Latest news with #cysticfibrosis
Daily Mail
3 days ago
- General
- Daily Mail
NRL cheerleader Savannah had a 'normal' life... Until she made a devastating discovery in Dolly magazine
From the outside, Savannah McKell seemed to have a picture-perfect life. But behind closed doors, the former Newcastle Knights cheerleader was secretly battling a life-shortening condition. 'People often looked at my life and saw a fairytale - I was cheerleading, modelling and taking glamorous Instagram pictures... What they didn't see was me coughing up blood between cheering, managing life-threatening lung infections, and silently battling cystic fibrosis,' Savannah told FEMAIL. When she was born, her parents were given the devastating news that she might not live past her teens - and if she did, she would likely only reach her early 20s. Her parents kept her life relatively normal, shifting the focus away from her illness so she could simply enjoy being a kid. From the age of 20, she began experiencing more frequent infections and health complications. But it wasn't until she was 24 that her condition took a terrifying turn - after she suffered an episode of hemoptysis, just hours before her engagement party. 'The day I started coughing up cups full of blood was the scariest day of my life,' Savannah recalled. 'As I was rushed to the emergency room, all I could think was I'm not going to get to say goodbye or 'I love you' to my parents or make it to my wedding and marry my husband... The party was at the back of my mind and I just went into survival mode.' Savannah has been living with the incurable disease since she was six weeks old. Growing up, she remembers having a 'beautiful' childhood, even as she navigated life with cystic fibrosis (CF) - a genetic disorder that causes an abnormal build-up of thick mucus in the lungs, airways and digestive system. 'My family kept my diagnosis very positive and almost pretended it didn't exist to me as I was so young and unable to comprehend,' she said. 'I had an amazing family, and we'd spend as many days as we could by the beach to soak up the salt, which helped my CF. I had a lot of extra hospital visits and treatment I had to do but my mum always tried to make them as enjoyable as possible.' Dolly discovery Savannah was never fazed by her diagnosis - until she came across a confronting detail in the teen magazine Dolly that revealed the soul-crushing reality of her life expectancy. 'It was devastating. I knew I was "more prone to getting a cold, cough and flu" but I didn't know my CF came with a very dire life expectancy,' she recalled. 'Finding out at 12 years old - from reading Dolly magazine - that I was nearly "halfway" through my life had a profound effect on me.' After reading the article, she made the decision to keep her condition a secret. 'I chose to keep my CF private in the early 2000s. With the life expectancy being what it was, I didn't want the stigma of being "the sick girl" or that "she was going to die soon",' she said. 'I wasn't ashamed of having CF but I never wanted it to be the talking point to my friends, peers, classmates and just everyone around me. 'Growing up is hard enough without already being labelled as 'different'. I just wanted to be Savannah, not Savannah who has CF.' Her childhood with CF was so normal that she didn't really worry about her diagnosis until she read something about the life expectancy of someone living with CF in Dolly magazine As a child, Savannah knew she was 'different' because of the number of hospital visits she had compared to her school friends and other kids her age. 'Some of them said they'd never been to hospital before, yet I was going once a month for clinics and yearly needles, and needing antibiotics all the time for a "cold",' she recalled. 'The clinic visits when I was young were very traumatic with tubes being shoved down my throat and multiple blood tests, and antibiotics... no five-year-old should have to endure stuff like that so young.' Defying odds As she got older, the life expectancy for people with cystic fibrosis gradually increased to around 30 years. However, Savannah, now 29, has received promising news after defying all odds - thanks to medical advancements, research and a breakthrough prescription drug called Trikafta. 'Life expectancy has increased drastically and continues to increase every day. While it's in no way a cure, it's a big step for cystic fibrosis sufferers. It's now almost double the life expectancy to 60,' she said. What many people didn't see was that Savannah was struggling behind closed doors -coughing up blood between cheerleading and managing life-threatening lung infections How you can help make a difference May is the month of Cystic Fibrosis Awareness. Savannah is sharing her story in support of CF Together. She is hoping to help raise awareness and funds for Cystic Fibrosis research. You can donate here. 'Trikafta has completely changed my life. I can now go months, if not years between antibiotics, IVs, hospital stays and clinic visits. Something that used to occur monthly. 'I'm not constantly clearing my throat or coughing up thick mucus, I can now take deep breaths and have clear lungs. It also allowed me to fall pregnant naturally which never happened before Trikafta.' Before discovering the life-extending drug, Savannah experienced fertility issues while trying to get pregnant - likely due to her condition. Baby joy She and her husband conceived their first son Elijah via IVF. 