For Rare Disease Awareness Month in February and Rare Disease Day on February 28 we spoke with Jo Balfour, founding member and Managing Director of the UK-based charity Cambridge Rare Disease Network (CRDN), about the Action for Rare Disease Empowerment (ARDEnt) project.

The ARDEnt group’s goal was to focus on the unseen impact of the COVID-19 pandemic on people living with rare conditions, to protect the existing services for people living with rare conditions and to find out which lessons can be learned.

Note: The statements and opinions contained in the video and the podcast episode are solely those of the speaker.

Video Interview

Podcast Interview

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Transcript

Please tell us more about the Action for Rare Disease Empowerment (ARDEnt) project and its inception.

Here in the UK, we have a number of umbrella groups, a number of umbrella organizations supporting other rare disease charities, supporting medical professionals involved in rare diseases and supporting regional groups of patients. And one thing that became very apparent to us early on was that nobody was really getting a grip on what the impact of COVID-19 and the resulting response to that was going to have and was having on the rare disease population.

So, we decided, three groups: CRDN, the Rare Revolution Magazine and Medics for Rare Diseases, to come together and to gather a community, a population of people from across the stakeholder groups. We brought together around 30 individuals and organizations. They included other charities. They included health care professionals, those who worked in the pharma industry, were developing drugs or doing clinical trials and collecting evidence, and policy makers.

We brought this group together to map out what was this impact and which elements of it were negative that needed to be future-proofed and which were the opportunities that were emerging that we could maybe harness to make things better for the future. So, that’s really where we started. ARDEnt as a group then spent several weeks deciding what do we prioritize, which are the key areas that need some focus here. And we agreed together that we would explore impact on diagnostic delay because we knew that that was an area that was already a huge issue for families and those affected. We would explore the impact on health and social care, again an area where there were already a lot of existing inadequacies, and we would explore the impact on an already fragile research, evidence collection and drug development area.

So, we targeted these three broad areas. And interestingly, these three broad areas were also three of the four priority areas that emerged for the new UK Rare Disease Strategy later in 2021. We collected lots of detailed information through semi-structured interviews, and ultimately we brought all of this information together and we created a report called „Making the Unseen Seen“. And that was actually published back in 2021, in April.

Why did you pick the motto “Making the unseen seen”?

Because I think we all felt that rare diseases would not be given the exposure that they deserve. I think this is a very common problem. So, whilst there are between 300 and 400 million people affected by rare diseases worldwide, it’s clearly a burgeoning health problem globally. It often doesn’t get the attention it deserves because each rare disease, by the nature of its name, affects very few people.

We were really trying to harness the energy of the collective voice to bring all of these tiny, often set up by parents around a kitchen table, small groups of scattered people together to have a more powerful collective voice. I think we typically see that in crisis situations like this, the more common diseases get all of the attention. And we very quickly started to hear about the impact on cancer services, on services for patients who have dementia, but there wasn’t very much emerging about rare diseases. So, I think what we were trying to do was to make an issue that is already underreported and quite unseen more visible.

What are your plans to develop the ARDEnt project further?

That’s a very good question. We’ve had lots of interest in the ARDEnt project since we circulated the report and published that. People are really interested in this concept of bringing a collective group together of all stakeholders. It’s something that CRDN has advocated from the outset. We’ve always been really clear that our events are for everyone. We hold a scientific conference, but the patients are at the heart of every talk, every exhibition. It’s very much them that we’re there to support as a collective community. I think the idea of ARDEnt is that it’s very, it’s very open. It’s for all stakeholders, it’s cross-sector. That in itself is rather unique. And it’s definitely people’s interest.

So, what happens next? At the moment, we’re actually running a series of webinars, but I’ll talk about that shortly, and we’re inviting people through that to join us. We see the ARDEnt project as something that really is long term. At the moment, it’s nice because it isn’t owned by anyone. Nobody is in charge. The three organizations that founded ARDEnt are very much, you know, we’re not the leaders. We’re here to just keep it ticking over, but we want everybody else to join us.

