NORD Rare Diseases Breakthrough Summit

Entering A New Era – but what will this new era look like?

It was the NORD congress last week and I wanted to give some thoughts on a key theme that emerged across many sessions. As is seemingly the norm with virtual congress, I was juggling the day job and so this will not be a review of all the sessions. I was grateful that I was able to attend without the transatlantic travel and still have the opportunity watch back several breakout sessions that were missed. There are clearly some benefits to virtual congress!

As with others conferences this year there was plenty to be hopeful about – investment in research in more rare diseases; further progress in gene and therapies where monogenic rare diseases are a logical initial target; significant development in the use of telehealth and so reducing isolation and burden; all the continued passion and commitment within the rare disease community in driving forward change.

Through all this positivity there was a thread that is certainly and significantly holding back effective progress – DISPARITY. COVID-19 loomed large (more so than the European Congress of Rare Disease) and the pandemic has shone a bright light on disparity in the US in terms of healthcare inequalities and its disproportionate impact on certain populations and indeed rare diseases (as being investigated in other countries e.g. the work of ARDent).

A good example of where everything continually tracked back to disparity was a positive session on the role of telehealth to better treat patients living with rare disease. The pandemic has certainly accelerated its use and healthcare professionals described how this had transformed patient consultations with benefits for everyone. Physicians appreciated being able to see a child in their own home where they are more relaxed. Parents appreciated not having to drive five hours to attend a consultation and thereby reducing isolation. However, this won’t benefit the whole community unless, as Professor Susan Berry concluded, access to good broadband is seen as ‘a right not a privilege’.

How do we overcome these multiple disparities impacting on better outcomes in rare disease? Durhane Wong–Reider led an excellent session on creating sustainable healthcare systems supporting rare disease across the Globe. There are factors, transcending regional borders, that threaten future access to innovation and increasing inequality of access including the removal of legislation that incentivises investment in rare disease research.

If we face similar challenges, perhaps we should fight with one voice? One perspective presented during this session was how the treatment of HIV has been ‘Globalised’ and what lessons can be learned from this. Looking also at how the world has been mobilised in protesting against the disregard of climate change and inequalities based on skin colour also demonstrates that strength in numbers can drive change. As a note, it was great to see another congress in quick succession (the other was the Rare Fair) tackle head on health inequalities based on gender, race and ethnicity with a break-out session well chaired by Eric Dube.

So, returning to the congress theme. Is there an opportunity to harness all the unwavering commitment to better outcomes in rare disease that resides in communities, countries and regions? Are we entering a new era of a Global voice towards collective positive change in rare disease.