In linguistics, describing a word as a false friend implies that despite similarity in spelling or pronunciation, it actually has distinct – sometimes even contradictory – meanings in different languages. Describing rare diseases as ‘rare’ creates a similarly false association, one which implies they have a limited impact and scarcely occur. Drawing such a parallel does not reflect the reality for the approximately 30 million European citizens who have received a rare disease diagnosis. For them, a rare disease is anything but rare. Instead, it is an often long and terrifying crossing into largely unchartered waters that are characterised by a lack of information, specialists’ know-how and effective treatment.
Navigating the often lengthy diagnosis process is already an ordeal, but it is what comes next that can be especially debilitating, particularly when patients find that there are limited options in regard to therapies. The European Organisation for Rare Diseases (EURODIS) joins together patient groups to bring their voice to the European level, drawing attention to the 6-8% of the European population who fall into the category of rare disease patients. Yet, while creating a community for those who are directly impacted by an illness and bringing their perspective forward at the EU level is empowering, it needs support from wider society to truly improve the day-to-day life for patients.
Likewise, the research and recognition brought forward by the International Rare Diseases Research Consortium (IRDiRC), European Union Committee of Experts on Rare Diseases (EUCERD) or the database of rare diseases and orphan drugs ORHPHANET has made important strides toward achieving a better status quo for European rare disease patients. However, academia and researchers, patients, industry experts, the medical community and policymakers cannot continue to work in silos with only occasional cross-sector discussion and exchange. Such a method of attempting to achieve what is essentially a shared goal, emphasises the societal perception that rare diseases exist on the outskirts of public health and are ‘not my problem’.
The reality is that rare diseases are every European citizen’s problem. A single rare disease can affect as many as 245,000 people, slowly and progressively changing each of their lives as well as the lives of those around them. To truly bring the problems faced by these patients to the figurative home, more collaborative multi-stakeholder work must be undertaken. No single group has all of the answers, but each has their area of expertise or unique perspective that could be used to make strides forward in care. In fact, it is already clear that some of the very problems that lead to delays in diagnosis and treatment – relatively common symptoms across diseases and genetic triggers for as many as 80% of the 7,000 known rare diseases – also carry potential for transforming what a rare disease diagnosis means…provided that communication and data exchange between groups is enhanced. For instance, while each rare disease may have unique characteristics and specific make-up, many have similar baseline genetic composition, which can help to narrow the scope of diagnosis and develop treatment faster. As research in the field expands, diagnosis and treatment will also become more accurate.
In the meantime and alongside an emphasis on rare disease research and development of innovative diagnostic tools, multi-stakeholder initiatives are needed. Based on this, the Commission Expert Group on Rare Diseases, which will bring together experts from academia, scientific societies, patient representatives, industry representatives and individual experts from the field of public health, seems to be a step in this direction. It is now up to the members, of which EDMA is one, to ensure that the step is not the end of the journey, but rather a conscious and deliberate joint endeavour to increase public understanding of rare diseases and clarify misconceptions.
It is high time for European society across all levels to understand that though unusual in their nature, rare diseases are not as few and far between as some may be misled to believe based on their name alone.
– Magda Kalata, EDMA, Public Affairs Officer