Latest news with #geneticdisorder
SBS Australia
4 days ago
- Business
- SBS Australia
Lexi's genetic condition keeps her obese. But her family can't afford life-changing medication
Lexi's genetic disorder, which keeps her constantly hungry, has rendered her bariatric surgery ineffective. So she's hoping weight-loss drugs could help her. Source: SBS / Colin Cosier for Dateline Watch Dateline's documentary 'Born Big' on 3 June at 9.30pm on SBS or SBS On Demand. By her 12th birthday, Lexi weighed 116kg — almost three times the average weight of an American girl her age. By the time she turned 13, she had 80 per cent of her stomach removed through bariatric surgery. She initially lost 29kg . But nine months after the operation, she regained some weight, and her intense hunger returned. Lexi has MC4R gene deficiency. It disrupts the brain's ability to regulate appetite, resulting in weight gain and a constant feeling of insatiable hunger. Nearly three years after her surgery, Lexi, now 15, is exploring alternative options. "I'd like to be a size where I can go out and play sports again, like I used to when I was younger," she says. She was recently prescribed Wegovy, a weight-loss medication approved by the US Food and Drug Administration (FDA) for treatment of obesity in people aged 12 and older. Wegovy belongs to the new class of injectable medications, originally used for the treatment of Type 2 diabetes but now FDA-approved for long-term weight management. These drugs — primarily semaglutide (Wegovy and Ozempic) and tirzepatide (marketed under the brand names Mounjaro and Zepbound) — mimic GLP-1 hormones that regulate blood sugar and appetite, helping patients feel fuller for longer. They have been popularised by celebrities and on social media. According to a 2024 study published in the Journal of the American Medical Association , prescriptions of these drugs for teens and young adults in the United States increased by 600 per cent between 2020 and 2023 — with the overwhelming majority being teenage girls. One in five children and adolescents in the US are affected by obesity. In January 2023, the American Academy of Pediatrics (AAP), the largest professional association of paediatricians in the US, updated its guidelines for treating children with obesity — for the first time in 15 years. It now recommends early medical interventions such as surgery and weight-loss drugs, in addition to lifestyle and behaviour changes. Dr Fatima Cody Stanford, an obesity medicine physician and an associate professor at Harvard Medical School, says there's been "a noticeable shift in recent years in how obesity and obesity medications are discussed within the paediatric and broader medical fields". "There is growing recognition of obesity as a complex, chronic disease rather than a simple consequence of lifestyle choices," she says. "The increasing visibility and acceptance of pharmacological treatments as legitimate components of obesity management reflect this change, although stigma still exists and must be continually addressed." However, she says irreversible treatment such as bariatric surgery and indefinite use of medication at age 12 "must be approached with caution". It's important to balance the potential benefits of anti-obesity drugs against the unknown long-term effects, she says. "I advise families to consider the improvement in quality of life and reduction in obesity-related health risks as significant benefits," she says. "However, the psychological and emotional aspects, such as body image, potential dependence on medication, and identity formation, should be openly discussed." Lexi's mum Brandy was initially against injectable GLP-1 drugs. "I wanted her to be a little older," she says. Now, looking back, she says she would have started with medication rather than surgery for Lexi. "Surgery is final ... there's no reversing it," she says, adding that she believes bariatric surgery remains an essential option if other treatments fall short. Bariatric surgery usually leads to substantial weight loss, but Lexi's MC4R deficiency made her procedure far less effective. "The conversation is changing," Brandy says. "I remember the first weight loss hospital we went to, they literally just gave us a portion plate and sent us home." Now, "the availability and the options for people, it's great, [and] it needs to keep going." In April, Lexi was prescribed Wegovy. But the family has been locked in a battle with their insurance provider to secure even partial coverage for the medication's cost. Despite more weight-loss drugs hitting the market, many people in the US still can't afford them. A month's supply of Wegovy, for example, can cost approximately US$1,350 ($2,100) — that's over US$16,000 ($25,000) each year. Medicare, the federal health insurance, is prohibited from covering weight-loss drugs by law. Most private health plans don't cover them either, primarily, due to their high cost. Bariatric surgery, on the other hand, is covered by insurance companies. In April, the Trump administration rejected a Biden-era proposal to expand Medicare coverage of anti-obesity drugs such as Wegovy. However, GLP-1 drugs have become a target of a new executive order, signed by US President Donald Trump in May, aimed at lowering prescription drug prices, which are notoriously high in the US compared to other developed nations. In the meantime, Lexi has seen some progress with an oral appetite suppressant, Qsymia, to help regulate her hunger. She's lost weight and had her obesity reduced from class 3 to class 2. But the journey has been mentally draining, she says. "You just feel kind of defeated because , you're like, ' what am I supposed to do when my options run out?" Watch now
