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UAE: 44-day-old baby with rare disease gets life-saving injection

The disease is 90 per cent fatal in the first year, if treatment is not received

A 44-day-old infant diagnosed with a rare genetic disease, spinal muscular atrophy type 1 (SMA 1), has received a life-saving Zolgensma injection which is among the costliest drugs in the world.

The successful administration of this groundbreaking one-time gene therapy has been made possible because of early detection and swift collaboration between multiple parties, including Burjeel Hospital, Abu Dhabi, and the local authorities.

The journey of baby boy H. Al Ameri began when his vigilant mother noticed unusual signs shortly after his birth. Slow movement, a lack of crying, and a soft voice raised concerns that prompted the family to seek medical advice. A genetic test revealed the presence of SMA 1 – a life-limiting disease.

“I was shocked when we learned about this disease, especially since I had never heard of it before. I could not bear it. He did not show any symptoms, except that his hand was not moving,” said L. Al Ameri, recalling her son’s diagnosis.

The worried parents approached Dr Hussein Nasser Matlik, consultant paediatric neurology and head of the department at Burjeel Hospital, who advised them to expedite the treatment.

According to Dr Matlik, SMA 1 is a disease which, without treatment, is 90 per cent fatal in the first year. The deficiency of the SMN protein, crucial for motor neuron function, leads to muscle weakness, wasting and loss of movement in children with the condition.

On the life-saving potential of the medicine, Dr Matlik said: “Three treatment options exist for this condition at present. Among them, Zolgensma is a one-time treatment that is considered to address the root of the issue. It replaces the faulty or missing SMA gene, allowing the body to produce sufficient SMN protein to maintain motor neurons.”

Zolgensma, however, is not without potential side effects, which can include liver problems, low platelets, and elevation in heart enzymes. Before administering the drug, the medical team took many precautions to prevent adverse effects.

“To prevent complications, before administering Zolgensma, he was given steroids the previous day. We will be continuing with steroids for at least one month. We will be closely monitoring liver enzymes and blood tests weekly for at least one month. When the liver enzymes come back to normal levels, we plan to stop the steroids,” said Dr Matlik, adding that if the medicine has worked and there are no complications, the child can expect to lead a normal life.

As the child’s parents were initially worried about giving this medicine to their son, the hospital put them in touch with other families whose children were diagnosed with SMA-1.

“The families I spoke to had children who took this medication at a later age. Everyone highlighted that it was a good thing we caught this disease early in my baby and advised us to go ahead with the treatment,” said L. Al Ameri.

Two weeks after the infusion of the medicine, the medical team started witnessing improvements in the baby. He has been weaned off oxygen support and started breastfeeding. There is an improvement in his motor movements. The medical team is optimistic that he will achieve his early childhood milestones.

The family is feeling relieved and underlined the power of faith in overcoming adversities.

“We are thankful to the Almighty for the safety and health of our baby. We are grateful to the UAE and the authorities for providing the best treatments to patients. We appreciate the efforts of the medical team who were by our side throughout this challenging period,” L. Al Ameri underlined.

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