Rare disease patients are talking – are you listening?

Brian Loew and Sharon Terry explore the benefits of listening to the online conversations of rare disease patients and how researchers can help rare disease patients to connect for the benefit of both the patient and the researcher.

For many patients, connecting with peers who have the same medical condition is important. We've seen many forms of this fundamental behavior for a very long time: face-to-face support groups, pen pal networks, email lists, and online disease-specific social networks.

For people affected by rare conditions, however, making these connections has long been a challenge. Finding each other can seem impossible.

Since researchers traditionally initiate biomedical research, they usually focus on what they need, and sometimes do not appeal to patients' interests and desires. By no means are these sets of interests mutually exclusive. Individuals living with a condition, particularly over a long period, come to know that condition very well, albeit for an N of one.

Isn't it then a perfect union to join the lived experience of these individuals with the researchers' interests? In our minds, the right way to succeed is to first engage large numbers of people affected by conditions and diseases to determine the questions key to their health and wellbeing. Then, invited to participate in relevant research, patients are much more motivated and supportive. In this way, researchers get what they need: access to very specific, highly motivated patient populations, and patients get what they need, too: the feeling that they are real participants in and contributors to research, and not just along for the ride.

Even five years ago, it was cumbersome to engage many people from geographically diverse places. Now, through online networks, it is relatively straightforward, though a number of considerations are critical. Any system that promises to give voices to individuals, particularly those living with rare conditions, must provide a safe space, allow the individual to determine his / her comfort level with sharing and assure of privacy and confidentiality. Giving individuals the space and time to discuss their conditions with others begins to elucidate some of the important manifestations of the conditions.

Rather than too little information, the rare disease community is faced with an abundance of information. Important mechanisms are emerging for making sense of that data, and combined with medical records, lab values and images, it creates a much better basis for research on these conditions. In the early days of gene discovery it was thought that once a gene was discovered for a disease, then it would be much easier to treat that condition. This is both true and false. Understanding the genetic basis for most conditions offers a starting place to understand the pathomechanism of the disease. However, time has shown that often even single gene disorders will have enormous variation, probably resulting from modifier genes and environment. We know now that the microbiome plays a big role as well.

There is a noteworthy large and coordinated effort to tackle the problem of discovering therapies for rare conditions. The International Rare Disease Research Consortium (IRDiRC) has established a worthy goal: diagnostics for all rare conditions and therapies for 200 additional therapies with a deadline of 2020. Thirty four funding entities, including 14 countries and the EU, have each committed to investing a minimum of 10 million USD over five years in research projects/programs contributing towards IRDiRC objectives.

Such commitment to research on rare conditions is welcome. However, a few more elements are necessary. Both grassroots communities –those of us whose lives are affected directly by rare conditions – and leadership from governments and companies must decide this is not "business as usual."

In order to capitalize on this immense infusion of resources for alleviating suffering from rare conditions, we must not use the same well-trodden path toward therapies, but forge new ones. Drug development for common conditions is suffering mightily these days – too expensive for too little return over too long a period. Rare diseases are a perfect place to create a new and productive model. Creating the new research and business models that will allow data sharing, mining negative results, and alignment of incentives to accelerate discovery and development, is essential.

Let's make the most of this opportunity. It will require risking stepping out of our comfort zone – a small price to pay when families risk much more every day.

About the authors:

Brian Loew is CEO of Inspire. Loew created the company in 2005 with the goal of accelerating clinical trial recruitment through the use of safe, trusted online social networks, organized by medical condition, for patients and caregivers. One of the communities is the Genetic Alliance/Inspire Rare Disease & Genetic Conditions Support Community, created and managed in partnership with Genetic Alliance.

Sharon F. Terry is President and CEO of Genetic Alliance, a network of more than 10,000 organizations, of which 1,200 are disease advocacy organizations. Genetic Alliance engages individuals, families and communities in transforming health. She is the founding CEO of PXE International, a research advocacy organization for the genetic condition pseudoxanthoma elasticum (PXE). She is also co-founder of the Platform for Engaging Everyone Responsibly, which aggregates individuals for clinical studies.

Closing thought: Should researchers be looking to rare diseases to create a new model?