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A specialised team of paediatric neurologists in Abu Dhabi have successfully treated a 17-month-old Emirati girl diagnosed with a rare genetic disease.
Spinal Muscular Atrophy (SMA) is a group of inherited diseases that damage nerve cells in the spinal cord called motor neurons. This damage increases over time, affecting actions like swallowing, breathing, sitting, and walking. SMA is passed on to children by parents through abnormal genes, with the most common form of SMA caused by an unusual or missing survival motor neuron 1 gene (SMN1 gene).
Doctors at Abu Dhabi’s Sheikh Khalifa Medical City (SKMC) — part of the Abu Dhabi Health Services Company (Seha) network — successfully diagnosed baby Afra with the rare genetic disease. They developed a comprehensive treatment plan to prevent the condition from deteriorating further, including the provision of a particular type of genetic treatment that was imported from abroad specifically for Afra.
Dr Omar Ismail, head of paediatric neurology and paediatric neurology consultant, SKMC, said: “The key to successfully overcoming SMA is early diagnosis and implementation of a vigorous treatment strategy. This is to keep the nerve cells (neurons) as intact as possible and prevent further damage. In Afra’s case, even though she was brought into SKMC quite late with affected limbs, we quickly jumped into action with an inclusive treatment plan that prevented further deterioration of her muscles, while we waited for the required genetic treatment to arrive from abroad. This particularly helped with Afra’s breathing muscles and eliminated the need for an artificial respiratory device.”
The genetic treatment provided to Afra cures the root cause of the disease. The virus vectors target the affected neurons and insert a copy of normal SMN1 gene. Thereafter the muscle will continue to work well, with improving movement and functions.
Afra’s mother said she was making abnormal movements when she was three months old.
“I quickly consulted a paediatric physician in our home emirate. After multiple tests, Afra was diagnosed with SMA and transferred to SKMC, where the medical team examined her thoroughly and implemented a robust treatment plan.”
Dr Mariam Buti Al Mazrouei, chief executive director, SKMC, said: “Thanks to the UAE’s robust and ever-expanding healthcare landscape, we have fast, simple and streamlined access to integral tools and resources from abroad. Afra’s journey towards recovery is a significant achievement, not just for the Seha network, but for the wider healthcare ecosystem in the country, as we provide hope and create impact for families with children diagnosed with SMA.”
Afra’s mother thanked the doctors for saving her daughter: “I am tremendously grateful to the team at SKMC and the wider Seha network for their diligence in treating my daughter.”
— ashwani@khaleejtimes.com
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