Latest news with #rarecondition
CBS News
5 days ago
- Health
- CBS News
North Texas girl find happiness in art despite living with rare skin condition
Art has become an escape for a young North Texas girl living with a rare skin condition known as "butterfly skin," where even the lightest touch can cause pain. Through painting, 17-year-old Brianna Ibarra says she's found happiness, and now, her creativity is helping raise thousands of dollars for a special program at Cook Children's Hospital. "I have Epidermolysis Bullosa. It's a rare skin condition, with any friction my skin blisters up easily or tears," said Ibarra. Doctors say the rare genetic condition affects one in every 50,000 children. Two of her other siblings were also born with it. "It was difficult because we didn't know anything about the condition, and through the years we've been learning a little bit more about it, and it's been a little bit easier with the other kids," said Brianna's mom, Leslie Rojas. Unfortunately, there is no cure, and it's a condition that requires a lot of patience. "Day to day, it's lots of wound wrapping. A couple of hours it depends on what part of my body we are treating," said Ibarra. Brianna says when she's painting, she forgets about the stress. "It's been a blessing to see, she found something to express herself as she's very limited to things outdoors, especially. She's very sensitive to the sun," said Rojas. Brianna's passion for art has brought her amazing opportunities. Twisted X, a shoe brand out of Decatur, partnered with the hospital and selected Brianna to design a shoe. Right off the bat, the teen says she began to sketch out her ideas. "The butterflies are the diagnosis, the cactus is the pain, itchiness I get from it, the flowers are inner beauty, and the background color is my favorite color… My favorite element is the back. My name and a big flower on it," said Ibarra. The shoes are currently sold inside the hospital's gift shop and are available at several retailers across the country.
BBC News
12-07-2025
- Health
- BBC News
Essex teen who cannot eat or drink wants to make the most of life
A teenager who has never been able to eat or drink due to a rare condition said she was determined to make the most of life, despite her health from Stanford-le-Hope in Essex, had her bowel removed as a child and is fed via a tube to a major artery near her 14-year-old was also recently diagnosed with osteoporosis, a condition that weakens bones, and now uses a wheelchair."I just try and have a positive attitude," she said. "Sometimes it gets me down when I'm in pain, but most of the time I try not to let it bother me." Isla's condition is so rare that it does not have a name. She has infusions into her bloodstream for 18 hours a teenager also has issues with her immune system, liver and kidneys and has contracted sepsis several was attending high school until last year when she got sepsis and has not yet been able to return. "It hasn't been easy. I was doing so well at school, but the sepsis was a major setback, and I haven't been well enough to go back," she said. Isla loves going to music concerts and is looking forward to learning to drive when she turns 16.A recent Tate McRae concert was one of the best nights of her life, she said, even though she ended up crying herself to sleep with back also managed to go on a cruise with her family this year, after a battle to get insurance, but was in excruciating pain with her back throughout it. Her mother, Ashlee, gave up her job as a support worker for adults with learning difficulties when Isla was a baby, so she could care for friend recently created a GoFundMe page, which has seen donations of more than £3,000 towards a specialist wheelchair, instead of her current basic NHS said she was "so grateful" and "overwhelmed" by the said: "I would love Isla to get a bespoke wheelchair, which could mean she can just feel like a normal teenage girl for a bit and give her some independence."Isla doesn't realise how amazing she is. She is exceptionally brave and resilient."I look at her and I just beam with pride. I don't know how someone can go through so much and be so caring and kind and happy." Follow Essex news on BBC Sounds, Facebook, Instagram and X.