'Carrying a pregnancy was the hardest challenge physically, as the strain on my body and health was incredibly hard,' the young mum said. 'The only thing that got me through was the beautiful baby boy I was fighting so hard for.' Three months postpartum, Savannah contracted an infection called B. cepacia, often referred to as a 'death sentence' for people with cystic fibrosis. This scare prompted her to start Trikafta after a year of hesitation. Savannah kept her CF a secret from most people for many years due to stigma and a desire to be seen as 'normal' but she has become more open about her condition - especially after having her son 'The thinning of mucus from Trikafta not only cleared my lungs but cervical mucus too, allowing to conceive naturally, something we had tried for many years with no success without IVF,' she said. Thanks to advocacy by CF Together, she now has access to the life-saving medication - something she attributes to giving her the best years of her adult life. Highs and lows Savannah said her condition is now 'very stable'. 'I live 99 per cent of the time a somewhat normal life minus the pills every day and extra precautionary clinic visits. My new life expectancy is promising and I can look to the future without as much fear,' she said. Despite thriving at 29 with a second baby on the way after conceiving naturally, she still struggles with the 'constant mental noise and fear of decline'. 'While we have advancements and fancy new drugs, it still only takes catching one bad bug to completely bring your whole body and life down, as well as the mental side,' she explained. 'CF means taking pills every day, with every meal, since the day I was born - and that hasn't stopped.' What is cystic fibrosis carrier testing? Cystic fibrosis carrier testing is a genetic test that will help to identify if you have changes to the CF gene. The test involves providing a blood or saliva sample and requires a referral from your GP, obstetrician, geneticist, or gynaecologist. There are around 2,000 gene changes that cause CF, and a typical CF screening will identify the most common CF gene changes in Australia. However, there is still a small risk that you may be a carrier of a rare CF gene change. If you have a family history of CF, it is important to tell your GP, obstetrician or gynaecologist before providing your sample for screening. This will ensure that you are being tested for the most common CF gene changes as well as the specific gene change relevant to your family. Making the decision to know your CF carrier status through genetic testing is a choice only you can make. Knowing whether you are a carrier can help inform you of your reproductive options. You can discuss your CF carrier screening options with your GP, obstetrician or a genetic counsellor. On November 1, 2023, reproductive carrier testing for cystic fibrosis, fragile X syndrome and spinal muscular atrophy was made available for every eligible Australian, thanks to two new Medicare item numbers, allowing people to make more informed choices regarding family planning. The test can be ordered before pregnancy or early in pregnancy. Savannah said she's now enjoying living a 'slow, nature-filled life'. 'I'm raising my family without any fear for the future. Something as small as going for a swim at the beach is such a blessing for me and I want to spend the rest of my life just appreciating every second,' she said. For couples looking to start a family, Savannah urges them to get a genetic blood test before trying to conceive. 'CF is genetic but I advise couples looking to start a family to please do a genetic blood test before falling pregnant. My parents had no idea they were carriers and it's surprisingly more common in Australia than you think to be a carrier,' she said. By sharing her story, Savannah wants every young person living with cystic fibrosis to know that their diagnosis does not define them. 'It should never stop you from chasing the life you dream of. Never listen to any one that doubt you or wrap you in cotton wool because of your disease,' Savannah said. 'I chose to keep my illness private growing up, but I've learned that strength doesn't come from pretending everything's ok... it's from being honest and proving people you can do all of this while fighting something so horrific. 'I share my story now because I wish, as a little girl, I had seen someone like me thriving despite their diagnosis. Appearances don't always reflect reality. 'You truly never know what someone is going through behind the scenes. You should always prioritise your health for those who weren't as blessed.' According to CF Together, nine out of 10 children diagnosed with cystic fibrosis are born into families without any prior history of the condition. In cases where there is no family history, both parents of the child who is born with CF must be carriers of the gene change that causes CF. One in 25 people are estimated to carry the gene changes that can cause CF, and most people are completely unaware they are a carrier. CF carrier screening testing is available to help you and your partner find out whether you are among the one million Australians who carry the CF gene change.
