Sunday, 26 February 2017

Rare Disease Research – moving from Study Participant to Research Partner

On February 28th I'm honoured to be hosting a special Rare Disease Day #hcldrtweetchat. Two weeks ago Joe Babiain approached me to see if I would be interested in working something up with a rare disease focus coming up towards rare disease day. To be honest I was grateful for the opportunity for a couple of reasons. Looking back on these posts, it's obvious that there's been a bit of a hiatus on writing here. This was just the push I needed. With a Rare Disease Day theme of 'Research' this seems like the perfect time to talk about how patients, caregivers, health care providers, and researchers can create an environment of partnership to create change for the rare disease community. So, thank you, Joe. Thanks for the push and thanks for the opportunity to talk about my community, and to talk about my passion for partnership in both care and research. And I'm looking forward to the conversation on Tuesday February 28th on on #hcldr at 5:30PT (8:30ET) about patient partnership in research.

NB: I'd also I'd like to thank Joe for being a great editor and @couragesings for helping me find some great resources.

(The following was originally posted on the #hcldr blog)

It’s International Rare Disease Day on February 28th and by the beginning of February I start to reflect on what it means to me. It wasn’t so long ago, that frankly it didn’t mean anything at all to me. Rare and orphan diseases didn’t have any impact on my life, or at least I didn’t think they did or ever would. If I knew that a rare disease was defined as a disease that affected less that 1 in 2000 people, I certainly wouldn’t think it would have any relevance to me. However, taken all together, that means that rare diseases in total affect 1 in 12 people – and half of them are diagnosed when they’re children. And I wouldn’t realize that one of those 1 in 12 would come to be my son. I wouldn’t realize that the average time to diagnosis for rare disease patients is over 7 years and for most of these diagnoses there is noreal treatment.

All this applies for the 7000 or so named rare diseases. Then there are those like my family – those of us still searching for a diagnosis. We’re 15 years in. Multiple specialists in, reading study after study, communicating with researchers directly, and left with more questions than answers. We have piles of archived studies, ideas of where to go, but mostly we work in partnership with our health care providers, hoping that one day, somebody’s research bears fruit and an answer is found for our son.

This is the current state of affairs in 2017 for rare diseases. How do we move forward? For me there is only one answer. We can only move forward together. There is limited funding for research. There is a limited pool of donor resources for non-profits. There is a limited pool of study participants for research studies. There are limits everywhere. What if we could all help each other overcome the limits we have? What if we could amplify each other’s efforts by being more efficient with the resources we each have. Now wouldn’t that be something? It strikes me, we go further (and faster) together, than we do apart.

There are some incredible researchers out there doing great work on rare disease. But they can’t do it alone. There are health care providers seeing patients every day, with access to a pool of patients and information. And there are patients and communities, gathering information and resources, mobilizing to do good work. So, let’s bring them together, each to amplify the other’s voices and information. Balanced together, that’s how we get to the end goal.

With small study populations, tight competition for funding, and competitive donor pools, the smart money is on research that collaborates with patients and the rare disease community to get the work done. So the question is, how is that done an authentic way? What is everyone’s role? How do patients inform research? What lessons can we learn from failures? Are there resources on how to work with patients and communities? Is research all about the cures? Or is it about living well with #chronicillness and #raredisease? Who decides? And how? With PCORI in the US and SPOR in Canada, how can researchers and patient communities leverage resources to work together for better research impact?

Join the #hcldr community of professionals, patients, clinicians, administrators, lurkers, counselors, social workers, designers, and advocates! Please join us on Tuesday, Feb 28, 2017 at 8:30pm Eastern (for your local time click here) as we discuss the following topics:
  • T1: How do we start to overcome barriers to engage the patient/caregiver community as research partner? What is the role for digital communication? 
  • T2: Is there a danger of engaging the ‘same old voices’ or in other words, how do we ensure diversity of thought? 
  • T3: “Tear down that wall!” Barriers – there are barriers on all sides to patient inclusion. How do we address them and overcome them?
  • T4: How is rare disease a model that can lead healthcare into patient inclusion in research? Example?

Resources for Further Study

Links Mentioned in Bio:

Main Blog Links:

International Rare Disease Day
Pursuing Elusive Diagnoses for Rare Diseases 

EURORDIS Rare Diseases Europe

PCORI Patient-Centered Outcomes Research Institute

Strategy for Patient-Oriented Research

Additional Resources: 

CORD Canadian Organization for Rare Disorders

NORD National Organization for Rare Disorders

Rare Disease Report

How and why should we engage parents as co-researchers in health research? A scoping review

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