As much as 70 percent of the rare diseases in the world are due to genetic abnormalities, often leading to chronic disabilities later in life. Pakistan suffers from a high burden of such disorders due to prevalent practice of inter caste marriages, lack of awareness among people and non-availability of clinical metabolic services, said speakers at the launch of Ek-Sath, an initiative to bridge the disconnect between the public and health educationists about inherited metabolic disorders (IMDs).
IMDs are rare genetic conditions resulting in a person’s metabolism, the process that converts food into energy, to not work optimally. Inadequacies in genes can lead to abnormal chemical reaction interfering with the metabolism and negatively impacting the quality of life of the individual and the community.
“Strategic engagement of patients and their families with healthcare providers can help in identifying existing barriers in care,” said Dr Aysha Habib Khan, consultant chemical pathologist and professor in the department of pathology and laboratory medicine. “The Ek-Sath movement will help us in identifying and creating opportunities for community participation in advocacy and medical research.”
Globally, a lot of value and importance has been recognised in linking affected families with one another. The support groups provide an opportunity for people to learn from one another, participate in researches and encourage the generation of new information, speakers said.
Due to dearth of support groups in Pakistan and to bridge the gap of information on IMDs and their diagnoses, the department of pathology and laboratory medicine in collaboration with Pak-IMD-Net and Pakistan Society of Chemical Pathologists has launched a web portal. The initiative will be followed by educational sessions on commonly encountered diseases, family support group session, school-hospital partnerships, capacity building of healthcare professionals, and research collaboration opportunities in the coming weeks.
“At AKU we strive to improve the diagnostics and management of children suffering from rare IMDs in the country by developing newborn screening programmes for prevention,” said Dr Lena Jafri, section head of chemical pathology and assistant professor in the department of pathology and laboratory medicine. “If diagnosed and treated early, IMD disorders can help prevent developmental delay and mental retardation in children.”
"Apart from disease identification through correct diagnostic tests, another challenge to overcome in management of IMDs in Pakistan is by recognising families’ right to genetic counseling as part of the treatment plan," said Dr Bushra Afroze, consultant metabolic physician and associate professor in the development of paediatrics and child health.
Speakers at the event also emphasised on the significance of early childhood intervention, representation of diverse patient voices in the support groups, promotion of skill building programmes for effected children and access to quality education and opportunities for growth.