RNZ News
22-05-2025
- Health
- RNZ News
Annual health funding likely to lag behind rising costs
GPs also warn patient fees may need to rise this year to cover costs. Photo: RNZ picture id="4K747KF_HEALTH_WEB_png" crop="16x10" layout="thumbnail"] Wellington toddler Sophie-Grace has cystic fibrosis, which means she is regularly admitted to hospital with lung infections. Her dad Ben Butler-Hogg said the family had been hoping Budget 2025 would include a further cash injection for Pharmac, to allow it to increase access to the drug Trikafta for two to five-year-olds, like her. But it was not to be. "The medication that we get today will remove burden from our infrastructure," Butler-Hogg said. "The sooner we can intervene with our children, the better quality of life they've got. "I want my daughter to get to adulthood without needing a transplant." The drug-buying agency did get a funding boost of $604 million over four years following last year's Budget, but that has been largely already committed. Meanwhile, GPs warn patient fees may need to rise this year to cover costs. Dr Angus Chambers. Photo: Supplied Dr Angus Chambers, from the General Practice Owners Association, said Health NZ had already indicated its annual funding hike for doctors was likely to lag behind rising costs. "Unless there's a surprise in this annual uplift at capitation, we're pretty worried that we will see a substantial upward pressure in patient fees, of that 10 percent mark." Overall, primary and community care had a boost of about $600m, with most initiatives already announced. Most of it was paid for out of the $420m set aside for pay equity claims - wiped out by a sudden law change earlier this month. General Practice New Zealand chief executive Maura Thompson said axing the claim for primary care nurses would make it even tougher to recruit and retain staff. "The celebration of savings comes at the expense of fair pay for women. So the pay equity claim for primary care nurses being terminated is a huge disappointment, and will have a real impact, unfortunately." The Association of Salaried Medical Specialists represents senior hospital doctors and dentists who are locked in a pay dispute with Health NZ. Its policy and research director Harriet Wild said the positive benefit of funding increases in areas like urgent care and cancer medicine were not enough to solve the staffing crisis. "It's a departure lounge Budget because we are facing a recruitment and retention crisis across the board. "Everyone will continue to leave, whether that's specialists, trainee doctors, nurses, workers across the health sector, either heading into private, or heading straight overseas." Health Minister Simeon Brown said the government's record investment over three budgets was already delivering results - in terms of more elective surgeries, GP appointments and other critical healthcare services. Sign up for Ngā Pitopito Kōrero , a daily newsletter curated by our editors and delivered straight to your inbox every weekday .
Yahoo
16-05-2025
- Health
- Yahoo
New CRISPR alternative can 'install' whole genes, paving the way to treatment for many genetic disorders
When you buy through links on our articles, Future and its syndication partners may earn a commission. Scientists have developed a new gene-editing system that can weave whole genes into human DNA. It could one day lead to a better method of treating genetic diseases triggered by a diverse range of mutations. So far, the approach has been tested only in human cells in the laboratory. But if it's shown to be safe and effective for patients, it could provide an alternative to gene-editing tools that target only specific typos in DNA. Rather than correcting a single gene mutation, the new technique would instead introduce a working copy of the gene into a person's cells. "A single genetic disease can be caused by many different mutations in that gene," said Isaac Witte, a doctoral student at Harvard University and co-lead author of the new research. For example, cystic fibrosis can be triggered by more than 2,000 different mutations in a specific gene. "Treating it [these types of conditions] with genome editing often requires many, mutation-specific approaches. That's labor-intensive, and also intensive from a regulatory standpoint" to get all those approaches approved, Witte told Live Science. An alternative strategy is to introduce a whole new gene to make up for the broken one. The gene editor, described in a report published Thursday (May 15) in the journal Science, enables these types of edits and can insert the new gene directly "upstream" of where the broken one is found in human DNA. More work is needed to get the new gene editor out of the lab and into medical practice, but "we are quite excited by this," Witte said. Related: CRISPR 'will provide cures for genetic diseases that were incurable before,' says renowned biochemist Virginijus Šikšnys Classical CRISPR systems are often nicknamed "molecular scissors" because they use proteins to cut DNA. These systems are found naturally in bacteria, which use CRISPR to defend themselves against invaders, such as viruses. The core of the new gene editor is also borrowed from bacteria, but it does not cut DNA. Rather, it moves large sections of a host's DNA from one location to another in a highly targeted manner. These systems — called CRISPR-associated transposases (CASTs) — have been known about since 2017 and act as a way for "jumping genes" to