The Ministry of National Guard - Health Affairs represented by the Genetics Division – Pediatrics Department conducted a Rare Diseases Awareness Day “With Research, Possibilities Are Limitless", the event was held on Tuesday, the 28 of Feb 2017 in the Outpatient Clinics, in King Abdullah Specialist Children's Hospital.
This event, which was held for the second year in a row, aims to increase the community’s awareness levels on the importance of the newborns screening program to detect diseases related to metabolism in particular, Hypothyroidism, Congenital Adrenal Hyperplasia and in addition to explaining the symptoms of these diseases in order to avoid delays in the discovery.
Metabolic diseases are characterized by the accumulation of the body’s naturally produced chemicals as a result of a hereditary chemical imbalance or a lack of certain enzymes, which affect the children in several ways depending on the impact of the disease.
The risk of such diseases is relatively high as these diseases can be discovered weeks after natural breastfeeding, unless the newborn was screened for metabolic diseases before being discharged immediately after birth. The screening process involves taking a blood sample from the back of the infant’s foot.
Rehabilitation department has participated at King Abdullah Specialist Children three Boqsama: It physiotherapy, occupational therapists and prosthetic limbs, where the department provides services for a large segment of patients, including rare with genetic diseases, the impact of complications caused by the disease.
Furthermore, Rehabilitation Department sections participated in this event through physiotherapy, occupational therapy as well as Orthotics/Prosthetics, where the department provides its services for a large segment of patients, including rare genetic diseases patients. Such cases can result in a malfunction of some muscles or joints, hence the rehabilitation services with the help of the patient can return the injured part to its original state by direct physical therapy or through prosthetics.
The program contained 10 awareness, recreational and educational corners for children and their companions, supervised by specialists from the Social Service Department and volunteers from several different views.