Latest news with #MLD
Telegraph
03-08-2025
- Health
- Telegraph
My daughter has a terminal illness but her life still has value
When Megan Gillett learnt that her daughter, Nellie, would probably die before her eighth birthday, she wrote a list of things she would never see. 'I will miss you starting school, wearing a uniform or dressing up for World Book Day,' she noted. Then she put the letter away and vowed to make Nellie's life one full of love and happiness, not grief – creating a new list, full of joyful adventures she wanted Nellie to have. Personal banker Megan, 37, says, 'Nellie has had experiences most five-year-olds haven't. Other parents think they have time, but we don't have time with Nellie, so we do things now. 'When she smiles, we smile. The smiles are starting to be stolen now by the dementia which comes with her disease, but she is so brave you wouldn't realise what is happening.' In May 2022, aged two, Nellie was diagnosed with a progressive brain disease, metachromatic leukodystrophy (MLD). The genetic condition means enzymes in her liver attack the layer protecting her brain, damaging the nerves which send signals around her body. Sufferers lose the ability to move, talk, eat and play as their body deteriorates. Doctors told her parents that Nellie wasn't expected to live beyond the age of five but the life expectancy of a child with MLD has now been raised to eight. Megan and her partner, Tom, 40, have spent the past three years ensuring that Nellie's life is as happy and full of love as it could be, writing her bucket list, including dry-slope skiing, horse riding and a theatre trip. When life took a turn Nellie was born on December 11 2019, weighing 6lb 8oz. Megan says: 'Despite being anxious after a previous miscarriage at 10 weeks, the pregnancy was lovely. I ate my way through a Victoria sponge every day. 'At 20 weeks, we learnt we were having a girl and were so happy. When she was born, I felt like I had come home, as if I had been waiting for Nellie my whole life.' The couple called their daughter Nellie Sunshine and settled into family life, until the pandemic hit three months later. Megan couldn't see other babies to compare progress with, but while Nellie was 'sunshine by name and sunshine by nature', she had low muscle tone and seemed floppy. Megan's mother and her GP were concerned Nellie couldn't move her arms properly, but at 10 months, a hospital consultant dismissed her as 'fine'. Nellie's first word was 'Mama', however, she didn't start walking and one foot began turning inwards. Then she developed a squint. Testing finally gave a diagnosis and on May 12 2022, Megan and Tom, from Eastbourne, were called to see Nellie's doctor in London. Megan says: 'It was a short meeting. They explained Nellie had MLD, it was too late for treatment and she would likely die around the age of five. 'Then they said they would pass us to the palliative care team. Tom and I were in such shock, we thanked them and left. I remember walking across Westminster Bridge together, getting on the train home and having to ring our families to tell them Nellie wasn't going to grow up. 'When we spoke to the palliative care team I couldn't stop crying. I couldn't imagine talking about my child and palliative care in the same breath.' Determined to make memories By August 2022, Nellie had lost 'everything'. She was no longer able to move or communicate. Megan says, 'It was insanely quick, a matter of weeks, but she smiled throughout. She was so brave and we channeled that. 'A friend kindly set up a GoFundMe to enable us to make memories with Nellie and I started posting on social media to show how we were using the money – and raising awareness of disabilities. 'I was determined to show people the beautiful experiences in our life, amid the grief.' In the midst of Nellie's diagnosis and deterioration, Megan and Tom's son Ozzy, now two, was born in April 2023. Amniotic fluid sampling at 14 weeks showed Ozzy didn't have MLD and when her brother arrived, Nellie showed her delight with her trademark smile. They share Sunshine as their middle name. Now Megan intends to show beauty and joy can be found in the darkest places even as they lose more of Nellie. She says, 'Nellie is sick most days. It is physically challenging and it means life has to be much more structured than we would most likely have lived, but it's such a privilege to be Nellie's parents, we mostly feel grateful. 'I have a gorgeous life, with beautiful children. We have lost friends who don't know what to say to us and I've grieved hard knowing we will lose Nellie, but we don't plan ahead. We focus on the day and if she's happy, so are we.' Nellie's bucket list Despite being susceptible to illnesses and infections, Nellie attends a specialist school and with her hospice nurse Emma, based at Chestnut Tree House, in West Sussex, has taken part in dry slope skiing, bike riding and ice-skating, smiling throughout, using specialist equipment such as her off-road wheelchair. 'Nellie understands things but she's not as present as she was and we don't know how long we have left with her,' says Megan. 'When she was diagnosed I wrote a list of things I would miss, but she's now done most of it – going to a specialist school or dressing up for World Book Day and showing us her smiles to express herself. 'While I won't see her get married, have babies or be a teenager, we've shown that a terminal diagnosis doesn't mean you can't live. 