Latest news with #RareDiseaseDay
Scottish Sun
21-06-2025
- Health
- Scottish Sun
Doctors said my baby boy had colic – now he lives with a lifelong seizure disorder and too many brain tumours to count
Thomas, now 13, has daily seizures - sometimes lasting up to three hours at a time - and uses a wheelchair DEVASTATING IMPACT Doctors said my baby boy had colic – now he lives with a lifelong seizure disorder and too many brain tumours to count Click to share on X/Twitter (Opens in new window) Click to share on Facebook (Opens in new window) WHEN five-month-old Thomas Ward began screaming inconsolably on Valentine's Day in 2012, doctors told his mum Philippa that he likely had colic and might be teething. Nine days later, 'the bottom fell out' of Philippa's world when her son was diagnosed with a genetic disorder that causes tumours to form on numerous organs, including the brain. Sign up for Scottish Sun newsletter Sign up 6 Thomas has a genetic disorder which causes tumours to grow on his brain 6 Doctors initially told his mum Philippa that he likely had colic or was teething Thomas is now 13 and has "more tumours than doctors can count". His devastating condition impacts nearly every aspect of his life, causing developmental delays, terrifying three-hour seizures, and the need for a wheelchair. Here, Philippa, 47, a communications professional from York, tells their story… 'YOU can't possibly think Thomas is having seizures, can you?' I will never forget the response from the out-of-hours doctor when I took my then-five-month-old son to the hospital one weekend in February 2012 after he began behaving unusually, crying incessantly and making strange, jerky movements. We were dismissed and told it was likely a simple case of colic - when a baby cries a lot but there is no obvious cause - or that he might be teething. Unhappy with this outcome, and as the symptoms continued, a few days later I took Thomas to see our local GP. She agreed he was behaving unusually and wrote to the paediatrician at the local hospital. There was no indication that Thomas had a medical problem that needed to be urgently addressed, but my instincts told me otherwise. The following day, I packed a bag, took my older son Ben to nursery and walked to A&E with Thomas. Mum shares red-flag warning sign on her baby's head that turned out to be meningitis - triggering 15 seizures As soon as the doctor saw him, he diagnosed Thomas with infantile spasms - a rare and damaging form of epilepsy. He then revealed my wonderful little boy might have tuberous sclerosis complex (TSC), but he would have to be transferred to a larger hospital for an MRI scan to confirm the diagnosis. It was a terrifying time. February 29 is recognised around the world as Rare Disease Day, and it also happens to be the day Thomas was officially diagnosed with TSC, which causes tumours to form on the eyes, heart, kidneys, skin, lungs and brain. My legs gave way when we found out. It felt as though the bottom had fallen out of my world. My husband David and I learned that our son had numerous tumours on his brain and that they could cause cognitive impairment, developmental delays, behavioural problems, autism spectrum disorder, and seizures, which often cannot be adequately controlled using standard medications. We were also told that there are no approved therapies that address the root cause of TSC, so our only care options for Thomas were various therapies, symptom-based medications and possibly surgery. The days that followed were a blur. 6 Philippa, from York, says her son's condition affects their lives every single day 6 Thomas now has 'too many tumours on his brain to count' Despite an estimated one million people living with it worldwide, TSC is classified as a rare disease. If Thomas hadn't been diagnosed with it, I'd probably never have heard of it myself. Thomas underwent a few more tests before being discharged from hospital. As we were leaving, the neurologist handed us a leaflet from the Tuberous Sclerosis Association (TSA) - the UK charity dedicated to helping families affected by TSC. It felt like a strange consolation prize after receiving such a massive, life-changing diagnosis, but it became a lifeline, signposting to many of the resources and support available to us. We also joined a newly-formed Facebook group for other parents of children with TSC, and through that met some people who have gone on to become friends. But TSC continues to affect us every single day. There is nothing more heartbreaking than hearing a toddler shout: 'Seizure, seizure!' Philippa Ward Thomas is now 13, and like many people with TSC, he experiences seizures most days. At one point, Thomas was having up to eight seizures a day. Today, he typically still has at least one, usually right after waking up. They can last up to three hours at a time. He is not able to verbally communicate and has delayed motor skills. He often uses a wheelchair for outings to ensure his safety. Thomas requires regular medical scans and monitoring to track his tumours - there are now too many on his brain to count. He has