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UAE: Rare disease baby, 44 days old, receives lifesaving shot.

Photo-Khaleej Times

In the UAE, a 44-day-old infant diagnosed with spinal muscular atrophy type 1 (SMA 1), a rare genetic disease, has received a life-saving Zolgensma injection, one of the most expensive drugs globally. The successful treatment was facilitated by early detection and collaboration between Burjeel Hospital, Abu Dhabi, and local authorities. Baby boy H. Al Ameri's journey began when his vigilant mother noticed unusual signs shortly after his birth, prompting medical consultation. Dr. Hussein Nasser Matlik, consultant pediatric neurology at Burjeel Hospital, advised swift treatment, emphasizing SMA 1's severe prognosis without intervention. SMA 1, characterized by a deficiency in the SMN protein crucial for motor neuron function, leads to muscle weakness and loss of movement.

Zolgensma, administered as a one-time gene therapy, aims to replace the faulty SMA gene, allowing the body to produce sufficient SMN protein. Despite potential side effects like liver problems and low platelets, precautions were taken before administering the drug, including steroid treatment and close monitoring of liver enzymes and blood tests. The medical team remains optimistic about the child's prognosis, expecting him to lead a normal life if the treatment is successful.

Initially hesitant about the medication, the child's parents were reassured by other families' positive experiences. Two weeks post-treatment, improvements were observed, with the baby being weaned off oxygen support and showing progress in motor movements. The family expresses gratitude for the UAE's healthcare system, the medical team's support, and their faith in overcoming challenges.

Overall, the successful treatment highlights the importance of early detection, collaboration, and advanced medical interventions in managing rare diseases like SMA 1, offering hope to affected families in the UAE.

March 6, 2024 1:18 p.m. 21813

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