Journal of Genetic Counseling

, Volume 26, Issue 3, pp 612–619 | Cite as

The Subjective Experience of Patients Diagnosed with Hereditary Hemorrhagic Telangiectasia: a Qualitative Study

  • Laura Geerts
  • Carole Fantini-Hauwel
  • Elodie Brugallé
  • Odile Boute
  • Frédéric Frénois
  • Lydie Defrance
  • Sylvie Manouvrier-Hanu
  • Florence Petit
  • Pascal Antoine
Original Research
  • 153 Downloads

Abstract

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.

Keywords

Hereditary hemorrhagic telangiectasia Hereditary disease Genetic diagnosis Diagnosis delay Psychological consequences Children transmission 

Notes

Compliance with Ethical Standards

Funding

This study was funded by the “French Foundation for Rare Diseases/Fondation Maladies Rares”, the “National Solidarity Fund for Autonomy/Caisse Nationale de Solidarité pour l’autonomie”(CNSA), and the “Directorate general for Health/Direction Générale de la Santé”.

Conflict of Interest

Laura Geerts, Carole Fantini-Hauwel, Elodie Brugallé, Odile Boute, Frédéric Frénois, Lydie Defrance, Sylvie Manouvrier-Hanu, Florence Petit, and Pascal Antoine declare that they have no conflict of interest.

Human Studies and Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study.

Animal Studies

No animal studies were carried out by the authors for this article.

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Copyright information

© National Society of Genetic Counselors, Inc. 2016

Authors and Affiliations

  • Laura Geerts
    • 1
    • 2
  • Carole Fantini-Hauwel
    • 1
    • 2
  • Elodie Brugallé
    • 2
  • Odile Boute
    • 3
  • Frédéric Frénois
    • 3
  • Lydie Defrance
    • 2
  • Sylvie Manouvrier-Hanu
    • 3
  • Florence Petit
    • 3
  • Pascal Antoine
    • 2
  1. 1.Université Libre de BruxellesBruxellesBelgium
  2. 2.Université de Lille, CNRS, UMR 9193 - SCALab - Sciences Cognitives et Sciences AffectivesLilleFrance
  3. 3.Université de Lille, CHU Lille, EA 7364 - RADEME - Maladies RAres du Développement Embryonnaire et du Métabolisme : du Phénotype au Génotype et à la FonctionLilleFrance

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