been on numerous anti-epileptic medications, but none have fully relieved him from the exhausting seizures. TSC has put our entire family on a rollercoaster ride. As parents, there has been so much to learn about having a child with complex medical and developmental needs. FAMILY IMPACT It is especially difficult for us to witness the effect on our elder son, Ben. By age three, he could recognise a seizure and learned to alert us if Thomas was having one. There is nothing more heartbreaking than hearing a toddler shout: 'Seizure, seizure!' Ben, now 15, is very aware of his brother's needs. He understands the importance of being quiet in the evenings so Thomas can sleep. There are many activities we can't do as a family due to safety and accessibility issues. As a young carer, Carers UK provides him with support and resources when needed. 6 The now-13-year-old has seizures every day, sometimes lasting three hours at a time 6 He is a 'lovely young man with a vibrant personality', his mum says Despite the challenges Thomas has faced throughout his life, he remains a lovely young man with a vibrant personality and clear passions. He is a remarkable problem solver and even though he cannot speak, he is able to communicate very effectively when he wants something. He's a gentle and affectionate soul and a joy to be around. Thomas' favourite foods are chips, toast and avocado - he also loves ketchup and mayonnaise. He enjoys going on train rides, car journeys, watching YouTube videos and listening to music. His favourite person in the world is his big brother. One of the most important things we've learned since Thomas' diagnosis is the importance of community, especially one that understands your unique circumstances. What is tuberous sclerosis complex? ABOUT one million people worldwide are living with tuberous sclerosis complex, and up to 11,000 are diagnosed in the UK. It causes non-cancerous tumours to grow on the brain, as well as the eyes, heart, skin, kidneys and lungs. These tumours, which impact the central nervous system, can result in cognitive impairment, developmental delays, behavioural problems, autism, and seizures, which often can't be controlled by standard medicines. The condition can also cause skin abnormalities (such as patches of light-coloured or thickened skin, or red acne-like spots on the face), breathing difficulties, hyperactivity, kidney issues and a build-up of fluid on the brain. TSC is present from birth, although it may not cause obvious problems immediately. It is caused by changes in either the TSC1 or TSC2 gene, which are involved in regulating cell growth. There is no cure, but medicine, surgery and educational support can help. Many people with TSC will have a normal lifespan, although a number of life-threatening complications can develop. These include a loss of kidney function, a serious lung infection called bronchopneumonia and a severe type of epileptic seizure called status epilepticus. Patients may also have an increased risk of developing certain types of cancer, such as kidney cancer, but this is rare. Source: NHS Families impacted by serious conditions, especially rare diseases, often find themselves feeling isolated and alone in the weeks and months following a diagnosis. We are hugely fortunate to have our own family close by, and they are a great support to us, as is the wider TSC community around the UK and beyond. Since Thomas' diagnosis, I have done everything in my power to advocate for TSC awareness. I took part in the Great North Run to raise money for the TSA, have spoken at conferences and awareness events, shared our family's story with my workplace, and advocated for the TSC community within the NHS. There are a number of messages that I hope people take away from our family's story. Firstly, research for rare diseases like TSC is critical. While only between 3,700 and 11,000 people in the UK are diagnosed with TSC, each of these diagnoses impacts everyone in the patient's life. 'On constant alert' Having a treatment for TSC would be amazing. Thomas' frequent seizures require everyone in our house to be on constant alert. It's not easy, but Thomas is a wonderful young man, and he makes it all worthwhile. We remain hopeful that there will one day be a treatment that can improve Thomas' quality of life - and ours. I also want to remind parents of children with TSC, or any rare disease, of the importance of living in the present. When your child is diagnosed with a condition like TSC, it's understandable to ask: Why does my child have this disease? What will our future look like? We immediately begin grieving the child we thought we would have. I still don't fully understand why Thomas has TSC, but David and I are able to find tremendous joy in our lives with our son every day. The best things we can do are keep him safe, meet him where he is, help him enjoy life, and love every part of who he is. I look forward to the day when Thomas and others with TSC can access safe and effective treatment options. Until then, I am committed to making the world more inclusive and understanding.
