No-one understands my condition, so no-one knows how to help
The aim of this study is to explore the relationship between quality of life and social support for adults living with rare genetic skin conditions.
Case study research: telling your story
Each rare genetic condition has a range of physical features: many conditions can have a devastating impact on everyday life. Each person living with the effects of a rare genetic condition has a story to tell about their personal journey through the health and social care system, from diagnosis to treatment. One case study can tell an individual story which as has the power to touch hearts, changed minds and influence policy.
A case study is a research method involving an up-close, in-depth, and detailed examination of an individual, a group of people or subject under investigation. By using a case study approach, the personal views of the participants are explored and any similarities or themes are highlighted in this study.
The social impact of living with a rare genetic condition
The social impact of living with a rare disease is often overlooked, and the psycho-social complexities of rare diseases can be misunderstood. The social effects are far reaching and can include a significant financial burden, an impact on family life, on coping, it may also result in stigma and social isolation.
Most of the focus on the effects of rare diseases, is dominated by the medical aspects of the conditions, with relatively little attention paid to the social impact on the individual, carers and families. The medical model of health is largely concerned with physical or biological aspects of disease and illness. By comparison, the social model of health considers non-medical factors which contribute to health outcomes.
Literature review - Initial research findings
This study began with a literature review which highlighted one key outcome (1) that ‘informational support’ which is provided, and expressed using good communication, had the strongest correlation with perceived quality of life.
Informational support is the provision of advice, guidance, suggestions, or useful information to someone. This type of information has the potential to help others problem-solve (2).
Emotional Support is the offering of empathy, concern, affection, love, trust, acceptance, intimacy, encouragement, or caring. It is the warmth and nurturance provided by sources of Social Support. It is also referred to as ‘Esteem Support’ or ‘Appraisal Support’
Instrumental Support is the provision of financial assistance, material goods, or services. This form of social support encompasses the concrete, direct ways people assist others. Also known as Tangible Support.
Companionship support is the type of support that gives someone a sense of social belonging. This can be seen as the presence of companions to engage in shared social activities.
The findings from the literature provided a context for the next stage of the study, which was to determine what kind of social support adults with rare genetic skin conditions required.
Once a diagnosis of EDS is handed to you, that is more or less where it stops in terms of support
On-line survey – initial results
This stage of the study included thirty-one participants who shared their experiences by completing an on-line survey. Eight participants were then selected to take part in an in-depth telephone interview. The group were characterised by rare conditions affecting the skin and connective tissue.
Those participants who completed the on-line survey were adults over the age of 18 years, with diagnosed conditions including Atopic Eczema, Brooke Spiegler Syndrome, Cutaneous Mastocytosis, CYLD Cutaneous Syndrome, Ehlers-Danlos Syndrome, Epidermolysis Bullosa, Incontinenia Pigmenti, Hypermobility Spectrum Disorder, Lamellar Ichthyosis, Neurofibromatosis 1, Ichthyosis Bullosa of Siemens.
The focus of the on-line survey was to discover what social support the participants were receiving and who provides that support. The participants were invited to rate their perception of the overall quality of the social support they receive. Initial analysis of the participants’ responses indicated that there is a relationship between social support and quality of life.
The participants were asked to consider support from family members, neighbours, support groups, religious groups and friends. The responses are highlighted in Graph 2, indicating that 23% of the group felt that their social support was ‘poor’.
A comment from one of the participants gave some insight into why some of the group rated the social support as ‘poor’. The lack of recognition and support by official bodies is highlighted by one participant living with epidermolysis bullosa.
More recognition and support from official bodies e.g. councils
Graph 3 highlights the participants’ response to who provides them with social support, highlighted a lack of support from social care professionals. One common theme among the participants was the important role the family had in providing social support, particularly with regard to emotional support. One participant shared her experience of the emotional support she needs, due to the psychological effects of looking different.
There is a distinct lack of social sympathy for my sort of disfigurement
Initial key findings
The call for integrated support for people with rare genetic conditions has been widely promoted. The need for a bio-psycho-social approach to the management of conditions is paramount. There is a lack of high quality qualitative or mixed methods research into the lived experience of those living with the effects of rare conditions. The rare disease community are experts in their own experience; their stories and perspectives have to be taken into consideration in order to address the their needs and provide effective social support.
Rare Revolution Editor