'You wouldn't think you could have great years while your child is dying, but you can.' Nellie's diagnosis has led to Megan's support for choice in assisted dying. She says: 'I strongly stand by the belief that life is worth living with a terminal illness, this is what we're showing with Nellie and her bucket list and trying to infuse joy into her every day, but I also believe people should have a choice in dying. 'There will be a time where we have to make decisions, for example if doctors come to us and say they can't ventilate Nellie again or we consider her quality of life and decide enough is enough. 'We will do that for our child so why are adults not allowed to decide for themselves?' Life-saving test While there is treatment for MLD, it needs to be given before symptoms start. Megan is desperate for MLD to be added to the newborn screening test – the heel-prick test – allowing doctors to diagnose and treat the condition long before symptoms start showing, therefore saving the lives of children like Nellie. Meanwhile, Nellie's bucket list includes going to the theatre, enjoying a night away with her mother and riding a horse. Supporters have kindly donated or arranged treats for Nellie and the family's biggest wish is for Nellie to enjoy a Disney cruise. For now, the family are spending their time creating memories together, on family adventures, doing sensory classes or even simply visiting the park. Megan says: 'It's hard to grieve a child who is still alive, but sometimes that is what happens. I want to give Nellie the best life she could ever have, for as long as we have got her for. 'We do talk about life without Nellie. It feels like an unimaginable place and we mainly say we can't imagine living without her smile or being able to hold her hand, which is agonising. 'However we also know that despite the pain we have to honour her spirit. 'Living and continuing to find joy where we can, just like she has all along, feels like the way we will most strongly honour her.'
Daily Mail
22-06-2025
- Health
- Daily Mail
Revealed: The most eye-wateringly pricey drugs that the NHS is paying some £3million a dose for...while dementia and cancer patients are denied cheaper treatments
NHS bosses are paying millions of pounds for just a single dose of medication to treat some of the most devastating health conditions in the world. The drugs—some of which cost just shy of £3million per patient—can revolutionise and even save the lives of a handful of people born with rare illnesses each year. But it comes as Government officials have deemed cheaper treatments for far more common conditions like dementia and breast cancer as not worth the money. Libmeldy is widely cited as the most expensive drug available on the NHS, coming in at an eye-watering £2.875million per dose. It's used to treat babies with a fatal genetic disease called metachromatic leukodystrophy (MLD). While born seemingly perfectly healthy, children with MLD have a faulty gene that leads to a destructive build-up of fat around their nerves. Over time, this severely damages their brain and nervous system, with parents forced to watch helplessly as their child gradually stops walking, talking and then eating. Roughly four babies are born with MLD every year in the UK, and have a life expectancy of just five to eight years. But Libmeldy, a one-off treatment administered as an IV drip in hospital, uses a specially designed harmless virus to alter a patients' cells and remove the faulty gene that drives MLD. It's a bespoke treatment that uses a patient's individual cells, meaning a dose is unique to each individual. Another treatment that works in a similar way is Hemgenix, which MailOnline revealed was administered for the first time by the NHS earlier week. The drug —which costs an estimated £2.6million per patient—is also a gene therapy, delivered as one-off IV drip. It is the only treatment of its kind for haemophilia B, a bleeding disorder where the body doesn't make enough—or any—of a vital protein critical to clotting. Clotting stops wounds from bleeding, so those with the disorder risk suffering severe and even life-threatening blood loss from even minor injuries. Patients also run the risk of what are called 'spontaneous bleeds', which can be triggered without a direct injury and even prove deadly if they occur in a vital organ. Prior to Hemgenix, all haemophilia B patients needed regular weekly injections of an artificial clotting agent to keep their risk of catastrophic injury to a minimum. This meant many patients were effectively tethered to their scheduled injections, unable to live their lives without worry and anxiety about every potential nick and scrape. Similar to Libmeldy, Hemgenix works by replacing a patient's defective gene—which is incapable of producing the clotting protein—with one that can, eliminating the need for regular injections. Studies suggest the protective effect lasts for at least three years, but the hope is that it could work for even longer. There are approximately 2,000 people with haemophilia B in the UK. Yet, only around 260 with 'moderately severe or severe haemophilia B' are currently eligible for Hemgenix on the NHS. This puts the potential total bill to the taxpayer at roughly £676million. While a cost of £2.6million per patient may seem prohibitive, medics claim the treating patients this way actually saves the NHS money in the long term. The lifetime cost of providing a patient the alternative weekly