Challenges in the Diagnosis and Treatment of Patients with Rare and Orphan Diseases

Orphan diseases are diverse group of disorders that have not gained much of public attention as they are rarely reported worldwide. The term orphan and rare diseases are often used interchangeably when describing diseases that fall into an orphan or rare category. Around 80% of orphan diseases are chronic, serious, or life threatening, are of genetic origin, and are more prevalent in children and in adults above 40 years of age. Due to rarity, lack of financial support and specific drug to treat these diseases, diagnosis, and treatment becomes challenging. Diagnosis is usually delayed, and patient continues to suffer by seeking multiple specialist opinion. Nonavailability of specific drug and lack of financial funding or waivers to conduct to conduct clinical trial for invention of new orphan drug are the obstacles for targeted treatment. Hence, there is need for comprehensive integrative approach to manage orphan disease patients and pharmaceutical companies should be encouraged for invention of drugs at a reasonable cost for orphan diseases. In addition, community education through genetic-based learning modules is essential to increase awareness of population about risk factors and early diagnosis of orphan diseases, and to take opinion of specific specialist for thorough clinical evaluation. This review discusses challenges faced by the specialists toward diagnosis and treatment of orphan disease for well-being of an individual living with the disorder.