Rare Diseases: Why the EU must ensure that rare diseases aren’t side-lined during the fight to overcome COVID-19

Maria da Graça Carvalho, Frédérique Ries, David Lega & Tomislav Sokol warn that the Coronavirus crisis has enhanced the vulnerability of people living with a rare disease.
Adobe Stock

By Maria da Graça Carvalho, Frédérique Ries, David Lega & Tomislav Sokol

Maria da Graça Carvalho (PT, EPP), Frédérique Ries (BE, RE), David Lega (SE, EPP), and Tomislav Sokol (HR, EPP) are MEPs advocating for rare disease patients

24 Feb 2021

Disease in a pandemic

With most health resources currently being channelled into the fight against COVID-19, we must ensure that rare diseases are not overlooked, writes Maria da Graça Carvalho (PT, EPP).

Rare diseases and Primary Immunodeficiency (PID) in particular are a challenge to health systems and policymakers. Their diversity alone - there are over 250 identified PID disorders - makes it harder to develop effective treatment plans and engage laboratories in the research and development of adequate pharmaceutical products. These difficulties increase the severity of health emergencies, such as the one we are experiencing, since most resources are being channelled into addressing the COVID-19 pandemic, while trying to maintain adequate levels of response to other common illnesses affecting the general population. It is hard to estimate the full impact this crisis has had on patients with rare diseases. Lack of adequate treatment for many comes to mind, but also delays in diagnosis that could prevent unnecessary suffering. We must ensure that policymakers, researchers and laboratories do not overlook rare diseases. Public funding for rare diseases R&I was a priority on Horizon 2020, with over €1.4bn invested in over 200 collaborative research projects in this field. The launch of the European Joint Programme of Rare Diseases, as well as the International Rare Diseases Research Consortium were other examples of initiatives that need to be continued and further nurtured.

Investigating against rare diseases

The Coronavirus pandemic has led to many people with rare diseases having their treatment interrupted. We must prioritise caring for our most vulnerable, argues Frédérique Ries (BE, RE).

The 30 million Europeans living with a rare disease are at risk of being forgotten. The results of the EURORDIS Rare Barometer survey on COVID-19 are telling: 9 in 10 respondents have seen their treatment interrupted due to the health crisis, with 3 in 10 reporting this would probably or definitely be life-threatening. Authorities need to recognise people with rare diseases as a high-priority high-risk population in need of targeted policies in the monitoring of and response to the COVID-19 pandemic - including possible priority vaccination. Bringing health to all and caring for the most vulnerable among us is a duty and also an opportunity. The COVID-19 Clinical Management Support System launched by the Commission to fight the pandemic is based on the experience of the rare diseases’ European Reference Networks. The now famous messenger RNA technology at the heart of several vaccines against COVID-19 has been used to treat rare genetic disorders for years. Investing against rare diseases benefits us all. Rare 2030, a two-year pilot project I sponsored to design, with patients and practitioners, the best policy recommendations for people living with a rare disease will conclude at the European Parliament on 23 February. Policymakers should pay attention: we might be inventing the innovative, tailored and collaborative health systems of tomorrow.

Prioritising human dignity

The Coronavirus health crisis has enhanced the vulnerability of the 300 million people living with a rare disease. Human dignity must come first and foremost, writes David Lega (SE, EPP).

There is no doubt that the most vulnerable in our society have been adversely affected by the Coronavirus pandemic. All over the world and, I’m sorry to say, even in Europe, we have seen cases where people needed extra help to stay alive and to live their lives - but did not receive it. In some European countries, people with disabilities were excluded from care when caregivers were forced to prioritise at the peak of the pandemic last spring. That is nothing but unacceptable. I live with a rare disease myself, and it has been heart-breaking to see others suffer and even lose their lives - not due to their disability. It is difficult not to think: “It could have been me.” The adverse effects of the pandemic on people’s health and the economy cannot be allowed to further enhance the vulnerability of the 300 million living with a rare disease worldwide. Human dignity is - and must remain - indivisible and inviolable. I strive to be a voice for those struggling the most to be heard. People with rare diseases must be ensured not only dignity, but also freedom to choose the lives they want to live.

Beefing up protection

People living with a rare disease are particularly vulnerable to COVID-19, so let’s increase precautionary measures and invest in equipment to provide a safer environment, says Tomislav Sokol (HR, EPP).

People living with a rare disease often have a higher risk of complications when another serious disease is added. The COVID-19 infection is particularly dangerous for people with a rare metabolic disorder, a weakened immune system or a weak respiratory system. The risk is even higher in older people. Often family carers of patients with rare diseases have been forgotten in the quickly implemented protective measures against COVID-19 and no protective material for relatives was distributed. Often residential homes and workshops of disabled people do not fall under the regulation of residential care facilities; they are simply forgotten when protective equipment is provided. Moreover, people with mental disabilities often struggle to follow the hygiene regulations. Infected staff are often forced to care for infected patients, thereby compounding the aggressiveness of the infection. It is crucially important to follow the guidelines regarding social isolation and personal protection measures, but problems arise when these measures conflict with receiving necessary treatments. This can only be solved by increasing precautionary measures for medical staff and investing in infrastructure and equipment, so that everyone can receive their treatments on time and in a safe environment.