Exploring the Impact of Living with Fanconi Anaemia & Diamond-Blackfan Anaemia: A Systemic Consideration

Aims: Amidst a growing body of medical research, little is yet known about the psychological impact of living with two rare life-limiting conditions, Fanconi Anaemia (FA) and Diamond Blackfan Anaemia (DBA). One might expect some level of impact on well-being as indicated by wider literature on other childhood illnesses. At present, understanding of this impact is limited in being generalised from other research, as therefore are the supports available. This research seeks to begin a consideration of the psychological impact, and to consider how support has been deemed.
Method: Using semi-structured interviews, parents and individuals living with FA or DBA were interviewed regarding their experiences. Thematic analysis was used to achieve an overview of these experiences.
Results: Themes identified for individuals included: 1. ‘Knowledge’, which outlined the impact of lack of knowledge and 2. ‘Illness Concept’ relating to one’s relationship to FA/DBA and how this is socially mediated. For parents, themes identified were: 1. ‘Knowledge’, which centered on uncertainty and 2. ‘Social Responses’ which related to areas of support and strain. These themes indicated an impact on individual well-being. Two joint themes were identified: 1. ‘Family Dynamics’ which outlined how relationships and family well-being may be impacted and 2. ‘Mental Health Care as Necessary but Inadequate’.
Conclusion: There was a clear impact articulated regarding the well-being of family members, individually and collectively in concerns regarding relational dynamics. There was also clear demand for psychological support which, in its current form, was generally considered inadequate. Research must be responsive in furthering efforts to establish clear and adequate pathways and a standard of care for the well-being of all families living with FA/DBA.