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The Subjective Experience of Patients Diagnosed with Hereditary Hemorrhagic Telangiectasia: a Qualitative Study
Author(s) -
Geerts Laura,
FantiniHauwel Carole,
Brugallé Elodie,
Boute Odile,
Frénois Frédéric,
Defrance Lydie,
ManouvrierHanu Sylvie,
Petit Florence,
Antoine Pascal
Publication year - 2017
Publication title -
journal of genetic counseling
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.867
H-Index - 52
eISSN - 1573-3599
pISSN - 1059-7700
DOI - 10.1007/s10897-016-0033-z
Subject(s) - telangiectasia , worry , medicine , genetic counseling , interpretative phenomenological analysis , context (archaeology) , genetic testing , disease , qualitative research , perception , clinical psychology , pediatrics , psychiatry , psychology , dermatology , pathology , anxiety , paleontology , social science , neuroscience , sociology , biology , genetics
The aim of the present study was to understand the context and psychological impact for patients diagnosed with hereditary hemorrhagic telangiectasia (HHT). Semi‐structured interviews were conducted with 9 patients affected by HHT, and the transcripts were analyzed using interpretative phenomenological analysis. The results of this study allowed us to propose a new hypothesis to explain the delay in diagnosis: the trivialization of symptoms associated with HHT. Moreover, the results showed that a genetic diagnosis of HHT results in emotional shock, uncertainty about the future, and worry about one's children in parents who are confronted with the dilemma of facing the reality of the diagnosis or delaying dealing with the diagnosis until disease onset. Family and personal perceptions of the disease influenced not only the delay in diagnosis but also the emotional and behavioral reactions of patients following a genetic diagnosis.