I have had in the past couple years, the opportunity to learn more about the current world of rare disease research in Canada. A window for which I am entirely thankful for.
One such opportunity came last year in the form of attending a session on how precision medicine has impacted so many areas of the science. I'll admit I'm still wrapping my brain around the vast complexity of it all.
A short primer on the subject for you today would be that precision medicine tailors treatment decisions entirely thinking of you and your diagnosis specifically. One example of that would be blood transfusions; you don't give a patient just anyone's blood. You are given transfusions according to your specific blood type.
Patient involvement in the rare disease research process has become a rather interesting side hobby of mine. I am a highly engaged person within the research world. This is just the trajectory that my life has taken and I love every facet of it. That being said, not everyone is me.
In bringing information about this session to my larger support community online, I could literally feel the eyes of the readers glazing over. While many people are engaged in the science of health, we have not brought everyone else along for the ride. I am under no assumption that everyone wants to catch up either. The reaction was essentially, how does this affect my life? Tell me in 30 seconds or less. I absolutely get it! When I started out after my son's diagnosis, my ability to stay organized was awesome. My brain was a well organized filing cabinet. Nowadays, some things I've stored away in my mind feel more like a sticky note that could be threatened by a puff of wind.
This really speaks though to two problems that we have in Canada.
a) While we speak to the diagnostic odyssey of patients and families, we have little by way of looking at all the firey hoops they leap through. These processes of care don't mimic your average medical show having everything solved in under and hour with commercial breaks. Given many patients and families exist under the threat of life-limiting timelines, there is a sort of entrepreneurial spirit that emerges in people with no prior experiences in science. Not entrepreneurial spirit in the monetary sense, but in seeking help to save the ones they love. It has not been common practice to track, or learn from these steps that many patients and families have taken. As time passes, we are losing valuable legacy data because of this lack of networking and dissemination. You can't pass on knowledge if you don't know that it's a necessary step.
That has begun to change in the US. NORD (National Organization on Rare Disorders), has created a patient portal for which one can begin to collect this legacy data with a particular interest in smaller patient populations. An extremely worthwhile effort in my mind. However, limited if you don't know that its something that exists, you're not capturing everybody. What if we could help families learn about all the potential directions they could take their medical journey? To bridge some of the knowledge gaps on their options?
b) We need a compassionate lens on how we can create optimal patient partnerships in research that functions with an understanding of patient choice. With over 7000 rare diseases, odds are that not everyone will be all in, attending medical conferences and standing by research posters. We need to honor the choices of whatever patients and families wish to bring to the table. Many just want to live their lives and that is perfectly ok. Patients and families deserve best starts in regards to resources and knowledge in order to pursue their goals no matter what they are. We need to ask patients and families, what they are going through and most importantly what they wish to be asked from others and how far they wish to get involved... always keeping the door open should they change their minds. If we are to call this rare disease experience an odyssey, we need to remember that even in the most mystical of fables few of these journeys taken were accomplished alone. There is a new prospect of hope for someone when somewhere when they see that choice still remains within their reach.
My life experiences are only one of a myriad of potential outcome variables. I know what I have overcome in regards to barriers in care and information access. I have a keen interest in understanding what others have gone through and seeing what sorts of commonalities emerge. To learn what are the most common needs from the lens of not validated measures, but compassionate moments of just listening because we've been missing out on so much.
As a culture of new partnerships emerges within rare disease and with undiagnosed families, how that begins to tailor together will show itself over time. I have been workshopping what I think is a pretty great idea myself. But now is the time to really offer opportunities to start to understand one another between stakeholder and clinician. Everyone deserves to participate from an informed space. What that begins to look like as the research landscape changes, I'm excited to see.
