Author(s)

Xinyi Li

Corresponding Author

Xinyi Li

ABSTRACT

Objective: To investigate the survival status of patients with rare diseases in Guangdong Province, and to provide the basis for improving the survival status of patients with rare diseases and establishing the security system for patients with rare diseases. Methods: Snowball sampling was used to investigate patients by relying on the manufacturers of drugs for rare diseases and patient organizations. Questionnaires were distributed online and on site simultaneously. Results: A total of 240 patients were investigated, among which 221 were valid questionnaires, and the effective rate was 92.08%. There were 52 patients with multiple sclerosis and 169 patients with ultra-rare diseases. The age of the patients was mainly 14 years old or below, 20.4% of the patients were treated according to the indications, and the misdiagnosis rate was 54.3%. Patients with rare diseases scored 2.33±0.94, 1.95±0.89, 9.71±2.71, 12.19±3.02, 12.11±3.59 and 10.86±2.67, respectively, in terms of their physical, psychological, social and environmental dimensions. The quality of life of patients with rare diseases was related to educational level and annual family income. Conclusion: The problems faced by patients with rare diseases mainly include heavy medical burden, poor access to drugs, high misdiagnosis rate and low quality of life. Among them, patients with ultra-rare diseases face more serious problems. In order to improve the survival status of patients with rare diseases, it is suggested to perfect the medical collaboration network for rare diseases, establish and perfect the gene screening procedure for rare diseases, and build a multi-level medical insurance model for rare diseases. Improve the management mechanism of the organization of patients with rare diseases and give play to its functions of communication and assistance.

KEYWORDS

Rare diseases, ultra-rare diseases, patients, survival status