logo
Early detection of ‘bubble boy disease' helps save lives of newborns

Early detection of ‘bubble boy disease' helps save lives of newborns

Straits Times3 days ago

Mannat Singh was only six days old when he was diagnosed with Severe Combined Immunodeficiency (SCID). ST PHOTO: NG SOR LUAN
Medical Mysteries Early detection of 'bubble boy disease' helps save lives of newborns Medical Mysteries is a series that spotlights rare diseases or unusual conditions.
SINGAPORE – Mannat Singh was only six days old when he was diagnosed with Severe Combined Immunodeficiency (SCID).
This meant that he was born without a functioning immune system, making him highly vulnerable to even the common flu. Without treatment, Mannat would not have made it past his first birthday.
His mother Harminder Kaur, 39, a nurse, recalled the guilt and fear she felt 'because I made him this way'.
SCID is a rare life-threatening genetic disorder that affects one in 50,000 babies worldwide, with one new case born in Singapore every two years.
'It did not help our state of mind when his odds were stacked against him,' said her husband Harminder Singh, 39, an IT consultant.
It is also known as the 'bubble boy disease' after David Vetter, an American boy with the disease who captured the world's attention for living all his life in a sterile plastic enclosure – his 'bubble'.
At the time of his birth in 1971, a bone marrow transplant from an exact matched donor was the only cure for SCID, but there was no match available in David's family.
In 1984, four months after receiving a bone marrow transfusion via a new technique, the 12-year-old died from lymphoma, a cancer later traced to a dormant Epstein-Barr virus in the donor bone marrow.
As for baby Mannat, he had Artemis SCID, a rare form of recessive radiosensitive SCID, which meant he could not be treated with radiation or have certain scans done.
Mannat Singh was born without a functioning immune system, making him highly vulnerable to even the common flu.
ST PHOTO: NG SOR LUAN
Memories of what the couple went through with their younger son brought back tears to Mr Singh, who said: 'We were prepared to do whatever we could to give Mannat the best chance at life. We took a step at a time, discussing putting him on chemotherapy and deferring to the experts.'
Fortunately for Mannat, his condition was picked up at the KK Women's and Children's Hospital (KKH) through the National Expanded Newborn Screening (Nens) programme.
The programme, which started in 2006 with the aim of screening all babies born in Singapore for metabolic and heritable diseases, was expanded in 2019 to include five other treatable serious childhood-onset conditions such as SCID and cystic fibrosis.
In 2024, all newborns at KKH were screened under Nens, while the national screening rate in Singapore is 96 per cent. This involves pricking the baby's heels to collect a blood sample between 24 and 72 hours after birth.
Screening for SCID involves checking the baby's bloody for DNA fragments called T-cell receptor excision circles (Trecs), which show that the immune system is making T-cells properly, said geneticist from KKH Ting Teck Wah.
The test does not confirm an SCID diagnosis, but abnormalities such as low or absent Trecs signals that the baby needs to go through more testing, he said.
After screening almost 178,000 babies since 2019, Nens has picked up two babies positive for SCID, Dr Ting added.
Dr Bianca Chan, a consultant with the rheumatology and immunology services at KKH, said the only real curative treatment for SCID is a bone marrow transplant from a healthy donor. Stem cells from the bone marrow from a health donor can develop into infection-fighting T-cells, helping babies with SCID build a functioning immune system.
'The highest success is when it is performed within the first three to four months of life, before the baby develops significant infections. This makes SCID screening at birth crucial for early diagnosis to actively prevent infection,' she said.
Dr Chan added that if the baby has an active infection before the transplant, its survival rate even with transplant is only 50 per cent 'because it becomes very, very difficult to have a successful transplant'.
Mannat Singh and parents Harminder Kaur and Harminder Singh, with KKH doctors (back row, from left) Dr Michaela Seng, Dr Ting Teck Wah and Dr Bianca Chan.
ST PHOTO: NG SOR LUAN
Dr Michaela Seng, a senior consultant with the haematology and oncology service at the hospital, said a programme is immediately put in place to protect the child from infections before doctors prepare for donor selection.
'We meet the parent to explain the implications of the diagnosis and tell them they are typically appropriately suitable as potential donors. We also go through the process of harvesting and processing the donor stem cells, how the lab then receives these stem cells ... and prepare small bags of what we call memory T-cells that help fight infection,' she said.
'During this time, the baby, is admitted to the transplant unit and undergoes complete isolation. For seven days, he is given conditioning therapy, which is chemotherapy that is tailored to the size and the weight of the baby to allow us to clear unnecessary cells that would prevent successful engraftment of the donor stem cells. The donor cells are then infused, and we wait for the transplant to take effect,' she added.
Mannat became the first newborn in Singapore to have his SCID diagnosed at birth and the first to receive a stem cell transplant – from his mother's bone marrow – before the symptoms emerge.
Today, at 19 months, Mannat is healthy and asserting himself with his parents and older brother Birakaal, aged four.
'I feel now that life has returned to normal and we have put the past behind us. We are now looking forward to having the boys grow up healthy and happy,' Ms Kaur said.
Join ST's WhatsApp Channel and get the latest news and must-reads.

