Rare But Not Alone
October 23, 2025
Dr Gail Ouellette and the RQMO are connecting and supporting patients with rare diseases, and keeping governments accountable for their promises.
When it comes to appreciating the challenges faced by Canadians with rare diseases, few people have the experience of Dr. Gail Ouellette. She started as a researcher in genetic epidemiology before moving into the field of genetic counselling, which gave her a new perspective and commitment to the world of rare disease. In 2010, she co-founded Regroupement québécois des maladies orphelines (RQMO), which brought together several rare disease patient organizations in Quebec. In addition to its role in advocacy and awareness, RQMO – in partnership with CanPKU+ – has now expanded its information and support service, the iRARE Centres, to the rest of Canada.7 Dr. Ouellette spoke with us about her journey with RQMO and the work that still needs to be done to provide better and more equitable care for people living with rare diseases.
Tell us about how you came to found RQMO.
I was working with various patient organizations as a genetics consultant, and I saw that some of them were advocating for their condition to the government, but these efforts were occurring in isolation. In 2009, I suggested regrouping the rare disease patient organizations in Quebec so we could be a more united and effective voice. RQMO started with four Quebec associations, and now we have more than 40 members, with Canada-wide representation.
One major priority was advocating for a coordinated provincial action plan for rare diseases. France was the first country with an action plan back in 2004, and we thought we should have something similar in Quebec.
We also found there were huge gaps in the information available to patients and caregivers. So we created our information and support centre for rare diseases, which later became the iRARE Centre.
What have been some of RQMO’s biggest accomplishments?
Our biggest success was to get a rare disease policy and action plan in Quebec, which is the first provincial plan in Canada. It has three key elements: first, to educate doctors and other healthcare professionals about rare diseases. The second is to reduce the delays in diagnosis – there will soon be a government service to help health professionals and people navigate our health system, and we will establish expert committees on nineteen different categories of rare diseases. The third element is the creation of a Quebec rare disease research network.8
On the information and education side, we’ve now provided individual aid to about 6,000 people in Quebec, and we’ve recently extended our iRARE Centres to cover all of Canada. We have a helpline for specific questions, and we also create resource sheets that give an overview of each disease in lay language, plus links to local, national and international organizations and resources (e.g., clinical experts, research projects, clinical trials, registries, orphan drugs on the market or in development).
What needs to happen next with the rare disease action plan?
Now that the plan exists, the next step is implementation – our goal is to follow up and ensure the government invests the necessary money and implements the plan. The action plan included the necessity of partnerships with patient organizations, so we want to ensure that the RQMO and its member organizations are consulted and involved in its implementation.
Access to orphan drugs was not included in the initial action plan, but we're continuing to advocate for that. Whenever a drug is under evaluation by INESSS, we encourage and support patients to complete their questionnaires. And INESSS just announced an advisory committee that will include patients, healthcare professionals, and patient organizations, so we hope to be part of that!
I've also been encouraging people in other provinces to get organized so they can advocate more effectively. Our iRARE Centre giving individual aid, our annual Education Day, and Rare Disease Day activities contributed to the increase in awareness about rare diseases and orphan drugs in Quebec. So I think we’ve shown that there’s strength in numbers and organization. I hope that our example can inspire other provinces. I would love to see each province have its action plan adapted to their reality.
“When people called our helpline, sometimes they were crying, and told me that nobody understands their disease. And they were so relieved to finally find out that they weren’t alone.”
Dr. Gail Ouellette, Founder and Past President, RQMO
Looking back on your time leading RQMO, what stands out to you?
I’m proud of what we were able to achieve on a policy level, but really what has kept me going is being able to make a real difference for individual patients and their families. When people called our helpline, sometimes they were crying, and they told me that nobody understands their disease or what living with a rare disease is like. And they were so relieved to find out that they weren’t alone, and they could get the support and information they needed. Most patients told us that their health professionals didn’t seem aware and educated about rare diseases, so I am proud that the first element we asked for in the Quebec rare disease action plan is raising awareness and educating the medical community.
And even though I’ve retired from the presidency, I still consult with the current leadership and I’m active as the genetic counsellor for the iRARE Centres. I hope a path like this can inspire others. But the most important thing is that the patients and caregivers have a voice.