The Sun
27-06-2025
- Health
- The Sun
My daughter's ‘sunburn' was actually a sign her ‘blood was on fire' – her horrific cries constantly replay in my head
AS Natassja Chadwick watched her daughter claw at her rapidly reddening skin after being in the sun, she "knew something terrible was happening". Madison, then a toddler, "let out a horrific cry" that replayed over and over in the mum's head. 14 14 14 14 When Natassja first noticed Madison go red after a day out, she thought it was just a normal sunburn. But the little girl was soon clawing at her own skin as the colour intensified. The 37-year-old mum rushed her to the doctor, where she was told that the toddler has a rare condition that boils her blood after sun exposure - it has no cure. Natassja said: 'I heard Madison let out a horrific cry after getting burnt by the sun in the garden – this sound replayed in my head over and over for a year. 'I asked her what was wrong, as I couldn't see anything. 'She told me her skin was so itchy that it hurt. 'As her body got progressively more red and she continuously cried out in pain, I knew something terrible was happening. 'When I took Madison to the doctors that first time, they told me that, essentially, her blood was on fire. 'I was horrified at what my little girl had been experiencing. 'As it's so rare, there's no cure." The condition is officially known as erythropoietic protoporphyria. It affects one in every 140,000 people in the UK, according to Oxford Academic, with only 394 known with the condition. It's caused by a genetic mutation in the blood, which makes those affected allergic to sunlight. A year later, it was discovered that Madison's brother, Isaac, also suffers from the same condition. 14 14 14 Natassja and husband David, 42, make sure their kids – who are now aged 13 and 11 – and slather exposed skin with expensive, specialised sun cream whenever they go outside. Both Madison and Isaac have never gone on abroad, as their parents want to avoid the hot weather and piercing sunshine of popular holiday destinations. But with the UK's temperatures rising, they are now worried for the future of their kids. Even playing in their own garden can be dangerous for Madison and Isaac. 'If Isaac had it his way, he would be outside from early morning until the last thing at night – but their condition makes this impossible," Natassja, a carer from the Isle of Man, said. 'Madison has so many friends and wants to hang out with them, but realistically, she can't always join in." Natassja said summers can be especially tricky to manage. 'I struggle in the summer, trying to get the balance right with them, but also battling my own desire to get out in the sun," she said. 'It's extremely stressful, timing taking them to events, so we can do everything quickly and leave to get them home safe in the dark. Rising temperatures over the weekend are adding to the mum's worries. 'I worry [about] the heatwave, as Isaac suffers with heat exhaustion. 'He tries to be an active young boy, taking part in football and sports with his friends, but due to being fully covered, he overheats and gets very sick. 'I wouldn't consider moving anywhere else, though. There aren't many places that would be better. What is erythropoietic protoporphyria? The word 'erythropoietic' is associated with red blood cells ('erythro-') and their formation ('-poietic'). Porphyrias are a group of rare disorders caused by something going wrong with the production of chemicals known as porphyrins. In the case of erythropoietic protoporphyria, there is a build-up of one of these porphyrins - protoporphyrin IX - in the blood, especially in the red blood cells. This leads to a sensitivity to sunlight. As blood passes through the superficial blood vessels under the skin, the protoporphyrin absorbs the energy from sunlight and this sets off a chemical reaction that can slightly damage surrounding tissues. The nerve endings in the skin interpret this as itching or burning pain, and if the blood vessels are affected, they can leak fluid, causing swelling. Skin exposure to sunlight causes tingling or itching within a few minutes, severe pain and burning then occur, which may be associated with redness and swelling. These symptoms can take several days to resolve. During this time, the skin may feel extremely sensitive to temperature, light and touch. The light producing these changes need not be direct – light reflected off water and sand, or passing through window glass, including car windscreens, can also cause the symptoms. The condition tends to become apparent in childhood. Source: British Association of Dermatologists 'We will spend the weekend indoors, with the curtains closed, windows open and lots of fans on. 