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

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.

Barriers to prophylaxis treatment among haemophilia A patients and caregivers in Shandong Province, China: a descriptive qualitative study

“…It often leads to extra clinical tests and unnecessary treatments which were costly and time-consuming that further decreased the motivation of patients towards prophylaxis treatment and ultimately increased complications. These nding was consistent with those of published studies[28, 35,36].…”

Prevalence of depression and anxiety, and their relationship to social support among patients and family caregivers of rare bone diseases

“…Notably, the results that caregivers had significantly severe depression symptom and anxiety than patients seemed surprising but were consistent with a published study on other chronic disease [ 38 ]. Apart from the small sample of patients, these results can be partially explained by the fact that the majority of family caregivers were parents, who were extremely concerned about the physical conditions of their children and had to bear tremendous burden (such as difficulty in social life, significant time cost and financial burden) [ 39 ], suggesting the great needs of caregivers for mental interventions such as aid of psychological counseling and support from other caregivers.…”

“…This was in line with previous studies reported that many caregivers with OI children had family relationships deteriorated or received no social support [ 4 , 8 ], highlighting the necessity to help families of RBD cope with these problems effectively and increase their adjustment to the disease. In this regard, attending patient groups or care centers, which have been confirmed to be one of the most effective ways [ 39 ], is highly recommended for RBD families to obtain social support by sharing information of the disease, difficult conditions experienced, and ways to cope with these availably.…”

Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges

“…The low number of patients with disability certificates is not only an issue for RD patients but people with disabilities in general, which may be associated with the bureaucracy of the process [ 116 ], stigma, and discrimination [ 117 ]. Not surprisingly, 69.6% of RD patients relied on the income of family members [ 118 ]. Similarly, RD patients in India often report absenteeism from work/school due to their diseases, leading to higher rates of school dropouts and unemployment when compared to the general population [ 54 ].…”