Orange background

Try Our AI Features

Explore what Daily8 AI can do for you:

Comments

No comments yet...

Related Articles

Kennedy's new vaccine adviser was expert witness against Merck vaccine
Kennedy's new vaccine adviser was expert witness against Merck vaccine

Straits Times

time5 hours ago

  • Straits Times

Kennedy's new vaccine adviser was expert witness against Merck vaccine

FILE PHOTO: U.S. Health and Human Services (HHS) Secretary Robert F. Kennedy Jr. attends a Senate Health, Education, Labor & Pensions Committee hearing on the Department of Health and Human Services budget, on Capitol Hill in Washington, D.C., U.S., May 14, 2025. REUTERS/Leah Millis One of the new vaccine advisers picked by U.S. Health Secretary Robert F. Kennedy Jr. has earned thousands of dollars as an expert witness in litigation against Merck's Gardasil vaccine, court records show. Martin Kulldorff, a biostatistician and epidemiologist who publicly criticized COVID-era lockdowns, is one of eight new members named by Kennedy on Wednesday to the Advisory Committee on Immunization Practices, a highly influential panel that recommends which shots should be administered to the American public. Kennedy fired the entire previous 17-member committee of expert vaccine advisers this week, claiming they were "plagued with persistent conflicts of interest" from financial ties to drugmakers. The departing experts say their work was subjected to rigorous vetting and rules for recusal for any conflict. Kulldorff recently served as an expert witness for plaintiffs who accused Merck of concealing the risks of Gardasil, a vaccine for the prevention of cancers caused by human papillomavirus (HPV). In March, a federal judge in North Carolina ruled in favor of Merck in one of those cases that included about 200 lawsuits. At a deposition in October, Kulldorff testified that the plaintiffs paid him $400 an hour and he had already billed for about $33,000 in legal work on the case through late September. He said he also received a $4,000 retainer in the North Carolina case, according to court documents. Kulldorff is also listed as an expert witness in a similar case pending against Merck in Los Angeles state court, records show. Under ACIP's rules, committee members cannot serve as a "paid litigation consultant or expert witness in litigation involving a vaccine manufacturer" during their tenure on the panel. Prior work as an expert witness against drugmakers may require a waiver from the U.S. Centers for Disease Control and Prevention and recusal from votes involving Merck and HPV vaccines. The agency has said in its rules it "will generally consider issuance of waivers in specific situations." Kulldorff and plaintiffs lawyers in the Merck case did not immediately respond to a request for comment. Merck declined to comment. A spokesman for Kennedy's Health and Human Services Department said on Wednesday that "all newly appointed ACIP members were thoroughly vetted." HHS did not immediately respond to a request for comment on Kulldorff. KENNEDY AND GARDASIL Before joining the Trump administration, Kennedy was a longtime plaintiffs' lawyer and played an instrumental role in organizing mass litigation against Merck over its Gardasil vaccine, which brought in sales of $8.58 billion in 2024. The shot is recommended as a routine immunization for 11 and 12-year-olds by the CDC to prevent cervical and certain head and neck cancers caused by the virus. Kennedy's work on the Gardasil case drew attention from Congress during the confirmation process for health secretary. Kennedy said he would divest his financial interest in that litigation to his non-dependent, adult son. In a post on X, Kennedy praised Kulldorff as a "leading expert in vaccine safety and infectious disease surveillance." He also cited his previous service as a government adviser, including on a vaccine safety subgroup assisting the full ACIP board. Kulldorff gained prominence during the COVID-19 pandemic as a co-author of the Great Barrington Declaration in October 2020, which called on public health officials to roll back lockdowns, arguing they were causing irreparable harm. One of his co-authors was Dr. Jay Bhattacharya, who now serves under Kennedy as National Institutes of Health director. Kulldorff wrote a 29-page report on Gardasil that was filed on January 6 in the North Carolina case. His conclusion was that Merck had "not done an appropriate job evaluating potential safety problems" related to the shot. He also highlighted his prior service on ACIP's vaccine safety working groups. Gardasil was approved in the U.S. in 2006 after going through clinical trials to prove its safety and efficacy. "I have served on two CDC ACIP vaccine safety working groups, concerning the measles-mumps-rubella-varicella (MMRV) and COVID vaccines," Kulldorff wrote. He also wrote in his litigation report that he developed some of the methods that are used "by FDA and CDC in their routine post-market vaccine safety surveillance work." REUTERS Join ST's Telegram channel and get the latest breaking news delivered to you.