clotting injections has been estimated to be £8million. This sum doesn't include the cost of life-saving interventions and surgeries haemophilia B patients may also need. Another multi-million drug approved for use on the NHS is Zolgensma, which comes in at £1.8million per dose. It's designed to help babies with spinal muscular atrophy (SMA), a genetic disease that typically kills within two years if left untreated. Around 56 babies are born with SMA each year, with the condition caused by a defective gene that plays a critical role in allowing nerves in the spinal cord to control muscles movement. SMA causes muscles to waste and gets worse over time, making it difficult for patients to breathe, move and eat. Nine in 10 of those who have the most severe form of the disease, known as type 1, die by the age of two if they do not receive treatment. Zolgensma is given as one off infusion—that like the previously discussed gene therapies—also fixes the faulty gene that drives SMA. Gene therapies are incredibly expensive medications due to the intense design and manufacturing process that goes into their creation. Additionally, because many of them benefit rare health conditions with small patient populations there is an argument that companies need to charge high prices to recoup costs given the drug may only be used a handful of times per year. But exactly how much the NHS pays for these drugs isn't clear. While the companies which make the drugs do charge millions for them, the health service often acquires the medications at an undisclosed discount, so the actual cost is likely to be less than it first appears. Which drugs get funded on the NHS in England and Wales is determined by the NHS spending watchdog, The National Institute for Health and Care Excellence (NICE). In making its decisions, NICE considers a multitude of factors. These include a drug's clinical impact—how much it improves or alleviates a patient's condition—as well as risk of side effects, practical issues like specialist storage, if there are alternatives, and, critically, how much it costs. It then judges if funding the drug will overall provides value for taxpayer money. This is often summarised using a metric called a quality-adjusted life year (QALY), essentially how much it costs to give a patient a healthy year of life. Lecanemab (pictured) and donanemab are currently only available to Brits who can afford to pay around £60,000 privately every year at select clinics Generally, if a drug costs about £20,000 to £30,000 per QALY NICE usually assesses it as a good use of taxpayer funding. This isn't a hard limit. The watchdog can rule drugs that are expensive and only work for a limited time, like end-of-life medications as worth the cost, recognising small amounts of time can be worth a lot to patients and their families. However, this process isn't an an exact science and can attract controversy. For example, the breast cancer drug Enhertu, described as a lifeline by campaigners, has been deemed too expensive by NICE for what it does. However, Scotland's equivalent of NICE—the Scottish Medicines Consortium—has deemed the £10,000 per patient per month drug as value for money. Research suggests Enhertu extends the lives of patients with one of the hardest to treat forms of breast cancer, buying them an extra year or more of life. Given as an infusion, it helps patients with an aggressive and fast-growing type of the cancer called HER2-positive. NICE previously accused the firm behind the drug, AstraZeneca, of refusing to 'offer a fair price'. About 57,000 cases of breast cancer are diagnosed in the UK each year with HER2-positive cancers accounting for roughly one in five of these, some 11,500. Other drugs that have attracted controversy after being rejected by NICE are donanemab and lecanemab. Both medications are designed slow down the early stages of Alzheimer's disease, the leading cause of dementia. The drugs bind to amyloid, a protein which builds up in the brains of people living with Alzheimer's, helping to clear out the substance and slowing cognitive decline. However—in its most recent ruling—NICE said while the treatments worked they only delayed the progression from mild to moderate Alzheimer's by four to six months. As such, the body ruled the medications cannot be provided on the NHS because they are not good value for money and 'only provide modest benefits at best'. Charities described the decision as 'disappointing' and a 'painful setback' for patients, while the firms Lilly, which makes donanemab, and Eisai, which makes lecanemab, said they would appeal the ruling. Alzheimer's is the most common cause of dementia in the UK with 944,000 Britons estimated to be living with the memory robbing disorder. NHS England published a briefing paper last year suggesting the cost of bringing the drugs to the health service could be £500 million to £1 billion per year. While multi-million purchases of single dose drugs using taxpayer funds—as people with far more common condition are denied cheaper medications—may raise eyebrows, the cost is worth putting into context. The NHS purchasing a one off dose of a £2.875million to save a child who would otherwise die, costs roughly 4p per person in the UK. This sum is about half of £5million the NHS in England spends on dishing out the over-the-counter painkiller paracetamol every month, despite the health service banning GPs from prescribing such cheap drugs to patients in 2018.
