In October this year, along with many of my colleagues, I teamed up with patients group EURORDIS to launch the parliamentary network of advocated for rare diseases. When we discuss rare diseases in Brussels, we often talk about orphan drugs, innovation, pricing and access to treatments. However, we need to look beyond the medicines.
We should look at rare diseases as a life event, affecting human beings and their way of life. Due to the very low prevalence of rare diseases and the highly-fragmented nature of the rare diseases community, patients may often feel isolated and abandoned. However, very often they are not alone.
The diagnosis also affects their family, carers and relatives. I assume this must be a life-changing experience for everyone involved, with new ways to organise how they live. Therefore, focusing on the disease and the patient is one thing and must of course remain an absolute priority.
However, this should not be seen in isolation but rather as part of the whole. The social, professional and personal impact of the disease on the patient and their relatives must be considered as part of the equation when we tackle rare diseases.
On the legislative side, there is one step in the right direction: The Commission has recently tabled a new proposal for a directive on work-life balance for parents and carers.
The text foresees the introduction of carers’ leave, for workers caring for seriously ill or dependent relatives. They would be able to take five days o¬ff per year, compensated at sick pay level at minimum.
It is not a great deal, but it is a first step that I strongly support. This is only the start of the legislative process, and I hope the ambition of the directive will not be watered down.
Rare diseases may be rare but the number of patients living with these diseases are many - around 30 million EU citizens. Although an eye-catching figure, at national level within the broader patient community, it may appear less so. This is why I believe it’s important to tackle the challenge at European level.
This was already the spirit of the directive on cross-border healthcare, for which I was Parliament’s rapporteur and which set up the European reference networks for rare diseases.
Information was scarce on those diseases, leading to late diagnosis, fragmentation of expertise and under-representation of patients. The reference networks are designed to change this. They will share information and resources better, concentrate expertise and allow patients to seek the best available treatment, wherever it can be found.
The first reference networks got their label in March this year and I hope they all can be implemented rapidly. This is a great hope for the future, a concrete example that shows how much more effective we can be when we act collectively.
In light of this, I hope that we can help shed more light on the social impact of rare diseases and the way patients and their relatives juggle work, care and daily life.
The European Organisation for Rare Diseases recently published the first Europe-wide survey on the impact of rare diseases on daily life. It provides policymakers with an excellent overview of the challenges faced. I hope its useful recommendations can lead to concrete policy changes.