Kennedy's ouster of US vaccine advisers puts pharma ties under scrutiny
Kennedy's ouster of US vaccine advisers puts pharma ties under scrutiny

Straits Times

time11 hours ago

  • Straits Times

Kennedy's ouster of US vaccine advisers puts pharma ties under scrutiny

FILE PHOTO: U.S. Health and Human Services (HHS) Secretary Robert F. Kennedy Jr. testifies before a Senate Health, Education, Labor & Pensions Committee hearing on the Department of Health and Human Services budget, on Capitol Hill in Washington, D.C., U.S., May 14, 2025. REUTERS/Leah Millis/File Photo U.S. Health Secretary Robert F. Kennedy Jr.'s surprise ouster of a national vaccine advisory board, claiming it was "plagued with persistent conflicts of interest," puts new scrutiny on the group that recommends which shots should be administered to the American public. Kennedy said most vaccine experts on the 17-member Advisory Committee on Immunization Practices (ACIP) have received "substantial funding" from drugmakers. He did not provide examples of conflicts of interest for any individual adviser or say how that may have influenced specific recommendations. Committee members say their work with the U.S. Centers for Disease Control and Prevention follows rigorous vetting of their financial ties. They must abstain from votes on any vaccine for which they have a conflict, as well as any rival to that vaccine or any product from the same manufacturer, according to CDC rules. The agency's website lists one of the departing panel members as recusing herself over such conflicts. "To determine that the whole (advisory board), all 17 members, have conflicts of interest, that has not been shown by the evidence," fired board member Dr. Oliver Brooks told Reuters. "However, the decisions that have been made (by Kennedy) undermine confidence in the process and in vaccines." Six of the vaccine advisers fired by Kennedy received a total of $80 or less from drugmakers from 2017 to 2023, according to a Reuters review of the Open Payments federal database of industry payments to healthcare providers. Seven other panel members received between $4,000 and $55,000 from drugmakers for consulting, speaking fees, travel or meals over the period 2017 to 2023. Two of those experts had also worked with other scientists in industry-funded research projects worth several millions of dollars. Brooks, retired chief medical officer at Watts Healthcare in Los Angeles and former president of the National Medical Association, received nearly $44,000 in general payments from Sanofi, according to the government records. Most of the payments occurred in 2017 and 2018, with nothing after 2020. Brooks became a vaccine adviser in 2021, and did not disclose any conflicts that would preclude him from voting. He said the panel's sole aim is "to prevent vaccine-preventable illness." Sanofi declined to comment. At least three vaccine advisers were not health professionals tracked by mandatory Open Payments reporting. KENNEDY'S CONFLICT Kennedy, who has spent years sowing doubts about vaccine safety and efficacy contrary to scientific evidence, faced questions from Congress about his own potential conflicts of interest during a confirmation hearing. Kennedy said he would divest his financial interest in litigation against Merck over its Gardasil vaccine, which prevents cancers caused by the human papillomavirus, to his non-dependent, adult son. In posts on X this week, Kennedy said he would share "examples of the historical corruption at ACIP" and announced eight new panel members. Four of them had received nominal reimbursement for meals, according to Open Payments, while the remainder recorded no payments or weren't covered by the database. A 2009 federal inspector general's report criticized the CDC for lax enforcement of disclosures among its advisory panels. New research shared with Reuters suggests conflicts have since declined among vaccine board members. "People are more aware of these issues on advisory committees, so they're facing greater scrutiny there," said Dr. Genevieve Kanter, an associate professor of public policy at the University of Southern California who has studied conflicts among government health advisers. Kanter's analysis of vaccine panel disclosures found that, on average, 43% of panel members facing decisions on specific vaccines declared conflicts in 2000 compared to 5%, on average, at meetings over the last 10 years. Kanter said it will also be important to understand how the vaccine advisers assembled by Kennedy are vetted for conflicts. They are due to meet at the end of June. "We don't want to replace one conflict with another set of conflicts," she said. "If someone has a financial interest in treatments that are believed to be alternatives to vaccines for certain conditions, we want to know that." DISCLOSURE RULES ACIP members are required to divest all stock in vaccine makers and stop any active consulting work for those companies before joining the panel. They can't accept travel or food from vaccine companies or collect product royalties. Similar restrictions apply to family members. Committee members can keep working on vaccine clinical trials funded by industry and those research grants can help cover their salaries. They are required to file annual disclosures and recuse themselves from votes when specific conflicts arise. "ACIP members ... are carefully screened for major conflicts of interest and selected through a lengthy process," said the California Department of Public Health, whose immunization chief, Dr. Robert Schechter, was fired from the panel by Kennedy. One of the fired panel members, Dr. Bonnie Maldonado, is a pediatric infectious diseases specialist at Stanford University who has led vaccine studies worldwide. She participated in research that received $4.65 million in funding from Pfizer, most of it spanning 2021 to 2023. The studies involved vaccines for COVID-19, RSV and other diseases. Maldonado also received general payments from drugmakers, including $26,465 from Pfizer and nearly $7,000 from Merck. Maldonado abstained from a vote on COVID vaccine recommendations in June 2024, declaring a conflict of interest. In October, she did participate in a COVID-related vote. Maldonado didn't respond to a request for comment. Noel Brewer, a professor of public health at the University of North Carolina, is not a clinician and therefore not included in Open Payments. In a 2017 research paper, he disclosed receiving research grants from Merck, Pfizer and GSK and serving on a paid advisory board for Merck. The disclosures did not give details on the payment amounts. Spokespeople for the three vaccine makers were not immediately available for comment. REUTERS Join ST's Telegram channel and get the latest breaking news delivered to you.

