Living with a rare disease affects all aspects of daily life. This impact is disease-dependent and influenced by several factors like demography, time of diagnosis, disease-specific symptoms and treatments available, among others. Hence, it is important to develop quality of life (QoL) studies that incorporate the patient's perspective, with the aim of identifying and prioritizing areas of intervention for an integral care of the patients.
Information directly reported by adult patients or caregivers of paediatric patients living with a rare disease will allow us to measure the impact on the health-related quality of life of this community.
Differences reported by the patients according to their country of origin, diagnosis (if available) and disease-specific body systems affected will be correlated.
The results obtained will be disseminated during Rare Disease Day 2022 and communicated to key stakeholders in order to help them in the design of recommendations and guidelines.
The survey consists of 40 questions and it takes only 20 minutes to complete. The first part aims to collect data about the time of diagnosis and body systems affected by the disease. The second part seeks to assess physical and mental health based on 8 concepts:
- Physical functioning
- Bodily pain
- Role limitations due to physical health problems
- Role limitations due to personal or emotional problems
- Emotional well-being
- Social functioning
- General health perceptions