Latest news with #rarecondition
BBC News
7 days ago
- General
- BBC News
Baby Archie had 'incredibly rare' heart condition, expert says
A medical expert has told an inquest that a baby who died at a Kent hospital had a heart condition so rare that doctors "might see one in their working lives".Archie Squire died from heart failure in the early hours of 23 November 2023 after repeated visits to the Queen Elizabeth the Queen Mother (QEQM) Hospital in to paediatric cardiac surgeon Prof David Anderson, Archie had an "exceedingly rare" condition known as "congenitally corrected transposition of the great arteries".Most GPs "would never see a case" while hospital doctors "might see one in their working lives", he told the inquest. 'One in 35,000' Prof Anderson said the "great majority of children with the condition would have additional defects of the heart", but that Archie did likelihood of a child having this type of congenital heart condition was "one in 35,000", he was reviewed in the A&E and Urgent Care Centre at QEQM Hospital more than 10 times over the year of his life with symptoms including constipation, breathlessness and failure to Emma Price, a consultant paediatrician with the East Kent Hospitals University NHS Foundation Trust (EKHUFT), previously told the inquest that Archie did not have "any signs of heart disease" when she saw him in October 2023. A serious incident investigations report conducted by EKHUFT found there were "missed opportunities to diagnose him appropriately".Prof Anderson shared his view that Archie would have been referred to the Evelina London Children's Hospital had he received an echocardiogram - a scan used to look at the heart and nearby blood vessels - upon admission to hospital on 21 inquest, which started at North East Kent Coroner's Court in Maidstone on 19 May, is ongoing.
Yahoo
24-05-2025
- General
- Yahoo
Summer ball to be held for 'amazing' Colchester girl who has rare genetic condition
A MIDSUMMER ball will be held for an incredible seven-year-old girl with a life-limiting condition which only affects one in a million people. Emmie Gizatullin, aged seven, from Colchester, has a rare genetic condition called Kniest Dysplasia. She is the size of a nine-month-old, has a cleft palate and club feet, is non-verbal and wears hearing aids and strong glasses. Mum Hannah said Emmie's condition is 'quite a severe form' and that she cannot have any surgery on the spine. Emmie's family, which also includes dad Marat and brother Adam, have been fundraising to give Emmie the best quality of life possible by making accessibility adaptations to their house. Fundraising - (L to R) Sue Tasker, Adam Musa, Hannah, Emmie and Marat Gizatullin at the 2024 Midsummer Ball (Image: Submitted) The family has held two summer balls at Milsom Hotel and Restaurant's Talbooth in Dedham with last year's event raising £7,380 for Emmie and her family. This, alongside other donations including free labour from Rose Builder's trades people, meant an accessible bathroom could be completed. Hannah said: 'Emmie is going to be eight in July, and she is doing really well. 'By the time you are eight you want to wash your hands at the sink and brush your teeth, everything everyone takes for granted every day. 'It makes a huge difference for us that she can be independent. She is amazing us with how well she is.' Hannah said the family has had to a 'lot of structural change' to their house, with a lift being needed as well as a needed downstairs toilet. She said the family was looking forward to the event. She said: 'Emmie goes to the event and parties all night. 'She loves to sing and she gets very excited about it. We normally would not get to go anything so special, it means a lot to us, and we would not be able to raise the money needed for us by ourselves'. Hannah also made a special mention for Sue Tasker from Milsom who has organised the event since the beginning. She said: 'In a way Sue from Milsom has changed our lives, and I don't know where we would be without Sue. 'She's incredible." There are still tickets available to buy at the Talbooth Marquis at To donate visit
Daily Mail
20-05-2025
- Health
- Daily Mail
Parents hoped baby girl would help them get over loss of their son... until they got heartbreaking news
A Kansas family's dream of healing was shattered just moments after welcoming their baby girl into the world. Fourteen years ago, Christina and Adam Hannan faced every parent's worst nightmare, the loss of their son, Myles. His passing left a hole in their hearts, one they hoped might finally begin to mend five months ago with the birth of their daughter, Annalise. But the moment she was born, their world began to collapse all over again. Annalise wasn't crying. She wasn't moving. Doctors rushed in - and within hours, the Hannans were dealt a second, unimaginable blow. Their newborn was diagnosed with congenital hypomyelinating neuropathy, a nerve disorder so rare that fewer than 50 cases have ever been recorded across the globe. Today, only seven people are known to be living with the 'super rare' condition. The condition, which begins at birth, prevents the body from producing enough myelin - the vital protective sheath that coats nerves. Without it, nerve signals can't travel effectively, resulting in severe muscle weakness and neurological failure. Most babies with the disorder don't live beyond their early years, according to the National Library of Medicine. 'This is Annalise,' her father Adam told Fox4. 'Annalise was born with a super rare genetic disorder.' She doesn't cry. She breathes through a tracheostomy. She feeds through a tube. And every night, she sleeps connected to a ventilator - each day a fragile victory against the odds. But what makes Annalise's diagnosis even more devastating is that her parents have been here before. 'We know one of the 50,' Adam said. 'Because he was our son. We had a son with this same condition.' Their son Myles lived just 20 months. Now, the Hannans are bracing for the same unthinkable journey, with the same merciless disease. And yet, amid the heartbreak, they have chosen to cherish every heartbeat, every moment. 'It's both hard and good at the same time,' Adam Hannan (pictured with baby Annalise) said, 'our mission is to let her know that she is loved - as much and as often as we can' 'It's horrible, but every day is a gift,' Christina said. 'So you wake up, and it's have today.' 'It's both hard and good at the same time,' Adam added. 'Our mission is to let her know that she is loved - as much and as often as we can.' And somehow, in the face of so much sorrow, they continue on. 'We have to - that's the thing,' Adam said. 'You have to put one foot in front of the other. You just have to. There's no choice. So we proceed with joy.'
