Singapore Teen Overcomes Glutaric Acidemia Type 1 to Excel in Taekwondo and Music

SINGAPORE – Lai Jia Chi, a 15-year-old student at Temasek Junior College, has achieved remarkable feats in both taekwondo and piano, despite living with Glutaric Acidemia Type 1 (GA1), a rare genetic disorder. Diagnosed at the age of three following a severe fever, Jia Chi’s story highlights the importance of early detection and intervention in managing her condition, which can lead to serious health complications if left untreated.

GA1 is an inherited metabolic disorder that affects the body’s ability to metabolize certain amino acids. If unmanaged, it can cause brain damage and movement difficulties. According to Associate Professor Tan Ee Shien, who heads the Genetics Service at KK Women’s and Children’s Hospital, early intervention through dietary management and regular medical monitoring is crucial for those affected. "Without screening and early intervention, the first sign that something is wrong could be a sudden and devastating metabolic crisis, often triggered by a common illness like fever or infection," she explained.

Jia Chi’s journey began when her father, Lai Shu Hau, sought a DNA test after observing alarming symptoms in his daughter. "One night, she became very ill with a high fever. We rushed her to a pediatrician, who then called for an ambulance," he recounted. This incident led to her diagnosis of GA1, which is estimated to affect one in every 100,000 newborns worldwide.

The condition impedes the breakdown of lysine, hydroxylysine, and tryptophan, three amino acids found in protein-rich foods. Consequently, toxic glutaric acid accumulates in the body, posing serious health risks. Early detection allows for a comprehensive management plan, which in Jia Chi’s case involves a strict diet low in protein, special medical formulas, and supplements to maintain her health and prevent complications.

Her parents have invested significant resources into her health, spending approximately $400 per month on medication and supplements. "We measured everything she ate and calculated the percentage of her carbohydrate intake to prevent other diseases such as diabetes," said her mother, Liew Pui Yee, an adjunct lecturer at a polytechnic. The family remains vigilant in managing Jia Chi’s condition, which includes regular metabolic monitoring and emergency protocols during illness.

Despite the challenges, Jia Chi excels in taekwondo, having earned a black belt, and has reached Grade 8 in piano. Her achievements are particularly striking given the potential motor skill impairment associated with GA1. Professor Tan commended Jia Chi’s accomplishments, stating, "These are truly remarkable, especially since GA1 can affect motor skills and coordination. Early detection and appropriate medical care underscore the importance of proactive health management."

Jia Chi herself expressed optimism about her future, stating, "Sometimes I forget I have the condition, especially when I am in taekwondo class." Nevertheless, her journey is a testament to the power of early diagnosis and dedicated management, showcasing how individuals with genetic disorders can lead fulfilling lives through determination and support.

As awareness of metabolic disorders grows, parents and healthcare providers are increasingly emphasizing the significance of newborn screening programs. These initiatives aim to detect conditions like GA1 before any health crises emerge, allowing for timely and effective interventions. The case of Lai Jia Chi serves as both an inspiring narrative and a call to action for enhanced screening and support for affected families.