Elisa, from Alessandria in Italy, suffers from osteogenesis imperfecta. This rare genetic disease causes brittle bones and a¬ffects 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 the European reference networks (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 that are being diagnosed, to try and improve their quality of life”, she said.
Too often as a medical doctor I have 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 seek the best possible results for their patients.
The nature of rare and complex diseases is such that specialist knowledge is scarce and fragmented and therefore may be unavailable in the patient’s region or country. However, this same feature makes work on rare diseases an area of enormous EU-added value: leveraging the EU’s vast pool of knowledge and expertise by connecting our assets through ERNs can bring concrete benefits to many thousands of patients.
On 1 March 2017, the ERNs - virtual networks bringing together healthcare providers across Europe to tackle complex or rare medical conditions, were established. There are now 24 thematic
ERNs up and running, with over 900 highly specialised healthcare units from 25 EU countries and Norway working together on a wide range of issues, ranging from bone disorders to haematological diseases, from paediatric cancers to immunodeficiency. One year on from their launch, ERNs are now treating more than 50 patients.
Under this initiative, the first contact for a patient with a rare disease or undiagnosed symptoms is his or her own healthcare provider. Assuming the patient consents, they can seek the advice of an ERN.
To review a patient’s diagnosis and treatment, medical specialists across different disciplines consult, exchange information and share knowledge, often by convening cross-border advisory boards to discuss a patient’s file. This way it is the medical knowledge that travels, meaning there is no need for patients to undertake exhausting trips between regions and countries as was often the case in the past.
The Commission has developed a dedicated IT platform for ERN consultations to run smoothly. These became operational in November 2017. Since then, dozens of patients have started to have their medical files discussed within and across a number of ERNs.
For example, a young Austrian girl with a rare neurological condition and a French woman with a rare blood disease both are seeking a concrete diagnosis after years of not knowing.
Meanwhile patients from France, Germany and the United Kingdom with rare forms of cancers are being advised on the best possible treatment.
These are just a few examples of how patients from across the EU are already benefitting from the ERNs’ advice on diagnosis and treatment.
We are off to a good start, and in the coming year I would expect the ERNs to benefit hundreds, if not thousands, of patients.
In the longer term, I hope to see the ERN model extended to other diseases. I am positive that as we reach a critical mass of patients being analysed, diagnosed and treated, the ERNs will generate more and more research on rare diseases, improving the quality of life of children - as Elisa wishes for - and adults alike.