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

Miram K Depping,Bernd Löwe,Yskert Von Kodolitsch,Natalie Uhlenbusch,Hans F E Klose,Victor-Felix Mautner

doi:10.1186/s13023-020-01660-w

Miram K Depping, Bernd Löwe + Show 4 more

Open Access

https://doi.org/10.1186/s13023-020-01660-w

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Abstract

BackgroundIn 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.MethodsCross-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.ResultsPatients 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.ConclusionsPatients 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.

Highlights

In the absence of a cure for the majority of rare diseases, the disease management aims to provide optimal supportive care
Given that there is no cure for the majority of rare diseases, the management of rare diseases aims at providing optimal supportive care
It is the first study aiming at investigating multi-domain supportive care needs in patients with different rare chronic diseases; that is whether they currently feel sufficiently supported with respect to health system and information, physical needs, patient care, sexuality and psychological needs

Summary

Introduction

In the absence of a cure for the majority of rare diseases, the disease management aims to provide optimal supportive care. 300 million people are living with a rare disease worldwide, while every single condition is defined by a prevalence of 5:10,000 [1] This large group of patients is Depping et al Orphanet J Rare Dis (2021) 16:44 that patients with rare disease face high burden and that healthcare to date does not adequately address the needs of patients with rare diseases, yet. The current study sets out to understand what patients with rare diseases wish for above the currently available forms of care It is the first study aiming at investigating multi-domain supportive care needs in patients with different rare chronic diseases; that is whether they currently feel sufficiently supported with respect to health system and information, physical needs, patient care, sexuality and psychological needs. We asked an open ended question to specify patients’ supportive care needs by asking which form of support they wish for

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