Rare Disease Day 2021 - Reflections on a year like no other

Early this year I was asked by Dr. Christopher McMaster, Scientific Director of the Canadian Institutes for Health Research Institute of Genetics (CIHR-IG) if I would consider writing a guest editorial for the CIHR-IG February newsletter. I sit on the Institute's Advisory Board, I both live with a rare disease and am the parent of a youth with rare disease. Dr. McMaster wanted to give up his usual space in the newsletter to somebody from the community on what is regularly considered 'rare disease month'. I was honoured to pen my thoughts on rare disease, disability, the impacts of COVID, and working with the research community. You can see the original post here, along with some other great content and information on the great work that the CIHR-IG and its members are doing. If you'd like to subscribe to their newsletter click here.

There’s a special poignancy to Rare Disease Day this year. This time last year, we were just beginning to see that there was a virus of concern spreading around the world, but it was only in March, after Rare Disease Day, that it became clear that we were looking at a global pandemic.

This past year has been especially difficult on the rare disease community. Many of us have health or lifestyle risks because of our rare diseases and disabilities that make us particularly vulnerable to COVID-19. Because of this, we are particularly stringent with our isolation protocols. It is a difficult and lonely time for many in our community. With a lack of security in knowing how much risk we have, we default to maximum safety protocols for ourselves and our families.

 

The nature of rare disease means that many of us have always lived with uncertainty. The uncertainty of pandemic times are not new to us. We don’t know how we’ll react to new therapies, medications, and to other conditions such as novel viruses. We lack the decision aids that let us take calculated risks, and in their absence, we can only increase our vigilance. It’s exhausting – not just because of the mental gymnastics involved in trying to make good decisions, but also in trying to explain to others just why we need to be so careful in our risk management.

 

As I read the very COVID-19-focused news, so many articles describe the mental-health toll that living with uncertainty has taken on the general population, and to "hang in there" because, with vaccines being deployed, we can get back to normal. Meanwhile, for myself and my community, this uncertainty is our commonplace. Our normal, will always be uncertainty. It has been my life as a parent for the past 18 years. Where is our vaccine against uncertainty?

 

I, like many in our community, look to research as a potential means of improving our lives. What we lack in information about our own diseases, our own bodies, could be alleviated through research into rare disease – but not research in silos; research that is co-led by patient partners. We know the challenges that we face and where focus could have the most potential at improving our lives. Research needs to have priorities and goals aligned with the lived experience expertise of the communities it serves so that scarce research funds are effectively used for maximum effect.

 

The rare disease community looks to the research community to partner with us so that we can have the best outcomes and gain new insight on how to live well with our rare diseases and disabilities. Perhaps, now that we’re almost a year into a pandemic, those not impacted by rare disease themselves have gained an understanding of just how exhausting living with health uncertainty can be. Perhaps this too will fuel more research for the rare disease community.