Rare Disease Research – moving from Study Participant to Research Partner


Blog by Isabel Jordan @seastarbatita. Introduction by Joe Babaian.

Healthcare is both personal and global, both technological and bitingly human – above all, these features are not mutually exclusive. The peers, mentors, and friends you engage with on #hcldr each week cover the entire breadth and depth of healthcare – everyone has a voice, a mission, a vision for tomorrow.

It’s both an honor and an amazing opportunity this week to have Isabel Jordan as #hcldr guest host. Isabel is a long-time participant (2014!) in the #hcldr community and is one of the founding members and the current Chair of the Rare Disease Foundation 14 years into parenting 2 children, 1 with a rare disease, has taughtisabel her many lessons – one of which is that partnering with health care providers and researchers can improve and inform both care and research.  Connecting with other parents and health care providers has made her a strong proponent of patient advocacy and family and patient-led care. Volunteering with the Rare Disease Foundation led her to social media, and the connections there created deeper connections with the patient advocacy world. She engaged with further opportunities in the #patientsincludedlargest_rdf_logo_vertical_col and #itdoesnthavetohurt communities. The connections in all these communities – #raredisease, #patientsincluded, #itdoesnthavetohurt, have shown that there is wisdom in the patient/caregiver community that, when included with the healthcare providers’ and researchers’, ensures better care for patients everywhere.

Rare Disease Day 2017 is Tue, Feb 28th. Rare Disease Day takes place on the last day of February each year. The main objective of Rare Disease Day is to raise awareness amongst rdd-logothe general public and decision-makers about rare diseases and their impact on patients’ lives. The campaign targets primarily the general public and also seeks to raise awareness amongst policy makers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases.

Please join us along with Isabel when she guest hosts #hcldr on Tuesday February 28th at 8:30pm ET (for your local time click here).

Without further ado, here is Isabel’s incredible 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 no real treatment.

All this applies to 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 or 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 pcori-brief-webfig3from 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 February 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:

Rare Disease Foundation

Patients Included


Main Blog Links:

International Rare Disease Day http://www.rarediseaseday.org/

1 in 2000  http://www.eurordis.org/about-rare-diseases

1/12 or 1/10 prevalence  https://www.rarediseasefoundation.org/research

NORD Rare Disease Facts http://cdn.rarediseases.org/wordpresscontent/wp-content/uploads/2014/11/NRD-1008-FactSheet_5.pdf

Pursuing Elusive Diagnoses for Rare Diseases http://www.medscape.com/viewarticle/840440

EURORDIS Rare Diseases Europe http://www.eurordis.org/about-rare-diseases

PCORI Patient-Centered Outcomes Research Institute http://www.pcori.org/

Strategy for Patient-Oriented Research http://www.cihr-irsc.gc.ca/e/41204.html


Additional Resources:

CORD Canadian Organization for Rare Disorders http://raredisorders.ca/

NORD National Organization for Rare Disorders https://rarediseases.org/

Global Genes https://globalgenes.org/

Rare Disease Report http://www.raredr.com/

How to read and understand a scientific paper: a guide for non-scientists http://blogs.lse.ac.uk/impactofsocialsciences/2016/05/09/how-to-read-and-understand-a-scientific-paper-a-guide-for-non-scientists/

When patients help bridge the knowledge gap in health research clinical trials https://simondenegri.com/2017/02/24/when-patients-help-bridge-the-knowledge-gap-in-health-research-clinicaltrials-whywedoresearch-proms/

How and why should we engage parents as co-researchers in health research? A scoping review of current practices http://onlinelibrary.wiley.com/doi/10.1111/hex.12490/full

Photo Credit: https://www.slideshare.net/HaleyMacLeod/rare-world-towards-technology-for-rare-diseases



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