Titre :

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

Auteur(s) :

Brugalle, Elodie [Auteur]
Laboratoire Sciences Cognitives et Sciences Affectives - UMR 9193 [SCALab]
Antoine, Pascal [Auteur]
Sciences Cognitives et Sciences Affectives (SCALab) - UMR 9193
Geerts-Crabbe, Laura [Auteur]
Laboratoire Sciences Cognitives et Sciences Affectives - UMR 9193 [SCALab]
Bellengier, Laurence [Auteur]
Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 [RADEME]
Manouvrier, Sylvie [Auteur]
Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364
Fantini-Hauwel, Carole [Auteur]
Faculté des Sciences [Bruxelles] [ULB]

Titre de la revue :

Disability and Rehabilitation

Nom court de la revue :

Disabil Rehabil

Pagination :

1-8

Date de publication :

2019-12-01

ISSN :

1464-5165

Mot(s)-clé(s) :

Congenital heart defect
psychosocial impact
limb anomalies
interpretative phenomenological analysis
rare disease

Discipline(s) HAL :

Sciences du Vivant [q-bio]

Résumé en anglais : [en]

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 ...
Lire la suite >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. Semistructured interviews with ten participants diagnosed with HOS were conducted in France and analyzed using interpretative phenomenological analysis. 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. 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.Lire moins >

Langue :

Anglais

Audience :

Internationale

Vulgarisation :

Non

Établissement(s) :

CHU Lille
CNRS
Université de Lille

Collections :

• Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364
• Sciences Cognitives et Sciences Affectives (SCALab) - UMR 9193

Date de dépôt :

2021-09-02T07:02:09Z
2021-09-22T09:35:34Z