A qualitative exploration of children's lives with rare diseases

Abstract

Background

Rare diseases encompass a diverse group of debilitating and sometimes life-threatening conditions that affect a small percentage of the population, posing a significant public health challenge. Despite their rarity, around 70% of these diseases afflict children, yet limited research has focused on their experiences. This study aimed to gain insights into the day-to-day challenges children living with rare diseases face.

Methods

We conducted semistructured one-to-one interviews with 11 children and young people (7–16 years) diagnosed with a range of rare diseases, purposively sampled from a tertiary pediatric healthcare setting in Ireland. We analyzed the interview transcripts, and themes were devised inductively.

Results

Two themes were identified: “Knowledge and Understanding of Rare Diseases” and “Fitting in Versus Feeling Different.” These themes emerged across various settings—the home, hospital, school, and social environments—to illustrate the impact of rare diseases on the participants' daily lives. A conceptual framework was developed to illustrate how the children's knowledge, experiences, and emotions shape their identity in a rare disease context.

Conclusions

Our analysis revealed a complex interplay between the participants' sense of belonging and their awareness of being different, influenced by the manifestations and demands of their rare conditions or illnesses. This duality in their identity was most pronounced in social settings, where the participants felt the most significant impact of their rare diseases. Understanding this interplay sheds light on the unique social challenges children with rare medical conditions face. Raising awareness about these conditions could mitigate these children's social challenges, fostering a more inclusive society for those with rare diseases.