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European Rare Diseases Day 2018: One-year anniversary of the European Reference Networks for rare diseases
By Vytenis Andriukaitis, European Commissioner for Health and Food Safety
On 1 March 2017, the European Reference Networks (ERNs) - virtual networks bringing together healthcare providers across Europe to tackle complex or rare medical conditions, kicked off. 24 thematic ERNs, are now up and running with over 900 highly specialised healthcare units from 25 EU countries and Norway working together on a wide range of issues, from bone disorders to haematological diseases, from paediatric cancer to immunodeficiency. One year on from the day he launched the initiative in the University hospital in Leuven, Belgium, Vytenis Andriukaitis, European Commissioner for Health and Food Safety, tells us how ERNs are already helping patients, and outlines his hopes for the years ahead.
Elisa from Alessandria in Italy suffers from osteogenesis imperfecta. This rare genetic disease causes brittle bones and affects only one in 15 000 people. Elisa, aged 30, was diagnosed with the disease as a small child. "I couldn't play like other children" she recalled, "because if I fell, I would break something". A year ago, when ERNs were just about to begin their work, we asked Elisa what she was expecting from them. "More research, for the people, for the children who are being diagnosed, to try and improve their quality of life" she said.
Rare diseases are those that affect no more than 5in 10,000 people. Taken together, between 5,000 and 8,000 rare diseases affect the daily lives of around 30 million people in the EU - many of whom are children. Rare and complex diseases can cause chronic health problems and many of them are life-threatening. Examples of rare diseases include:
v Cystic Fibrosis, a hereditary disease that damages the lungs, digestive system and other organs, affects around one in every 9000 Europeans
v Hepatoblastoma is a very rare paediatric liver tumour mainly affecting very young children (0-3 years). EU incidence is only one in 5 million
v Fibrodysplasia ossificans progressiva, affects only 3500 people worldwide, causes bone to be formed in muscles, tendons, ligaments and other connective tissue
As a medical doctor, I have too often been witness to tragic stories from patients with rare or complex diseases. Having been diagnosed young, Elisa is luckier than most. Many patients are left in the dark for years, unable to find an accurate diagnosis let alone appropriate treatment. It is also a frustrating situation for doctors, who want the best possible results for their patients.
Such is the nature of rare and complex diseases, that specialist knowledge is scarce and fragmented, and therefore often unavailable in the patient’s region or country. But this same feature makes work on rare diseases an area of enormous EU-added value: using the EU's great pool of knowledge and expertise, by connecting our assets through ERNs can bring concrete benefits to many thousands of patients.
One year on from their launch, these ERNs are treating more than 50 patients with rare diseases. Patients like Adam, from Colchester (*). The 12 year old suffers from neurological and muscular problems, but his doctors cannot pinpoint the symptoms to a specific disease. He has seen countless specialists who are treating him as best as they can, but they need to know what exactly is wrong in Adam's body in order to find optimal treatment. Adam's doctors are now consulting with medical staff from as many as five EU-countries through the ERNs and are already a step further in diagnosing his illness.
Under this initiative, the first contact for a patient with a rare disease or undiagnosed symptoms is his or her own healthcare provider, who if the patient consents, can seek the advice of a member of an ERN. To review a patient’s diagnosis and treatment, medical specialists across different disciplines and from all over the EU consult one another, exchange information and share knowledge, often by convening cross-border advisory boards – made possible by a special IT platform developed by the Commission, to discuss a patient's file. This way, it is the medical knowledge that travels, and there is no need for patients to undertake exhausting trips between regions and countries, as was often the case in the past.
Adam is not the only patient benefitting from the cross-border expertise offered by ERNs. Patients from many other EU countries – including other young children - who suffer from very rare neurological disorders, cancers, blood and other disorders, are having their cases reviewed, and some have already received a proper diagnoses and been given advice on treatment.
With Adam and dozens of other rare diseases patients who now have renewed hope, the ERNs are off to a good start. In the coming year I would expect the ERNs to help hundreds if not thousands of patients, and in the longer term, I hope to see the ERN model extended to other diseases. As we reach a critical mass of patients being analysed, diagnosed and treated, ERNs, will boost research through large clinical studies and contribute to the sustainability of national healthcare systems. I am confident that ERNs will help and improve quality of life for many patients in the EU suffering from rare and/or complex diseases and conditions – children and adults alike.