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.IMPLICATIONS FOR REHABILITATIONHolt-Oram syndrome is a genetic disease characterized by abnormalities of the upper limbs and shoulder girdle and associated with a congenital heart defect.Specific issues arise at different stages of life: the physical consequences of the syndrome arise during childhood, the self-construction of pervasive difference during adolescence, the fear of being rejected as a young adult, and concerns about future parenthood and the transmission of the syndrome and the desire that one's child not be confronted with the same difficulties in adulthood.The complexity and entanglement of medical and existential issues related to HOS requires the development of multidisciplinary consultations that promote holistic care.The rarity of the syndrome and the lack of knowledge about HOS among health professionals and the general public make it necessary both to establish reference centers and to create patient associations to support patients.