Abstract: In the past few years, China has pushed forward the availability of diagnosis and treatment of rare diseases. However, only 5% of patients receive effective treatment in the world. In China, the difficulties in having access to drugs against rare disease is still one of the major problems in medical service and the main cause of patients complaints for " difficulties in getting treatment" and " difficulties in getting drugs". The availability of the medication for rare disease is a coordinating mechanism involving multiple such points in the chain as in research and development, production, circulation, usage, way of payment, technology innovation and so forth. It also relates to the actors in supply, demand, and policy decision-makers. The complexity is different from that of common drugs. This article provides a brief overview of the current status of availability policies of medication for rare diseases in China and in other countries, as well as the technology in drug development. In addition, the article points out the problems, challenges and expectations for future possibilities.