The National
17-05-2025
- Health
- The National
Rare genetic syndrome discovered in Emirati boy helps identify symptoms across Middle East
An Emirati father's determination to find out what was causing his son's constant illness has led to the discovery of a rare genetic syndrome in the Middle East. Majid Salim Muhammad Saif Al Shamili, from Ras Al Khaimah, said Salem was repeatedly taken to hospital with infections, often choking and experiencing "very slow growth". Other symptoms included delays in neurodevelopment, and abnormalities in the shape of his head and face. It was only after Salem, five, was seen at the Al Jalila Children's Hospital in Dubai that an endocrinology specialist, Dr Nandu Thalange, suspected a genetic change may have been responsible and he instructed a detailed analysis be carried out. Along with his colleagues, Dr Ahmad Abou Tayoun, director of the Dubai Health Genomic Medicine Centre and an associate professor of genetics at Mohammed Bin Rashid University, found the child had a condition caused by a single gene mutation. When Salem was first taken to hospital in 2020, it kick-started a major research project that led to the identification of more than a dozen children from the UAE, and elsewhere in the region, who were also found to have the disease. 'My reaction at the beginning when he was diagnosed was very difficult for us as his parents, and also my son was the first case of this disease [in the region], so this is what worried us,' said Mr Al Shamili. After a study, which took five years to complete, researchers have released their findings to identify and characterise the condition, which has so far been seen only in Arab children but which may also affect people from other parts of the world. "Although we saw the first patient back in 2020, we really didn't confirm the diagnosis until the conclusion of the study and [after] evaluating all of the data," said Dr Tayoun, co-author of the paper published in the American Journal of Human Genetics. Salem had inherited a mutation from each parent, which made him unable to produce a vital protein in his cells, leading to changes that caused his symptoms. "We realised this was the most likely cause of disease and submitted our findings to an online tool where investigators worldwide submit novel genes they identified in undiagnosed patients,' Dr Tayoun said. Based on the symptoms and the gene, the tool matched the Dubai researchers with a geneticist in Saudi Arabia, Dr Bruno Reversade, and researchers in Germany who had analysed DNA samples from Middle Eastern patients. With the study under way, another patient at Al Jalila Children's Hospital was found to have the same genetic variant, known as FBX022. "Other similarly affected patients were also identified in the GCC and Lebanon,' said Dr Tayoun – a total 16 patients who had similar symptoms and shared mutations in the gene were identified. Much of the genetic work was undertaken at the Dubai Health Genomic Medicine Centre, which was previously known as the Genomic Centre of Excellence at Al Jalila Children's Specialty Hospital. 'Doing genomics work locally is crucial for research activities and discoveries like this one,' Dr Tayoun said. He said the work also showed Dubai Health's commitment to 'advancing medical discovery' by involving clinicians, clinical scientists and researchers. 'This work also highlights the importance of regional and international collaborations, given the rarity of monogenic diseases [caused by a mutation to a single gene] and the need to connect similarly affected patients to establish causality,' he said. The analysis indicates that the most common variant of FBX022 identified probably originated in the Middle East, so it is more common in the region than elsewhere. The research identified seven affected Emirati families, all having the most common variant, as did all four families from Oman. Families from Saudi Arabia and Lebanon had different variants. 'All patients so far identified are Arabs but we are sure, now the gene has been discovered, that patients from other populations will be identified, though with different variants,' Dr Tayoun said. It is possible children may have had the condition in the past but the cause of their symptoms went unrecognised, he added. Being a newly identified syndrome, there is not yet any treatment for the condition. The most effective approach, should it be possible, would be a form of therapy in which the deficient form of the gene is replaced with a normal copy. Dr Tayoun said this replacement would need to be done in time to avoid 'irreversible, permanent changes during development'. The Middle East tended to be under-represented in global genomic studies, Dr Tayoun said, resulting in 'missed opportunities' to identify novel genetic conditions specific to the region. While a cure is not possible, Salem, who turns six next month, is showing 'very good' development compared to his first three years, his father said, and medication is controlling symptoms such as spasms. His cognition has improved and is continuing to develop thanks to the treatment. 'Now he is undergoing physical and occupational therapy and, thank God, he has started to develop and acquire skills, such as standing and walking a little,' said Mr Al Shamili.
