Banerji said some children have temporary low immunity. 'It can take a while to recover,' she said. Meanwhile, Birch said she will carry the heartbreak, frustration and feeling of helplessness as she watched her four-month-old daughter fight measles. 'She could have died,' she said of her daughter. 'A lot of kids died from measles back before there were preventive measures in place.' This report by The Canadian Press was first published July 22, 2025. Hina Alam, The Canadian Press
The Guardian
2 days ago
- 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.
The Guardian
3 days ago
- 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.
