The concept of patient advocacy organizations and its added-value in the rare disease area is certainly not new. However, a new trend may well be that advocacy initiatives are increasingly becoming the topic of a scientific publication. Many publications are (co-)authored by patient advocates themselves.
Last week I attended a meeting in London and shared with the audience an overview of the role of rare disease patient organizations in biomedical research. This role is also known as the fourth role and complements the three classical roles that the majority of patient organizations fulfill: Peer support, Patient advocacy and Information. As EURORDIS revealed in 2009 in one of its surveys the fourth role by patient advocacy groups is rule rather than exception. Their survey revealed that 37% of 309 organizations financially supported research. Moreover, the contribution of patients to advances in biomedical research is much more than simply funding.
While preparing for my presentation I did a background search on rare disease patient advocacy in Pubmed. I was especially interested to find out whether scientific literature is also being used to clarify the fourth role mentioned above. My Pubmed search (or actually multiple searches, but who is counting) eventually resulted in 14 citations with a specific patient advocacy initiative as the main topic (see below). Furthermore, these citations were complemented by several papers that provided a high-level description of the fourth role of patient organization in the field of rare diseases.
What I really liked about having an overview like this is that it allowed me to identify some commonalities. For example, what becomes clear is that the starting point of an advocacy initiative is often if not always to reach out to patients, researchers, clinicians and to build a community. As Colledge and Solly clearly mention the aim is to “generate a sense of a single BHD community, removing barriers”. This makes perfect sense, considering the problem that many rare disease patients/families face and which is eloquently defined by Terry: “No one knew how this disease progressed; no comprehensive plan to study the disease, nor was there a plan emerging; no one knew how many people had the treatment; there was no treatment, the gene had not even been discovered yet”.
This community building can take the shape of a conference or meeting as described for neuroacanthocytosis, but can also be virtual and take the shape of a wiki as is the case for Marshall-Smith syndrome. Those that have been around for some while often have gone on to build patient registries and/or generate and maintain biobanks, for example the Chordoma Foundation.
What came to me as rather a surprise was the actual publication date of the papers. Ten of the fourteen papers were published in the last 2 years. In the table below I have provided an overview of my search together with hyperlinks to abstracts (and full papers where available). These “case studies” may serve as a source of inspiration to patient organizations that are currently considering to play a more active “fourth” role in biomedical research. To overcome potential language obstacles with non-English-speaking patient organizations, perhaps an idea would be to provide translations of papers through the RareConnect service of NORD and EURORDIS.
NOTE: Another example was supplied by:
22q 11 Ireland Support Group in 2014: Developing an information leaflet on 22q11.2 deletion syndrome for parents to use with professionals during healthcare encounters.
- Start small Think big
- Rare disease charities go beyond pump-priming research
- Ireland may be green, but its way of funding rare disease research is certainly not
- Patient-initiated research foundations: A source of funding, but more importantly a continuous source of inspiration
To receive the monthly newsletter:Subscribe to newsletter