Overcoming Barriers, Finding Solutions: Parent and School Staff Perspectives on the School Experiences of Children with Cystinosis

Over 300 million people live with rare conditions worldwide, 70% of which occur during childhood. The rare disease community has emphasised the need to shift beyond a medical focus towards a broader understanding of the day-to-day challenges and experiences of people living with rare conditions. Cystinosis is a rare, chronic, multi-systems condition affecting 1 in 200,000 people in Ireland. Through a systematic literature review and qualitative empirical research, this thesis aims to explore strengths and needs of children with cystinosis and the impact of living with cystinosis on children’s school experiences. Underpinned by Bronfenbrenner’s bioecological theory, the systematic literature review found that while children and young people with cystinosis may be at risk for social-emotional difficulties, there is a significant lack of qualitative research that contextualises these risks. There is very little focus on the experiences of children with cystinosis in the context of school. The empirical research explored the perceptions of parents (N= 5) and school staff (N =7) on the psychosocial strengths and needs of children with cystinosis (aged 4 to 16 years) as well as the factors impacting their experiences in the school system. Results highlighted their resilience and strengths, while also acknowledging that children’s needs change over time as they face new challenges. The research highlights the importance of collaboration at a child, school, and multidisciplinary level. There is a need for increased knowledge about cystinosis at a broad level, combined with an understanding of the individual needs of the child in the context of school. Implications for psychological practice and education are outlined.