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'In the dark': parents' lifelong commitment to supporting children with Bardet-Biedl syndrome
Jeanette Ullmann Miller1, Lena Fauske2,3, Solrun Sigurdardottir1
1Centre for Rare Disorders, Oslo University Hospital, Oslo, Norway.
Insights
Parents of adults with Bardet-Biedl syndrome (BBS) face unique challenges, acting as advocates and companions while navigating support systems. Their experiences highlight crucial needs for improved care and social integration for individuals with BBS.
Area of Science:
- Medical Genetics
- Rare Diseases
- Caregiver Studies
Background:
- Bardet-Biedl syndrome (BBS) is a rare genetic disorder characterized by a spectrum of symptoms including vision loss, kidney dysfunction, obesity, and developmental delays.
- Understanding the multifaceted roles and challenges of family caregivers is crucial for developing effective support strategies for individuals with BBS.
Purpose of the Study:
- To explore the lived experiences of parents caring for adult children diagnosed with Bardet-Biedl syndrome.
- To identify the key challenges, responsibilities, and support needs of parents in managing the care of adults with BBS.
Main Methods:
- Qualitative research design utilizing semi-structured interviews with 17 parents of adult children with BBS.
- Reflexive thematic analysis, incorporating phenomenological and hermeneutical approaches, for data interpretation.
Main Results:
- Four major themes emerged: parental concerns about the future, the dual role of advocate and companion, navigating the healthcare and support systems, and identifying sources of support and coping mechanisms.
- Parental involvement significantly impacts the daily lives and well-being of adults with BBS, often involving active advocacy for health services and social connections.
Conclusions:
- Parents of adults with BBS play vital roles in care coordination and addressing gaps in services and social support.
- Findings offer critical insights for healthcare professionals and support organizations to enhance services and interventions for adults with BBS and their families.
Background:
Bardet-Biedl syndrome (BBS) is a rare disorder involving a complex combination of eye and kidney diseases, obesity and learning difficulties. To better understand the roles of family caregivers, this study sought to explore parents' experiences of supporting adult children with BBS.
Method:
This study included 17 parents of adult children with BBS. Semi-structured interviews were used as the research method. The generated data were interpreted using a reflexive thematic analysis, which employed a phenomenological and hermeneutical approach.
Result:
Four themes were identified - namely, worries and expectations for the child's future, advocate and companion, in the power of the health and support system, and sources of support and coping. The findings indicate that the parents' everyday lives are affected in many ways by caring for adult children with BBS.
Conclusion:
This study highlights the various roles and responsibilities of parents of adult children with BBS, including advocating for health services and attempting to fill gaps in care and social relationships. Hence, the findings of this study provide valuable insights for health professionals and support systems, helping to identify key areas for future initiatives aimed at better addressing the needs of adults with BBS and their parents.
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