Recovery from rare genetic disorder encouraging

ABU DHABI: Abu Dhabi Health Services Company (SEHA) highlighted the remarkable rehabilitation of Afra Humaid Yousef Alblooshi, a young Emirati diagnosed with a rare genetic spinal disorder.

Afra was just three months old when she was diagnosed with Spinal Muscular Atrophy (SMA) type 1 - a genetic neuromuscular disorder that affects the nerve cells that control voluntary muscles. Without treatment, symptoms include worsening muscle weakness and poor muscle tone and may result in feeding 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). When she was referred to Salma Children’s Rehabilitation Hospital in July 2021, Afra could not 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 the watchful eye and compassionate care of Salma’s multi-disciplinary team, Afra began to thrive.

Elaborating on Afra’s journey, Dr. Ashraf Elbatal, clinical lead Specialist, Paediatric ICU at Salma Children’s Rehabilitation Hospital, said, “At Salma, we want children to get beter as soon as possible and live normal and healthy lives. With Afra, the team worked meticulously to design medical and therapeutic programmes that would accelerate her recovery.”

“Afra’sphysiotherapistworkedonimprovingand monitoring her muscle power and head control. We had an occupational therapist who helped Afra achieve daily activities such as brushing her teeth or eating independently. Our speech and language pathologist-tailored programmes focused on dysphagia (difficulty swallowing) training and applied VFFS (Video fluoroscopic swallow study) from play therapy to functional oral feeds. Afra was also looked ater by a special needs educator who followed her developmental milestones daily and curated programmes to encourage social interactions. And lastly, Salma’s respiratory therapist, along with our consultant paediatricians, gradually weaned her off the ventilator. She was provided comprehensive care that has resulted in much improvement,” added Marjolein Oosterheert, Therapy Lead at Salma Children’s Rehabilitation Hospital.

Following the 360-degree rehabilitation at Salma, today Afra can breathe on her own, sit without support, walk with the help of a walker, is enrolled in a regular school curriculum, has an optimal Chop-intend score (64/64), and can communicate, swallow, and oral feed independently.