Rare diseases are not so rare

With rare diseases affecting some 30 million people in the EU, state welfare should be present in every Member State, providing the appropriate support to these individuals, argues Loucas Fourlas.
credit: Adobe Stock 

By Loucas Fourlas

Loucas Fourlas (CY, EPP) is co-chair of Parliament’s MEPs against Cancer Interest Group

02 Mar 2020


Some diseases are so rare that we only see them in 1 in 100,000 people. Specifically, there are about 6,000-8,000 different diseases characterised by low frequency and high heterogeneity. This leads to wrong and delayed diagnoses.

Rare diseases, including rare cancers, not only affect patients but also their families, carers and the wider community.

In the 27 EU Member States, rare diseases affect six to eight percent of the population, i.e. over 30 million people. It seems that rare is not so rare after all.


RELATED CONTENT


The majority of rare diseases are of genetic origin and include congenital abnormalities and hereditary diseases.

Rare diseases are a major public health issue because they are chronic and serious, characterised by high heterogeneity and complexity.

They require multidisciplinary, costly and specialised therapies to address them, requiring collaboration between specialists of various medical and paramedical specialties.

“Rare diseases, including rare cancers, not only affect patients but also their families, carers and the wider community”

Often, rare diseases lead to serious complications with various forms and types of disability, rendering sufferers disabled among the most productive stages of their lives.

Due to this rarity, there is a difficulty in obtaining expertise and as a result, there are very few experts in small countries such as my home country Cyprus. As a result, we often cannot achieve early diagnosis.

Moreover, scientific research is still lacklustre in this area, as manufacturers do not see a profit from low use of medicines and medical devices.

They either do not invest and produce medicines that are not suitable for treatment, or they invest and do the small amount of sales make the medicines too expensive. Therefore, they make it extremely difficult for patients to have access to these medicines.

Many health systems either hesitate to support the holistic management of rare diseases - which include innovative treatments and high-cost pharmaceuticals - or manage them incidentally rather than holistically, with no expertise and coordination in patient relief, support or rehabilitation services.

One of our most powerful tools in trying to understand our world, to coexist in a group as a social entity and to feel happy and integrated as a person, is to accept the following simple thing: diversity is an integral part of life.

We need to learn to accept the different, to respect, to listen and to understand, always taking into account that each of us is unique.

Also important is empathy: the attempt to understand the other’s point of view and see the world from their perspective. This is the objective: a multidisciplinary, patient-centred approach, through experiential exploration and creative dialogue.

“Due to the rarity, there is a difficulty in obtaining expertise and as a result, there are very few experts in small countries”

In the wider family environment of Europe’s population, there is always one person who needs the support of the state and society to meet their specific needs and, at the same time, to be an integral member of the wider community.

The need for information, for timely and accurate diagnosis, for expertise, but also for comprehensive problem solving by multidisciplinary teams, in collaboration with all relevant stakeholders and professionals, is the key issue to be addressed.

Of crucial importance, for example, is prenatal screening. In this context, it is also important to promote the implementation of the European Strategy on the rights of people in the field of health services, ensuring quality of life.

The establishment, as well as the strengthening, of existing centres, which deal with the care, treatment, education and recreation of people with rare genetic diseases, is an urgent need.

State welfare should be present in every Member State, providing the appropriate support to these individuals, as well as their families.

The highest standards should also be applied. Family, and other people close to these individuals, do their best to support them but without the support of the state, it is difficult to provide the highest standards.

We also need to ensure equal access to health services for all citizens, as well as respect for fundamental human rights.

As an MEP, I work with my colleagues to maximise the scientific, economic and social impact of EU investment in research and innovation.

This seeks to attract additional investment from industry and Member States, to deepen the relationship between science and society and to maximise the benefits of their interaction to ensure the commitment and participation of citizens and their organisations at all stages and levels.

The high cost of innovative medicines does not result from the costs of production or distribution, however.

So, there is a need for self-restraint by pharmaceutical companies, because although they are private companies, they also have a social purpose. We are the Europe of welfare and we must show it in practice.

Share this page