CURRENT PROBLEMS AND ISSUES IN THE DIAGNOSIS OF ORPHAN DISEASES IN CHILDREN
The review provides current data on the definition and number of orphan diseases in general, around the world, and in individual countries. World data and a small amount of experience from our own research are presented, indicating that rare diseases are complex, chronic diseases that require an interdisciplinary approach, and create many problems for patients, families, clinicians, as well as society and governments. The relevance of lysosomal storage diseases is highlighted. Orphan diseases are characterized by many problems: late diagnosis, multiple visits to the doctor before diagnosis, misdiagnosis, low or no access to medications. The diagnostic odyssey presents the importance of neonatal screening, tandem mass spectrometry as the most effective method for screening, as well as whole exome and whole genome sequencing. The continuing medical, social, economic and other problems of orphan diseases indicate the need to expand international cooperation, create patient organizations and communities for doctors, train personnel in the field of laboratory and clinical genetics, and conduct basic scientific research.
Orphan Diseases; Hereditary Metabolic Diseases, Lysosomal Storage Diseases, Neonatal Screening, Tandem Mass Spectrometry.