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Joan Paulin (Mississauga, Ontario) is a dedicated PH community advocate and loving mother to a 24-year-old PAH patient. As a recently appointed Ambassador for PHA Canada, Joan has committed herself to acting as a lifeline for newly diagnosed patients and hopes to remain a strong advocate for making necessary treatments available for those who need them. And so we sent Joan on a mission to the 2017 CORD Conference in Toronto to represent the PH community: here is her personal report.
Disclaimer: The views and opinions expressed in this article are those of the author and do not necessarily reflect the official policy or position of PHA Canada.

Did you know that one in 12 Canadians suffer from a rare disorder? That comes to nearly three million Canadians (plus their families) in total!

I got to learn about this, and more, during the 2017 Canadian Organization for Rare Disorders (CORDConference, which was held in Toronto. It was called “Delivering Innovation: A Moon Shot for Rare Disorders – and Beyond”.

The event was billed as an opportunity for the larger rare disease community to better understand what healthcare professionals see going forward in the areas of research, advocacy, and access to treatment. There were speakers from every corner of the community: doctors, researchers, patients, representatives from both the Ontario and federal governments, and more. Ultimately, everyone was able to mobilize around a common vision: to develop a “best-fit” model for Canada’s rare disease network.

I have to admit, some of the stuff sounded kind of “pie-in-the-sky,” but I guess that’s why it was labelled as a “Moon Shot.”

Here’s a recap of what I learned. Please note this is a bit of an over-simplification, but for the sake of context I wanted to explain it as simply as possible.  

The current healthcare system (from research to access to treatment), is built on what is called a “Common Disease” model: large clinical trials are done on huge patient groups using diagnostic tools that will facilitate early diagnosis and fast treatment initiation. Those treatments are then made readily available and can be prescribed by medical practitioners at a relatively low cost (because they are needed by a much larger population than that of a rare disease like PH).

In the case of rare diseases, this process is very, very different. Our clinical trials involve very few patients (because the diseases are rare!). Most rare diseases take years to correctly diagnose (4.8 years on average!), after which the patients often require the care of multiple medical specialists, using treatments that can be very expensive (especially for some of the ultra-rare diseases). As a result, we can find it harder to get access to potentially life-saving treatments (as we all know!).

So how was some of this addressed during the conference?

On February 29, 2016 (Rare Disease Day), the Ontario Ministry of Health and Long-Term Care (OMHLTC) established a Rare Disease Working Group with the goal of identifying how they could better manage the treatment of rare diseases, including strengthening diagnosis and patient care. The Working Group’s Co-Chair, Dr. Ronald Cohn, reported on the committee’s progress at the Conference (very exciting!).

Most notably, Dr. Cohn announced that the group had already submitted a report to the Ministry in September, and that he felt very optimistic that the recommendations would be acted upon.

Among the many items he shared with us, these stood out for me:

  1. Patient voices and stories are important and will continue to be so, especially in the rare disease community where no two stories are the same.
  2. While rare disease patients need standardized care, they also need flexibility because one drug may not work the same for everyone (special shout-out to dual or combination therapy!).
  3. We need to move away from the “Common Disease” model: real world experience needs to be included in the determination of which drugs work for which patients (another shout-out to our PH advocacy heroes out there who are tirelessly fighting for PH doctors to be the decision makers when it comes to determining which drugs should be prescribed to patients).
  4. The future of medicine will no longer be one-size-fits-all. Rather, with progress being made in the areas of immunotherapy and stem cell therapy, healthcare is moving towards being delivered on an individualized basis. In fact, the rare disease community has the unique opportunity to lead in the development of individualized care for the rest of the healthcare community.
  5. There are fewer gaps in research data and knowledge than they originally thought. But these gaps need to be better addressed through a more consultative approach. In fact, Marshall Summer from the USA's National Organization for Rare Disorders (NORD) spoke on the first day about the need for effective patient registry platforms.

These thoughts and concerns echoed a lot during the panels throughout the weekend, with many mentions of a need for faster diagnosis, more individualized care, and a healthcare system that helps remove the existing “silos” in government approval, access, and funding.

While these discussions were all related to rare diseases, I could not help but feel as if they could have just as easily been for an event like A Moon Shot for Changing How Healthcare Is Provided in Canada. Maybe that’s the key; the whole healthcare system needs a 21st-century overhaul. What I do know, is that because of pressure being exerted by many rare disease communities (including PHA Canada, our patients/advocates, and CORD), momentum is building for rare disease in Canada.

To conclude, I would like to extend a huge thank you to our PH Community. Hearing speakers talking about the lack of patient advocates and specialists for many rare diseases, I realized how much I take our own community for granted. It is crucial that we carry on advocating for standardized but flexible, individual care, physician-based treatment decisions, and for better access to new therapies. The PH community is ahead of the curve; let’s keep it going!

Joan Paulin

Joan Paulin