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Caught Between Rare Disease and COVID-19

2020 was a year of disruption, fear, and grief, affecting individuals, families, and societies worldwide. Covid-19 was one of the major causes, the ensuing economic crisis another. Too many people were infected, too many hospitalized, too many died. Everywhere public health systems, economies, and people’s wellbeing and livelihoods were deeply – and often tragically – hurt.

As always in disasters of such magnitude, fragile people, the elderly, and those with underlying medical conditions or lack of resources are especially at risk. In particular people with rare diseases (RD) are increasingly prioritized in health care policy circles, both in the EU and elsewhere. But they are not just at risk because of their diseases’ inherent nature, but also for other reasons. Priority given to Covid-19 victims may interrupt their regular treatment schedule. They may also be too scared of visiting hospitals flooded by infected people.

In November 2020, Eurordis, the organization representing RD patients in the EU and affiliated countries, reported the results of a survey held among 6945 RD patients on the effects of the pandemic on their situation. The respondents together represented 36 countries and 1250 disease types.[1]

The survey shows that Covid-19 caused severe disruptions to care in 83% of situations. 7 out of 10 medical appointments were canceled. Surgeries and transplants were canceled or postponed in 6 out of 10 cases. For infusions and chemotherapies, psychiatry sessions, physiotherapy, and diagnostic testing, the survey reports similar figures. 34% of respondents were told not to come to the hospital if it was not for COVID-19. 25% reported that the hospital unit they usually went to was temporarily closed. 47% said that they had been too scared to go to the hospital. Two out of three respondents reported suffering from depression. They had the feeling they were not able to overcome their problems since the beginning of the pandemic. However, there were also testimonies from patients and caregivers that mentioned additional support and help from health care professionals. Respondents mentioned family and personal friends as vital sources of support (64%), alongside e-health facilities (90%).

The point is not to argue that people with rare diseases were impacted worse than patients with more common diseases. Nevertheless, RD patients’ situations may well have been more poignant and uncertain because of their difficult and often chronic situation and their need for highly-specialized, high-frequency, and non-routine care.

The Eurordis’ survey report almost coincided with the official approval of the first vaccines in the USA and Europe. Joy and sighs of relief all around (apart from anti-vaxxers and complot theorists). For the rare disease community that signals new urgent questions like: Should you get vaccinated or avoid it given your relatively unknown rare medical condition? For the moment patient organizations and medical specialists’ key messages to be: ‘We don’t know’ and ‘Consult your doctor.’ But will doctors know? They may not know either unless there is already circumstantial evidence from sources other than the clinical testing of the vaccines that points in a clear direction. Consider the small incident involving the famous Dr. Fauci[2], who said in a newscast in early December that people treated for Guillain-Barré syndrome (GBS) should avoid taken the vaccines as these may cause a recurrence of symptoms. That triggered an open letter from thirteen leading experts who point out that in the vaccines concerned no instances of a relation between the vaccine and GBS has been observed. Moreover, the final Centre for Disease Control (CDC) report on the vaccine before approval contained no such evidence or warning about this. Furthermore, the experts pointed out that many other reports suggest that there is probably no excess risk for neurological complications if one takes the vaccine.[3] But time will tell.

There is an ironic Catch-22 logic in all this, concerning the ideal of evidence-based medical care. On the one hand, to develop medicines for rare diseases is a costly and challenging process, and once there is a promising drug on the horizon, companies (or other investigators) may not be able to test it in a double-blind clinical trial. And if approved, the price charged by the pharmaceutical company will often be considered prohibitive by health insurance organizations. On the other hand, when massive, classical double clinical trials are used to test vaccines against epidemics that will often not allow reliable and solid conclusions for RD patients. However, the vaccine will be available at a low cost for such patients. Yet, if you do indeed consult your doctor, please don’t forget to ask whether taken the vaccine might affect your participation in drug trials related to the disease you do have.

A social pharmaceutical innovation perspective like SPIN should help to advance patients’ health and safety. Avoiding and handling the catch-22 logics should be integral to that. For both structural participatory involvement of patients and doctors in innovation recommends itself.


[1] See Eurordis (2020). How has Covid-19 impacted people with rare diseases. [2] See Dan Hurley, ‘No Excess Risk for Neurologic Events Observed to Date from COVID-19 Vaccines’ Neurology Today, volume 21(3) 15 January 2021. [3] In response Fauci admitted that his advice had been premature and that he had adjusted his position once the CDC opinion had been made public. See: Dan Hurley op. cit.


Written by: Rob Hagendijk

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