Yahoo
11-03-2025
- Entertainment
- Yahoo
Royal Family Member Dead at 22 From Rare Disease
Prince Frederik—the son of Prince Robert of Luxembourg, the first cousin of , the current ruler of Luxembourg—died at the age of 22 in early March after living with PolG mitochondrial disease all his life. The sad news was announced by Robert in a blog post on the website for The POLG Foundation, a nonprofit foundation founded by Frederik's family after his diagnosis in 2016. 🎬 🎬 "It is with a very heavy heart that my wife and I would like to inform you of the passing of our son, The POLG Foundation Founder and Creative Director, Frederik," began the message. "Last Friday, February 28th, on 'Rare Disease Day', our beloved son called us in to his room to speak to him for one last time." Robert recalled Frederik's emotional goodbyes to himself, his brother Alexander, his sister Charlotte, his cousins and more family members, noting, "He had already spoken all that was in his heart to his extraordinary mother [Julie], who had not left his side in 15 years." He went on to share Frederik's last question to him, "Papa, are you proud of me?" with Robert sharing, "The answer was very easy, and he had heard it oh so many times…. but at this time, he needed reassurance that he had contributed all that he possibly could in his short and beautiful existence and that he could now finally move on." Calling his son "my Superhero," Robert said, "Frederik fought his disease valiantly until the very end. His indomitable lust for life propelled him through the hardest of physical and mental challenges. Our cheery Frederik saw the beauty in everything." Frederik died on March 1, in Paris, France. A fan page for the Luxembourg royal family also shared the news of his death and part of Robert's tribute on social media. View the to see embedded media. The blog post shared details about Frederik's illness, noting that he lived his whole life with the disease despite the late diagnosis. According to the organization's website, PolG mitochondrial disease is "a genetic disorder that robs the body's cells of energy, in turn causing progressive multiple organ dysfunction and failure." Currently, the condition is "very difficult to diagnose and has no treatments much less a cure." The POLG Foundation is working to find therapies, treatments, and hopefully a cure to help those suffering from the disease. Next:
South China Morning Post
10-03-2025
- Health
- South China Morning Post
Who are Princess Charlotte and Prince Alexandre of Nassau, who just lost their brother Frederik? The Luxembourg royals are mourning the death of their sibling, and will carry on his NGO work
Prince Frederik of Luxembourg, the youngest son of the Prince and Princess of Nassau, has died after a long battle with POLG mitochondrial disease, a rare genetic disorder. The 22-year-old's death was announced by his family on March 7 on the POLG Foundation website, started by Frederik in 2022. 'It is with a very heavy heart that my wife and I would like to inform you of the passing of our son, The POLG Foundation founder and creative director, Frederik,' his father, Prince Robert of Luxembourg, wrote. Advertisement His family said Prince Frederik 'fought his disease valiantly until the very end'. Photo: @polgfoundation/Instagram 'Last Friday, February 28, on 'Rare Disease Day', our beloved son called us in to his room to speak to him for one last time. Frederik found the strength and the courage to say goodbye to each of us in turn – his brother, Alexandre; his sister, Charlotte; me,' the bereaved father continued. 'He had already spoken all that was in his heart to his extraordinary mother, who had not left his side in 15 years.' According to the foundation's website, POLG mitochondrial disease 'is a genetic mitochondrial disorder that robs the body's cells of energy, in turn causing progressive multiple organ dysfunction and failure'. 'Frederik's last question to me, before his other remarks, was: 'Papa, are you proud of me?' He had barely been able to speak for several days,' the heartfelt statement continued. The late Prince Frederik (left) and his siblings, Princess Charlotte and Prince Alexandre. Photo: @polgfoundation/Instagram 'As his siblings and most anyone who ever met him say, 'Frederik is the strongest person that we know!' Frederik fought his disease valiantly until the very end.' Here's everything to know about the late prince's older siblings, Princess Charlotte and Prince Alexandre. Who is Princess Charlotte of Nassau?