Yahoo
27-05-2025
- Health
- Yahoo
'Only 60 people in the UK have our daughter's genetic condition'
The family of a three-year-old girl with one of the UK's rarest genetic conditions are faced with the prospect of relocating to another city in order to get treatment for her. Autumn, who lives near York, has Hyper-IgE syndrome, which affects her immune system and requires daily antibiotics. The toddler must spend six months at the Great North Children's Hospital in Newcastle from October, to receive a bone marrow transplant. She has been told that Father Christmas will deliver her presents in hospital, but knows that after the operation, she will no longer have to take daily medication. Doctors first noticed something was wrong when Autumn was born, as she had raised levels of white blood cells, indicating an infection. However, no infection could be found, and over the next 18 months, the family were "in and out of hospital with various different things", her father Matt says. It was only during a visit to Harrogate District Hospital when a consultant, Dr Alexandra Hardisty, mentioned she had previously seen a case of Hyperimmunoglobulin E (Hyper-IgE) syndrome. "It's needle in a haystack stuff - only 60 people in the UK have been diagnosed with this," Matt adds. Genetic testing confirmed the suspicions, but also found neither of Autumn's parents carried the gene. "It's a genetic mutation," her mother, Louise, explains. "It's like a spelling mistake in her genes and it just means that her immune system – although it produces white blood cells so they can go fight the infection - they don't actually know where they're going. "So they just run around her body and they might stumble upon it, but she needs extra help to get rid of infections." According to the charity Immunodeficiency UK, common features are "severe eczema, increased susceptibility to infections and markedly raised levels of immunoglobulin E (IgE)". Autumn's treatment will involve eight days of chemotherapy to destroy existing cells, before they are replaced through a bone marrow transplant from a donor in Germany. After the eight days she will have "no immune system whatsoever", Matt says, meaning there are strict rules to control any infection risk. Autumn will spend three months in an isolation room with a carefully-controlled oxygen level, with only one of her parents allowed to sleep there at a time. Every time they enter, they will need to scrub down and discard any outdoor coats or clothes. Autumn's pyjamas and teddy, Mrs Pink Bunny, will have to be washed every morning, she will use a new toothbrush every day, and can only eat food provided by the hospital. "There's a period of time when there's a line in the room and she's not even allowed over the line in the room," Matt adds. "The hospital say that they expect her to be a bit more resilient than we would even be, because of her age." Meanwhile, they will "press pause" on family life, Louise says, as she prepares to temporarily close her yoga and personal training business. The hospital provides accommodation for whichever parent is not sleeping on the ward, but she says they will be "very much passing ships". The family has already visited the team of medics in Newcastle and "completed the hospital", Matt says. After visits to "dentistry, CT scans, X rays, the play team, consultants, research teams, professors", he says all three family members had a blood test. Autumn says she went first to show her parents how "easy" it was: "I got a sticker - I was very brave." Louise says: "You think, 'how are we going to do this?', but you just do, because it's going to prolong her life and she'll come out of this process with a completely new immune system." Matt adds: "We had moments when we're like: 'Remember when you were a kid and you'd see those families on GMTV with poorly children trying to go to Disney?' We're now that family. That's now us." They have received support from a charity, helping families of children receiving stem cell transplants at the hospital in Newcastle. The Bubble Foundation funds research and toys for the ward, as well as providing advice and reducing the financial burden for families. "You want to be able to concentrate on the matter in hand," Matt says. While he is able to continue working remotely during the move, he knows some others "lose their jobs because companies can't afford to keep paying them, so the Bubble Foundation help with a lot of that". Before the treatment takes place in October, Louise and Matt are completing a number of fundraising challenges, including a fell run and triathlon event. They are also inviting others to take part in charity days at two gyms, in York and Boroughbridge. "The objective is to raise awareness and the driver is a bit of a coping mechanism and distraction," Matt says. Louise jokes: "I think going into hospital in Newcastle for six months is a challenge enough, but I got signed up for it, so let's do it!" Listen to highlights from North Yorkshire on BBC Sounds, catch up with the latest episode of Look North. Boy, 5, saved by stem cell transplant Woman appeals for stem cell donor to save her life 'It was so easy to give people more years of life' Immunodeficiency UK The Bubble Foundation
