Singapore student Abigail Chua manages rare MERRF syndrome after inheriting genetic condition from mother

MERRF syndrome affects energy production and bone health. Learn how Abigail Chua manages this rare genetic condition through specialized medical care in Singapore.

By: AXL Media

Published: Apr 11, 2026, 5:21 AM EDT

Source: Information for this report was sourced from The Straits Times

A Genetic Legacy Manifesting in Cellular Dysfunction

The diagnosis of Abigail Chua began with persistent leg swelling at age 13, leading to two weeks of intensive medical screening. Physicians ultimately identified Myoclonic Epilepsy with Ragged-Red Fibres (MERRF) syndrome, a rare genetic disorder that targets the nervous system and musculature. According to Dr Koh Ai Ling, a consultant at KK Women’s and Children’s Hospital, the condition compromises the mitochondria, effectively robbing vital organs like the brain of the energy required for basic functionality. The syndrome earns its name from the appearance of abnormal mitochondrial clumps that resemble tattered red threads when viewed under a microscope.

The Inherited Mechanics of Mitochondrial Mutations

Unlike typical DNA inherited from both parents, mitochondrial DNA is passed exclusively from the mother to the child. Dr Koh noted that MERRF syndrome occurs due to a specific mutation that creates mitochondrial dysfunction, though the severity of the illness varies among individuals. This variance is attributed to heteroplasmy, a biological phenomenon where a single cell contains a mix of both healthy and faulty mitochondria. For Chua, the diagnosis was less of a shock and more of a confirmation, as she had grown up witnessing her mother manage the exact same symptoms and medical appointments.

Navigating the Challenges of Neurological Complications

The progression of the disorder has introduced significant neurological hurdles, including brief, shock-like muscle movements known as myoclonic jerks. These involuntary twitches, alongside a general lack of coordination, have placed heavy constraints on Chua's physical mobility. Dr Tan Yee-Leng, a brain specialist at the National Neuroscience Institute, stated that while these seizures are currently managed with anti-seizure medication like levetiracetam, the patient remains highly susceptible to sudden blackouts and accidental falls. This physical instability requires a constant level of caution during daily activities and social interactions.