Tatler Asia
30-05-2025
- Health
- Tatler Asia
Why everyone is talking about lymphatic drainage—and what it really does
What it actually does (and doesn't do) Despite the influencer hype, lymphatic drainage does not melt fat or deliver permanent slimming effects. What it does do is reduce water retention and localised swelling, particularly after long-haul flights, illness or salty meals. Manual lymphatic drainage (MLD)—a technique performed by a trained therapist—involves light, rhythmic strokes that guide lymph toward the body's drainage points, such as the collarbones or groin. Studies support its efficacy in reducing post-surgical swelling, alleviating chronic inflammation, and improving circulation in sedentary individuals. However, its 'detoxifying' effects are often misunderstood. The liver and kidneys are responsible for detoxification, not the lymphatic system. That said, lymphatic drainage supports the body's natural waste-removal processes by helping prevent stagnation and puffiness. What is not lymphatic drainage Above Gua sha, although often touted as a lymphatic drainage treatment, is a technique that improves blood flow and reduces inflammation. Not everything labelled as lymphatic drainage delivers on its promise. Gua sha, for instance, is rooted in Traditional Chinese Medicine and is primarily designed to enhance blood flow and relieve muscle tension—not necessarily lymph flow. While its gentle motions may look similar to MLD, unless the practitioner is trained in lymphatic anatomy, the effects remain mostly superficial. The same goes for foam rolling, deep tissue massages, and aggressive facial-sculpting devices, which often fall under the same marketing umbrella. These may improve circulation or ease muscle tension, but they don't always support lymphatic function. In fact, excessive pressure can compress lymph vessels, making matters worse. True lymphatic drainage relies on feather-light, directional techniques aligned with the body's lymphatic pathways. If your treatment leaves you sore or bruised, it wasn't done correctly. Why lymphatic drainage is trending now Lymphatic drainage taps into a bigger shift in wellness culture: the growing appeal of restorative rituals over punishing routines. Unlike high-intensity workouts or juice fasts, it offers gentle results with minimal effort—just time, access and a skilled practitioner. Social media has propelled its popularity, with up-close videos of facial massages and 'post-drainage glow-ups' reinforcing its appeal. Influencers often link it to aesthetic buzzwords like 'sculpted', 'de-puffed' and 'snatched jawline', though the biological mechanisms are more circulatory than structural. Luxury clinics in Hong Kong, Manila and Singapore now feature lymphatic drainage alongside LED facials, fascia tools and body-sculpting devices. Some treatments are manual, while others use pneumatic compression suits or radiofrequency. The real draw? A feeling of recalibration. In fast-paced cities where burnout is common, the idea of inner rebalancing sells—and lymphatic drainage delivers just that. Book only with trained experts When performed correctly, lymphatic drainage is generally low-risk. However, it's not suitable for everyone. Individuals with acute infections, heart failure or kidney issues should avoid the treatment unless cleared by a physician. Technique matters. TikTok tutorials and at-home tools can't replace professional training in anatomy or clinical contraindications. As wellness continues shifting from performance to restoration, demand for treatments that regulate rather than push the body will likely increase. Once a niche therapy, lymphatic drainage is now central to self-care conversations, sitting alongside fascia release and high-tech skin treatments. Will it transform your body overnight? No. But if what you're seeking is subtle relief, less puffiness and a deeper sense of ease, then it's worth the attention it's getting.
