This paper presents a background on the definition of rare diseases, the challenges facing patients, and what needs to be done moving forward. The authors identify four key obstacles facing patients suffering from rare diseases, such as lack of recognition and inclusiveness, lack of awareness and comprehensive healthcare provisions, lack of access to medications and a lack of protection of the rights and dignity of these patients. The authors then recommend solutions needed to tackle these challenges, which range from enacting new legislation, increasing awareness, better funding and research and development.