
Children with SCID are born defenceless against infections
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.'

Try Our AI Features
Explore what Daily8 AI can do for you:
Comments
No comments yet...
Related Articles

The Star
18 hours ago
- The Star
Keep a safe distance to let langurs thrive, says expert
Vanishing wildlife: The dusky leaf monkey, also known as the spectacled langur or the spectacled leaf monkey, is a species of primate in the family Cercopithecidae. — CHAN BOON KAI/The Star GEORGE TOWN: Although they are now becoming a common sight on rooftops and in gardens, the majestic dusky langurs (Trachypithecus obscurus) are at risk of going extinct if nothing is done to protect their natural habitat. Langur Project Penang (LPP) founder Dr Yap Jo Leen said the primates are now classified as an endangered species on the International Union for Conservation of Nature (IUCN) Red List. She said although dusky langurs have been spotted in and around the forested and residential fringes of northern Penang Island, this does not indicate a growing population. 'With urbanisation, there are more sightings of dusky langurs and other wildlife in housing areas. 'But this only means they have ventured out of their natural habitats and may no longer be living in the forests. 'We need to raise awareness that they are an endangered species. 'It is important to conserve and protect them before our great-grandchildren lose the chance to see them,' she told The Star. Also known as the spectacled langur, the primates can be found across Malaysia, Myanmar and Thailand where they inhabit tropical forests. Yap said the LPP has been working on conservation through science communication to protect dusky langurs and other wildlife. She stressed that it is best not to feed or interact with the primates. 'To safeguard the dusky langurs is to keep a safe distance and respect them. 'If you see them along hiking trails, just use a pair of binoculars or your phone to zoom in and observe them. Avoid any direct contact. 'Unfortunately, some people tend to feed them, which is a big no-no. 'They are not domestic animals. 'The best thing to do is let them find their own food and return to the forest afterwards. 'Urban dusky langurs that live around residential areas rely on plants in neighbourhood gardens or green spaces,' she said. Yap added that leftover food from feeding dusky langurs can draw in other animals, including crows and pigeons. 'It causes waste management issues, which then attract pests. 'This can lead to disease transmission – a negative cycle overall,' she said. LPP, a primate conservation enterprise, is a community science-based outreach and conservation project in Malaysia. The enterprise was behind the installations of two road canopy 'bridges' in Teluk Bahang (Ah Lai's crossing in 2019) and Tanjung Bungah (Numi's crossing in 2024), where treetop animals like the dusky langurs can safely cross busy roads. Yap said the bridges were part of a conservation strategy aimed at reducing human-monkey interaction and preventing monkey roadkill. 'The main purpose is to help them move away from residential areas, as the roads are too risky for them to cross. 'The crossing in Teluk Bahang, for example, is used by many species, including monkeys, reptiles and even birds that perch on it. 'We are installing another bridge in Batu Ferringhi, hopefully by the end of this year or early next year. 'This upcoming bridge will also serve as a tool for ethical and sustainable tourism, environmental education and conservation storytelling,' she said. In 2020, Yap was recognised as one of the 10 winners of the Star Golden Hearts Award, an annual award that celebrates the efforts of Malaysia's unsung heroes. Climate change, hotter weather and temperature fluctuations are other concerns for dusky langurs. 'Based on our research, we have observed changes in their foraging behaviour. 'During hot spells, it becomes harder for them to find water. In urban areas, they have adapted by seeking water from rooftops - such as small pools or drainage points. 'This shows their resilience and ability to adapt to changing environments. 'Dusky langurs work hard every day to meet their dietary and hydration needs. 'Sometimes, they must move beyond their usual range to search for more food, which makes them vulnerable, especially in fragmented habitats like residential areas,' she said.


