It’s easy to assume that a baby who smells as sweet as syrup would be a dream come true. For Madam Felicia Tan, this was exactly the case when her daughter, Elvia, was born in 2019. But beneath the sugary scent lay a hidden health crisis known as Maple Syrup Urine Disease (MSUD), an inherited metabolic disorder that would come to alter the course of Elvia’s young life.
Table of Contents
The Bittersweet Beginnings: When Maple Syrup Scent Conceals Maple Syrup Urine Disease
When Elvia Lim came into the world, her mother, a 36-year-old housewife, felt blessed. Unlike her firstborn son who cried through the night, Elvia was quiet and smelled unusually sweet. In those early days, Tan had no idea that the pleasant scent, resembling maple syrup, was actually a tell-tale sign of Maple Syrup Urine Disease.
Soon, Tan noticed something odd: her newborn was not drinking enough breast milk. Concerned, she turned to the medical team at Thomson Medical, where she had given birth.
After a consultation with a lactation nurse, Tan was urged to rush Elvia to KK Women’s and Children’s Hospital. By the time the newborn reached the emergency room, doctors quickly diagnosed her with Maple Syrup Urine Disease.
Just two weeks old, Elvia was admitted to intensive care.
What is Maple Syrup Urine Disease?
Maple Syrup Urine Disease is a rare genetic condition that affects approximately one in 180,000 babies globally. In Singapore, only three cases have been diagnosed in the last 18 years. The condition prevents the body from properly breaking down certain amino acids, especially leucine, which can build up in the blood and become toxic. Without treatment, this buildup can lead to brain swelling, seizures, intellectual disability, and even death. In severe cases, infants may not survive beyond the first few weeks of life.
Treatment for Maple Syrup Urine Disease is complex and requires a lifelong commitment to a strict, low-protein diet. This diet limits foods containing leucine, an essential amino acid crucial for muscle and bone development.
For Elvia, managing her condition soon became the centre of her family’s world.
Navigating a Medical Maze
Source: The Strait Times/Felicia Tan
Initially, Elvia’s parents focused on keeping her leucine levels down through diet. However, her health journey became more complicated. At three months old, Elvia was diagnosed with laryngomalacia, a disorder that affects the airway and makes feeding difficult. Due to her MSUD, her symptoms of laryngomalacia went unrecognized for some time, delaying her treatment.
The solution? A gastrostomy tube to bypass the airway and deliver food directly to her stomach. Yet, this solution came with its own set of challenges, including hospital visits and multiple instances of infection.
It was during one of these stays that Tan and her husband, Andy Lim, learned of an alternative treatment: a liver transplant. The procedure could offer Elvia a life with fewer dietary restrictions and, potentially, a much lower risk of complications. Although the idea of a transplant was daunting, they decided to pursue it to improve her quality of life.
The Journey to Transplant
The wait for a liver donor was long and emotionally exhausting. Elvia’s parents were ineligible to donate due to genetic compatibility issues, meaning she had to rely on an altruistic donor. For eight months, the family juggled regular hospital visits, waiting for a match, and dealing with Elvia’s nutritional challenges. When a suitable donor was finally found, Elvia underwent a 10-hour liver transplant operation in 2022 at the National University Hospital (NUH).
Source: The Strait Times/Felicia Tan
Dr. Vidyadhar Mali, who led the transplant team, explained that the new liver would need to begin functioning immediately to prevent a metabolic crisis. Thanks to a specially designed nutritional formula and the dedicated efforts of the surgical team, the transplant was successful. With her new liver, Elvia now has better prospects for a healthier life, though she will need immunosuppressive medication for life.
Life After Transplant
Today, Elvia is a thriving five-year-old. She has embraced life in a way her parents once thought impossible, attending preschool and playing with friends. Other than avoiding foods with probiotics, she eats just like other children. Her mother, who once knew her as her “little sweet-smelling angel,” now affectionately calls her a “little hungry monster,” thanks to her newfound appetite.
The transplant, however, doesn’t mark the end of her challenges. While her diet is far less restricted than before, she still faces risks, primarily infections that could be life-threatening due to her immunosuppressive medication. As with any child post-transplant, her parents must remain vigilant, avoiding raw foods and adhering to strict hygiene practices to keep her safe.
Parenting Through Medical Complexities
For parents like Tan, raising a child with a rare condition like Maple Syrup Urine Disease demands both emotional and physical resilience. The initial symptoms may seem mild or unremarkable, which is why early screening is crucial. For a relatively small fee, newborn screening can help detect potentially life-threatening conditions like MSUD before symptoms become severe.
The emotional journey for parents is often overlooked. Tan, like many mothers of children with chronic conditions, found herself racked with guilt, constantly questioning her decisions. But through the support of a dedicated medical team and a resilient family, she has managed to turn this struggle into a source of strength for herself and her children.
What Can You Do as a Parent?
Source: The Strait Times
If you’re a parent-to-be, consider early newborn screening to give your child the best chance at a healthy start. Don’t be afraid to ask for second opinions or request specific tests if something feels off. Advocate for your child, even if it means challenging medical advice because no one knows your child better than you.
The Power of Parental Advocacy
In a city as health-conscious as Singapore, Elvia’s journey with Maple Syrup Urine Disease is both a cautionary tale and a tribute to the sheer resilience of parenthood. When Madam Felicia Tan cradled her newborn daughter and caught that unexpectedly sweet scent, she had no idea she’d soon be plunged into a medical marathon. But it’s these stories that highlight the relentless strength parents summon when their child’s well-being is on the line.
So here’s the takeaway: when the stakes are high, your voice as a parent can move mountains. And if you ever find yourself in uncharted medical waters, remember you’re not alone—families like Tan’s are navigating their own battles and emerging stronger, one day at a time.
Stay informed, stay fierce, and never underestimate the power of fighting for your child.
ALSO READ
Pregnancy Urine Colour: Here’s What It Can Indicate About Your Health
Cancer-Killing Protein in Breast Milk Breaks Down Tumours that Patients Can Pass Through Urine