Children and young people's experiences of living with rare diseases: An integrative review

Rare diseases are any disease affecting fewer than five people in 10,000. More than 8000 rare diseases and 50–75% of all rare diseases affect children. The purpose of this review was to critically appraise and synthesize existing literature relating to the impact of rare diseases on children's day-to-day lives. An integrative literature review was conducted using the CINAHL Plus, PsycINFO, and PubMed databases. Studies were included if they were a primary source was published between the years 2005 and 2019 and written in the English language. Eight primary sources met the inclusion criteria. Seven main themes emerged from the review as follows: (i) the experience of stigmatisations, (ii) self-consciousness, (iii) restrictions in independent living, (iv) developing resilience/coping strategies, (v) psychological and emotional impact, (vi) social impact vs social connectedness and (vii) transition challenges. The experience of having a rare illness differed across different age groups. Children (typically aged 3–10) with rare diseases generally view themselves and their lives the same way like their healthy peers. They were more likely to report being adaptive and resilient than those aged 12 or older. Young people reported being different compared to young children, and they faced numerous challenges related to their illness. To provide the best possible level of care for children and families with rare disorders, health services must be informed and equipped to provide the necessary supports specific to the unique needs of children and young people living with rare diseases. •Living with a rare disease is an ongoing learning experience for affected children, young people, and their families.•Despite a rare disease, children and young people develop a sense of self that is a new normal.•Children and young people with rare diseases experience negative social and psychosocial impacts, leading to lower self-esteem and resilience.•There are very limited studies reporting on interventions to address the care needs of the paediatric population with rare diseases.