Yahoo
13-05-2025
- Health
- Yahoo
Top 10 most expensive prescription drugs in the US by price and by sales volume
On the heels of President Donald Trump's Monday announcement of an executive order that will slash prescription drug prices in the U.S., the spotlight is on current costs and how much Americans could save. The president's order calls for "most favored nations drug pricing" — which means "the lowest price paid for a drug in other developed countries, that is the price that Americans will pay," he said. "Some prescription drug and pharmaceutical prices will be reduced almost immediately by 50 to 80 to 90%," Trump said. President Trump Takes On 'Big Pharma' By Signing Executive Order To Lower Drug Prices Katy Dubinsky, a New York pharmacist and founder and CEO of Vitalize, applauded the move to reduce prescription prices, noting that Trump's order tackles a long-standing problem. "But this will not be simple to accomplish," she told Fox News Digital. Read On The Fox News App "The executive order doesn't reduce costs immediately," she said. "It directs government agencies to start drafting the rules, which may take months." Here are the five most expensive prescription drugs in the U.S. by price — followed by five by volume. Dubinsky detailed some of the most expensive prescription drugs in the country today and what conditions they treat. 1. Lenmeldy (atidarsagene autotemcel) by Orchard Therapeutics – $4.25 million This medication is used to treat metachromatic leukodystrophy (MLD), a rare genetic disorder that damages the nervous system, Dubinsky said. "It is given once and is supposed to stop or slow down the disease in young kids," she noted. Top 10 'Allergy Capitals' Of The Us, Plus 4 Tips To Manage Symptoms 2. Hemgenix (etranacogene dezaparvovec-drlb) by CSL Behring – $3.5 million This medication is prescribed for people with hemophilia B, a bleeding disorder. "This one-time treatment helps the body make its own clotting factor, so patients don't need regular infusions," said Dubinsky. 3. Elevidys (delandistrogene moxeparvovec-rokl) by Sarepta Therapeutics – $3.2 million This prescription medication, intended for young boys, treats Duchenne muscular dystrophy (DMD), a condition that weakens muscles over time. "It aims to slow down how fast the disease progresses," Dubinsky said. 4. Skysona (elivaldogene autotemcel) by Bluebird Bio – $3 million "This medication is used for cerebral adrenoleukodystrophy (CALD), a serious brain disease in boys," said Dubinsky. "This therapy tries to slow the damage before symptoms get worse." 5. Zynteglo (betibeglogene autotemcel) by Bluebird Bio – $2.8 million Zynteglo is for beta-thalassemia, a blood condition that usually requires regular transfusions. "This gene therapy can help patients make healthy red blood cells on their own and reduce how often they need treatment," said Dubinsky. John Stanford, executive director of Incubate, a Washington-based coalition of early-stage life-science investors, shared his thoughts on the top five most expensive drugs by sales volume. "Typically, when the government is focused on the most expensive drugs, they're focused on the metric based on sales volume rather than, for instance, a rare disease therapy with a high list price but smaller patient pool," he told Fox News Digital. "Often, officials are focused on total drug spending by Medicare or other government programs." 1. Keytruda (pembrolizumab) by Merck — $25 billion revenue (2023) Keytruda is an immunotherapy medication used to treat a variety of cancers, including melanoma, non-small cell lung cancer, liver cancer and others. "Keytruda has become Merck's crown jewel, helping the company expand its cancer treatment portfolio with more than 1,000 active clinical trials," Stanford told Fox News Digital. Terminal Colon Cancer Patient Saved By Breakthrough Treatment 2. Eliquis (apixaban) by Bristol Myers Squibb and Pfizer — $18.95 billion Eliquis (apixaban) is an "anchor drug" for both BMS and Pfizer, according to Stanford. Apixaban is prescribed to prevent the formation of blood clots and to treat deep vein thrombosis and pulmonary embolism (a blood clot in the lungs). 3. Ozempic (semaglutide) by Novo Nordisk — $13.93 billion Prescribed for type 2 diabetes, the semaglutide medication Ozempic has become widely popular for its weight-loss effects and other health benefits. "Ozempic's sales are powering Novo Nordisk's broader foray into GLP-1s for obesity, heart disease and liver conditions — all areas with high development costs and uncertain scientific outcomes," Stanford told Fox News Digital. "The money has gone toward scaling up production to meet demand for GLP-1s and avoid supply shortages." 