A questionnaire-based study to comprehensively assess the status quo of rare disease patients and care-givers in China

Orphanet Journal of Rare Diseases - 2021
Xuefeng Li1, Meiling Liu1, Junyan Lin2, Bingzhe Li3, Xiangyu Zhang4, Shu Zhang5, Zijuan Lu6, Jianyong Zhang7, Jincheng Zhou8, Li Ou9
1The Sixth Affiliated Hospital of Guangzhou Medical University, Qingyuan People’s Hospital, Qingyuan, People’s Republic of China
2State Key Laboratory of Respiratory Disease, Sino-French Hoffmann Institute, School of Basic Medical Sciences, Guangzhou Medical University, Guangzhou, 511436, People’s Republic of China
3School of Electrical and Computer Engineering, Oklahoma State University, Stillwater, OK 74078, USA
4School of Statistics, University of Minnesota, Minneapolis, MN 55455, USA
5Department of Oral Implantology, The Affiliated Stomatology Hospital of Kunming Medical University, Kunming, 650106, People’s Republic of China
6School of Humanities, Tongji University, Shanghai, 200092, People’s Republic of China
7Jinhaishiji, 333 Jichanglu, Panzhihua, 617000, Sichuan, People’s Republic of China
8Center for Design and Analysis, Amgen Inc., Thousand Oaks, CA, 91320, USA
9Gene Therapy Center, Department of Pediatrics, University of Minnesota, 5-174 MCB, 420 Washington Ave SE, Minneapolis, MN, 55455, USA

Tóm tắt

Abstract Background There are over 16.8 million rare disease patients in China, representing a large community that should not be neglected. While the public lack the awareness of their existence and difficult status quo, for one reason that they exist as a rare and special group in our society, for another reason that all sectors of the community haven’t introduced and propagandized them suitably. However, as a special group with more difficulties in all aspects than normal healthy persons, they need enough care and love from us. To provide a basis for policy-makers to better understand the status quo of rare disease patients and care-givers in China and to devise some new policies to improve their quality of life, a comprehensive analysis of the status quo, unmet needs, difficulty caused by the rare disease is essential. Methods A questionnaire-based online study of patients and care-givers (usually family members) was performed. The questionnaire was composed of 116 questions, such as the diagnosis process, treatment access, financial burden, views on patients’ organizations, and a series of standardized tests to assess the quality of their life, including the SF-36, PHQ-9, PHQ-15, GAD-7, and PSQI. To examine the influence of age, disease type, and relationship to patients on the scores in these tests, statistical analysis with a general linear model was conducted. Findings A total of 1959 patients and care-givers participated in the survey, representing 104 rare diseases, such as lysosomal storage diseases, hemophilia, and muscular dystrophy diseases. The diagnosis was delayed for 1.4 ± 3.0 years, and patients experienced 1.6 ± 3.8 misdiagnoses between 3.2 ± 2.4 hospitals. The hospitals where diagnoses were made were highly concentrated in 10 large hospitals (43.8%) and 5 big cities (42.1%), indicating a significant inequality of medical resources. The disease often led to difficulty in social life, education, and employment, as well as financial burden that was seldom covered by medical insurance. A battery of standardized tests demonstrated poor health status, depression, somatization, anxiety, and sleeping issues among both patients and care-givers (p < 0.05). Statistical analysis of the questionnaire also showed that poor health, anxiety, depression, somatization, and sleeping problems were more prevalent in patients than in care-givers, and more prevalent in more severe diseases (e.g., hemophilia, Dravet) or undiagnosed than in other diseases. Interpretations This study identified the lack of rare disease awareness and legislative support as the major challenge to rare diseases in China, and makes key recommendations for policy-makers, including legislating orphan drug act, raising rare disease awareness, providing sufficient and fair opportunities about education and employment, expanding the medical insurance coverage of treatments, and protecting rights in education and employment.

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