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

Abstract

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.

Supportive care needs of patients living with an extremely rare and unpredictable cancer: The Epithelioid Haemangioendothelioma patient experience

“…The highest needs in our total EHE cohort were in the psychological (uncertainty about future; feeling in control of the situation, fears and worries) and physical and daily living domain (lack of energy/ tiredness, not being able to do the things you used to do). This is congruent with the findings of Srikanthan et al, (2019) showing that the domain scores of the SCNS of a patient sample with rare diseases were significantly higher compared to a reference sample of patients with cancer (Depping et al, 2021). Domain scores of our total EHE cohort were lower compared to the rare disease cohort.…”

“…The domain scores of EHE patients with a high symptom burden were quite similar to the rare disease patient sample and much higher than the reference sample of cancer patients. It could be that highly symptomatic EHE patients better reflect the rare disease population covering mostly patients with chronic diseases with limited curation options (Depping et al, 2021).…”

“…Third, our cohort mostly consisted of members of the International EHE Facebook group, in which they have access to peer support and the expertise of other patients and EHE foundation board members. It is likely that we primarily reached patients who, it can be presumed, are highly educated and wellintegrated into care structures (Depping et al, 2021) and not completely representative for the EHE population. Fourth, we probably missed patients with more aggressive disease due to a quick decline in health (i.e.…”

“…A plausible explanation is that the SCNS is not specifically developed for rare cancer patients. We therefore might have missed important (unmet) supportive care needs of particular relevance for rare cancer patients, for example coping with stigmatisation, referral to expert centre (Depping et al, 2021;Drabbe et al, 2021). There is no questionnaire available assessing the needs of rare cancer patients.…”

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

“…Patients with rare chronic diseases are exposed to psychosocial stress due to the course of their disease and difficult access to adequate care. 1 2 32 The quantitative study we conducted in phase 1 33 underlines the high psychological support need that has been postulated by patient organisations. 6 In phase 2, we performed a qualitative focus group study specifying the support needs by asking what kind of support patients wish for and what has helped in the past.…”