Taking action now for patients with rare diseases

At this very moment, across Europe there are 30 million people living with a rare disease. Each patient is currently facing their own unique challenge, trying to learn to live with and in other cases beat a disease that most people have probably never even heard off. Often, it is difficult to even learn that you have such a disease because no specific test exists.

Thankfully there has been great progress made thanks to scientific advances and efforts at various levels.  Yet we are still facing a situation where too many people living with a rare disease face unmet needs and difficulties in accessing a diagnosis, treatments and care, often leaving them marginalised in society.

If we take Myalgic Encephalomielitis /Chronic Fatigue Syndrome, better known as ME or CFS, as one such case, it is easier to understand the difficulties that such patients live with. Living with ME can be very difficult and sometimes almost impossible. Extreme tiredness and other physical symptoms can make carrying out everyday activities extremely difficult and is also likely to affect a patient’s mental health.

Unfortunately, due to the gaps in research, this disease is poorly understood by many doctors, and that is why many patients are incorrectly diagnosed and poorly treated. At the Committee on Petitions, we received several petitions raising concerns over the absence of treatment and the current underfunding of biomedical research on ME within the EU.

For the past year I have been stressing with the European Commission the need for additional funding and prioritise calls for proposals focusing on biomedical research into ME that aim to develop a diagnostic test and effective treatments to cure or alleviate the effects of the disease. I have also asked about possible EU’s actions regarding the cooperation and the exchange of best practices among the Member States to screening methods, diagnoses and treatments.

This is a situation which will be very familiar to other patients who suffer from other rare diseases. Rare 2030 Action is a campaign by EURORDIS which is a non-governmental patient-driven alliance of patient organisations representing 970 rare disease organisations in 74 countries. It seeks to ensure that no rare disease patients are left behind by 2030.

This European Action Plan focuses on 3 key goals to improve the lives of those suffering from such diseases. The Action Plan seeks to stop people losing their lives too young from rare diseases which unfortunately happens very frequently. Only 6% of these diseases have a treatment and it may take up to 5 years to be diagnosed. The aim is to have 1000 new therapies by 2030 and a diagnosis within 6 months.

The second aim looks to improve the quality of life of people living with a rare disease by ensuring that the EU has rare disease strategies which are up to date and in line with the latest advancements in science and technology. The final goal is to ensure that Europe is a global leader in rare disease innovation by uniting all European efforts together and setting ambitious objectives for the next ten years.

As a society, we can only empathise with what suffering rare disease patients go through every day. Not knowing how long you have been ill for before diagnosis and knowing that the probability is that there is no treatment or cure for your disease. Patients with ME and other rare diseases need us to be on their side. It is only by committing to such initiatives such as the Rare 2030 Action that we can in practice offer our full support and solidarity to these patients.