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Newsweek
a day ago
- Health
- Newsweek
Parents Welcome Baby Girl, 4 Months Later They Realize Something Is Wrong
Based on facts, either observed and verified firsthand by the reporter, or reported and verified from knowledgeable sources. The mother of a 6-year-old girl has shared the story of learning her daughter was born blind, and how far they have come together as a family. Skin specialist Hayley Steinbach, 30, lives in Essex in the U.K. with her builder husband, Zak, 31, and their three children, including daughter Elsie. She was diagnosed with optic nerve hypoplasia as a baby—but getting that initial diagnosis was far from easy. "The moment I realized Elsie, at 4 months old, wasn't tracking anything properly, I was so confused and concerned," Steinbach told Newsweek. "Our doctor had told me eight times that Elsie's eyes were OK, and it was just a blocked tear duct." Elsie is the couple's first child, and so the new parents were "unaware of how delayed her vision was—we thought it was normal eye behavior for a newborn." But when Steinbach realized her daughter wasn't able to give her any eye contact at all, she returned to the doctor and pleaded for help. This time, the doctor shared her concern, and asked her to step out of the room as he made an immediate hospital appointment for the baby girl. "As soon as I walked out, into the waiting room, I broke down and rang for my husband to come immediately as my legs went to jelly—I was so scared for Elsie," Steinbach said. "Five days later she was diagnosed with optic nerve hypoplasia. We had no idea what this condition was, and what this meant for our baby girl." Optic nerve hypoplasia is a congenital disorder where the optic nerves in the eye are underdeveloped. While the cause of ONH is not yet understood, it can lead to abnormal eye movements, and can lead to a person having no light perception at all, according to the National Organization for Rare Disorders (NORD). Left, Hayley Steinbach, Zak embrace Elsie on the day she was born; and, right, the baby aged 6 weeks. Left, Hayley Steinbach, Zak embrace Elsie on the day she was born; and, right, the baby aged 6 weeks. TikTok @elsieseyearmy Recalling those terrifying early days, Steinbach said: "My world went black and went quiet like when someone dies—I felt heartbroken and gut sick. I was terrified for Elsie, and I had no idea what was best for her. We were new to becoming parents, and now we were new to how to help someone who's blind. "I'd never even met a blind person before, never knew what Braille was. We were completely clueless, which made it so scary—and no one else around us could help us, no one around us knew what was best for Elsie or how any of us could help Elsie the best." The couple were "so worried and scared for her future"—but, together, the family got through it. Steinbach and Zak learned alongside Elsie as she navigated the world, including learning Braille, as they knew it would "now be a part of our life, and we would need to know it to be able to teach Elsie." As time went on, they learned that Elsie has "no vision in her right eye, and [in] her left eye, she has minimal vision, but she uses that vision to her fullest." "Elsie's eyesight has gone against what the consultants said and still say now; they are amazed at what she can do with the small amount of vision she does have," proud mom Steinbach said. She added that Elsie's optic nerves are the "same size in both eyes," so it is a "miracle" she has any sight in her left eye. Elsie now wears glasses to help her left eye with long-sightedness, and uses both Braille and size-72 text to read and work at school. And, close to seven years after that first terrifying diagnosis, her mom says Elsie has "made all my thoughts and worries go away." "There is nothing she's not able to do like a child her age, but she just does it in her own little way and is teaching us along the way. "Elsie is full of confidence and no fear; she does everything! I never imagined her life to be so 'normal'. Elsie is incredible and amazes us every single day; she is the happiest little girl you could meet." The little girl, described as "extremely confident," is now an older sister to Dolsie, 3, and 2-year-old Elvis, and has big plans for her life, as her mother said her daughter "wants to be a performer—acting, singing, dancing." Left, the family smile on a trip to Disney not long after Elsie's diagnosis, and right, the girl now, aged 6. Left, the family smile on a trip to Disney not long after Elsie's diagnosis, and right, the girl now, aged 6. TikTok @elsieseyearmy Steinbach shared Elsie's story to her TikTok account, @elsieseyearmy, where she wrote in a caption that she hopes it can "help families in [those] dark few months see that being blind won't stop your baby from doing anything." It had a major online reaction, racking up close to 3 million views and more than 92,000 likes, as commenters flocked to the video asking questions about Elsie and her journey, and some sharing their own experiences with ONH. A fellow parent wrote: "My little boy was thought to be completely blind for life but is now just completely blind in his left eye and has 6/38 vision in his right and gets on with life almost as a normal sighted child, I don't understand how but he's amazing." Another urged Elsie's parents to continue to "love her and encourage everything, be her biggest cheerleader," as a third posted: "What absolutely beautiful parents you are. She is utterly perfect in every way." And as one comment read: "Sweet Elsie! I wish you a life full of joy and happiness in the best form available! God Bless you!" Steinbach said: "I think mine and my husband's worries for Elsie will always be there; through every stage of Elsie's life, we will worry she will struggle and come up with more challenges. But, with Elsie's personality and determination, we know Elsie will not let anything affect her—it will affect us more as parents watching her." In a message to everyone learning about Elsie's story, Steinbach added: "Elsie is blind, despite the small bit of vision she does have. "Being blind does not mean seeing nothing; it means being severely sight-impaired, like Elsie is. Being blind does not stop Elsie from doing anything; she just does it in her own way."
