Rare Pediatric Diseases: Pathophysiology and Treatments

A rare disease is one that only affects a very small percentage of individuals. An orphan disease is one that affects a small percentage of the population and hence has a small enough market that finding a cure for it would be unfeasible without government intervention. Orphan medications are those that are developed specifically for use against rare diseases. Many rare diseases develop in childhood, and over 30% of children with uncommon diseases do not even live to see their fifth birthday. Rare childhood diseases are primarily hereditary conditions. For youngsters, the ideal window for treatment may be missed if a diagnosis is delayed or misunderstood. The pathogenesis, diagnosis, and treatment of rare diseases are poorly known, and it can be challenging to manage and get drugs for children who are afflicted with these conditions. Seventy percent of uncommon disorders are largely or solely inherited and manifest themselves only in children.