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

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, paediatric ICU, Salma Children’s Rehabilitation Hospital, said the facility strives to help children get better and live a normal and healthy life.

“With Afra, the team worked meticulously to design medical and therapeutic programmes that would accelerate her recovery.”

The physiotherapist worked on improving and monitoring her muscle power and head control.

“We had an occupational therapist who helped Afra achieve daily activities like brushing her teeth or eating on her own. Our speech and language pathologist tailored programmes that focused on dysphagia (difficulty swallowing) training and applied VFFS (video fluoroscopic swallow study) from play therapy to functional oral feeds.”

Afra was looked after by a special needs educator who followed her developmental milestones daily and curated programmes to encourage social interactions.

“Salma’s respiratory therapist along with our consultant paediatricians gradually weaned her off the ventilator. She was given 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, can 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.

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Afra’s mother, Aziza Alblooshi, said: “To see your child unable to even communicate is a challenging thing for any parent. We are so grateful to the entire team at Seha, including SKMC and Salma Children’s Rehabilitation Hospital, who rallied behind our baby to ensure she becomes better and journey towards living a relatively normal life. Watching her today fills my heart with joy and for these moments, I wholeheartedly thank everyone across the Seha network.”

Philipp Mielenz, CEO, Salma Rehabilitation Hospital, said that being part of UAE’s largest healthcare network has helped in providing integrated and coordinated services and meeting comprehensive healthcare needs of our patients.

“In Afra’s case, we are proud to have such an impact on a child’s life with our highly specialised and comprehensive rehabilitation at Salma Children’s Rehabilitation Hospital, after SKMC’s highly experienced teams administered this state-of-the-art treatment.”

To book an appointment at Salma Rehabilitation Hospital, call 800 50 or visit seha.ae or through the Seha Mobile app or WhatsApp on 02-4102200.

• Lifestyle
• Abu Dhabi