BBC News
27-05-2025
- Health
- BBC News
York girl has 'one in a million' genetic condition
The family of a three-year-old girl with one of the UK's rarest genetic conditions are faced with the prospect of relocating to another city in order to get treatment for her. Autumn, who lives near York, has Hyper-IgE syndrome, which affects her immune system and requires daily toddler must spend six months at the Great North Children's Hospital in Newcastle from October, to receive a bone marrow has been told that Father Christmas will deliver her presents in hospital, but knows that after the operation, she will no longer have to take daily medication. Doctors first noticed something was wrong when Autumn was born, as she had raised levels of white blood cells, indicating an no infection could be found, and over the next 18 months, the family were "in and out of hospital with various different things", her father Matt was only during a visit to Harrogate District Hospital when a consultant, Dr Alexandra Hardisty, mentioned she had previously seen a case of Hyperimmunoglobulin E (Hyper-IgE) syndrome."It's needle in a haystack stuff - only 60 people in the UK have been diagnosed with this," Matt adds. Genetic testing confirmed the suspicions, but also found neither of Autumn's parents carried the gene."It's a genetic mutation," her mother, Louise, explains."It's like a spelling mistake in her genes and it just means that her immune system – although it produces white blood cells so they can go fight the infection - they don't actually know where they're going."So they just run around her body and they might stumble upon it, but she needs extra help to get rid of infections."According to the charity Immunodeficiency UK, common features are "severe eczema, increased susceptibility to infections and markedly raised levels of immunoglobulin E (IgE)". Isolation period Autumn's treatment will involve eight days of chemotherapy to destroy existing cells, before they are replaced through a bone marrow transplant from a donor in the eight days she will have "no immune system whatsoever", Matt says, meaning there are strict rules to control any infection will spend three months in an isolation room with a carefully-controlled oxygen level, with only one of her parents allowed to sleep there at a time they enter, they will need to scrub down and discard any outdoor coats or pyjamas and teddy, Mrs Pink Bunny, will have to be washed every morning, she will use a new toothbrush every day, and can only eat food provided by the hospital. "There's a period of time when there's a line in the room and she's not even allowed over the line in the room," Matt adds."The hospital say that they expect her to be a bit more resilient than we would even be, because of her age."Meanwhile, they will "press pause" on family life, Louise says, as she prepares to temporarily close her yoga and personal training hospital provides accommodation for whichever parent is not sleeping on the ward, but she says they will be "very much passing ships". The family has already visited the team of medics in Newcastle and "completed the hospital", Matt visits to "dentistry, CT scans, X rays, the play team, consultants, research teams, professors", he says all three family members had a blood says she went first to show her parents how "easy" it was: "I got a sticker - I was very brave."Louise says: "You think, 'how are we going to do this?', but you just do, because it's going to prolong her life and she'll come out of this process with a completely new immune system." Matt adds: "We had moments when we're like: 'Remember when you were a kid and you'd see those families on GMTV with poorly children trying to go to Disney?' We're now that family. That's now us." They have received support from a charity, helping families of children receiving stem cell transplants at the hospital in Bubble Foundation funds research and toys for the ward, as well as providing advice and reducing the financial burden for families."You want to be able to concentrate on the matter in hand," Matt he is able to continue working remotely during the move, he knows some others "lose their jobs because companies can't afford to keep paying them, so the Bubble Foundation help with a lot of that".Before the treatment takes place in October, Louise and Matt are completing a number of fundraising challenges, including a fell run and triathlon are also inviting others to take part in charity days at two gyms, in York and Boroughbridge."The objective is to raise awareness and the driver is a bit of a coping mechanism and distraction," Matt jokes: "I think going into hospital in Newcastle for six months is a challenge enough, but I got signed up for it, so let's do it!" Listen to highlights from North Yorkshire on BBC Sounds, catch up with the latest episode of Look North.
The Guardian
22-05-2025
- Health
- The Guardian
The extraordinary promise of gene editing
Biologist whose innovation saved the life of British teenager wins $3m Breakthrough prize US doctors rewrite DNA of infant with severe genetic disorder in medical first Support the Guardian:
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.