Trump's cuts are ‘devastating' for vulnerable women worldwide: UN
Trump's cuts are ‘devastating' for vulnerable women worldwide: UN

Straits Times

time3 days ago

  • Straits Times

Trump's cuts are ‘devastating' for vulnerable women worldwide: UN

The withdrawal of the US from the funding arena for reproductive health has been devastating, said UNFPA chief Natalia Kanen. PHOTO: AFP NEW YORK - The United Nations Population Fund (UNFPA) has faced budget cuts before, but the impact of US President Donald Trump's policies has been even more 'devastating' for reproductive health worldwide, chief Natalia Kanem told AFP. The agency has been targeted by US conservatives since the Kemp-Kasten Amendment's enactment in 1985 by Congress, when the administration of then president Ronald Reagan rallied against China's population policies, accusing Beijing of promoting forced abortions and sterilisations. All subsequent Republican presidencies have cut US funding to UNFPA, and the second Trump administration is no exception. 'We've had over US$330 million (S$424.78 million) worth of projects ended,' virtually overnight, in 'some of the hardest hit regions of the world' like Afghanistan, Ms Kanem said in an interview coinciding with the release of the UNFPA's annual report on June 10. 'So yes, we are suffering.' Ms Kanem pointed to the Zaatari refugee camp in Jordan as an example, where over the years more than 18,000 pregnancies were delivered by 'heroic midwives' who 'conducted these over 18,000 deliveries without a single maternal death, which you know, in a crisis situation is extraordinary.' 'Those maternity wards today have closed. The funding cuts immediately have meant that those midwives are no longer able to do their jobs,' Ms Kanem said. Although it is too soon to estimate the precise impacts of the US cuts, they will inevitably result in increased maternal mortality and more unintended pregnancies, according to Ms Kanem. 'What's different this time for UNFPA is that our ecosystem of other reproductive health actors who might be able to fill in for us,' Ms Kanem said, adding they are 'reeling from huge impact of having their funding denied.' The Trump administration has slashed many such external aid programmes. 'So it is very lamentable that this year, to me, has been drastically worse than ever before, precisely because now everybody is caught up in the whirlwind.' 'The withdrawal of the United States from the funding arena for reproductive health has been devastating,' Ms Kanem said. Desire and rights American policy is not only marked by funding cuts, but also a challenge to gender equality matters. 'There will be debates about concepts, but there shouldn't be any debate about the non-negotiability of the rights and choices of women and adolescent girls,' Ms Kanem emphasised. 'We always embrace change, but we should not compromise on these common values which spell the difference between life and death for women and girls all around the world,' she continued. 'Women deserve support. Adolescent girls deserve to finish their schooling, not become pregnant, not be bartered or sent off into marriage as a non-solution to issues that families may face.' The UNFPA's annual report, published on June 10 and based on the results of a survey of 14,000 people from 14 countries – nations which represent over a third of the world's population – also underscores concerns that millions of people around the world cannot create the families they desire. More than 40 per cent of those over the age of 50 reported not having the number of children they wanted – with 31 per cent saying they had fewer kids than they desired and 12 per cent saying they had more than they wanted. More than half of respondents said economic barriers prevented them from having more children. Conversely, one in five said they were pressured into having a child, and one in three adults reported an unintended pregnancy. The majority of people 'live in countries where fertility rates have fallen so far and so fast that they are below replacement,' Ms Kanem said. 'We know that the issue of population pressure takes almost like a headline drastic view. Some people think there are way too many people. Others are saying we don't have enough, women should have more babies,' Ms Kanem said. 'What UNFPA really cares about is a woman's true desire, rights and choices,' she said. AFP Join ST's Telegram channel and get the latest breaking news delivered to you.

DOWNLOAD THE APP

Get Started Now: Download the App

Ready to dive into the world of global news and events? Download our app today from your preferred app store and start exploring.
app-storeplay-store