The last day of February is celebrated worldwide as Rare Disease Day. Today aims to draw attention to the problems of individuals with rare diseases and their families. These problems are the limited diagnostic possibilities and the inability to apply disease-specific treatments for various reasons (1).

Rare diseases include a group of diseases with a frequency of less than 1/2000 in the population (2). Many rare diseases are severe, chronic, and life-threatening (3-4). There are 400 million people worldwide who suffer from about 7000 different rare diseases (5). 80% of these diseases are genetic, and more than 50% are children (6-10). Rare diseases are seen in 1 out of every 16 people in Turkey; 5 million people in Turkey and 350 million people worldwide have a rare disease (11).

According to effective treatment options, rare diseases can be classified as fatal, severe but non-fatal, non-severe but manageable (12). Only 5% of rare diseases have a cure. Accurate diagnosis of rare diseases is necessary for specific care and treatment and conscious family planning. In addition, early diagnosis will reduce the risk of death in individuals with rare diseases. Survival after diagnosis was determined as 97.3%, 88.8%, and 80.8%, respectively, according to 1, 5, and 10-year estimates (13). Next-Generation Sequencing (NGS) (next-generation sequencing) technologies have led to revolutionary developments that give hope to patients because they provide high diagnosis rates in the early stages of life. (11th).

People with rare diseases; need special care and treatment methods, drugs, consumables, special foods, and medical devices (14). Undoubtedly, the solution to these problems is only possible if the states constantly review their health policies in this sense.



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14.  Unmet Medical Device Needs for Patients with Rare Diseases (