Emirati twins given new chance of life thanks to gene therapy

Hamdan and Abdel Aziz taken off breathing ventilator and call out 'Baba'

Hearing a child’s first words is a landmark moment for any new parents.

But for the parents of Emirati twins it was an extra special moment when little Hamdan uttered the word "Baba"’ to his parents, marking the end of a miraculous journey.

When they were three months old, Hamdan and his brother Abdel were found to have spinal muscular atrophy, a rare neuromuscular disorder that can be fatal because it impairs breathing and swallowing.

At Burjeel Hospital in Abu Dhabi, the twins recently celebrated the end of a course of gene therapy – and their first birthday – that will change their lives. The boys spent the past six months at the hospital receiving care, and were released this week.

“We reached a point where we had lost all hope,” said Rashid Al Hassani, the father of the boys.

“Thank God there has been a noticeable improvement in movement after the treatment.

“Not only have they started making sounds, but they are also managing to feed.”

While difficult to predict, almost all children (95 per cent) with spinal muscular atrophy have a life expectancy of less than 18 months without pharmacological treatment.

The disease is thankfully rare, and occurs in about one in 10,000 newborns.

A genetic test confirmed both babies had SMA1, a neuromuscular disease caused by a defective or missing survival motor neurone (SMN1) gene.

Both boys were placed on a ventilator to aid their breathing and required constant care.

Hamdan and Abdel received AVXS-101 (onasemnogene abeparvovec) gene therapy designed to target the missing SMN1 gene by delivering a functional copy to make enough proteins necessary for nerve function.

Gradual improvements to the twins’ motor skills, head and hand movements offered doctors a glimpse that their treatment would be a success. Both are now breathing unaided.

“There are remarkable improvements in both Hamdan and Abdel Aziz,” said Dr Hussein Nasser Matlik, a paediatrician and child neurologist.

“The most important change is that they are able to breathe normally without oxygen support.

"They can now maintain head control and are even sitting for a few seconds without support.

“All these achievements are not usually seen in one-year-old SMA patients without treatment.”

While the medical professionals will continue monitoring the improvement in motor development, the next course of action is to provide the twins with good rehabilitation support.

Through physiotherapy and occupational therapy, the focus will be on helping them to develop strength and the ability to move.

Although the condition is rare, Dr Matlik urged parents to pay close attention to the warning signs of SMA1, which include lethargy and a lack of movement.

“The parents are very happy seeing the twins interacting with them and gaining new milestones,” he said.

“They now need to experience emotional support and a sense of safety in their journey to recovery.

“If parents notice symptoms like muscle weakness or lack of motor development in their babies, it is imperative to get a check-up done immediately ... earlier treatment can lead to better recovery.”