STV News
3 days ago
- Health
- STV News
Mum left 'helpless' after baby son diagnosed with rare life-limiting disease
An Aberdeen mum has called for more support to be made available for those with rare conditions after her son was born with a life-limiting disease. On August 30 last year, Bobbie Hardingham and Callum Booth welcomed Tommy Booth into the world. He was born four weeks prematurely and kept in Aberdeen Royal Infirmary's neonatal unit due to his low body temperature. After undergoing numerous tests, medical teams were unable to identify the issue. Less than one month after welcoming their boy into the world, the couple returned to the hospital as Tommy was having difficulty breathing and his body temperature dropped to 28C. Tommy was airlifted to Edinburgh for treatment and further tests and scans. Doctors still had difficulty identifying the route of the youngster's problem. STV News Tommy Booth was diagnosed with Menkes disease. Finally, a genetic test was carried out, which revealed that Tommy had an adrenal deficiency affecting his kidneys. The family believed Tommy would be on steroids for the rest of his life however on April 2, the couple were told it was 'not good news' by doctors. Tommy was diagnosed with Menkes disease, a rare, inherited X-linked recessive disorder that affects copper metabolism. Symptoms include kinky and sparse hair, hypothermia, developmental delays, and seizures. According to the National Organization for Rare Disorders, the condition affects one in 35,000 live male births. A majority of children born with Menkes disease do not live past the age of three. Bobbie says she felt 'helpless' after being told her son had an incurable condition. The mum told STV News: 'I just broke down, I couldn't believe it. 'I didn't understand it fully at the time. When the doctors said there was nothing they could do, you just felt helpless and felt you'd done something wrong. STV News Tommy Booth received the diagnosis following a genetic test. 'But of course, we haven't done anything wrong, this just happened. There aren't any words to describe how you feel at that time. You just feel numb. 'There were no leaflets about support, it just felt isolating.' The family believe the ordeal their nine-month-old son is facing has completely shifted their perspective on life. Bobbie added: 'There were things I'd moan about in the morning that I wouldn't complain about anymore. 'When you get hit with something like that, it changes you. To be honest, I don't know how we are coping. 'Our family and friends have been encouraging us and supporting us. If we didn't have them around us, I don't know how we'd continue.' Tommy's condition has deteriorated over time, meaning he is unable to sit up, grab things or smile. He has also started to have seizures, and his parents believed at one point, he would no longer be able to eat. The 36-year-old mum hopes sharing her son's story will help other families across the country notice the signs of the condition. Bobbie also believes that more help should be made available for those living or caring for someone with a rare condition. Bobbie said: 'We want to raise awareness of this awful disease. 'We need to make Tommy as happy as we can. As a family, we can make as many memories and show Tommy as much love as we can. 'We need to make sure that Tommy is as comfortable as possible. For children with rare conditions, there isn't that support. STV News Tommy's mum believes more should be done to support those with rare conditions. 'There's hundreds and thousands of children with conditions that don't have the support they need.' The Scottish Government says it remains 'committed' to raising awareness of rare conditions and ensuring support is available. A Scottish Government spokesperson said: 'We are very sorry to hear about this family's experience, and our thoughts are with them as they navigate the challenges of this extremely rare and life-limiting condition. 'We recognise that living with a rare condition can have a significant impact not only on the individual but also on their families and carers. 'That is why we are committed to improving care and support through our Rare Disease Action Plan for Scotland, which focuses on faster diagnosis, better coordination of care, increased awareness among healthcare professionals, and improved access to specialist services.' A fundraiser has been set up to support Tommy's medical needs. Get all the latest news from around the country Follow STV News Scan the QR code on your mobile device for all the latest news from around the country
NDTV
18-05-2025
- Health
- NDTV
US Woman Tells How Rare Allergic Reaction From Acne Drug Nearly Killed Her
What began as a routine treatment for teenage acne spiraled into a near-death medical crisis for Elle Dunn, who was just 15 when she was prescribed Minocycline, a commonly used antibiotic. Now 27, Dunn is revisiting the terrifying episode in a viral TikTok video, shedding light on a rare and potentially fatal condition that went undiagnosed for weeks. Her experience underscores the hidden risks of even routine medications - an important reminder for patients and healthcare providers alike. Initially, Dunn experienced seemingly minor symptoms - jaw pain, skin rashes, and fatigue - that rapidly progressed into a full-body reaction. Things took a frightening turn during her sister's wedding, where she developed severe hives and a dangerously high fever. Rushed to the hospital, she was placed in intensive care as doctors struggled to identify the cause. "I remember just feeling like my body was shutting down," she told PEOPLE in an interview. "The last thing I remember is hearing beeping. Everything went black - then I saw myself from above. I saw the doctors, the nurses, and my parents being rushed out. It wasn't scary. It almost felt peaceful, like a dream." For nearly 30 minutes, Dunn was clinically unresponsive - an experience that left her family shaken. Initially misdiagnosed with Parvovirus, her condition continued to worsen over six weeks. Eventually, doctors identified the real cause: DRESS syndrome (Drug Reaction with Eosinophilia and Systemic Symptoms) - a rare but severe reaction to medication. According to the National Organization for Rare Disorders, DRESS syndrome can affect the skin, blood, and internal organs including the liver, kidneys, lungs, and heart. The immune system essentially launches an attack against the body - triggered by certain medications, including some antibiotics. "I had never heard of DRESS before," Dunn said. "I had no idea that something prescribed for acne could almost take my life." The treatment was intense: high doses of steroids to suppress her immune response, leaving her weak but alive. Recovery was slow and painful, but she considers herself fortunate. "Yes, I technically 'died,' but I survived without permanent damage. Some patients lose their hair or suffer long-term organ damage. I was lucky." More than a decade later, the experience has left Dunn hyper-cautious about any medication she takes. "I always ask doctors twice now. I don't ever want to relive that," she says.
