I don’t need to start this blog by explaining what COVID-19 is. From the global stock market to your local hairdresser (and consequently, your hair), every aspect of society has felt the effect of this virus. But more than perhaps anyone else, the most vulnerable among us — including those with rare diseases — have felt the greatest repercussions.
The World Health Organization (WHO) declared COVID-19 a pandemic in March 2020, meaning that this month will see the first Rare Disease Day in this new COVID era. A world where people are more acutely aware of their own health and wellbeing than ever before.
However, people with rare diseases have been all too aware of their own health for far longer than this past year. Rare diseases are predominantly chronic in nature, most often arising from genetic causes, and many are severe, if not life-threatening. There are over 7,000 rare diseases affecting around 350 million people worldwide. Many go untreated, with just 5% of rare diseases having treatments, which still are not always accessible to those who need them.
The burden of COVID on rare disease patients
The impact of COVID-19 on people with rare diseases can’t be underestimated. Not only does their condition makes them more vulnerable, but the exceptional burden hospitals are facing makes access to essential care even more difficult. Many are shielding and unable to leave their homes even for their weekly shop, or the daily walk that many of us are using to keep ourselves sane.
A Europe-wide survey by Rare Barometer (a European Organisation for Rare Diseases initiative) collected the opinions, experiences and needs of people with rare diseases during the pandemic. The nearly 7,000 responses highlight the many challenges faced by those affected, as well as their families and caregivers.
- More than four in five (83%) said their care was disrupted. This included the postponement or cancellation of:
- Diagnostic tests
- Rehabilitation therapies such as physiotherapy
- Medical therapies such as chemotherapy
- Medical appointments
- Psychiatric help
- Six in ten found the interruptions to care detrimental to health, and three in ten felt that these interruptions were probably (21%) or definitely (9%) life-threatening
- Two-thirds of respondents have struggled with mental health since the beginning of the pandemic
What needs to be done?
Currently, and rightly, the priority is to manage the pandemic. However, it’s also important not to lose sight of the health and social care needs of people with rare diseases and their carers. Research on rare diseases is delayed due to pandemic prioritisation and work and social distancing restrictions. Once we emerge from lockdown, and begin to return to normal life, we mustn’t forget the long-lasting impact that the pandemic will have had on our most vulnerable communities.
Rare disease treatment difficulties were prevalent before the pandemic and this will continue unless we take action. At a recent Reuters virtual event, Unlocking innovation and access for rare disease patients in Europe, Members of European Parliament, pharma CEOs and patient advocacy leaders expressed the importance and urgency of finding treatments for rare diseases and ensuring equitable access to those treatments. With the goal of driving treatment innovation and patient access, key areas of opportunity identified were:
- Early diagnosis via newborn screening and genetic testing
- Facilitation of patients’ movement across borders
- Sharing of data between countries
- Increased collaboration between government, pharma and patients
Despite the difficulties created by the current outbreak, there is hope. Pandemic initiatives are demonstrating that a shared incentive and collaborative working can reap great rewards for patients, and by managing the consequences of the pandemic we are learning from and investing in science and healthcare. These insights and advances could mean that we will soon be realising ambitions to achieve earlier diagnosis, provide co-ordinated care, early interventions and produce innovative new treatments that will change the lives of people affected by rare diseases.
Rare Disease Day is on Sunday 28th February 2021. For more information, visit rarediseaseday.org
 World Health Organization. WHO Director-General’s opening remarks at the media briefing on COVID-19 – 11 March 2020. https://www.who.int/director-general/speeches/detail/who-directorgeneral-s-opening-remarks-at-the-media-briefing-on-covid-19—11-march-2020 [Last accessed 23 February 2021]
 Eurordis (Rare Diseases Europe). “Rare Diseases : understanding this Public Health Priority .” 2005. Available from: https://www.eurordis.org/IMG/pdf/princeps_document-EN.pdf [Last accessed 23 February 2021]
 Global Genes. Rare Disease: Facts and Statistics. 2017. Available from: https://globalgenes.org/rare-diseases-facts-statistics/ [Last accessed 23 February 2021]
 Rare Disease Day. Frequently Asked Questions https://rarediseases.org/wp-content/uploads/2019/01/RDD-FAQ-2019.pdf [Last accessed 23 February 2021]
 Rare Barometer. How has COVID-19 impacted people with rare diseases? https://download2.eurordis.org/rbv/covid19survey/covid_infographics_final.pdf [Last accessed 23 February 2021]
 Genomics Education Programme. The impact of Covid-19 on rare disease communities. https://www.genomicseducation.hee.nhs.uk/blog/the-impact-of-covid-19-on-rare-disease-communities/ [Last accessed 23 February 2021]