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

Area of Science:

• Medical Sociology
• Patient Experience Research
• Rare Diseases

Background:

• Over 6000 rare diseases exist, with limited understanding of shared patient experiences.
• Exploring the daily life and healthcare burdens faced by individuals with rare chronic conditions is crucial.

Purpose of the Study:

• To investigate the perceived burden of living with rare chronic diseases.
• To identify commonalities and differences in patient experiences across four distinct rare conditions.

Main Methods:

• Qualitative focus group study involving patients with rare diseases.
• Four diagnostically homogeneous focus groups were conducted at a German university medical center.
• Participants included individuals with neurofibromatosis type 1, primary sclerosing cholangitis, pulmonary arterial hypertension, and Marfan syndrome.

Main Results:

• Five main themes emerged: medical issues, psychological burden, healthcare system challenges, life constraints, and interpersonal difficulties.
• While medical problems varied, patients reported common issues like psychological distress, life limitations, and stigmatization.
• Shared healthcare system problems stemmed from the rarity of diseases, including limited access to specialized care and knowledge gaps.

Conclusions:

• Despite clinical diversity, rare disease patients experience significant commonalities.
• These shared burdens, including aspects specific to rare conditions, necessitate targeted interventions.
• Generic interventions addressing common burdens can optimize care within resource constraints.