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The Star
20 hours ago
- Health
- The Star
Children with SCID are born defenceless against infections
As a parent, you'd probably never guess that if your child repeatedly gets an infection, it could be due to a genetic disorder. Even medical practitioners may not be aware of this. Primary immunodeficiencies – now often referred to as inborn errors of immunity (IEI) – are a group of more than 500 rare, inherited conditions where a part of the immune system is missing or severely impaired. These genetic flaws can affect anyone regardless of age, gender or race, leading to an increased susceptibility to infections, autoimmune diseases or other immune problems. The infections may show up in the skin, sinuses, throat, ears, lungs, brain, spinal cord, or in the urinary or intestinal tracts. IEI patients often have repeated infections, infections that won't clear up, or unusually severe infections. They can also present with tumours, severe allergies, multiple enlarged lymph nodes or an enlarged liver. Researchers are discovering more and more IEI, with the most common one being antibody deficiency. Antibodies are proteins that protect you when unwanted substances such as bacteria, viruses and toxins enter your body. 'Some people may have mild IEI, but do not display any symptoms. 'Perhaps those with recurrent episodes of upper respiratory tract infection [URTI] could have it, but they don't know because they have never done a blood test to check if there is a problem with the function of antibodies,' says Hospital Sultan Abdul Aziz Shah (HSAAS) consultant paediatrician and clinical immunologist and allergist Associate Professor Dr Intan Hakimah Ismail. An emergency situation Prof Intan says babies with SCID seldom live past a year old without a bone marrow transplant due to the frequent infections they get. — Photos: GLENN GUAN/The Star Out of all the IEI, severe combined immunodeficiency (SCID) is the most critical one. This condition impacts the T cells, as well as the B cells and natural killer cells – all immune cells that originate from the bone marrow and are crucial for fighting off infections. Infants with SCID appear healthy at birth, but are highly vulnerable to severe and potentially fatal infections. Usually, the prognosis is poor, as babies don't live past a year unless they get a bone marrow transplant. Says Assoc Prof Intan: 'We consider SCID as a paediatric emergency, so we have to go all out to get them a transplant as quickly as possible. 'With other IEI, there is time to discuss a transplant, but here, there is no time – they will die. 'The majority of SCID babies will have an infection within the first few weeks of life. 'This can include URTI, pneumonia, diarrhoea, gastroenteritis, fungal infection, oral thrush, pus at the BCG vaccination site, etc.' If the baby has had only one episode of infection, it may be hard for the paediatrician to make the right diagnosis. Only after repeated infections may the doctor suspect something amiss and order further blood tests to check. Possible to cure While breastfeeding is generally beneficial for infants, it can pose risks for babies with SCID due to the potential transmission of cytomegalovirus through breast milk. Treatment for SCID includes intravenous immunoglobulin (IVIG) replacement therapy, enzyme replacement therapy and gene therapy, but the latter two are not available in Malaysia. ALSO READ: New gene therapy shows promise against 'bubble boy' disease At HSAAS, once a SCID child is diagnosed or referred from other hospitals, they are started on IVIG immediately, along with antibiotics, antifungals and anti-tuberculosis drugs to prevent infection. 'If they have recurrent viral infections, we also start them on antiviral medications – all these are temporary solutions while waiting for a bone marrow transplant for a cure. 'The ideal donors are usually the siblings [without SCID] as they are likely to have a 100% genetic match. 'If not, the parents come next or someone unrelated with a 100% genetic match. 'Thankfully, we can now get the donor's stem cells from the peripheral blood instead of the bone marrow directly, which is a less invasive procedure. 'The child has to be infection-free as much as possible before the transplant, but in some situations, this is not possible, so if the infection is minimal, the transplant can proceed,' explains Assoc Prof Intan. In most instances, only one transplant is required for a cure. Inaccurate numbers Currently, like most rare diseases, there is no national registry for IEI or SCID. Jaasritha is not out of the woods yet and still needs IVIG treatment monthly, but Manonmani is happy that her baby's smile has returned. The prevalence of SCID worldwide is estimated to be one in 50,000 to 100,000 live births. Based on that statistic, Malaysia should have 60-100 cases annually. However, this number might be an underestimate, as some cases may be missed due to death before diagnosis. 