'It's hard to entertain the kids inside, but we will play games, watch films and do some baking before going outside when it's dark to burn off some energy. 'We are lucky that we have lots of friends and family who will also visit us and spend time indoors with us which massively helps. 'I feel mum guilt when I want to sit out in the garden or when I think about having holidays abroad – but my kids' health is worth any sacrifice. 'But I hate being sat at home while the sun is shining with our curtains closed. 'The kids miss out on so many play dates with their friends. 'I worry they'll lose their social skills and become shells of themselves.' 14 14 After the kids' diagnoses, Natassja did her own research, finding a charity that helped put the family with other children erythropoietic protoporphyria. 'Knowing there's others like them out there was such a relief. 'It's helped them, and me, feel less alone in this battle.' Medications are being tested to help with the condition but at the time of writing, there is no cure. Natassja added: 'I want to raise awareness to help progress research into this disease. I've raised money and continue to spread the word. She said of Madison and Isaac: 'They're happy, fun and resilient children. 'I know they'll remain strong no matter what." The mum passed advise to other parents ahead of the June heatwave. 'I strongly urge parents to regularly apply and top up factor 50 sun cream, seek shade and ensure children are consuming plenty of liquids during the heatwave." 14
Fox News
24-06-2025
- Health
- Fox News
Teen with unnamed condition can't eat any food, baffling doctors worldwide
A teenager who is unable to eat any food at all has a condition so rare that doctors said they haven't found anyone else with the same ailment. Finley Ranson, age 14, was born with an extreme response to all food, with his body reacting as if it was a virus and causing him to bleed internally. "I've got a rare condition where I can't have fat into my stomach," the boy told news agency SWNS. "It is impacting my life, as I've not been able to eat any food or drink other than water." (See the video at the top of this article.) The boy's digestive system cannot tolerate lipids, which are fatty compounds or oils that are found in foods. When Ranson, who is from England, was 4 years old, he was taken to a London hospital, "where a central line fed nutrients and minerals into his heart," his mother said. "It was a game-changer. He was happy, bouncing and starting to put on weight." Finley now regularly receives the lipid infusions via a tube, which enters his chest and goes to the central vein in his heart. He receives carbohydrates, proteins, vitamins and minerals three times a day into his stomach via a different tube. He started undergoing the six-hour process every week when he was 4 years old. For the past five years, it has been twice a week. "We have to bypass the gastrointestinal tract completely," Dr. Manas Datta, a pediatrician who has treated Finley since birth, told the BBC. Doctors tried introducing separate ingredients from the tube into the boy's stomach, but "as soon as they put the lipid in, we took 10 steps back," the boy's mother, Rhys Ranson, told SWNS. Ranson's condition is so rare that it doesn't even have a name, although he has dubbed it "Finley-itis." His condition has baffled medical professionals, who believe he may be one of the only people whose body reacts to lipids in this way. "That's the unfortunate thing that we bump up against in medicine with rare diseases that confound doctors," Dr. Neeta Ogden, an allergist and immunologist in Edison, New Jersey, who is not involved in Ranson's care, told Fox News Digital. For more Lifestyle articles, visit Dr. Stephen Tilles, an allergy and immunology specialist in Seattle, told Fox News Digital that Ranson's condition is not the sort of thing typically associated with a food allergy. "Obviously, it's an adverse reaction to the lipid component of food, but that's not on the list of things that allergists will encounter in their practices," said Tilles, who is also unaffiliated with Ranson's care. Doctors originally believed Ranson might be allergic to breast milk, but after being fed hypoallergenic milk through a tube, he still failed to thrive, his mother reported. "His stools were all blood and mucus, and he wouldn't put on weight" when he was a baby, Rhys Ranson told SWNS. "We have to bypass the gastrointestinal tract completely." She is now being trained to perform the lipid infusions at home, which she hopes will improve her son's quality of life. "We're unsure what the future looks like," she said. "We hope there's a day that comes [when] he can have a normal diet … but if not, as long as Finley's happy and healthy and thriving the way he is, we're happy to continue what life is like for us at the moment."
