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Living with a hereditary disease: persons with muscular dystrophy and their next of kin
Örebro University, Department of Nursing and Caring Sciences.
Örebro University, Department of Nursing and Caring Sciences.
2005 (English)In: American Journal of Medical Genetics, ISSN 0148-7299, E-ISSN 1096-8628, Vol. 136A, no 1, p. 17-24Article in journal (Refereed) Published
Abstract [en]

This qualitative study describes conceptions and experiences of the hereditary aspect of muscular dystrophy (MD) from both the patients' and the next of kin's perspective. Different diagnoses of MD are included: dystrophia myotonica, myopathia distalis tarda hereditaria, Becker MD, facioscapulohumeral MD, limb-girdle MD, Emery-Dreifuss and undetermined proximal MD (Duchenne MD is not included). Interviews were conducted with 46 persons with MD and 36 next of kin. The interviews were subjected to inductive content analysis. Only two in each group did not spontaneously mention anything related to the fact that MD is disease with dominant or recessive inheritance. It was found that heredity has a prominent place in the thoughts and feelings of the family. These thoughts were classified as Becoming aware of MD and its hereditary nature, looking into the pedigree, acquiring an understanding of MD, thoughts about genetic testing, interpreting the risk, whether to have children or not, feelings related to the future, and feelings of responsibility and guilt. Families with MD need medical information and the opportunity for genetic testing as well as support and counseling in coming to terms with living with a hereditary disease, whether or not that includes a decision to take a test.

Place, publisher, year, edition, pages
Hoboken, N.J.: Wiley-Liss , 2005. Vol. 136A, no 1, p. 17-24
National Category
Social Sciences Interdisciplinary Nursing
Research subject
Nursing Science
Identifiers
URN: urn:nbn:se:oru:diva-2820DOI: 10.1002/ajmg.a.30762PubMedID: 15889411OAI: oai:DiVA.org:oru-2820DiVA, id: diva2:134667
Available from: 2005-05-04 Created: 2005-05-04 Last updated: 2018-01-13Bibliographically approved
In thesis
1. Living with deteriorating and hereditary disease: experiences over ten years of persons with muscular dystrophy and their next of kin
Open this publication in new window or tab >>Living with deteriorating and hereditary disease: experiences over ten years of persons with muscular dystrophy and their next of kin
2005 (English)Doctoral thesis, comprehensive summary (Other academic)
Alternative title[sv]
Att leva med en progressiv och ärftlig sjukdom : erfarenheter utifrån ett tioårsperspektiv från personer med muskeldystrofi och deras närmaste anhörig
Abstract [en]

The overall aim of this thesis was to elucidate haw persona with muscular dystrophy (MD) and their next of kin experience and describe their daily lives over the last ten years. MD is a group of inherited disorders characterised by muscular weakness caused by muscle wasting. Both qualitative and quantitative methods were used. Forty-isx individuals with MD and 36 next of kin were interviewed (Studies I, III, IV). Both groups completed the questionnaire Subjective Quality of Life (SQoL), (Study V). Persons with MD also completed the questionnaires Sickness Impact Profile and Self-report ADL (Study II). The interviews were subjected to qualitative content analysis. The persons with MD described the change from being independent to being an individual in need of assistive devices and/or personal support to manage activities of every day life (StudyI). Besides muscular weakness persons with MD have hte strain it means to have a hereditary disease, which also affects the family (Study III). The deterioration during a decennium was primarily with regard to ambulation. The number of persons walking without assistive devices has decreased from 40 to 23 and that of those working has almost been halved, from 21 to 11 (Study II). Next of kin have a special vulnerability in form of an emotional and practical lonliness in addition to actual and anticipatory losses. The relationship was described as related to obligation and/or love. To have an orientation towards tasks (obligation) was linked to a feeling of being weighed down by demands, while having an orientation towards relationship (love) was linked to a feeling of quality in life (Study IV). The persons with MD scored lower on most items in the SQoL than the next of kin (Study V). Patients without a partner scored lower on QoL as a whole than those with a partner. Those with an early onset of disease scored lower on personal economy. Next of kin who gave daily help assessed their relationships to friends lower than those who gave weekly help (Study V). This thesis provides knowledge of the trajectory with MD over time on the basis of a ten-year follow up. It also broadens the knowledge of how the hereditary aspect is experienced both by those with MD and their next of kin. How the next of kin of adult persons with MD experience their situation is an issue that has been overlooked in previous research.

Place, publisher, year, edition, pages
Örebro: Örebro universitetsbibliotek, 2005. p. 88
Series
Studies from The Swedish Institute for Disability Research, ISSN 1650-1128 ; 15
Keywords
Social sciences, muscular dystrophy, chronic disease, ten year follow up, next of kin, ICF, activity, sickness impact, hereditary aspects, illness related problems, quality of life, multimethod, content analysis
National Category
Social Sciences Social Work
Research subject
Disability Research
Identifiers
urn:nbn:se:oru:diva-112 (URN)91-7668-427-X (ISBN)
Public defence
2005-06-03, Wilandersalen, Universitetssjukhuset, Örebro, 13:00
Opponent
Supervisors
Available from: 2005-05-04 Created: 2005-05-04 Last updated: 2017-10-18Bibliographically approved

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