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Emirates Health Services (EHS), through one of its facilities, the Al Qassimi Women’s and Children’s Hospital, provides treatment for a rare genetic disorder called acid sphingomyelinase deficiency (ASMD).
This makes the UAE the first country in the Middle East to offer the treatment, and the fifth globally.
After being monitored for more than a year, the drug was given to a 5-year-old child at the hospital’s genetic clinic. EHS and the hospital pharmacy work together to treat the child as soon as possible.
Enzyme Substitute
Dr. Safia Al Khaja, Director of Al Qassimi Women’s and Children’s Hospital (AQWCH), said: “In pursuit of our vision to lead in the delivery of advanced healthcare, the hospital began using the world’s first and only available enzyme replacement for ASMD in the U.S. Food and Drugs After the FDA approves the product.”
She said: “The spread of this disease has not been determined, but it affects one in every 250,000 people worldwide. Providing treatment for patients with this rare disease reflects the aspirations and goals of EHS and is consistent with the “WE THE UAE 2030” vision to achieve the goals of the UAE in 2071.
As Dr. Al Khaja points out, rare genetic disorders are characterized by a deficiency of an enzyme needed to break down fatty substances. As a result, patients show short stature and altered appearance, enlarged internal organs and fat accumulation in the body, especially in the liver, spleen, lungs and brain, among other symptoms. This can have serious health consequences.
Dr Al Khaja commended the hospital’s Emirati medical staff, represented by Dr Fatima AbdulAziz, Head of the Genetic Disease Unit, Al Qassimi Women’s and Children’s Hospital. She emphasized that the doctor and her team are committed to following international best practice when treating patients.
continuous care
Dr. Al Ali said EHS is constantly working to ensure patients receive a continuum of care. “This is achieved by leveraging the benefits of digital to provide seamless care, which can be delivered by leveraging digital tools where we are able to automatically schedule patient consultations and provide them with immediate care to enhance the patient experience.”
Symptoms of ASMD include pain from a distended abdomen, vomiting, nutritional difficulties and negative effects on the liver and blood, she said.
Patients may experience neurologic symptoms and may live as little as three years under extreme conditions. People with milder conditions may live into adulthood, but their chances of survival are reduced due to respiratory failure. — trade arab news agency
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