4. Humira (AbbVie) — $14.4 billion (U.S. 2023 revenue) "Humira has been one of the highest-grossing drugs in history, generating over $200 billion during its exclusivity period," Stanford said. The injectable medication, which contains the active ingredient adalimumab, is used to treat rheumatoid arthritis and other inflammatory conditions. Click Here To Sign Up For Our Health Newsletter 5. Biktarvy by Gilead — $11.85 billion Biktarvy is an HIV treatment that includes the three ingredients bictegravir, emtricitabine and tenofovir alafenamide. "Biktarvy isn't just a leading HIV treatment — it's the financial backbone for Gilead's move into cancer research," Stanford said. Dr. Jacob Glanville, CEO of Centivax, a San Francisco biotechnology company, said vaccines and most generic drugs would not likely be changed by the executive order. "Most vaccines that Americans take cost less than a hundred dollars, while generic drugs are often less than a dollar a pill," he told Fox News Digital. What would be affected, Glanville predicted, are newer brand-name drugs still under IP exclusivity, antibody therapies, cellular therapies, gene therapies and personalized cancer vaccines. "Some of these are excruciatingly expensive — $100,000 to $500,000 for a treatment course for a patient. However, they are also often the most effective treatments for certain cancers, autoimmune disorders or rare diseases." The pharmaceutical industry might argue that lowering the prices on these medicines will result in a "dramatic reduction of investment" in creating such breakthroughs, said Glanville. The industry may also argue that these medicines eventually become generic — at which point the prices drop, according to the expert. For more Health articles, visit "From a patient's perspective, the price of medical care in the United States is unsustainable, and extremely expensive medicine is part of that," he said. But "the insurance system and the hospital business also contribute." "If the prices of new medicines are capped, then effort should be made to reduce the cost of clinical trials and drug GMP manufacturing. Otherwise, we will lose a lot of innovation." Greg Norman of Fox News Digital contributed article source: Top 10 most expensive prescription drugs in the US by price and by sales volume
Yahoo
10-05-2025
- Health
- Yahoo
Minnesota newborns to be screened for Metachromatic leukodystrophy (MLD)
The Brief The Minnesota Department of Health announced babies born in the state will be routinely screened for metachromatic leukodystrophy (MLD). Officials said screenings for the disease will likely start in 2026. MLD symptoms include patients not reaching developmental milestones, experiencing regression of skills, seizures and sometimes death. MINNESOTA (FOX 9) - Babies born in Minnesota will start to be routinely screened for metachromatic leukodystrophy (MLD), the state's health department announced. Officials say MLD will likely be added to the list of conditions Minnesota newborns are routinely screened for in 2026, based on the Newborn Screening Advisory Committee's recommendation. READ MORE: MN documentary chronicles groundbreaking treatment for rare genetic disease Big picture view MLD is a kind of lysosomal disease that is caused by an enzyme deficiency leading to a buildup of fats known as sulfatides. Health officials say the buildup causes brain and nervous system damage, which can lead to those diagnosed with MLD not reaching developmental milestones, experiencing regression of skills, seizures and sometimes death. There is no cure, but early intervention can slow progression of the disease and help manage symptoms. The Minnesota Department of Health said gene therapy "offers a promising approach" to treatment. Such a case was the subject of the documentary "Sequencing Hope", which followed an Alabama family's journey to M Health Fairview Masonic Children's Hospital in Minnesota for their daughter's treatment. Local perspective The Minnesota Department of Health (MDH) said the start date for MLD screening in Minnesota will likely be in 2026, with an exact date being determined and shared when the process unfolds. State officials add that Minnesota "has one of the most comprehensive newborn screening programs in the country" and point to screening for phenylketonuria (PKU) screening that started in 1964. Since then, all babies born in the state have had a blood sample sent to the Minnesota Department of Health for newborn screening unless parents opted out. Minnesota has since expanded its newborn screening panel to detect more than 60 conditions, allowing affected children to get the care they need as quickly as possible, according to the MDH. More information on the state's newborn screening program can be found here. The Source This story used information from a Minnesota Department of Health news release and past FOX 9 reporting.