Free Malaysia Today
24-06-2025
- Health
- Free Malaysia Today
Don't sweat it? HED patient Syafiq Zulkarnain literally can't
Mohamed Syafiq Zulkarnain lives with the rare genetic disorder HED, which causes him to be unable to sweat. (Bernama pic) KUALA LUMPUR : Born with the rare genetic condition hypohidrotic ectodermal dysplasia (HED), Mohamad Syafiq Zulkarnain has grown accustomed to curious stares. Having come to terms with his distinctive appearance – marked by sparse hair and widely spaced, pointed teeth – what troubles him more is the relentless heat he must endure every day. 'HED prevents my body from producing sweat, which exposes me to the risk of heat stroke. So I frequently have to wet my body and avoid staying out in the sun for too long,' the 35-year-old told Bernama. HED is a genetic disorder that affects the development of ectodermal tissues such as skin, hair, teeth and sweat glands. It is classified as a rare disease that affects 3.5%-5.9% of the global population. Patients in Malaysia face even greater challenges due to a lack of healthcare professionals who specialise in this incurable condition. This has led to delayed diagnoses, which in turn increases life-threatening risks. A deadly condition Syafiq, who hails from Seri Manjung in Perak, said he was fortunate that his mother, who worked in healthcare, noticed something amiss when he was a baby. 'She and my grandmother noticed I was always fussy in hot weather, crying every night, and was only calm when I slept shirtless under a fan. They also observed that I would tire easily in the heat, did not sweat, and still had no teeth by age two. 'That was when they began seeking a diagnosis for my condition,' he said, adding that his first tooth only appeared when he was 2.5 years old, instead of at six months. This early diagnosis allowed his family to take preventive steps, especially during hot weather – measures that ultimately saved his life. He shared that he'd once lost a friend, who'd also had HED, to heat stroke during a hike. 'Like me, he couldn't sweat, and his body temperature spiked suddenly,' Syafiq said, adding that the incident has made him extra cautious. This is why he doesn't mind the odd looks he gets when he sprays himself with water, even in public. 'I always carry a wet towel and a spray bottle wherever I go. The water acts as artificial sweat to help me cool down,' he added. This inability to perspire also makes his skin prone to severe dryness and eczema, requiring him to routinely apply moisturising lotion and steroid cream. In addition, he has to be careful about what he eats due to his dental condition. 'I can't eat hard foods like nuts or chewy foods. Sometimes my speech is unclear. Many patients need special dentures or implants to overcome this limitation.' Staying cool in the face of stigma Syafiq shared that during his schooldays, he couldn't participate in sports and was given 'special treatment', such as being seated in a classroom near the toilets so he could wet his body more easily. 'I rarely joined outdoor or sports activities that lasted long in the sun. Classmates would sometimes think I was the teacher's pet,' he recalled. The stigma has followed him into adulthood: even with a master's degree in information management, finding a job has been difficult. 'I was unemployed for a long time because it was difficult to find a job suited to my condition. I often failed interviews as employers struggled to understand my speech, and when I explained HED, they assumed I wasn't strong or productive enough. 'In fact, I was once told that my life wasn't 'interesting enough' to be featured in the media because I didn't 'look bad enough',' said Syafiq, who is now a freelancer and also serves as a coordinator for the HED support group under the Malaysian Rare Disorders Society. Dr Tae Sok Kun says many general practitioners don't know where to refer cases like HED, highlighting the need for early exposure to rare diseases during medical training. (Bernama pic) Meanwhile, clinical geneticist and paediatric consultant Dr Tae Sok Kun said one of the biggest challenges for patients with rare genetic diseases like HED is getting an early and accurate diagnosis. 'I see this delay as a 'diagnostic odyssey' – a long and exhausting journey emotionally, mentally and financially. Unfortunately, many parents don't realise that symptoms like delayed tooth growth or lack of hair are important signs.' She pointed out that Malaysia also lacks specialists – there are only about 15 clinical geneticists nationwide – and the referral system is still unstructured. 'Many general practitioners don't know where to refer cases like HED, which shows an urgent need to strengthen the referral structure and provide early exposure to rare diseases during medical training,' she said. While there is no cure for HED, early interventions and symptomatic treatment can help improve patients' quality of life. Managing body temperature is critical since patients are prone to hyperthermia, while skin treatment, eye-dryness management, nutrition, and activity monitoring are also recommended. Tae also emphasised the importance of genetic counselling for at-risk families, which not only helps couples understand their risks and options, but also provides critical emotional support in facing genetic challenges. With this approach, it is hoped that new cases of rare diseases can be reduced, while improving the quality of life for patients and their families in the long term.