Yahoo
10-03-2025
- Entertainment
- Yahoo
Prince Frederik of Luxembourg's Dad Details His Final Moments
Originally appeared on E! Online Prince Frederik went into his final moments with intention. After the 22-year-old prince of Luxembourg tragically died March 1 following a battle with PolG mitochondrial disease, a rare genetic disorder, his father Prince Robert—who shares Frederik, as well as kids Princess Charlotte, 29, and Prince Alexandre, 27, with wife Princess Julie—detailed his last hours. 'Last Friday, February 28th, on 'Rare Disease Day,' our beloved son called us into his room to speak to him for one last time,' Prince Robert wrote in a lengthy statement shared to the POLG Foundation website. 'Frederik found the strength and the courage to say goodbye to each of us in turn.' Following the prince sharing a goodbye to his direct family, as well as his cousins, the 56-year-old added that his son left the world by sharing one last joke. 'After gifting each of us with our farewells—some kind, some wise, some instructive—in true Frederik fashion, he left us collectively with a final long-standing family joke,' the prince, who is cousin to Grand Duke Henri of Luxembourg, continued. 'Even in his last moments, his humour, and his boundless compassion, compelled him to leave us with one last laugh—to cheer us all up.' More from E! Online It Ends With Us' Brandon Sklenar Addresses Reason Behind Wearing Same Pin as Justin Baldoni Luxembourg's Prince Frederik Dead at 22 After Battling Rare Genetic Disease Odell Beckham Jr. Responds to Rape Allegations After Being Named in Sean 'Diddy' Combs Lawsuit The Luxembourg royal also gave a bit of insight into his own final conversation with his son, adding, 'Frederik's last question to me, prior to his other remarks was: 'Papa, are you proud of me?'' And the prince emphasized just how proud he indeed was of his son prior to his passing. 'The answer was very easy, and he had heard it oh so many times but at this time, he needed reassurance that he had contributed all that he possibly could in his short and beautiful existence and that he could now finally move on,' Robert explained. 'Frederik knows that he is my Superhero, as he is to all of our family, and to so very many good friends and now in great part thanks to his POLG Foundation, to so very many people the world over.' Frederik had been diagnosed with POlG disease when he was 14, and his father described him as 'headstrong,' 'cheery,' and possessing an 'indomitable lust for life,' that helped him fight until the end. Prince Robert included a piece of advice that Frederik had written to himself in his phone, noting that it was one his entire family would begin to heed to keep his spirit alive, which read, 'Go outside when the sun is shining.' Keep reading for more royal news from around the world… Luxembourg's Prince Fredrik Dies at 22Prince Harry Reaches Settlement in U.K. Tabloids LawsuitKate Middleton Is in Remission After Finishing Chemotherapy for CancerMeghan Markle's Longtime Dog Guy DiesPrince William Mourns Death of Former Nanny's StepsonMeghan Markle Rejoins Instagram to Reveal New Netflix Show For the latest breaking news updates, click here to download the E! News App
Yahoo
10-03-2025
- Health
- Yahoo
Luxembourg's Prince Frederik dead from genetic disease at 22
(NewsNation) — Prince Frederik of Luxembourg has died at 22 from POLG mitochondrial disease, a genetic disorder he has had since birth. The family announced his death one day after Rare Disease Day, which is the last day of February. His father, Prince Robert of Luxembourg, posted a statement to the POLG Foundation website, which Prince Frederik founded in 2021 to raise awareness about the rare condition. Odell Beckham Jr. and Druski accused in assault with Diddy Prince Frederik was able to say his last goodbyes to his family, including his parents, siblings and cousins, after being able to barely speak for several days. 'He has social skills like no other, an amazing sense of humour, an emotional intelligence and compassion that were off the charts, a sense of justice, fairness and decency that knows no bounds,' Prince Robert said in the statement. Although Prince Frederik was born with POLG mitochondrial disease, he was not diagnosed until he was 14, when the illness progressed. The rare disorder affects multiple organ systems and is the most common inherited mitochondrial disease. It is named for the POLG gene, and there are more than 200 POLG mutations that can cause the disease. Vitamin A won't have 'any impact' on US measles outbreak: Doctor The POLG Foundation described the disorder as robbing cells of energy and comparing it to a battery that never fully charges, is constantly being depleted and eventually loses power. There is no cure for POLG diseases, though patients can be given treatment to help manage the symptoms. Up to 2% of people with Northern European heritage may carry POLG mutations. Copyright 2025 Nexstar Media, Inc. All rights reserved. This material may not be published, broadcast, rewritten, or redistributed.
