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The Star
23-07-2025
- 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.'
Barnama
14-05-2025
- Health
- Barnama
Family Therapy Crucial For Teen Emotional Wellbeing
F requent family conflicts, especially between her parents, coupled with a strained relationship with her mother led Fatiha (not her real name) to develop severe depression at just 12 years old. Now 13, the girl became increasingly withdrawn, cried frequently, and struggled with feelings of worthlessness — which eventually led her to harm herself by slashing her wrists. Her change in behaviour was noticed by a concerned teacher, who took the time to listen to the Form One student's struggles and later referred her to a psychiatrist. During her initial consultation, Fatiha was found to be at high risk of self-harm, prompting her immediate admission for close monitoring and treatment. The case was among those handled by Dr Ruziana Masiran, Consultant Psychiatrist and Senior Lecturer at the Child & Adolescent Psychiatry Clinic, Hospital Sultan Abdul Aziz Shah, Universiti Putra Malaysia (UPM). Speaking to Bernama, Dr Ruziana shared that following six family therapy sessions with her mother, Fatiha and her mom have begun learning to communicate more openly and understand each other's emotions. 'Their relationship is now much closer. Fatiha has become cheerful again and is gradually making academic and co-curricular progress that her mother is proud of. 'Although she initially required medication, she no longer needs it and currently attends only follow-up sessions at the clinic,' Dr Ruziana said. GROWING TREND Highlighting the current landscape, Dr Ruziana noted that mental health issues among adolescents in Malaysia are increasingly being recognised as a serious public health concern. She explained that today's teenagers face unique challenges compared to previous generations, making them more susceptible to mental health struggles. 'The impact of the COVID-19 pandemic cannot be overlooked. Isolation during lockdowns between 2020 and 2021, school closures, and mounting financial pressures within families have all contributed to mental health issues that persist to this day,' she said. Dr Ruziana added that the prolonged isolation also deprived many adolescents of crucial social development milestones during a formative stage in their lives. She pointed out that digital and social media have become dominant forces in the lives of teenagers, encouraging constant online connectivity, which in turn fuels anxiety linked to the 'fear of missing out' (FOMO) and exposes them to cyberbullying. 'Excessive screen time negatively affects sleep quality, lowers self-esteem, and contributes to body image concerns as teens frequently compare themselves to others online. 'This pervasive digital lifestyle has significantly reduced meaningful, real-world social interactions, which are essential for emotional growth,' she said. When asked about contributing factors to adolescent mental health issues, Dr Ruziana cited several, including biological elements. She explained that the teenage brain—particularly the prefrontal cortex, which is responsible for emotional regulation and decision-making—is still in development. 'Socially, teenagers navigate a range of daily stressors, whether at home or in school. These include academic pressure, examinations, fatigue, and comparisons with peers. Some also endure physical or emotional bullying,' she said. Within the family context, she noted that poor communication and a lack of emotional support are significant contributors to emotional distress. 'Many teenagers who show signs of depression or anxiety often do so in response to unresolved family issues,' Dr Ruziana said, adding that ongoing family conflicts—including divorce, abuse, neglect, or parents with untreated mental illness—can have a profound impact on a teenager's mental well-being. STUDIES According to Dr Ruziana, data from the National Health and Morbidity Survey (NHMS) and various local studies reveal a concerningly high prevalence of mental health issues among Malaysian teenagers. 'The NHMS 2022 found that one in four adolescents aged 13 to 17 exhibited symptoms of depression, anxiety, or stress. The transition from lower to upper secondary school is identified as a particularly vulnerable period,' she said. She noted that teenagers with low self-esteem, poor emotional regulation, learning difficulties, chronic illnesses, or physical disabilities are at significantly higher risk of developing mental health problems. The survey also highlighted that teens from families experiencing parental mental illness, single parenthood, persistent marital conflict, or domestic violence are more prone to emotional and psychological struggles. 'Parents who are emotionally unstable, depressed, anxious, or aggressive can hinder their child's emotional development. When teens don't feel safe at home, they're less likely to open up about their problems. This leads to emotional suppression, isolation, and a growing sense of hopelessness,' she explained. "Economically, studies show that low-income families (the B40 group) have limited access to mental healthcare. In addition, low parental education levels are linked to a lack of awareness about emotional needs and communication within the family," she said, adding that mental health issues are more prevalent among teenage girls. Dr Ruziana also noted that environmental factors play a role, with teenagers living in urban areas found to be at higher risk of emotional stress due to greater academic pressure, excessive screen time, increased exposure to social media, and a lack of physical activity. REDUCING DEPENDENCY ON MEDICATION While medication is often a key part of treating mental health conditions—particularly among teenagers—Dr Ruziana believes it is time to reduce this dependency. She stressed that psychiatric care should be holistic, addressing all aspects of a patient's life rather than focusing solely on pharmaceutical intervention. 'People need to understand that not every teenager with mental health issues requires medication—only those in truly critical need. 'Psychiatrists also examine other important factors such as parenting styles, family dynamics, and school environments, all of which greatly influence a teen's emotional well-being and behaviour,' she said. Dr Ruziana urged Malaysian society and families to shift away from viewing medication as the only remedy for mental illness. 'Medication can be helpful, but it's not the only solution for emotional or behavioural issues in children. Many families in Malaysia have witnessed meaningful changes after undergoing family therapy. Teens who previously struggled to regulate their emotions often show improvement after just a few sessions. 'As parents begin to understand the pressures their children face, relationships tend to grow closer. This proves that with mutual support and cooperation, many issues can be resolved in a healthy and harmonious way—without complete reliance on medication,' she added. THE NEED FOR FAMILY THERAPY Expanding on the issue, Dr Ruziana stressed that it is time for family therapy to be recognised as a key alternative in addressing teen mental health challenges in Malaysia. She said the country must strengthen the role of family therapy within its healthcare system, as many mental health issues among adolescents are rooted in strained family relationships. 'Many teens don't just need individual treatment—they need the support of a compassionate and understanding family. In a country like Malaysia, where family values hold deep significance, this approach is not only culturally appropriate but also more sustainable in the long run,' she explained. By promoting family therapy, she added, the healthcare system can address the mental health of teenagers more holistically while also reinforcing the family institution. This, she noted, aligns with the Malaysia MADANI vision, which upholds strong family relationships, mental well-being, and social harmony. Dr Ruziana said family therapy involves all members of a household to better understand and support the affected teenager. 'Often, when one teen shows signs of mental distress—be it depression, anxiety, or anger—it's connected to underlying stress at home, miscommunication, or unresolved family conflict. 'Through family therapy, each member learns how to listen, express emotions constructively, and solve problems collaboratively. It gives parents and siblings insight into what the teen is truly experiencing,' she said. She added that family therapy typically involves six to 12 sessions, held weekly or biweekly, and may include extended family such as grandparents, uncles, or aunts. 'Ideally, everyone in the household should take part. Some families may require more sessions depending on the severity of issues. The therapy is structured—starting with introductions, followed by assessments and targeted interventions, and concluding once tangible improvements are seen,' Dr Ruziana said. The ultimate goal, she emphasised, is to create a more cohesive and nurturing home environment. 'When supporting a child, we cannot ignore the broader family dynamics—how parents communicate, discipline, show affection, or give attention. These all play critical roles in a child's emotional health,' she said, expressing hope that more family therapists will be trained in line with the Malaysia MADANI values of compassion, humanity, and family strength.
