Abu Dhabi – Over the last few months, this advanced gene therapy has done wonders in enhancing their health condition.
One-year-old Emirati twins – Hamdan and Abdel Aziz – suffering from a rare debilitating neuromuscular disorder called Spinal Muscular Atrophy 1 (SMA 1), were given a new lease of life after they underwent a successful gene therapy treatment at Burjeel Hospital, Abu Dhabi.
When their parents noticed signs of extreme weakness in the newborns, who were unable move, breathe and swallow well, they took them for a check-up. It revealed that both the boys were suffering from the recessive congenital disease that is also a leading genetic cause of death for kids under the age of two years.
A genetic test confirmed both the babies had SMA1, which, if left untreated, could be fatal. Born with this neuromuscular disease caused by a defective or missing survival motor neuron (SMN1) gene, the twins had trouble with basic bodily functions like breathing, swallowing and movement.
In February, treatment started at Burjeel Hospital under an expert medical team led by consultant pediatrician and child neurologist Dr Hussein Nasser Matlik.
In March, the twins received the gene therapy (AVXS-101) designed to target the missing SMN1 gene by delivering a functional copy to make enough proteins necessary for nerve function. Over the last few months, this advanced gene therapy has done wonders in enhancing their health condition, doctors said.
“There are remarkable improvements in both the boys. 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,” Dr Hussein pointed out.
From being on a ventilator to being able to breathe on their own, the twins have come a long way.
Their father Rashid Al Hassani said: “We reached a point where we had lost all hope. 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 take their feed.”
“There was a time when we could not imagine our twin boys uttering their first words. But after being under treatment for the last six months, we are overjoyed to hear our kids say their first word – which was ‘Baba’ (father),” said Al Hassani, choking with emotion.
The one-year-olds were discharged from Burjeel Hospital, Abu Dhabi on August 16.
Expressing gratitude, the boys’ mother said: “We are so happy that they responded to this treatment quickly. Burjeel Hospital assisted us in every way possible. We thank the medical staff here and Dr Hussein for doing a great job and giving our babies all the attention.”
While the doctors will continue monitoring the improvement in motor development, the next course of action, they said, is to provide the twins with good rehabilitation support. Through physiotherapy and occupational therapy, the focus will be on helping them develop strength and movement abilities.
According to Dr Hussein, rehabilitation will empower the children to function on the best possible level. “The parents are very happy seeing the twins interacting with them and gaining new milestones,” he said, adding that they now need to experience emotional support and a sense of safety in their journey to recovery.
Look for signs
Dr Hussein urged people to pay close attention to the warning signs of SMA1. He said: “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. Please remember that earlier treatment can lead to better recovery.”
What is SMA
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).
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