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The UAE is the first in the Middle East to start the treatment of Acid Sphingomyelinase Deficiency (ASMD), a rare genetic disease that causes premature death.
Al Qassimi Women's & Children's Hospital which is a Emirates Health Services (EHS) facility has been providing treatment for this rare condition which affects approximately 1 in 250,000 people across the globe.
This also makes the UAE the fifth country in the world to be offering treatment for ASMD which is caused by the lack of an enzyme needed to break down a complex lipid, called sphingomyelin that accumulates in the liver, spleen, lung, and brain.
It’s said patients with ASMD experience abdominal enlargement causing pain, vomiting, nutritional difficulties, and negative effects on the liver and blood.
The patients may develop neurological symptoms, and the lifespan can be only three years in extreme conditions. Individuals with mild condition may live to adulthood but their chances of survival are reduced due to respiratory failure.
The medication was given to a five-year-old child at Al Qassimi Women's & Children's Hospital’s genetic clinic after being monitored for over a year.
Emirates Health Services and the hospital's pharmacy worked together to treat the child as soon as possible.
Dr Safia Al Khaja, Director of Al Qassimi Women's and Children's Hospital (AQWCH), said, "In pursuit of our vision to lead the delivery of advanced health services, the hospital began treating ASMD using the first and only enzyme substitute available in the world after the U.S. Food and Drug Administration (FDA) approved the product.”
She added, “the spread of the disease has not been established, but one in every 250,000 people around the world suffers from it. Providing treatment for patients with this rare disease reflects the aspirations and objectives of EHS in line with the ‘WE THE UAE 2030’ vision to meet the goals for the UAE 2071.”
Al Khaja explains that as a result of this, patients exhibit short stature and changes in their appearance, enlargements of internal organs, and an accumulation of body fat among other symptoms. There may be serious health consequences as a result of this.
Dr Fatima AbdulAziz Al Ali, Consultant Clinical Geneticist, and Head of the Genetic Disorders Department at Al Qassimi Women's and Children's Hospital, said The Emirates Health Services constantly works to ensure that patients receive continuous care.
“This is accomplished by providing seamless care by leveraging the benefits of digitalization, seamless care can be provided through utilizing digital tools, we are able to automatically schedule patient consultations and provide them with care immediately to enhance the patient experience.”
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