leap around, either within the same cell's DNA or possibly into other cells' genomes. CASTs are attractive for gene editing because, unlike molecular scissors, they don't cut DNA and thus don't rely on cellular machinery to patch up the DNA that's sustained the cut. That repair process makes it tricky to add new DNA to the genome, in part because it can introduce unwanted mutations. CASTs, on the other hand, sidestep that issue. But CASTs found naturally in bacteria don't play well with human cells. In previous studies led by Samuel Sternberg, an associate professor of biochemistry and molecular biophysics at Columbia University and a co-senior author of the new paper, researchers characterized naturally occurring CASTs and then attempted to use them to edit DNA in human cells. But the systems proved very inefficient, inserting DNA into only 0.1% or less of the cells, Witte said. So Witte, Sternberg and colleagues set out to make CASTs more useful for human therapies. They started with a CAST from Pseudoalteromonas bacteria, which, in previous studies, had shown a teensy bit of activity in human cells. Then, they used an experimental approach called PACE to speed up the evolution of that CAST, introducing new tweaks to the system in each successive round. Through this process, the team evolved a new CAST that could integrate DNA into human cells with 200-fold more efficiency than the original, on average. "It took over 200 hours in PACE, which corresponds to several hundreds of evolutionary generations," Witte said. The same process would have taken years with more conventional methods of directing evolution in lab dishes. Related: 188 new types of CRISPR revealed by algorithm The evolved CAST — dubbed evoCAST — includes 10 key mutations that are needed for it to work well in human cells, Witte said. However, the system works better in some types of human cells than in others, and more research will be needed to understand why that is, he said. The team assessed how well evoCAST worked at regions of the genome that carry genes that are mutated in certain diseases, such as Fanconi anemia, Rett syndrome and phenylketonuria. The team found evoCAST worked in about 12% to 15% of treated cells. Although 100% efficiency is likely not necessary to treat genetic diseases, Witte noted, the exact efficiency needed to cure a given condition likely varies and will require study. RELATED STORIES —New CRISPR system pauses genes, rather than turning them off permanently —CRISPR used to 'reprogram' cancer cells into healthy muscle in the lab —CRISPR therapy for high cholesterol shows promise in early trial The team also tested evoCAST as a method for editing immune cells used in CAR T-cell therapy, a cancer treatment, and found it was similarly efficient for that purpose. That raises the idea of using this gene-editing approach not only inside the human body, but also in the lab to manufacture these types of cell-based therapies. Future research will need to figure out how to best deliver evoCAST to the right cells in the body. "There are a lot of areas for further studies," Witte said. Of course, those studies will need to be funded, and on that front, "it's a difficult time," he added. The new Science study was supported, in part, by the National Institutes of Health (NIH). Now, the NIH's funding has been slashed by sweeping cuts, some of which specifically singled out Ivy League universities like Harvard. "It is something that we're actively dealing with," Witte said.
Yahoo
13-05-2025
- Business
- Yahoo
This Stock Just Dropped by 12% in 1 Day. History Says This Will Happen Next
Vertex Pharmaceuticals' shares dropped due to poor first-quarter results. The company tends to run up after significant price drops. Vertex's business and prospects remain attractive. 10 stocks we like better than Vertex Pharmaceuticals › Vertex Pharmaceuticals (NASDAQ: VRTX), a leading drugmaker, is performing exceedingly well for the year -- or at least it was, until it released its first-quarter update. The results were not to the market's liking, so much so that they led to a significant post-earnings dip for the stock. Shares are still in the green year to date, but only barely. However, Vertex's past stock-market meltdowns -- and what happened afterward -- might suggest that its most recent drop represents an excellent buying opportunity. Let's review some reasons that led to Vertex Pharmaceuticals' post-earnings dip. First, the company's financial results were not as strong as expected: It missed revenue and earnings estimates. Second, the biotech announced a clinical setback. It decided to pause the development of VX-522, a next-gen, mRNA-based therapy for cystic fibrosis (CF), due to potential tolerability issues. Vertex famously dominates the CF area, and its current medicines can treat about 90% of patients with this rare disease. It was developing VX-522 for some patients who are not eligible for the existing standards of care, but the medicine's future is now uncertain. With that out of the way, let's review how Vertex's shares have reacted after double-digit plunges in the past five years. Back in 2020, the company announced it would give up the development of VX-814, a potential treatment for alpha-1 antitrypsin deficiency (AATD), a rare disease that can cause lung and liver damage. Vertex's shares fell off a cliff following this announcement on Oct. 14, 2020, but they bounced back big-time thereafter: More recently, on Dec. 19, Vertex