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An impact study on the rare disease community: a call to action

Jo Balfour, one of the founding members and current Operations Manager at Cambridge Rare Disease Network (CRDN), has collaborated with Medics4RareDiseases and Rare Revolution Magazine to bring together a cross sector group of experts and advocates newly named ARDEnt (Action for Rare Disease Empowerment) to produce a report called “Future Proofing Rare Disease Care, Research, and Treatment.” The report aims to highlight the risks, gaps and opportunities presented by COVID-19 for the rare disease community.

FLG: Please can you tell me a little about the mission of CRDN and the work that you do?

Jo: Ultimately, we want to see a world where diagnosis, treatment and care for those living with rare conditions is exemplary. We want patients to be able to live independent and fulfilled lives, wherever possible. Unfortunately, there is still a very long way to go to achieve this vision. Despite leaps forward in genetic sequencing and diagnostic tools, diagnosis still takes an average of over four years. Once patients are diagnosed with rare diseases, the care pathways are usually unclear and 95% of patients still do not have a dedicated treatment. Many patients and their families struggle to know where to look for help or expert information. The term “rare” unfortunately means lacking in information, knowledge and professionals that are able to provide support. CRDN acts as a bridge to help patient groups to gather support and connect with other stakeholders (such as pharmaceutical and biotechnology companies) to ensure the patient voice is firmly embedded into the generation of solutions to the various problems they face from diagnosis to care and treatment.

FLG: It is clear that people with rare diseases are already facing difficulties in accessing the right healthcare services. How has COVID-19 affected the rare disease community?

Jo: We believe that the COVID-19 pandemic and the global response to it has disproportionately affected the rare disease community. For example, families caring for loved ones with rare conditions have been left feeling more vulnerable and isolated as the support network that is usually available, such as educational healthcare plans (EHCPs) and routine healthcare services, are temporarily suspended. Having to navigate the unexpected changes caused by the pandemic as well as shielding due to health vulnerabilities and home educating children who would ordinarily benefit from significant support in school,  has put greater pressure on families. We are uncovering that research into rare diseases, clinical trials and drugs awaiting regulatory approval have been deprioritised, postponed and in some cases cancelled. Genomic services that would ordinarily have been available to families awaiting a diagnosis have been put on hold and resources diverted to COVID-19 projects.

FLG: What led your team to produce your upcoming report?

Jo: The report is a direct response to the struggles that the community are facing during this pandemic. It aims to discover what is broken and what has stopped working in an already fragile ecosystem. We want to be able to provide an overview of the impact whilst recommending solutions to address the damage caused, not only for patient groups, but also for other stakeholders, such as biotech and pharmaceutical companies, that are actively working towards a treatment for patients. We are working collaboratively through ARDEnt with representatives from other charities, with healthcare professionals, representatives from the pharmaceutical industry and regulatory bodies to uncover the bigger picture showing the long-term impact of COVID-19 on the rare disease community. This cross-sector collaboration enables us to share experiences and knowledge and develop creative solutions for the problems faced by the rare disease community now and into the future.

FLG: What do you hope to achieve with the report?

Jo: After consultation with cross-sector stakeholders in the rare disease field we have identified 3 priority areas to focus our data collection on which tie in with the UK Rare Disease Strategy which is due for review and republishing in 2020 (but is currently on hold). We aim to develop this report in order to influence the development of this new strategy to ensure the new opportunities emerging are included:

  • Delayed diagnosis
  • Coordination of care
  • Drug development and access to treatment

Reassuringly, the response to the pandemic has brought about some opportunities for better working practices which will work in the favour of rare disease patients. For some time, the emergence of digital communication and tele-health has given hope to those living with rare diseases of accessibility to their health care professionals and reduced travel to appointments. Patient groups have challenged the traditional drug development timeline and methods which don’t work in the favour of rare disease patients who are widely spread and are running out of time with progressive diseases. This pandemic has led to an almost overnight digital health revolution and a rethinking of how we can develop drugs when there is a time imperative. Could this be replicated for rare diseases in the future? It is crucial these lessons are highlighted and adopted. A precedent has been set that we can use to the benefit of rare diseases.

FLG: Could you tell me more about the U.K. Rare Disease Strategy 2020?

Jo: The first strategy was published in 2013, a national commitment to improve services and research for the rare disease community. The four devolved governments developed their own implementation plans from the policy to move things forward for the rare disease community. A new strategy was due to be published this year but is temporarily stalled because of the pandemic. We therefore want to take this opportunity to influence and improve the strategy and ensure it reflects the current situation. The new strategy needs to address the fact that the system was fragile prior to COVID-19 and has been further damaged. It should prioritise and focus on achievable goals to ensure it has the desired measurable impact.

FLG: What are the next steps for the report?

Jo: We are in the process of undertaking an extensive literature review, collating data from a range of major surveys and studies, conducting interviews with key players, and identifying case studies. The report is expected to be published in December 2020. It is important, however, that this report is not seen in isolation so we will continue to monitor the situation for patients as the situation evolves and plan to be publish follow-up reports after six and 12 months.

FLG: How can people who are interested get involved in the report?

Jo:  We’re keen to discover how the different stakeholders have adapted and generated creative solutions in response to the pandemic. We are particularly interested in hearing from researchers and companies whose work in rare diseases has been impacted. Have your research studies, clinical trials or drug development projects been postponed or cancelled? Have you been able to make creative adaptations, are you adopting new methods to enable virtual clinical trials, or have you other ideas which could translate into more effective, efficient outcomes which would allow for a continuation of services in a future crisis? You can contact me at to discuss becoming involved or to arrange an interview as part of this project.

From speaking with Jo, it is clear that collaboration is at the heart of CRDN and this upcoming report. Productive conservations from multiple stakeholders are needed to generate innovative and tangible solutions. They are the ones who are influenced by and influencing the progress made in the rare disease community. Therefore, it is important that their voices are amplified. It takes a team of passionate individuals to change the status quo and I urge you to contribute in any way that you can!

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covid-19 / Rare Diseases / Report