Gene therapy helps baby boy defy the odds

Parents naturally hope for their children to grow up healthy. However, the parents of a baby boy faced immense anxiety when they discovered their son had muscle weakness just two weeks after birth and was diagnosed with spinal muscular atrophy (SMA) type 1. Initially, this baby boy received Nusinersen for his SMA. At 10 months old, he became the first child in Hong Kong to undergo gene therapy. Dr Sophelia Chan (photo on the left), the attending Paediatric Neurologist, is delighted with his progress, and says, “he recently learned to shake hands, stand up with assistance, and sit alone playing with the computer keyboard. He is truly an adorable baby.”

Dr Chan, Honorary Consultant of the Department of Paediatrics and Adolescent Medicine at Hong Kong Children’s Hospital (HKCH) and Clinical Associate Professor at the University of Hong Kong, explains that the baby boy was initially diagnosed with SMA type 1 through newborn screening. For the first two months, he received Nusinersen via lumbar puncture every two to four weeks, followed by similar intrathecal injections every four months. In the months that followed, the baby boy could roll over and sit on his own. Dr Chan recalls, “when the family learned that gene therapy was available in Hong Kong and their son had the opportunity to receive this therapy, they were excited as it is a one-time treatment.” Gene therapy is typically suitable for infants who are six months or younger and display either no symptoms or mild symptoms. Infants between seven to 12 months old require separate evaluations, and those with liver dysfunction or antibodies against the viral vector cannot receive this therapy.

SMA is a severe condition. Before the availability of SMA treatment, many of Dr Chan’s patients required long-term ventilator support, gastrostomy feeding, on wheelchair and experienced severe spinal curvature. Despite these challenges, her patients often display remarkable talent and brightness, excelling in academic and recreational activities, particularly in art. Dr Chan emphasises the importance of parental determination to provide the best-unlimited life to their children, which inspires healthcare professionals to offer the best support to their kids.

With universal SMA newborn screening in public hospitals, early diagnosis is now possible, allowing prompt initiation of treatment even before symptoms appear or while they are still mild. Dr Chan passionately emphasises, “as healthcare professionals, we must race against time to ensure our SMA babies receive transformative treatment as soon as possible. United with families, we hope all the affected children can grow up healthy and even develop normally with treatment.”

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