Patient and Parent Experiences of Dual Genetic Diagnoses: Neurofibromatosis Type 1 and an Additional Genetic Disease

Patient and Parent Experiences of Dual Genetic Diagnoses: Neurofibromatosis Type 1 and an Additional Genetic Disease

Bibliographic Details
Main Author: Grandine, Hayley
Language:English
Published: University of Cincinnati / OhioLINK 2016
Subjects:
Genetics
Neurofibromatosis Type 1
Dual Diagnosis
Genetic Disease
Emotional Impact
Life Experiences
Online Access:http://rave.ohiolink.edu/etdc/view?acc_num=ucin1459528629
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spelling ndltd-OhioLink-oai-etd.ohiolink.edu-ucin14595286292021-08-03T06:35:19Z Patient and Parent Experiences of Dual Genetic Diagnoses: Neurofibromatosis Type 1 and an Additional Genetic Disease Grandine, Hayley Genetics Neurofibromatosis Type 1 Dual Diagnosis Genetic Disease Emotional Impact Life Experiences Dual or multiple genetic diagnoses, although uncommon, are anecdotally evident from clinical geneticists and genetic counselors, and are found in 1% of individuals who undergo whole exome sequencing. Currently, there is no published research on the impact on families and patients of having a dual genetic diagnosis. This qualitative, exploratory study involved open-ended interviews with adult patients and parents of children affected by Neurofibromatosis Type 1 and another genetic disease. The goal was to develop an initial understanding of how having a second genetic diagnosis affects this population. A total of nine individuals participated in the study: six parents who had a child with a dual diagnosis and three adults with a dual diagnosis themselves. Thematic analysis was used to identify common themes in participant responses. Results indicated that the parents were strongly emotionally impacted by the diagnoses and often felt isolated. However, the affected adults did not report these negative impacts and considered themselves to be only mildly affected by their conditions. Both findings are consistent with previous research on individuals with one genetic condition. Although the difficulties of complex medical management and navigating the healthcare system also exist for families dealing with one genetic diagnosis, these challenges may be more severe for families dealing with two. Future research can be guided by these initial findings to further explore the needs of this population. 2016-06-10 English text University of Cincinnati / OhioLINK http://rave.ohiolink.edu/etdc/view?acc_num=ucin1459528629 http://rave.ohiolink.edu/etdc/view?acc_num=ucin1459528629 unrestricted This thesis or dissertation is protected by copyright: all rights reserved. It may not be copied or redistributed beyond the terms of applicable copyright laws.
collection NDLTD
language English
sources NDLTD
topic Genetics
Neurofibromatosis Type 1
Dual Diagnosis
Genetic Disease
Emotional Impact
Life Experiences
spellingShingle Genetics
Neurofibromatosis Type 1
Dual Diagnosis
Genetic Disease
Emotional Impact
Life Experiences
Grandine, Hayley
Patient and Parent Experiences of Dual Genetic Diagnoses: Neurofibromatosis Type 1 and an Additional Genetic Disease
author Grandine, Hayley
author_facet Grandine, Hayley
author_sort Grandine, Hayley
title Patient and Parent Experiences of Dual Genetic Diagnoses: Neurofibromatosis Type 1 and an Additional Genetic Disease
title_short Patient and Parent Experiences of Dual Genetic Diagnoses: Neurofibromatosis Type 1 and an Additional Genetic Disease
title_full Patient and Parent Experiences of Dual Genetic Diagnoses: Neurofibromatosis Type 1 and an Additional Genetic Disease
title_fullStr Patient and Parent Experiences of Dual Genetic Diagnoses: Neurofibromatosis Type 1 and an Additional Genetic Disease
title_full_unstemmed Patient and Parent Experiences of Dual Genetic Diagnoses: Neurofibromatosis Type 1 and an Additional Genetic Disease
title_sort patient and parent experiences of dual genetic diagnoses: neurofibromatosis type 1 and an additional genetic disease
publisher University of Cincinnati / OhioLINK
publishDate 2016
url http://rave.ohiolink.edu/etdc/view?acc_num=ucin1459528629
work_keys_str_mv AT grandinehayley patientandparentexperiencesofdualgeneticdiagnosesneurofibromatosistype1andanadditionalgeneticdisease
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