'In UPM [Universiti Putra Malaysia], I have my own data in our centre and we are only picking up three to four cases a year. 'Although we are the leading IEI referral centre in the country, not all cases are referred to us. 'Our data from 2012 shows we have more than 1,000 IEI cases, but for SCID alone, it's 44, so we're definitely missing out on the actual numbers,' says Assoc Prof Intan. That's why she is fighting hard to get newborns screened for SCID, She says: 'We had two cases where the first child was born and died within three or four months. 'It was the same story with the second child, and only when the couple had their third child, we diagnosed the infant with SCID. 'The treating doctor didn't think of SCID as a possibility, or maybe he wasn't aware of the disease. 'Sometimes, the child may be too sick to travel to HSAAS, so we ask the hospitals to send us their blood sample first, as we have labs here that can deliver the results within 24 hours.' ALSO READ: Doctors essential in driving access for rare disease treatment 'Blessed child' When Jaasritha Sai was born in 2023, she weighed 2.1kg – a low birth weight – but she was otherwise healthy. A beautiful, smiley baby, she gained weight quickly, but at three months old, started developing flu symptoms and skin issues. 'We thought her rashes were due to the diapers and we changed the brand, but it didn't help. 'And despite her phlegm, she could drink the whole bottle of milk at one go. 'But suddenly, at six months, Jaasritha would become breathless after drinking two ounces, vomit and purge. 'She became considerably weak and we took her to the hospital's emergency department where she was warded after being diagnosed with pneumonia,' recalls her mother Manonmani Suparamany, 42. Upon discharge, the diarrhoea didn't stop and Jaasritha's weight dropped drastically. Manonmani sensed something was wrong and consulted multiple specialists from various hospitals before she was referred to Assoc Prof Intan, who confirmed a SCID diagnosis. That was in November 2023 when Jaasritha was nine months old. The single mother from Klang, Selangor, says: 'I didn't even know there was such a condition where both parents carry the mutated gene – my world came crumbling down. 'She was immediately started on treatment and had to stay in an isolated room for nine months. 'Everyone who came in had to wear PPE [personal protective equipment] and mask up because she caught a major infection three times.' Manonmani's employer agreed to let her go on unpaid leave to look after her sick child. It was tough being confined to a room for so long and when there was no one watching, the anxiety-ridden Manonmani would cry buckets. As Jaasritha has no siblings, her mother was the next best bone marrow donor. (Her father is not involved with the family.) Alas, Manonmani was only a 50% match – not ideal – and was rejected by Hospital Kuala Lumpur, where Jaasritha was on the wait list for a transplant. Because time was crucial to save Jaasritha's life, Assoc Prof Intan pooled her resources and found an opportunity at the Apollo Cancer Specialty Hospital in Chennai, India. They accepted Manonmani as a donor, but the transplant cost was high at RM200,000. She says: 'Still, it was cheaper than the RM1mil quoted in one local private hospital. 'Since I was utilising my employer's insurance, it did not cover overseas medical expenses, so with the help of the non-profit Malaysian Patients Organisation for Primary Immunodeficiencies (Mypopi), we crowdfunded to raise RM300,000 in a week. 'But the final cost came up to RM415,000 as Jaasritha had to do the transplant thrice due to some complications. 'She didn't do well after the first transplant and lost her smile along the way. "She refused to say any words – that frightened me as I didn't know how I would handle losing her.' It was also a painful process for Manonmani, as she had to be in bed for five hours without moving while her stem cells were being extracted. Finally, Jaasritha was given the green light to fly home after five months. 'In total, we spent 14 months in hospital. 'She's still not out of the woods yet and needs IVIG every month at HSAAS until her antibodies stabilise. 'Since her transplant, she has not caught any infections except Covid-19, but she managed to fight it off, which is a good sign. 'I'm still traumatised and don't like to expose her too much, although I take her to the park when it's not crowded,' says Manonmani. More importantly, Jaasritha's smile has returned and she can now walk, climb stairs and baby talk again at 28 months. Assoc Prof Intan concludes: 'Jaasritha is a blessed child and a fighter indeed.'
