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RARE Event  Evaluating the Key Challenges to Advance Commercialisation & Patient Access Holiday Inn Kensington Forum, London, UK Workshop: 17 October 2019 Conference: 15 - 16 October 2019 www.orphandrugs.co.uk/rrm As the co-chairs of the 9th Annual Conference on Orphan Drugs & Rare Diseases, SMi are very pleased to invite you to attend this event, which will be taking place on 15th and 16th October in London. This conference will bring together a broad spectrum of experts from across the orphan drug world. The two-day compact agenda will offer a series of presentations, through which you will gain key insights into current trends and innovations in orphan drug development, using real world case studies to illustrate challenges and opportunities. The rare and ultra-rare disease landscape is constantly changing as new diagnostic and therapeutic technologies emerge and partnerships are developed to address patient access and funding issues. At the conference, speakers from patient organisations, pharmaceutical R&D companies, health technology assessment groups, and others will lay out the current landscape and address how the orphan drug space will develop as the century continues. Delegates will gain invaluable insights on major topics including:
Following the conference there will be a half-day workshop where delegates will deep dive into strategies for accelerating patient access to orphan drugs, addressing issues, opportunities and barriers, that are met when developing a product for patients with rare diseases. To view the full details of the 2-day conference agenda, half-day workshop and the expert speaker line-up, please view the brochure here www.orphandrugs.co.uk/rrm HOW TO REGISTER For more details and to register visit: www.orphandrugs.co.uk/rrm Email the completed booking form from the brochure and email it to the events team at: events@smi-online.co.uk If you are interested in joining SMi as a sponsor/exhibitor, there are still a few sponsor packages available to suit your business needs, please contact Alia Malick, Director on +44 (0) 207 827 6168 today or email amalick@smi-online.co.uk Mike Page one of the co-chair's of the conference, looks forward to personally welcoming you and having fruitful discussions at this must-attend event in London in October. Co-Chairs for 2019 Conference:
#SMiOrphanDrugs Please share the event details with your colleagues who may also benefit from attending the conference! www.orphandrugs.co.uk/rrm
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How social support improves quality of life for adults with rare genetic skin conditions: My story.3/9/2019
No-one understands my condition, so no-one knows how to help BackgroundStudy Aims 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. Graph 1  Social support 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 2  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
Conclusion 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. Acknowledgments
A very big thank you to the organisations who have supported and promoted this research study Rare revolution Genetic Alliance UK EHLERS DANLOS SUPPORT UK Teddington Trust Findacure |
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July 2021
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