Orphanet Journal of Rare Diseases is proud to present this piece, a runner-up entry in Findacure and Medics4RareDiseases’ “Student Voice” contest, which explores some of the changes which need to be made in healthcare, in order to improve the experiences for patients with rare diseases.
**Please note: due to space constraints, this “Student Voice” blog appears in condensed form (the full-length version which was submitted for the contest, can be found here).
At the beginning of the COVID-19 pandemic, it was announced that genetics laboratories around the UK were going to be repurposed to support more COVID-19 research. This is now simple to understand. COVID-19 was and is, after all, the more-pressing research problem.
But what does this mean for all of the patients with rare, genetic conditions who were relying on the same laboratories for a diagnosis? Because of COVID-19, 6 in 10 patients have not been able to access testing for their condition. This has a direct effect on patient empowerment as they are left feeling poorly informed, often compounded by misdiagnoses and poor coordination of care.
As more funding, time, and resources have been inevitably shunted towards COVID-19 research, what challenges have presented in rare disease (RD) research?
Suspension of clinical trials and delay in research
One creative solution to the problem has been the rise of ‘virtual trials’ where trial data is collected using technology.
As a result of the COVID-19 pandemic, enrolment in clinical trials across the world has decreased by 65% and the number of clinical trials classified as ‘suspended’ on the US National Institute of Health’s registry has skyrocketed. Clinical trials require regular in-person visits to hospitals and professionally guided intervention of therapies. This is impossible in a pandemic where government guidelines prevent social interaction and foot traffic in hospitals.
For RD patients who rely on clinical trials for access to treatment, this is a devastating prospect. 24% of participants in the EURODIS Rare Barometer COVID-19 survey said that they have had to discontinue one of their medicines or treatments since the pandemic began. For Amber Freed, a mother who fought tooth and nail for her child to receive an experimental drug treatment, it has been disheartening to hear that the trial has been suspended.
One creative solution to the problem has been the rise of ‘virtual trials’ where trial data is collected using technology. Trial design is reshaped to allow for therapies to be administered at home with training provided to caregivers. There are multiple benefits to this trial design. There is the potential to save money and overcome geographical barriers – which can be useful when studying a small population of RD patients.
Funding and fundraising
It should not be the responsibility of the patients and families to fundraise for their own treatment
I am grateful to have been given the opportunity to speak to the European board representative of the International WAGR Syndrome Association (IWSA) – a non-profit organisation dedicated to raising awareness of, stimulating research for, and supporting families affected by WAGR syndrome. WAGR syndrome is a rare condition which increases patient risk of developing a Wilms tumour. Patients may also have other cardinal features such Aniridia (absence of the iris), Genitourinary problems and a Range of developmental abnormalities.
In 2019, the overall income of IWSA was $70,000 while in 2020, the projected income of IWSA has been 25% less. This will directly impact the research into WAGR syndrome that the IWSA finances. Although virtual fundraising still remains active and running, there are worries that the reach of the fundraising campaign will not be as large as previous years.
However, the funding problem for RD research lies on a deeper scale than this. It should not be the responsibility of the patients and families to fundraise for their own treatment. In a fair world, all RD funding would be covered by the public sector. For many years, groups like the European Organisation for Rare Diseases (EURORDIS) and Rare Diseases International (RDI) have been lobbying for RD to be considered an imperative public health priority. Although RDs may individually affect less than 1 in 2000 people, they collectively affect 1 in 17 people – no small number.
In September 2019, the UN states accepted a milestone declaration to include rare diseases as part of the universal healthcare coverage (UHC). Additionally, the EU has invested more than €1.4 billion to support more than 200 collaborative research projects in the RD field. These breakthroughs show us that awareness of RD is increasing, and how important it is to keep urging governments to allocate more funds to RD research.
What have we learned from the current situation to carry into the future?
The pandemic has helped to emphasize the importance of raising awareness for RDs. There is a risk of COVID-19 discriminating against vulnerable RD patients from receiving equitable holistic care. Part of that care involves enhancing RD research because so much is still left to be discovered in this diverse field. With the application of creative strategies such as virtual trials alongside lobbying for more funds to be allocated by the public sector towards RDs, we can hope to improve the delivery of RD research in the future.