Toronto Star
a day ago
- Health
- Toronto Star
Stay out of the water at 11 Niagara public beaches
Heading to the beach? You'll want to stay out of the water at Waverly, Casablanca, Fifty Point Conservation Area, Nelles, Charles Daley Park, Queen's Royal, Centennial Park, Nickel, Long, Reebs Bay and Lake Erie as of July 22 at 1 p.m. Here's the latest beach water quality report from Niagara Region Public Health: Bernard Avenue Beach in Fort Erie (1 Bernard Avenue) tested safe for swimming on July 22 According to public health guidelines from the Ontario Ministry of Health and Long-Term Care, water is considered unsafe for swimming when one sample contains 400 or more E. coli bacteria per 100 millilitres, or the geometric mean of five samples is 200 or more. Collecting, transporting and testing beach water for E. coli can take a day or more, so the latest available data may not reflect current conditions at the beach. Swimming is not recommended when it's raining, the water is wavy or cloudy, there are lots of birds, or for two days after a big storm. Consuming E. coli can cause serious illness, including stomach cramps, diarrhea and vomiting. When high levels of the bacteria are detected it's more likely that other harmful organisms are present as well, including those that cause skin rashes and eye, ear, nose and throat infections. A beach may also be considered unsafe for swimming due to weather conditions, runoff, pollution, spills, smells, garbage, sharp debris and dead fish. In addition, public beaches are monitored for blue-green algae, which can be highly toxic to humans, dogs and other animals. About this story
7NEWS
2 days ago
- 7NEWS
Nightclub revellers rendered unconscious in horrific coward punch and choking attacks
Two separate nightclub incidents allegedly left unsuspecting victims unconscious on Sunday. The first of the two Canberra club attacks, on the streets surrounding City Hill, took place on London Ct about 1.50am. The victim was allegedly punched several times in the head until he was rendered unconscious. 'The punches were allegedly thrown quickly and without notice,' ACT Police said. A 20-year-old Victorian man was arrested over the incident, and charged with affray. He will face the ACT Magistrates Court on Tuesday. Just over two hours later, another violent outbreak allegedly occurred two streets away. A 38-year-old man from Ngunnawal was 'accidentally bumped' in another city nightclub on Bunda St about 4.10am, police said. They report that is what prompted the 38-year-old man to allegedly push the other man, and grab him by the throat until he was choked unconscious. The Ngunnawal man faced the ACT Magistrates Court on Monday. The ACT Police has warned there is zero-tolerance for this type of violence. 'Assaults such as these are incredibly dangerous and can cause significant injury or death,' ACT Police said. 'Police will not tolerate this type of offence in our community and will act on the incidents to the full extent of the law.'
The Herald Scotland
4 days ago
- General
- The Herald Scotland
How a TIE assembly changed my life and gave me hope
The joking chatter, then hesitant murmurs, then awed silence of first year secondary students in a packed assembly hall opened something in me. The words 'I am a lesbian' had been lodged in the back of my throat for some months, in no small part due to a fear of how the young people around me would react. There had been laughter as I turned corners, catching the edges of cruel words I wished we were still a year too young to know. Except it had already happened - boys who'd shared coloured pencils and made up playground games at 10, were huddled in impenetrable circles spitting insults at 12. As Jordan and Liam of TIE stood before us, I refused to register my classmates' reactions. I was rapt in Jordan's story of a young gay man who had hurt in silence the way I was. He told us he had gotten to the very depths of what keeping those words unsaid and choking you can do to a teenager, then come out the other side. In Liam's description of coming to be an ally, I saw a positive straight masculinity I hadn't been sure existed before. I saw what could happen if the boys I grew up with had kept drawing and running around with me - I think they saw it too. Unlike the assemblies of old on distant topics, which were talked through or skipped by long stretches in the bathroom, we were dared to participate. 'Raise your hand if you've witnessed homophobic jokes or bullying at school.' I held my breath through the moment of silence, of eyes avoiding contact. It would be easy to tell the lie of omission, but once I raised my hand, I looked around to see many others had too. Some were tentative, falling back to fidget with a blazer seconds after, but there they were, a sea of hands. This was a real moment of change, and I felt it wash over the entire room. READ MORE Shortly after that day, where I cried on the way home to my mum, not out of sadness, but a then elusive thing I can now name as hope, I made a decision. I came out to my entire year group, during a speech competition with the prompt of 'fear', and won. I don't remember what I spent the £20 book token on, but I remember the people who looked me in the eyes like something had opened in them too. Years away from this experience, I still hear from old classmates that the assembly from TIE, then my speech, had given them the push to come out. My school changed, slowly and then all at once. Now, they have the integrated inclusive education TIE won for all Scottish young people in 2018. I know that TIE will spend the next ten years fighting the battles they're needed in with radical compassion. I know it because I'll be spending them at protests and parades, with friends who remember the pain of a lump in their throat enough to always use their voice.
