| Popis: |
Background. The European Union defines a rare disease as a life-threatening or chronically debilitating disease, with a prevalence of less than 5 per 10,000 persons. Whilst individually rare, there are over 6172 different forms of rare diseases, which together affect at least 18–30 million people in Europe. Osteogenesis Imperfecta (OI) is one of those rare diseases, with a prevalence of about 1 in 15-20,000 persons and is associated with short stature and bone deformities. OI leads to a significant reduction in mobility, which influences daily life ranging from stair climbing, walking long distances or reaching items on the top shelves in grocery shops. However, there is an absence of published data about mobility challenges faced by individuals with OI in a real-world environment and the consequences of these challenges on an individual's quality of life (QoL). To explore the mobility challenges faced on a daily basis, the OI community was asked with photovoice online, which areas of daily living are influenced, which mobility challenges they face daily, and what solutions are perceived as helpful. Results: In total, six areas of life (living environment, cars and public transport, public spaces, grocery shopping, travelling, and sports), 40 daily mobility challenges and ten solutions proposed by the community could be identified with this approach. The discussion of these results throughout the project was conducted from three perspectives (environmental view, physiological/functional, and psychosocial view). Challenges related to environmental factors are, e.g. lack of accessibility, as well as a floor plan of apartments and can be mitigated mainly through universal and special design approaches. Physiological/functional problems arising from OI characteristics (e.g. high risk of falling due to balance issues, cardiovascular issues when covering long distances), have a high potential for developing assessments with wearables and specific exercise programmes. Challenges of a psychosocial nature, e.g. feelings of loneliness and avoiding a grocery store trip, can be mitigated by building an appropriate network. Conclusion: In summary, an understanding of daily mobility challenges provides a basis for the development of appropriate guidelines for universal design, assistive technologies as well as assessments in daily life. |
