Study Aims
The aim of this research study is to explore the relationship between quality of life and social support for adults living with rare genetic skin conditions, and to gain a better understanding of the psycho-social needs of the wider rare disease community. Ultimately the hope is that this study will contribute to an improvement in care and support which is both person-centred and empowering.  
 
There are increasing calls for public participation and engagement in practice and research initiatives. This has created a culture of collaboration between:

1. The rare diseases community
2. Health and social care professionals
3. The life science or pharmaceutical industries.

This collaboration provides the potential for a powerful and dynamic triad which embeds public engagement and involvement in health and social care research and practice.
 
Triangulation - the dynamic triad
Different fields of practice will use different methods of engagement, however bringing together different approaches can result in producing outcomes which can strengthen the findings of a study or initiative. Triangulation or mixed-methods research is an approach which uses more than one kind of method in each study.

Using triangulation as a methodology may not always be to seek consensus about a given research question. This type of mixed methods designed can enable a study phenomenon to be viewed from different perspectives. It can provide the opportunity for the researchers to undertake multiple ways of analysing and interpreting different data sets.  There are three main methods of triangulation that researchers and practitioners may consider:
 

• Across studies, may include studies in different organisations which may have a common or related objective:  for example, studies which are conducted in health, social care and the pharmaceutical science industry

 

• Across disciplines, may include a single study which could explore a subject from the perspectives of practitioners from different disciplines: for example, health, nursing and therapy teams

 

• Within study triangulation involves the use of different methods within a single study, such as a literature review, an on-line survey and interviews.

This single study is a case study of adults living with rare genetic skin conditions and used triangulation by adopting a within study mixed-methods design. The rationale for this was to provide a more in-depth analysis of the study group, to strengthen the outcomes and contribute to the body of knowledge related to the psycho- social needs of the rare disease community.
 
A deeper understanding of community engagement
Convergence could be described as the point where different methods within the study identify complementary findings. Using a within-study triangulation methodology this study synthesized the findings from the literature review the on-line survey and interview data sets. The convergence of all the data sets identified that the role of the family strong theme. Providing family support to enable care givers to support the person living with the rare disease, can enable and empower individuals and families to become more involved in research and Public Participation Initiatives.

​Powerful Story telling
The final stage of this study included eight semi-structured interviews of adults with rare genetic skin conditions.  The participants were able to tell their very powerful stories and described their experiences of social isolation and the impact of the general lack of understanding about their rare conditions. One participant spoke very powerfully about her perception of feeling stigmatised. The theme of stigma had been identified in the first stage of this study: the literature review.

​Many people living with the effects of a rare disease are challenged by having a physical disability: the addition of psycho-social challenges, may discourage them from engaging in research or health and social care initiatives.  A deeper understanding of the support systems which are needed by the Rare Disease Community is an essential ingredient to enable empowerment and to facilitate successful engagement. 

​Before Sean was diagnosed and his health began to fail, he was a founder and an executive at a variety of international high technology companies. Sean is now channeling his tech skills in the creation of philanthropic ventures targeted to serving the rare disease community.

One of these ventures, called Rare Funding Team (www.rarefundingteam.com), matches rare disease organisations with digital marketing professionals. Sean observed that many patient organisations are fueled by passion and emotional energy but often lack financial and professional resources. Rare Funding Team provides a platform where critical partnerships can be made in areas of marketing communications, graphics, IT, management and law. Sean is open and ready to collaborate with others for the advancement of the rare disease community so watch this space...

1. Benjamin et al. (2017). Patient-Reported Outcome and Observer-Reported Outcome Assessment in Rare Disease Clinical Trials: An ISPOR COA Emerging Good Practices Task Force Report: https://www.valueinhealthjournal.com/article/S1098-3015(17)30264-4/pdf (accessed 10 January 2020

2. Alliance for Regenerative Medicine (2019). Getting Ready: Recommendations for Timely Access to Advanced Therapy Medicinal products (ATMPs) in Europe: http://alliancerm.org/wp-content/uploads/2019/07/ARM-Market-Access-Report-FINAL.pdf ( accessed 10 January 2020
 
3. Evaluate (2019). Orphan Drug Report 2019: https://www.evaluate.com/thought-leadership/pharma/evaluatepharma-orphan-drug-report-2019 ( accessed 10 January 2020
 
4. Lampert et al. (2016). Thirty Years of Orphan Drug Legislation and the Development of Drugs to Treat Rare Seizure Conditions: A Cross Sectional Analysis: https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0161660 ( accessed 10 January 2020)

5. Budych et al. (2012). How do patients with rare diseases experience the medical encounter? Exploring role behavior and its impact on patient–physician interaction: https://www.sciencedirect.com/science/article/pii/S0168851012000644?via%3Dihub ( accessed 10 January 2020)

6. AMICULUM (2014). Communication strategies for rare diseases: uncommon opportunities: https://www.comradis.biz/media/1002/communication-strategies-for-rare-diseases-comradis.pdf ( accessed 10 January 2020)

7. Blay et al. (2016). The value of research collaborations and consortia in rare cancers: https://www.sciencedirect.com/science/article/pii/S1098301517302644 ( accessed 10 January 2020)

8. Price et al. (2016). What Can Big Data Offer the Pharmacovigilance of Orphan Drugs? https://www.clinicaltherapeutics.com/article/S0149-2918(16)30847-5/pdf ( accessed 10 January 2020)
 
9. Polich et al. (2012). Rare disease patient groups as clinical researchers: https://www.sciencedirect.com/science/article/pii/S1359644611003357?via%3Dihub ( accessed 10 January 2020)

10. Hollak et al. (2011). Limitations of drug registires to evaluate orphan medicinal products for the treatment of lysosomal storage disorders: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3102605/pdf/1750-1172-6-16.pdf ( accessed 10 January 2020)

11.    Giannuzzi et al. (2017). Orphan medicinal products in Europe and United States to cover needs of patients with rare diseases: an increased common effort is to be foreseen: https://ojrd.biomedcentral.com/articles/10.1186/s13023-017-0617-1   ( accessed 10 January 2020)