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

Brugallé, Elodie; Antoine, Pascal; Geerts, Laura; Bellengier, Laurence; Manouvrier‐Hanu, Sylvie; Fantini‐Hauwel, Carole

doi:10.1080/09638288.2019.1697763

Cited by 3 publications

(2 citation statements)

References 44 publications

(57 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Existing knowledge about children with RD describes the psychosocial experiences of their families and caregivers [ 16 , 17 ] yet the child with RD must remain the focal point. Children with RD are more likely to encounter significant challenges in their functioning at home, at school, and in their community [ 18 ]. However, there is scant research characterizing the child’s own experiences.…”

Section: Resultsmentioning

confidence: 99%

Psychosocial Considerations for the Child with Rare Disease: A Review with Recommendations and Calls to Action

et al. 2022

View full text Add to dashboard Cite

Rare diseases (RD) affect children, adolescents, and their families infrequently, but with a significant impact. The diagnostic odyssey undertaken as part of having a child with RD is immense and carries with it practical, emotional, relational, and contextual issues that are not well understood. Children with RD often have chronic and complex medical conditions requiring a complicated milieu of care by numerous clinical caregivers. They may feel isolated and may feel stigmas in settings of education, employment, and the workplace, or a lack a social support or understanding. Some parents report facing similar loneliness amidst a veritable medicalization of their homes and family lives. We searched the literature on psychosocial considerations for children with rare diseases in PubMed and Google Scholar in English until 15 April 2022, excluding publications unavailable in full text. The results examine RD and their psychosocial ramifications for children, families, and the healthcare system. The domains of the home, school, community, and medical care are addressed, as are the implications of RD management as children transition to adulthood. Matters of relevant healthcare, public policies, and more sophisticated translational research that addresses the intersectionality of identities among RD are proposed. Recommendations for interventions and supportive care in the aforementioned domains are provided while emphasizing calls to action for families, clinicians, investigators, and advocacy agents as we work toward establishing evidence-based care for children with RD.

show abstract

Section: Resultsmentioning

confidence: 99%

Psychosocial Considerations for the Child with Rare Disease: A Review with Recommendations and Calls to Action

et al. 2022

View full text Add to dashboard Cite

show abstract

“…Growing up with a rare genetic disease is associated with patients’ experiences of feeling different and fearing rejection. [ 28 ] The experiences of patients with dystonia also showed that they experienced psychosocial fears caused by the stigma of the disease and, in other words, rejection. [ 29 ] In the present study, all participants had experiences of disapproval or discrimination in their community and being strange in people's eyes.…”

Section: Discussionmentioning

confidence: 99%

Persistent suffering: Living experiences of patients with rare disease: An interpretative phenomenological study

Jouybari¹,

Rezaei²,

Sanagoo³

et al. 2023

Journal of Education and Health Promotion

View full text Add to dashboard Cite

BACKGROUND: The low prevalence of rare diseases has caused the need for studies in this field to be neglected. Regardless of the prevalence of rare diseases, many people around the world have to live with the medical, psychological, and social consequences of their condition. Individuals with rare diseases may face challenges that are different from those experienced in more common medical conditions. The life experiences of patients with rare diseases have not been sufficiently investigated. The purpose of this study was to discover the meaning of living as a person with a rare disease. MATERIALS AND METHODS: This interpretative phenomenological study was conducted in 2021–2022 on 10 patients with one of the rare diseases (registered in the Atlas of Rare Diseases of Iran). Based on purposeful sampling, people with rare diseases living in Mazandaran, Golestan, and Tehran provinces were invited to participate in the study. Data collection was done using open and semi-structured interviews. The research question was exploring understanding the experience and meaning of life as a person with a rare disease. Van Manen's interpretive phenomenological approach was used to analyze the data, and the criteria of validity, transferability, and verifiability were used to ensure the trustworthiness of the research. RESULTS: The five main themes “permanent suffering, such as a bird in a cage, rejection, immersion in the whirlpool of thoughts, losing the feeling of life”, and 10 sub-themes “nightmare, giving up, deprivation, limitation, worthlessness, being stigmatized, dark vision, confusion, continuous regret, and inferiority feeling” were extracted. CONCLUSION: The results of this study show that the suffering of the disease casts a shadow on all aspects of a patient's life with a rare disease. The effects of illness, disability, limitations, and exclusions had created a human being in a cage, whose right to live like others has been denied.

show abstract

Interpretative Phenomenological Analysis in Genetics Research

Starr

Smith

2021

Encyclopedia of Life Sciences

View full text Add to dashboard Cite

Interpretative phenomenological analysis (IPA) is a qualitative approach to psychological research with epistemological roots in phenomenology, hermeneutics and idiography. IPA involves an in‐depth focus on phenomena from the perspective of the lived experience of participants who are considered in their social and personal contexts. IPA has a strong history of use in health psychology and subsequently has become popular across a wide range of research areas. IPA has been used to explore the often complex psychological issues associated with genetic and genomic science and medicine. A range of experiential questions such as how individuals perceive risk, the quandaries associated with getting a genetic test, what is felt to be helpful in genetic counselling, how people understand genetic transmission such as in the case of gamete donation, and the experiences of those living with, or affected by, genetic conditions in a plethora of ways, have all been beneficially investigated. Key Concepts Interpretative phenomenological analysis (IPA) is a qualitative approach to psychological research which allows researchers to conduct detailed explorations of how individuals make sense of their personal and social worlds. IPA is based on a commitment to explore, interpret and attempt to understand participants' situated experiences, rather than categorise, measure or quantify aspects of mental life. The psychological issues associated with genetics and genomics may be complex, emotive, dilemmatic and dynamic and present different demands upon psychological research from those generated by nongenetic areas of science and medicine. IPA was developed to be methodologically adaptive and versatile and is thus well suited to respond to the growing range of questions about health, reproduction and indeed human life generated by expanding genetic and genomic knowledge. IPA has been used to explore psychological aspects of genetics and genomics such as the perception of risk, experiences of genetic counselling, the complexities of living with a genetic condition both for affected individuals and also their families, carers and clinicians, questions associated with genetic testing and understandings of genetic transmission such as gamete donation or being a carrier of a genetic condition. Expanding genetic and genomic knowledge has led to increasing opportunities for researchers, clinicians and individuals to ask a growing range of questions about health, reproduction and indeed human life. As genetic and genomic science continues to develop, the sensitivity and flexibility conferred by IPA continue to offer a particular suitability towards this expanding area and the new or unfamiliar issues which may yet emerge.

show abstract

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

Abstract: c EA 7364-RADEME-Maladies RAres du D eveloppement et du M etabolisme: du ph enotype au g enotype et a la Fonction,

Cited by 3 publications

References 44 publications

Psychosocial Considerations for the Child with Rare Disease: A Review with Recommendations and Calls to Action

Psychosocial Considerations for the Child with Rare Disease: A Review with Recommendations and Calls to Action

Persistent suffering: Living experiences of patients with rare disease: An interpretative phenomenological study

Interpretative Phenomenological Analysis in Genetics Research

Contact Info

Product

Resources

About