The pandemic has changed all our lives. Whether that be the loss of loved ones, employment or social interactions – we have all been deeply affected. However, for some, the burden has been disproportionate and the support inadequate. The rare disease community, an often forgotten community, have been met with chaotic care due to the strain on health and social care systems, limited support access due to lockdown restrictions and substantial pressures on their existing charities and groups. These events have left many patients and families feeling isolated and helpless.
As the pandemic raged across the world in early 2020, a group of concerned advocates joined forces to take Action for Rare Disease Empowerment (ARDEnt). The aim was to highlight the unseen impact of the pandemic on people with rare disease to protect their ecosystem of support and services and envision what the new normal would look like after the pandemic. Their published report titled: ‘Making the Unseen Seen’ – emphasises the impact of the pandemic through the patient journey and how we need to ensure that management for rare disease patients is more robust in the future.
The ARDEnt Approach
Following a stakeholder discussion, the team identified three priority themes for collating evidence. These themes are three of the four priorities highlighted in the UK Rare Diseases Framework published last year, which aims to raise awareness of rare diseases, speed up diagnosis and improve patient care. These themes include:
- Priority 1: Diagnostic delay
- Priority 2: Health and social care coordination
- Priority 3: Research, drug development and access to treatment
The evidence was obtained by a review of the published literature and grey literature review (i.e., government documents) as well as interviews with key stakeholders, including patients, healthcare professionals, researchers, industry and advocacy groups.
The impact of the pandemic
The key findings discussed in the report include:
- The pandemic has exacerbated diagnostic delay: The report notes that many individuals were reluctant to seek professional care, resulting in late presentations. There was also a reduction in primary care capacity and referrals to secondary care. It is clear that the pandemic has exacerbated the diagnostic odyssey.
- The pandemic has compounded existing inadequacies in health and social care: For people living with rare diseases, 83% experienced delays or cancellations in diagnostic testing, transfusions, surgeries, scans and routine appointments. Of these individuals, 66% stated disruption negatively impacted their wellbeing, with 30% of these disruptions being reported as ‘definitely’ or ‘probably’ life-threatening. A deterioration of patient health was particularly notable in neurological diseases.
- The pandemic has exposed the fragility of rare disease drug development: The world of clinical development for rare diseases is already fragile, yet was exacerbated by safety considerations, travel restrictions, shielding and reshuffling of staff and trial sites. In some instances, there has been termination of the only study for that disease.
Recommendations by ARDEnt
The report provides several recommendations for each theme that should bring rare disease patients into the light and improve their care in the future:
- Diagnostic delay: The authors suggest that remote clinical consulting should be optimised, healthcare data should be used to support diagnostic trends and those undiagnosed should be proactively sought.
- Coordination of health and social care: There should be mental health support as part of care pathways, therapies that are essential for halting disease progression should be protected in law and funding models for support groups need urgent assessment.
- Access to treatment and productive research and drug development: They recommend the implementation of decentralised trials and remote monitoring, the use of real-world evidence within regulatory studies and virtual site visits to be encouraged.
The road ahead
I have always said you can never truly understand something until you go through it yourself. For many rare disease patients, time is precious. Time to get a diagnosis and time to spend with loved ones. As we all know, time throughout this pandemic has been turned upside down. If one thing is clear, it is that the rare disease community has been disproportionately affected by the pandemic, something which is emphasised in this report.
Despite the challenges that exist, the spirit and resilience of the rare disease community never dampens. With such adversity, opportunities have emerged for us to learn from these lessons. From the pandemic, we have seen unprecedented upscaling of specialist services, fast-tracked drug development and a new era of collaboration.
The report reinforces that now is the time for action. We cannot ignore the lives of people and families affected by rare diseases. We must look forward to a better time and hope that we don’t make the same mistakes. Most importantly, we all must play our part!
Watch ARDEnt’s webinar following the launch of the report: https://www.youtube.com/watch?v=oAFqqp80W9o
Read the report published by ARDEnt here: https://www.camraredisease.org/wp-content/uploads/2021/05/ARDEnt-Report-Making-the-Unseen-Seen-May-2021-FINAL.pdf
Image credit: By Alexander’s Images – canva