Abstract
Background and aims:
Given the cause of self-stigmatization of patients with rare diseases is complicated, and the self-stigmatization can be prevented by managing the related risk factors. This study aimed to report the prevalence as well as influencing factors associated with self-stigmatization in patients with rare diseases.
Methods:
From January to April 2022, the respondent-driven sampling (RDS) method was used to select patients with rare diseases through the Chinese Organization for Rare Disorders as the subjects. Based on the theoretical model of health ecology, logistic regression analysis was used to explore the association between self-stigmatization level and sample characteristics of patients with rare diseases.
Results:
A total of 530 patients were included, 50.2% of whom were male, and most of them are under 45 years old (86.5%). The prevalence of self-stigmatization in patients with rare diseases was 85.7%. Logistic regression analysis indicated that age (OR: 0.624, 95% CI: [0.399, 0.976]), mental health status (OR: 0.184, 95% CI: [0.076, 0.445]), family relations (OR: 0.180, 95% CI: [0.074, 0.434]), full time work (OR: 2.835, 95% CI: [1.024, 7.849]) and medical insurance (OR: 0.296, 95% CI: [0.105, 0.835]) were risk factors for self-stigmatization of patients with rare diseases.
Conclusions:
Chinese patients with rare diseases have a high level of self-stigmatization, and the potential risk factors are multi-level and multi-dimensional.
Introduction
It is reported that an estimated 350 million people worldwide suffer from rare diseases.(Groft & Posada de la Paz, 2017) Little effective information, difficult diagnosis process, limited treatment methods troubled the quality of life of patients with rare diseases, and affected their mental health to a large extent (Groft & Posada de la Paz, 2017). When a person’s body, behavior, personality, status and other defects make him/her unable to meet the social definition of ‘normal’ or deviate from social expectations, it is easy to cause self-stigmatization (Groft & Posada de la Paz, 2017). Given the cause of self-stigmatization of patients with rare diseases is complicated, and the self-stigmatization can be prevented by managing the related risk factors, there is a need to have appropriate levels of knowledge regarding the influencing factors and plan appropriate interventions. This study aims to explore the influencing factors of self-stigmatization in patients with rare diseases.
Methods
We conducted a pilot study of adults living in China diagnosed with any rare diseases. Participants were recruited through Chinese Organization for Rare Disorders (CORD) and completed the online survey from January to April 2022 (n = 378). There were no exclusions from the study population. The investigation was performed with the general questionnaire, the Internalized Stigma of Mental Illness (ISMI) Scale, the Generalized Anxiety Disorder-7 Scale (GAD-7), the Adverse Childhood Experience-International Questionnaire Scale (ACE-IQ), and the AL-Clinical Diagnostic Scale. According to five categories of factors in the health ecology model, demographic factors, health behavior factors, social network factors, living and working conditions factors, and social policy factors, five models are established, and logistic regression analysis was used to explore the association between self-stigmatization level and sample characteristics of patients with rare diseases. Analyses were done using SPSS Statistics version 22.0 (IBM).
Results
This study included 60 rare diseases, mainly pseudochondrodysplasia (PSACH) (40.2%), facioscapulohumeral muscular dystrophy (FSHD) (9.8%) and SAPHO syndrome (7.9%). Patients were 50.2% male, most of them are under 45 years old (86.5%), and 56.1% live in cities. The prevalence of self-stigmatization in patients with rare diseases was 85.7% (Table 1).
Baseline characteristics of the complete case sample.
Note: IQR = interquartile range. Data are n (%) or mean (SD).
Based on the theoretical model of health ecology, the results of binary logistic regression analysis on the five categories of variables show that the fitting degree (Nagelkerke R2 = 0.025–0.364) of the model is significantly improved and the model prediction rate (85.7%–88.1%) of the model is also increasing with the addition of each category of influencing factors (Table 2). Our study results suggest that the influencing factors of self-stigmatization of patients with rare diseases include age (OR: 0.624, 95% CI: [0.399, 0.976]), mental health status (OR: 0.184, 95% CI: [0.076, 0.445]), family relations (OR: 0.180, 95% CI: [0.074, 0.434]), full time work (OR: 2.835, 95% CI: [1.024, 7.849]) and medical insurance (OR: 0.296, 95% CI: [0.105, 0.835]), in a fully adjusted model (Table 2; Figure 1).
Logistic regression analysis of factors influencing self-stigmatization in patients with rare diseases.
Note. Model 1: Adjusted for age, gender, and minorities; Model 2: Model 1 + quality of sleep, mental health status, and healthcare access; Model 3: model 2 + educational level, marital status, and family relations; Model 4: Model 3 + income level, residence, full time work, and stable residence; Model 5: Model 4 + medical insurance.
p < .05. ***p < .001.
Variable importance
Discussion
Our finding that the self-stigmatization of patients with rare diseases is closely related to their mental health (OR: 0.184, 95% CI: [0.076, 0.445]). A cross-sectional study of health-related quality of life and psychological aspects of adults with hemophilia shows that patients with mild to severe depression, anxiety and stress were 57.4%, 64.6% and 44.6%, respectively (Rambod et al., 2018). Recent studies have found that the global prevalence of anxiety in vitiligo patients is 35.8% (Kussainova et al., 2020) and the estimated lifetime prevalence of major depression in mitochondrial disease patients is 54% (Klein et al., 2021). Other reports also showed that 57.5%–61.8% of 20 to 26 patients with mitochondrial disease and severe fatigue with genetic diagnosis reported significant clinical anxiety symptoms (Klein et al., 2021). The poor mental health of patients with rare diseases has a negative impact on other aspects of life, including physical health; Work or study; And the chain effects of personal relationships with partners, friends and relatives.
In addition, we also found that family relation is an important factor affecting self-stigmatization of patients with rare diseases. Studies related to albinism have reported that parents of albinos may have the idea of abandoning their children after birth (Kromberg & Kerr, 2022). Albinic patients are ridiculed and shunned by their families. Many children with albinism are not allowed to go to their parents’ workplaces, and are often humiliated by others’ insults. This kind of family relationship may be caused by unusual medical problems of rare diseases, lack of disease specific information, delay in diagnosis, insufficient treatment options and limited access to medical care, which makes family caregivers bear great pressure. Based on the above data and related research, the psychological and self-stigmatization problems of patients with rare diseases need to be paid attention to by patients and all sectors of society. Therefore, timely treatment and intervention of self-stigmatization of patients with rare diseases is essential.
Our research has some limitations. Self-reported data may be affected by recall bias, and the causal direction cannot be deduced from cross-sectional data. Although this study has its limitations, it can provide a scientific way to understand the self-stigmatization of patients with rare diseases, so as to treat and intervene such psychological problems with new feasible strategies, and provide psychological care for patients with rare diseases. In addition, as far as we know, we conducted the first study on the potential risk factors of self-stigmatization of rare disease patients in China.
In conclusion, our research found that Chinese patients with rare diseases have a high level of self-stigmatization, and the potential risk factors are multi-level and multi-dimensional. In the future, we should strengthen the intervention of mental health of patients with rare diseases from individual to environmental factors.
Footnotes
Author contributions
H.X. Liang and J.Q. Zheng planned the study, performed all statistical analyses, and wrote the paper. Y.K. Sun helped to plan the study, including the instrumentation, and to revise the manuscript.
Conflict of interest
The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
Data availability statement
Data available on request from the authors.
Funding
The author(s) disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: This work was supported by the ‘Qiixng Jihua’ Public Welfare Communication Research Funding Project of China (2021-2022-A10).
