UAE: 3-year-old Emirati girl with rare genetic disorder can now sit, walk, go to school

UAE: 3-year-old Emirati girl with rare genetic disorder can now sit, walk, go to school

She was just 3 months when diagnosed with spinal muscular atrophy – a genetic neuromuscular disorder affecting the nerve cells that control voluntary muscles

Published: Wed 16 Nov 2022, 4:41 PM

After more than a year of rehabilitation, doctors at Abu Dhabi Health Services Company (Seha) have helped a three-year-old Emirati girl with a life-threatening genetic disease to sit, walk and join school.

Afra Humaid Yousef Alblooshi was just three months old when she was diagnosed with spinal muscular atrophy (SMA) type 1 – a genetic neuromuscular disorder affecting the nerve cells that control voluntary muscles. Without treatment, symptoms include worsening muscle weakness and poor muscle tone and may result in eating and breathing problems.

In April 2021, Afra became one of the first patients to receive a revolutionary gene therapy called Zolgensma at Seha’s Sheikh Khalifa Medical City (SKMC). Zolgensma is labelled the most expensive drug in the world.

She was referred to Salma Children’s Rehabilitation Hospital in July last year. She was unable to sit, play, swallow or breathe independently. Her CHOP-intend score – the standardised assessment to score the functional level of SMA, was low at 26/64.

Under care offered by Salma’s multi-disciplinary team, Afra began to thrive.

Dr Ashraf Elbatal, clinical lead specialist,