The Star
a day ago
- The Star
Singapore's national screening programme tests newborns for metabolic and heritable diseases
The screening is a preventive measure to detect health problems before symptoms appear. -- ST PHOTO: VANESSA PAIGE CHELVAN SINGAPORE (The Straits Times/ANN): All newborns at KK Women's and Children's Hospital (KKH) are screened for metabolic and heritable diseases under the National Expanded Newborn Screening (Nens) programme. It is a preventive measure to detect health problems before symptoms appear. The procedure – which is not legally mandated – involves pricking a baby's heels to collect a blood sample between 24 and 72 hours after birth Started in 2006, the programme was expanded in 2019 and now allows more than 40 types of diseases to be detected in newborns. These include: Phenylketonuria, which gives the baby a musty smell and lighter skin and can lead to intellectual disability, seizures, behavioural problems and mental disorders. Glutaric acidemia type 1, which prevents the body from breaking down certain amino acids properly. This leads to a harmful build-up of substances, potentially causing brain damage and movement difficulties Maple syrup urine disease, a rare disorder where the body cannot properly break down certain amino acids, causing a characteristic maple syrup odour Congenital adrenal hyperplasia, where the body does not produce enough of the hormone cortisol, resulting in the inability to keep blood pressure, blood sugar and energy at healthy levels. Nens can also detect other diseases, including five treatable serious childhood-onset conditions such as severe combined immunodeficiency (SCID) and cystic fibrosis. SCID, also known as 'bubble boy disease', is a condition where a baby is born without a functioning immune system. Screening involves checking the baby's blood for DNA fragments called T-cell receptor excision circles (Trecs), which show whether the immune system is producing T-cells properly. These white blood cells play a crucial role in preventing infections. While the test does not confirm an SCID diagnosis, abnormalities such as low levels of or absent Trecs indicate that the baby needs to undergo more testing. In 2024, all newborns at KKH were screened under Nens, while the national screening rate in Singapore is 96 per cent. - The Straits Times/ANN .


The Star
2 days ago
- The Star
Only six specialists for nine million kids
PETALING JAYA: Nine million children with only six specialists in the country – this is the sad reality of paediatric palliative care (PPC) in the country. As terminally ill children and their families quietly endure with minimal support, the crisis is hiding in plain sight. With just six trained specialists nationwide and rising demand, experts like Dr Lee Chee Chan are sounding the alarm for urgent reform and public awareness before more children slip through the cracks. Dr Lee is the only PPC specialist in public healthcare until two others joined this month. 'Our resources are very much stretched thin,' he told The Star. The World Health Organisation defines palliative care for children as 'the active total care of the child's body, mind and spirit ... also involves giving support to the family. It begins when illness is diagnosed, and continues regardless of whether or not a child receives treatment directed at the disease'. The aim of palliative care for children is to ensure the child is comfortable and improve their quality of life. Dr Lee said that benchmarks are based on healthcare needs and the nation is very much below the global standards with 9.13 million children under 18 to six specialists. In the United States, he said that one full-time PPC physician is recommended per 100,000 children. 'For a population of one million children, this would mean needing about 10 physicians,' he said, adding that Malaysia has only one such specialist for 1.5 million children. He said there are only 21 government hospitals in Malaysia where a paediatrician, along with a nurse, has received training as part of the National Training Programme for paediatric palliative care to provide a basic level of paediatric palliative care services. 'There are three children's hospice centres in Malaysia – Jalan Kuching in Kuala Lumpur, Klang in Selangor and Sibu in Sarawak. 'Two more are coming up in Penang and Kota Kinabalu in Sabah in September,' he said, adding that to meet the world estimate of one specialist to 300,000 children, Malaysia would need about 4.5 times more physicians to achieve global average. While countries like Australia and the United Kingdom focus on multidisciplinary teams and equitable access, Malaysia is lacking in that. 'We need to integrate paediatric palliative care into our health system and expand our workforce. 'Unlike adults, where 80% of hospice patients have cancer, only 20% do in children. 'The remaining 80% suffer from rare genetic diseases that affect multiple organs, demanding different and comprehensive support. 'This is why hospice care plays a vital role in supporting families. 'Without hospice services, many children remain in hospitals, risking infection. We provide essential equipment and training to caregivers, allowing children to go home and live as comfortably as possible,' he said. Dr Lee, who is also president of the Malaysian Association of Paediatric Palliative Care (Mappac), pointed out a critical barrier to the development of PPC in Malaysia. 'The sub-specialty isn't fully recognised by the National Specialist Register, and it limits interest among paediatricians and restricts resources,' he said. Recognition requires two training centres with two specialists each, and the process of achieving full recognition involves fulfilling specific criteria set by the National Specialist Register. 'Recognition is essential for attracting more specialists and securing dedicated funding. 'Many still misunderstand this field, associating it solely with end-of-life scenarios. 'Our role is to improve quality of life, whether the child lives for months or years,' he added. Mappac vice-president Dr Ng Su Fang said the association's goal is to expand services to all hospitals and district clinics, ensuring comprehensive support across the country. For the purpose of raising funds, she said a cycling event has been set for tomorrow to help the first children's hospice in Sabah. Covering 600km from Kudat to Kota Kinabalu, the event will see 17 cyclists from Malaysia, Hong Kong, Singapore and America cycling over six days. 'With RM200,000 needed annually, this initiative is crucial for establishing the hospice. A charity dinner will also encourage public donations,' said Dr Ng.