announced phase 2 results for suzetrigrine (marketed as Journavx in treating acute pain) in patients with painful lumbosacral radiculopathy. The data was positive, or so said the company. Wall Street disagreed, sending Vertex's shares down significantly. Once again, the stock rebounded admirably, at least until its most recent dip. And even considering this post-earnings decline, Vertex's shares have outperformed broader equities since that debacle: Of course, these examples don't guarantee the same thing will happen this time, but there are good reasons beyond the historical record to believe it will. Let's dig deeper into Vertex's Q1 update. Its results did miss analyst projections, partly because of copies of its CF medicine in Russia that ate into its revenue and earnings. Vertex Pharmaceuticals believes this issue is isolated to Russia, and that even there the company should be able to solve it eventually, since these are illegal copies. What about the recent clinical setback? The worst-case scenario would be for the drugmaker to abandon the development of VX-522. We don't know if this will happen yet, but if it does, it wouldn't be the first time one of its CF therapies fails a study. Developing medicines that address the underlying causes of this rare condition is challenging; that's why no biotech company has been able to do it except for Vertex Pharmaceuticals. Even if this one fails, the company's significant experience in this area suggests that it will eventually crack the code for patients who are currently ineligible for its existing drugs. It has developed newer medicines with broader patient populations multiple times in the past 10 years. Of note, Vertex also took a $379 million impairment charge in the first quarter that affected its bottom line, due to its decision to give up development of VX-264, an investigational therapy for type 1 diabetes (T1D). But the issues that led to Vertex's poor first-quarter results are temporary. It has excellent long-term prospects, as its CF lineup is still going strong. The recent addition of Alyftrek -- a newer CF therapy -- to its portfolio should eventually make a meaningful impact. The company's other products, Casgevy (which treats two rare blood diseases) and Journavx, should also meaningfully contribute to top-line growth. Vertex's pipeline features VX-880, another medicine being developed for T1D; given this therapy's progress, Vertex expects regulatory submissions in 2026. Elsewhere, it is working on potential breakthrough drugs such as inaxaplin, which could become the first medicine that targets the underlying causes of a condition called APOL-1 mediated kidney disease. With all that going on, Vertex Pharmaceuticals should still perform well in the long run. Its shares look like a no-brainer buy on the dip. Before you buy stock in Vertex Pharmaceuticals, consider this: The Motley Fool Stock Advisor analyst team just identified what they believe are the for investors to buy now… and Vertex Pharmaceuticals wasn't one of them. The 10 stocks that made the cut could produce monster returns in the coming years. Consider when Netflix made this list on December 17, 2004... if you invested $1,000 at the time of our recommendation, you'd have $614,911!* Or when Nvidia made this list on April 15, 2005... if you invested $1,000 at the time of our recommendation, you'd have $714,958!* Now, it's worth noting Stock Advisor's total average return is 907% — a market-crushing outperformance compared to 163% for the S&P 500. Don't miss out on the latest top 10 list, available when you join . See the 10 stocks » *Stock Advisor returns as of May 12, 2025 Prosper Junior Bakiny has positions in Vertex Pharmaceuticals. The Motley Fool has positions in and recommends Vertex Pharmaceuticals. The Motley Fool has a disclosure policy. This Stock Just Dropped by 12% in 1 Day. History Says This Will Happen Next was originally published by The Motley Fool
Yahoo
11-05-2025
- Health
- Yahoo
Project supporting children with cystic fibrosis gets funding boost
A Scottish charity has been awarded a share of a £25,000 Scotmid funding pot. The Leanne Fund, which supports children with cystic fibrosis in areas across the West of Scotland, including Glasgow and Lanarkshire, was one of three good causes to receive the funding. Read more: Cambuslang woman to trek Himalayas for charity The other two good causes that have received a share of the £25,000 are Home Start, based in Clackmannanshire, and Megan's Space, based in Irvine. The funds were allocated after a vote by Scotmid members. The Leanne Fund intends to use its £5,000 share as part of its Get Active project. The project will provide 70 children with the chance to engage in sports and fitness activities, helping them to improve fitness, lung health, and overall well-being. The new funding will cover gym and sports club memberships for the children, as well as proving equipment, allowing them to engage in regular activity. Read more: Former STV presenter to compete in international beauty competition Eilidh Corral, from The Leanne Fund, said: "This funding will allow us to offer crucial opportunities for children with cystic fibrosis to improve their health and social connections. "By supporting their participation in sports and fitness activities, we're helping them lead healthier lives and strengthen their resilience." The Leanne Fund said that 50 per cent of the children it supports live in some of the most deprived areas of Scotland.
