Growing up with a rare genetic disease: an interpretative phenomenological analysis of living with Holt-Oram syndrome

Background: Holt-Oram syndrome (HOS) is a rare genetic disease characterized by variable radial upper limb and cardiac defects. The aim of this research was to shed light on people's subjective perceptions of their diseases, how these perceptions provide meaning, and the consequences the syndrome can have in daily life and across all life stages. Methods: Semistructured interviews with ten participants diagnosed with HOS were conducted in France and analyzed using interpretative phenomenological analysis. Results: Participants' experiences fall under two main themes, namely, "stages of self-construction as different" and "when I am no longer the only one involved", each of which has three subthemes. From childhood onwards, symptoms monopolize the physical and psychological spheres. The feeling of being different is unavoidable until the patient can appropriate his or her condition, and by the end of adolescence, the patient generally feels that he or she has adapted to the syndrome. In adulthood, other concerns arise, such as the fear of rejection, the need to better understand the genetic issues of the condition and the desire for offspring to not experience the same life difficulties. Conclusion: The findings underscore the specific psychological issues associated with the syndrome at different life stages and the need for holistic genetic treatment with dedicated reference centers to improve care and further address these issues.