Sharjah: The UAE has become the first country in the Middle East and the fifth in the world to offer treatment for acid sphingomyelinase deficiency (ASMD), a rare genetic disorder that causes premature death.
The Emirates Health Services (EHS) has provided treatment for ASMD through Al Qassimi Women’s and Children’s Hospital (AQWCH), one of EHS facilities.
The medication was given to a five-year-old child at the 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 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 US 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.
Symptoms
Al Khaja explained that rare genetic diseases are characterised by a lack of an enzyme required to break down fatty substances. The complex lipid called sphingomyelin accumulates in the liver, spleen, lung, and brain. As a result, patients exhibit short stature and changes in their appearance, enlargements of internal organs, and an accumulation of body fat, particularly in the liver, spleen, lungs, and brain, among other symptoms. There may be serious health consequences as a result.
Al Khaja praised the Emirati medical staff at the hospital, represented by Dr Fatima Abdul Aziz, head of the Genetic Disorders Department at AQWCH. Al Khaja also praised the cooperation of all staff members, including the medical and nursing staff, and the Board of Directors, which contributed to the enhancement of the quality of patient care.
Dr Fatima, who is a consultant clinical geneticist, said the symptoms of ASMD include 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.
She added that the hospital is able to automatically schedule patient consultations and provide them with care immediately to enhance the patient experience.
