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Open Access 01-12-2024 | Research article

The experience of albinism in France: a qualitative study on dyads of parents and their adult child with albinism

Authors: Hugo Fournier, Marie Hasdenteufel, Constance Garrouteigt, Mathieu Perie, Antoine Gliksohn, Béatrice Jouanne, Smail Hadj-Rabia, Benoit Arveiler, Fanny Morice-Picard, Bruno Quintard

Published in: BMC Medicine | Issue 1/2024

Abstract

Background

To date, almost no research on the psychosocial implications of albinism has been conducted in France and an exploration of albinism-related experiences could be beneficial, in order to better understand this condition. The aim of this study was to examine how French people with albinism and their parents live with and adapt to this condition in all the areas of their lives.

Methods

Semi-structured phone interviews were conducted with 9 parent-child dyads, each participating separately. Participants were recruited by convenience sampling, thanks to the combined efforts of a patient association (Genespoir) and professionals from the partner medical referral centers involved in the project. Dyads in which the individual with albinism had any comorbidity were excluded. The interviews were then transcribed and subjected to in-depth thematic analysis. Two codebooks were constructed in a mirrored process: one for people with albinism; the other for their parents. They were finally merged at the end of the coding step.

Results

Four main categories were identified: personal perceptions and social representations of albinism, difficulties and obstacles encountered by people with albinism, resources and facilitators, and the importance of parent-child functioning. The results indicated that experiences of stigmatization during childhood and adolescence are common and that people with albinism face challenges in adapting to certain obstacles related to their visual impairments (VI) (e.g., inability to drive a car; eye strain...). Parents emerged as one, if not as the main, source of support for people with albinism throughout their development. Although external support systems exist to assist them in various aspects of their lives, some of them primarily rely on their own personal resources to cope.

Conclusions

This research highlights the importance of a systemic and transdisciplinary approach to make sure families receive the support that best meets their needs.

Available only for authorised users

The letters indicate status of the participant (PWA, person with albinism; P, parent), and the number refers to the dyad’s identifier.

Pedagogical integration units (PIUs) enable the collective inclusion in regular middle schools or high schools, of students who may struggle with the sometimes-substantial challenges of an individual integration.

SAAAS (in English, Service for Support in Autonomy and Education) is a French service that provides support and assistance to individuals with sensorial disabilities in order to promote their autonomy and facilitate their educational integration.

https://www.underthesamesun.com/content/resources

Rare Diseases Reference Centers (in French, Centre de Références des Maladies Rares) are specialized hospital teams that gather experts with proven expertise in a specific rare disease or a group of rare diseases.

Depending on the patient and the disease, the diagnosis can be more or less straightforward. Successfully diagnosing rare diseases is a very complicated task and is not devoid of errors or delays. In France, the Rare Disease Alliance conducted an investigation on diagnostic odyssey, revealing that a quarter of patients wait at least 4 years before receiving a definitive diagnosis [146].

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Title: The experience of albinism in France: a qualitative study on dyads of parents and their adult child with albinism
Authors: Hugo Fournier
Marie Hasdenteufel
Constance Garrouteigt
Mathieu Perie
Antoine Gliksohn
Béatrice Jouanne
Smail Hadj-Rabia
Benoit Arveiler
Fanny Morice-Picard
Bruno Quintard
Publication date: 01-12-2024
Publisher: BioMed Central
Published in: BMC Medicine / Issue 1/2024
Electronic ISSN: 1741-7015
DOI: https://doi.org/10.1186/s12916-024-03251-z

Keynote webinar | Spotlight on medication adherence

Springer Medicine

The experience of albinism in France: a qualitative study on dyads of parents and their adult child with albinism

Abstract

Background

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

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