Acceptance and commitment therapy meets peer-support. Development of a supportive self-care intervention for patients with rare diseases: a multistage development process.

OBJECTIVE: We aimed at developing a patient-centred self-help programme, tailored to the needs of patients with rare chronic diseases. DESIGN: Multistage, multimethod development process including a survey with validated self-report scales and open-ended questions (phase 1) and focus groups (phase 2) for needs assessment and, consolidating the first phases and the literature, the intervention development (phase 3). SETTING: Phase 1: nationwide online survey in Germany, phase 2: four separate and diagnostically homogeneous focus groups. The focus groups took place at a university medical centre in Germany. PARTICIPANTS: Target group were patients with rare diseases that occur at a prevalence <1:2000. Phase 1: n=300 participants with different rare diseases. Phase 2: Individuals with neurofibromatosis type 1 (n=4), primary sclerosing cholangitis (n=5), pulmonary arterial hypertension (n=4) and Marfan syndrome (n=5). RESULTS: The central results of phases 1 and 2 were requests for more information about the disease and contact with other affected persons. Patients also expressed support needs in dealing with difficult emotions and identified acceptance of the disease as a turning point for quality of life. In phase 3, we identified acceptance and commitment therapy (ACT) as a suitable therapeutic approach and determined details about implementation and execution of self-management programmes. A 6-week self-help concept led by peer counsellors was developed, which includes disease-specific information and ACT-based exercises. CONCLUSION: Based on a multistage needs assessment, we developed a peer-guided self-help intervention for patients with rare chronic diseases. Combining self-management, peer-counselling and ACT may help living with a rare condition. Further research needs to test the programme's efficacy. TRIAL REGISTRATION NUMBER: ISRCTN13738704.

Efficacy of a Brief, Peer-Delivered Self-management Intervention for Patients With Rare Chronic Diseases: A Randomized Clinical Trial.

Importance: Patients coping with rare diseases need psychosocial support. Objective: To evaluate the efficacy of a brief, transdiagnostic, peer-delivered intervention for patients with rare diseases in addition to care as usual (CAU) compared with CAU only. Design, Setting, and Participants: In this 2-group randomized clinical trial conducted from October 5, 2017, to July 12, 2019, patients were recruited via specialized clinics and patient organizations across Germany and participated from home. The study included consecutive adult patients with neurofibromatosis type 1, Marfan syndrome, primary sclerosing cholangitis, and pulmonary arterial hypertension who have limited functionality because of the disease. Exclusion criteria were a life-threatening health status and ongoing psychotherapeutic treatment. Of 143 patients screened for eligibility with a semistructured telephone interview, 54 were excluded, and 89 were randomized: 45 patients were randomly allocated to the peer-delivered intervention group, and 44 to the control group; 87 patients (98%) completed the 6-month follow-up assessment. The analysis was performed using an intention-to-treat principle. Data cleansing and analysis were conducted between April 25, 2019, and February 13, 2020. Interventions: The 6-week intervention consisted of a self-help book and telephone-based peer counseling in addition to CAU. The control group received CAU alone. Peer counselors received training, structured consultation guidelines, and supervision. Main Outcomes and Measures: The primary outcome was acceptance of the disease as assessed using the Illness Cognition Questionnaire (ICQ; mean sum scores range from 0 to 18, with higher values representing more acceptance) 6 months after the intervention. Secondary outcomes included self-reported coping strategies (Health Education Impact Questionnaire), illness cognition (ICQ and Illness Perception Questionnaire), depression severity (Patient Health Questionnaire 9-item depression scale), anxiety severity (Generalized Anxiety Disorder Scale), quality of life (12-Item Short-Form Health Survey), and social support (Social Support Questionnaire). Outcomes were assessed before the intervention, after the intervention, and at a 6-month follow-up. Results: The mean (SD) age of the 89 participating patients was 46.3 (14.9) years; 59 (66%) were women. There were no group differences regarding baseline variables. All patients allocated to the intervention group completed the intervention. Six months after the intervention, but not directly after completing the program, the intervention group had significantly higher rates of acceptance (ICQ) of the disease (primary outcome) compared with the CAU group. Mean (SD) baseline ICQ scores were 9.61 (3.79) in the control group and 9.86 (3.40) in the intervention group. Mean (SE) ICQ scores at 6 months were 10.32 (0.42) for the control group and 11.79 (0.42) for the intervention group, with a significant mean difference of -1.47 (95% CI, -2.63 to -0.31; P = .01). Several secondary outcomes, including different coping strategies, social support, and mental quality of life, were significantly higher after the intervention compared with the control group. Conclusions and Relevance: In this randomized clinical trial, a self-help and peer counseling intervention improved patients' acceptance of their rare chronic diseases. Self-management and peer support can efficiently address the unique care needs of patients with rare diseases. Trial Registration: isrctn.org Identifier: ISRCTN13738704.

