United Arab Emirates: 44-day-old baby with rare disease receives life-saving injection – News

A 44-day-old baby diagnosed with a rare genetic disease, spinal muscular atrophy type 1 (SMA 1), received a Zolgensma injection that is among the most expensive drugs in the world and saved his life.

The successful administration of this innovative, unique gene therapy has been made possible by early detection and rapid collaboration between multiple parties, including Burjeel Hospital Abu Dhabi and local authorities.

Baby H. Al Ameri’s journey began when his watchful mother noticed unusual signs shortly after his birth. Slow movements, lack of crying, and a soft voice raised concerns that led the family to seek medical attention. A genetic test revealed the presence of SMA 1, a life-limiting disease.

“I was shocked when we heard about this disease, especially since I had never heard of it before. I couldn’t stand it. She did not show any symptoms, except that her hand did not move,” said L. Al Ameri, recalling her son’s diagnosis.

The concerned parents approached Dr Hussein Nasser Matlik, consultant pediatric 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 that, without treatment, is 90 percent fatal within the first year. Deficiency of the SMN protein, crucial for motor neuron function, causes muscle weakness, atrophy and loss of movement in children with the condition.

Of the drug’s potential to save lives, Dr. Matlik said: “There are currently three treatment options for this condition. Among them, Zolgensma is a unique treatment that is considered to address the root of the problem. “It replaces the defective or missing SMA gene, allowing the body to produce enough SMN protein to maintain motor neurons.”

Zolgensma, however, is not without potential side effects, which can include liver problems, low platelet levels, and elevated cardiac enzymes. Before administering the drug, the medical team took many precautions to prevent adverse effects.

“To avoid complications, before administering Zolgensma, they administered steroids the day before. We will continue steroids for at least a month. We will be closely monitoring liver enzymes and blood tests weekly for at least a month. When the liver enzymes return to normal levels, we plan to stop the steroids,” Dr. Matlik said, adding that if the medication has worked and there are no complications, the child can expect to lead a normal life.

Because the boy’s parents were initially concerned about giving this medication 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 taking this medication at an older age. They all highlighted that it was good that we detected this disease early in my baby and advised us to go ahead with the treatment,” said L. Al Ameri.

Two weeks after the medication was infused, the medical team began to see improvements in the baby. She was taken off oxygen support and began breastfeeding. There is an improvement in their motor movements. The medical team is optimistic that he will reach his early childhood milestones.

The family is relieved and emphasizes the power of faith to overcome adversity.

“We are grateful to the Almighty for the safety and health of our baby. We thank the UAE and the authorities for providing the best treatments to the patients. We appreciate the efforts of the medical team who stood by us during this difficult period,” stressed L. Al Ameri.

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