Yahoo
13-05-2025
- Health
- Yahoo
Arizona Becomes the 31st State With a Rare Disease Advisory Council
New State Council Will Help Shape Health Policies for Arizonans Living with Rare Diseases PHOENIX, May 13, 2025 /PRNewswire/ -- The National Organization for Rare Disorders (NORD®) celebrates a significant milestone for the rare disease community as Arizona Governor Katie Hobbs has signed House Bill 2380 into law, establishing the Arizona Rare Disease Advisory Council (RDAC). This legislation, introduced by Representative Alma Hernandez, supported by the National Organization for Rare Disorders (NORD®) and patient organizations from Arizona and across the United States, brings new hope to rare disease patients across the state by ensuring a dedicated body to address their unique healthcare needs. "The establishment of Arizona's Rare Disease Advisory Council represents the power of grassroots advocacy and community collaboration," said NORD Chief Executive Officer Pamela K. Gavin. "From passionate patients and dedicated clinicians to committed lawmakers, Arizonans came together with a unified voice to create meaningful change. NORD is immensely proud to have supported this community-driven initiative. This council will ensure that the unique challenges faced by rare disease patients and families in Arizona are not only heard but addressed through informed policy and dedicated action." "I am proud to have been able to work with the stakeholders and those living with rare diseases for the last two years to make this legislation possible," said Representative Alma Hernandez. "It is time for Arizona to move the needle and find ways to support this community. This committee will allow for new recommendations for lawmakers to better support this community. I look forward to the first convening and the ability to learn from the experts in this field, improve the lives of others, and develop better policies to diagnose and treat Arizonans living with a rare disease." With the governor's signature on May 12, Arizona becomes the 31st state with an RDAC. The council will include dedicated stakeholders from across the rare disease landscape, including physicians and other health care providers, patients, caregivers, researchers, and members of the pharmaceutical and insurance industries. The membership of the RDAC will reflect the unique geographical and population of Arizona. "As both a rare disease patient and a provider for children with medically complex and rare conditions, I'm excited to see Arizonans gain a stronger voice in future policy," said Melissa Meyer, DNP, a NORD volunteer. "My rare disease didn't happen to me — it happened for me. It gave me the empathy to better support my patients and the inspiration to teach future nurse practitioners how to advocate. I'm deeply grateful for this journey and hopeful about the impact the RDAC will have." Of the more than 10,000 known rare diseases, only approximately 5% have a Food and Drug Administration (FDA)-approved treatment. Diagnosis can take years for many rare disease patients, and their direct medical costs are three to five times higher than someone of similar age without a rare disease. This council will serve to educate lawmakers and state agencies about these challenges and provide recommendations for policies that benefit the more than 30 million Americans living with rare diseases, including approximately one in 10 Arizonans. The Arizona RDAC will work to improve patient access to specialists, affordable healthcare coverage, timely diagnostics, and necessary treatments through policy recommendations and public education initiatives. Individuals can get involved and support their state's rare disease community by joining NORD's Rare Action Network® and learning more about NORD's Project RDAC and Rare Disease Advisory Councils. About the National Organization for Rare Disorders With a 42-year history of advancing care, treatments, and policy, the National Organization for Rare Disorders (NORD®) is the leading and longest-standing patient advocacy group for the 30 million Americans living with a rare disease. A nonpartisan, independent 501(c)(3) nonprofit, NORD is dedicated to individuals with rare diseases and the organizations that serve them. NORD, along with its more than 350 patient organization members, is committed to improving the health and well-being of people with rare diseases by driving advances in care, research, and policy. View original content to download multimedia: SOURCE National Organization for Rare Disorders (NORD®) Sign in to access your portfolio
