When a rare disorder leaves a toddler struggling to produce energy
Three-year-old Oliver Soh was born healthy but exhibited concerning behaviors early on. His mother noticed a lack of eye contact and seizures when he was three months old. Doctors diagnosed Oliver with primary coenzyme Q10 (CoQ10) deficiency, a rare genetic disorder affecting energy production in cells. The condition's rare East Asian genetic mutation goes undetected by newborn screening.
Oliver's brain lacks CoQ10, leading to developmental delays, epilepsy, and potential issues with hearing, vision, and other organs. The main treatment involves high-dose CoQ10 supplements and anti-seizure medication, with additional therapies and multidisciplinary care to support Oliver's development. Despite the high costs, Oliver's parents remain committed to providing the best life possible for their son.
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