Supportive care needs of patients with rare chronic diseases: multi-method, cross-sectional study.

BACKGROUND: In the absence of a cure for the majority of rare diseases, the disease management aims to provide optimal supportive care. The goal of this study was to assess supportive care needs in patients with chronic rare diseases. METHODS: Cross-sectional mixed-method study was conducted using validated self-report scales and open-ended questions to assess supportive care needs. Participants affected by rare diseases across Germany were contacted via patient organizations and centers for rare diseases. N = 304 participants with 81 different rare diseases completed the study, 81.6% were female, mean age was 44.2 years (SD = 12.8, range 16-74). The quantitative results regarding supportive care needs were compared to a reference population of patients affected by cancer (N = 888). Main outcomes were unmet supportive care needs of patients with rare diseases, as assessed by the Supportive Care Needs Survey (SNCS-SF34) and an open-ended question on support wishes. RESULTS: Patients with rare diseases did not feel sufficiently supported with regard to psychological support, health system and information, physical and daily living, patient care and support, and sexuality needs. The unmet supportive care needs were significantly higher in the patient sample with rare diseases compared to the SCNS-SF34 reference sample of patients with cancer. 60% of patients with rare diseases did not feel sufficiently socially supported. CONCLUSIONS: Patients affected by rare diseases have high unmet support needs in all areas studied. Multidisciplinary care, including psychological support and the provision of information regarding the healthcare system, treatment options, disease course and sexuality, might help address these needs.

Perceived burden in dealing with different rare diseases: a qualitative focus group study.

OBJECTIVES: There are more than 6000 heterogeneous rare diseases and little is known about shared experiences of affected individuals in everyday life and healthcare. Objective of this study was to explore perceived burden of patients with rare chronic diseases and identify commonalities and differences in the experiences of patients with four heterogeneous conditions. DESIGN: A qualitative focus group study. SETTING: In four separate and diagnostically homogeneous focus groups, we asked patients about the perceived burden of living with their rare disease. The focus groups took place at a university medical centre in Germany. PARTICIPANTS: Individuals with neurofibromatosis type 1 (n=4), primary sclerosing cholangitis (n=5), pulmonary arterial hypertension (n=4) and Marfan syndrome (n=5). RESULTS: We identified five main themes: medical problems, psychological burden, problems with the healthcare system, constraints and interpersonal problems. While medical problems differed widely between the diagnostic groups, patients with different conditions independently reported many common problems including psychological burden, constraints in professional, personal and daily life, stigmatisation and others lacking understanding. Shared problems pertaining to the healthcare system seem related to the rarity of the conditions (eg, limited access to adequate care, lack of knowledge). CONCLUSIONS: Despite clinical heterogeneity of rare diseases, affected individuals have many common experiences. Some of these experiences may resemble the burden of living with a chronic disease. However, patients reported aspects, which seem to be specific for rare chronic diseases. Generic interventions targeting shared burdens among patients with different diseases could provide adequate treatment in light of finite healthcare resources.