SBS Australia
15-07-2025
- Health
- SBS Australia
Could it be meningococcal? Australia approaches the high-risk disease's peak season
Two years ago, Jacob Blackwell was a fit tradesman with a love of sports - until a devastating bout of meningococcal disease turned his life upside down. Within two days he went from feeling lethargic to experiencing delusions. In hospital, doctors put him in an induced coma and saved his life. But he suffered severe long-term complications, losing the ability to do even basic tasks. "Everything I had to learn to do again, so eating, talking - back to square one. Think of it as an 18-month-old, just learning to do everything again." His mother Chelsea Blackwell remembers her shock on seeing the illness take hold of her son. "I actually couldn't comprehend what I'd seen. I opened the door, I looked and I was just like hmmm. Jacob didn't look like Jacob because his brain had already been swollen so his eyes were protruding and his skin was breaking a little bit. So they actually thought initially he had been assaulted." Meningococcal disease is caused by bacteria, called neisseria meningitidis, which most people carry in the back of their throat at some point in their lives. But when that bacteria turns invasive it can enter the brain or the bloodstream, causing potentially life-threatening infection. General Practitioner Dr Sam Hay says the disease can progress dangerously quickly. "It often starts with a flu-like illness, bit of a cold, bit of a runny nose, a bit of a cough. But then it progresses, fevers and (the patient) becomes very, very sick after that. People can go downhill within 24 to 48 hours." As Australia enters peak season for meningococcal, there's a national campaign ((launched Monday)) to raise awareness of the disease which primarily affects young adults and children. Doctors say the illness is on the rise, with 56 cases already reported this year - 18 of those in New South Wales. Dr Sam Hay says infections can have devastating consequences. "One in 10 people who get the invasive meningococcal can unfortunately pass away. One in five get these significant side-effects, complications, that could be brain damage, loss of limbs, hearing loss, and the list goes on.' Paralympic swimmer and bronze medallist Jay Dohnt contracted meningococcal when he was in high school. After feeling sick and developing a rash, he went to see a GP. Just 24 hours after developing symptoms, he was in intensive care. "The ambulance was still in precautionary mode, they didn't even put the lights on to take me to a hospital. At the hospital, it was a different story. They all met me out in the carpark, and took it very seriously. That evening (I was) hooked up to everything in the intensive care unit and given a 97 per chance of dying, or a 3 per cent chance of living. I wasn't conscious for the first two weeks, and I don't remember much from the first two months of a five-and-a-half month hospital stay. But this is essentially the end result - a bilateral knee amputee. Missing my patella (kneecap) in my left leg, lost four fingers on my right hand as well. So very life-changing for a teenager who loved sport." It's these life-altering impacts that lead Karen Quick, CEO of Meningitis Centre Australia, to stress the importance of early detection, urging parents to push for answers. "It's really important as parents that we're aware of all the signs and symptoms, that we trust our instincts and we get help straight away. Go straight to the hospital, straight to the doctor, and ask the question - could it be meningococcal?" Dr Sam Hay warns people not to wait until they have developed a rash as by then, it could be already too late. "When it gets into the blood stream, that's when you get the septicaemia and that then goes on to the rash. But the problem is that the rash, while it is dangerous, it happens late. And if you are looking for that, things have gone too far." Two years after his brush with meningococcal, Jay Blackwell is still working on his recovery. Inspired by Paralympian and fellow survivor Jay, he has taken up swimming and says, despite many challenges, the future is looking bright. "You kind of adapt to the life you live now you don't really think about your old life. As hard as it has been, I kind of like to take every day as my glass half full, pretty well. There's all these opportunities that I couldn't even imagine.'
