44-day-old baby with rare disease gets life-saving injection
A 44-day-old infant diagnosed with spinal muscular atrophy type 1 (SMA 1), a rare genetic disease, has received a life-saving injection of Zolgensma, a costly yet effective treatment. Thanks to early detection and collaborative efforts between Burjeel Hospital, Abu Dhabi, and local authorities, the baby, H. Al Ameri, received timely medical intervention.
The journey began when the infant's mother, L. Al Ameri, noticed unusual signs after his birth, prompting concern. The family sought medical advice, leading to genetic testing revealing SMA 1, a potentially fatal condition. Dr. Hussein Nasser Matlik, a consultant paediatric neurology at Burjeel Hospital, emphasized the urgency of treatment, given SMA 1's high fatality rate within the first year without intervention.
Dr. Matlik explained Zolgensma's mechanism as a one-time gene therapy addressing the root cause by replacing the faulty SMA gene. Despite potential side effects, including liver issues and low platelets, precautions were taken before administration. The medical team closely monitored the child's response and planned further treatment based on his progress.
Initially hesitant, the parents were reassured by other families' experiences and proceeded with treatment. Two weeks post-treatment, the baby showed promising improvements, such as weaning off oxygen support and exhibiting better motor movements. The family expressed gratitude for the support received and remained optimistic about their child's future milestones.
By: Sahiba Suri
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