How to Simplify Genetics & Raise Awareness Around Orphan Diseases

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Dr. Gail Ouellette, President and Scientific Director of Regroupement Québécois des Maladies Orphelines (RQMO)/Quebec Coalition of Orphan Diseases and Creator of the Genetics Simply website joined me in this Fireside Chat episode for a thought-provoking discussion around the rare disease community in Canada. Among other things, we explored the barriers faced by rare disease patients, how to raise awareness around rare diseases in the medical community, and how COVID-19 has affected the needs of these patients.

Here is a preview of our conversation:

Q: If you were to pick a few key agenda items that you would want to see happening in the next one to two years, how can we move the needle forward? What small steps can we start taking to really assist patients or start to develop a more comprehensive plan?

A: I’ll tell you where we’re at in Quebec and that would apply for the whole of Canada. First of all, yes, with CORD, we’ve been collaborating since our founding and even myself before. I also got the idea of founding something in Quebec by participating in CORD meetings and meeting with people, because they were holding international meetings.

The focus was on getting some organization; we weren’t even talking about a plan or strategy at the time, but then it came. And in 2015, we had our proposal of a strategy for Quebec with 40 some solutions and propoasls; CORD also had participated in that. There were lots of discussions with stakeholders and we had a proposal too for Canada. They’re all the same, these proposals and plans, because the patients all have the same needs. The caregivers, the families with rare diseases, they all have the same needs across the world.

CORD is also very active in access to treatments. What I would say is, first of all, we do have to have a plan or strategy to get this organized. We were calling for it in Quebec and we had some success because we had a working group that wrote a report with recommendations. Now we have an advisory committee, which is not meeting because of COVID, but they were supposed to meet for three years. Now we said, “Okay, that’s too much and we can’t wait anymore. Let’s not wait for this big strategy and plan and how to organize. Let’s do the priorities that the patients asked for. People with rare diseases, their caregivers and families – what they asked for.”

The first thing, which within our survey was more than 50% of respondents and which comes up all the time in all our consultations, it comes up in our iRare Center that you mentioned, because people can call us and write to us for support and information: it’s finding doctors/physicians that understand what it is to have a rare disease. It’s also the approach for a diagnosis, to reduce delays in diagnosis, the approach for social services because they have a lot of trouble accessing social services. It’s not to tell them, “Learn the 7,000 or 8,000 rare diseases, but you have to understand what it is to have this disease. “We want you to search for our diagnosis, not just stop when you’ve done all the tests and you don’t find it.”

What that means is we need education in the medical community. Physicians and other health professionals need that education and it’s done in other countries. For diagnosis, doctors, as I said, can’t know the 7,000 diseases, but they need some resources and information. “Where do I go? Where are the experts in these?” We’re asking for the education of doctors and a network, a registry, or an intranet somewhere. We’re asking for it in Quebec, but it should be across Canada so that doctors can find who’s an expert in this disease or category of diseases. Those are easy things to establish…

For more of our discussion, you can watch the whole Fireside Chat with Dr. Gail Ouellette, or listen to the podcast version, below.

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