Yahoo
07-05-2025
- Health
- Yahoo
Teen unable to eat due to rare digestive condition
Like most teenagers his age, Finley is given a cake every year to celebrate his birthday, but he can never eat it - or any other food. If he did, he would bleed internally. The 14-year-old's digestive system cannot tolerate lipids - fatty compounds or oils which are found in foods - so he has them injected directly into his heart. The treatment is a six-hour process which he has undergone every week since he was four years old, and over the past year it has increased to twice a week as he has grown. Finley's case is so rare that doctors have considered presenting it to a medical journal, as they believe he may be one of the only people whose body reacts to lipids in this way. Dr Manas Datta, a consultant paediatrician at Broomfield Hospital in Chelmsford, Essex, who has treated Finley since he was born, said it was "horrific" seeing how Finley's body responded to food. "Even when he was on breast milk, he was reacting," Dr Datta told the BBC. "We had never seen this type of case before - I remember many days where Finley came to the hospital so unwell." Finley has undergone more than 20 operations and visits the hospital regularly for treatment [Family photo] Finley, from Battlesbridge, Essex, underwent more than 20 operations at Great Ormond Street Hospital in London as doctors tried to understand his condition. His mum, Rhys, 37, felt her son had been a "guinea pig" due to "trials and errors", and it had been "a lightbulb moment" when doctors finally worked out how to treat her son. "It's heartbreaking at times - people don't see what Finley goes through day-to-day," she said. "They see the happy, chirpy young man, but psychologically he goes through a lot." Rhys said she does not try to hide the sociable aspect of food from her son. "He's always helped cook, we always go out to restaurants, he's always had a birthday cake," she told the BBC. "He might not be able to eat it, but he's had the same normality in that respect as everybody else." Finley, who is also autistic, said the look and smell of food does not make him hungry or feel like he is missing out. "Having my feed is all I know, so I just see other people eating and it doesn't bother me," he added. Rhys said there is no name for her son's condition so he calls it "Finley-itis" [Steve Hubbard/BBC] Finley receives a lipid infusion via a portacath, or tube, which enters his chest and links directly to the central vein in his heart. "We have to bypass the gastro-intestinal tract completely," Dr Datta said. "Not only the fat, but he even cannot tolerate the normal carbohydrates and proteins as well," he added. Finley receives carbohydrates and proteins - along with vitamins, minerals and electrolytes - three times a day into his stomach via a different tube. "I can't remember when I had [the infusion] first because it's just my life now - I can't really escape it," Finley said. "There isn't a name for what Finley has" said Rhys, adding her son called his condition "Finley-itis". "There's no-one else that we know that has the lipid element infused directly." "We are actually thinking about reporting this case to some sort of journal because it's such a rare condition," Dr Datta said. The hope is that Finley will be able to eventually do infusion treatments at home, instead of travelling to Broomfield Hospital twice a week. "There might be a time that he is able to tolerate fat," Rhys said, "but if not, we just carry on with what our 'normal' is and go from there." Dr Manas Datta has treated Finley since he was a baby and said the 14-year-old was "a very determined chap" [Steve Hubbard/BBC] Finley has plans to abseil down a tower block at Southend Hospital on 16 May to raise money for the Mid and South Essex Hospitals Charity. "The building is 154ft (47m) - it's a bit high, but I feel like I'll be all right," Finley said. "The hospital and all the [staff] have given me care through my life, and I just wanted to give back and raise money for them to help other people." Finley's mum - who completed the same abseil on Finley's behalf a couple of years ago as he was too young - said her son was "remarkable". "He's the most lovable little boy who wants to help other people because of what he's gone through - I'm so proud of him." Follow Essex news on BBC Sounds, Facebook, Instagram and X. More on this story Related internet links