We’re thinking at the moment that our focus next will be on the UK Rare Disease Framework and Strategy. If people aren’t aware of that, it’s a document that was released in April, I believe, maybe earlier, February 2021, and it follows on from the original UK framework which was from 2013. The next steps, which we’re evolving at the moment, of the action plan are so that each of the devolved nations needs to take that high-level document and decide what are they going to do about it. How are they going to actually implement the ideas, the suggestions, the recommendations that are made.

We feel that as a group we can have a strong influence, not just on how those action plans evolve, but how they’re held to account, how they’re monitored. So, we feel that that’s our next project, that we’ll be waiting for the development and the release of the new action plans. I believe that the England ones are going to be available from Rare Disease Day. We will review them together and we’ll be working out how do we make sure that we’re monitoring that they’re being undertaken successfully.

After two years, what are the lessons learned from the COVID-19 pandemic for the future?

In our ARDEnt report, which I would really encourage people to have a look at, we made some firm recommendations, but they’re based around the three themes that we explored. We saw some really positive outcomes, which seems hard to kind of get your head around at this moment in time when things feel so difficult. What we saw was a collective interest in new ideas, ideas which have been around for a while, but have never been widely implemented. For example, the use of telemedicine as a tool. Now, if you are a rare disease patient, you typically will not just see one expert, you won’t just see one doctor. You’re often visiting clinics which are specialists in various parts of your disease. These diseases are often multi-system, multi-organ. And you will be disappearing off around the country to visit your various experts throughout the year. It’s expensive, it’s exhausting, it’s complicated. And it’s not necessarily essential.

So, what we’ve discovered during the pandemic is that actually these collections of experts can come together through a telemedicine call. So, whilst some experts are saying „Actually, telemedicine doesn’t quite work in our area“: I mean, we heard from a dermatologist that really for him trying to analyze and inspect somebody’s skin through a tele-, a Zoom call type thing really wasn’t very effective. And that’s clear. But there are lots of opportunities where it could be used more widely and save the patients and the experts time, money, resources and actually get them all together. I think many of our families have found that for the very first time, they’ve actually managed to get all of their experts together in one space. So, there are opportunities such as that.

There were opportunities in the area of drug development and collection of evidence. We very clearly saw a move towards decentralized trials. So, the necessity for a patient to actually travel to a site, to a clinic and to have their tests done beginning to diminish and alternative solutions emerging. One other clear area for exploration in the future and real opportunity is the idea of clinical trials and site visits for clinical trials being more virtual, too. Decentralizing the whole process, making opportunities for people to actually track their own health at home using health wearables, using technology and sharing that data with their trial sponsors.

What events have you planned for Rare Disease Awareness Month (February) and/or Rare Disease Day (February 28)?

We’re all very much looking forward to Rare Disease Day. Throughout February, we have been running a series of webinars which are actually being hosted by the Royal Society of Medicine. They are allowing us to share the findings of the ARDEnt report. Weekly, Tuesday evenings throughout February, we’re getting the word out about the impact of COVID and opportunities for the future. We are also running a new campaign this year, so we always run an online Virtual Awareness Raising Campaign.

This year it’s with our children that we support very much in mind, and it’s a project called Rare Bear Life. We’ve been working with a charity based in America called Rare Science, and they and an army of volunteers make these beautiful bears, each one with a unique number, and it’s matched to a child with a rare disease. Our whole regional community of children here with rare diseases all have a rare bear. And using the hashtag, they’re telling their stories about life, living with a rare disease through their bears. So that’s fun. Everyone should follow the hashtag and get involved.

And finally, on Rare Disease Day, we are talking to our local genomic laboratory hub. This is a very new development within the NHS where we will be providing whole genome sequencing for diagnostics for rare diseases as part of the NHS offering. We also use Rare Disease Day as an opportunity to invite people to get involved. Our major event for this year is our global Rarefest. It’s a public-facing, very exciting festival of science, technology, health, medicine, advocacy and the arts. And we’ll be inviting people through our Rare Disease Day campaign to get involved, come along and find out more about rare.

Many thanks for your time and for the interview.