Although rare, 6 to 8% of the European population lives with a diagnosis of rare diseases, and there are more than 6,000 known diagnoses related to rare diseases (Croatian Association for Rare Diseases, 2020). Due to its rarity and insufficient research, working with people suffering from rare diseases represents a challenge in educational and rehabilitation science. Rare diseases affect educational outcomes and everyday life, and we can say with certainty that they impair the quality of life. In addition to health and medical limitations, children and young people suffering from rare diseases face a lack of awareness and understanding, limited accessibility, social stigmatization and a feeling of isolation and lack of individualized support in the educational system. The diagnosis of a rare disease brings numerous social, emotional and psychological challenges for both the person and his family, which consequently affects interpersonal relationships and the quality of life itself. The aim of this paper is to show the challenges faced by people diagnosed with a rare disease, and to show examples of good practice both in Croatia and in the world. One such example is certainly the instrument for observing Ågrenska from Sweden and the Rare Disease Database of the Croatian Association for Rare Diseases. Although there is awareness of rare diseases and a large amount of research on the subject, further research and networking of all stakeholders are needed in order to improve social and financial support, access to diagnosis and treatment, and thereby improve the quality of life of people diagnosed with rare diseases.