This article is the product of a POLITICO Working Group presented by Sanofi and UCB.
Of all the obstacles standing in the way of optimal care for rare disease patients and their families, doctors are an unlikely one.
And yet, there they stand at the start of the diagnostic odyssey — the journey that rare disease patients and their families undertake in trying to receive an accurate diagnosis.
“The doctor wants to solve the problem and doesn’t want to ask for help,” Hungarian surgeon András Kulja admitted to POLITICO, having witnessed this himself. “But this is not about your ego, but about the life of that patient,” he added.
Kulja, who is now a member of the European Parliament with the center-right European People’s Party, shared his view during a POLITICO working group on rare diseases to thrash out how Europe can better help those with such conditions. But once he let the cat out of the bag, it was quickly pounced upon by those experiencing this barrier — patients.
“Ego is definitely everywhere in France, I know it happens,” Virginie Bros-Facer, CEO of rare disease patient group EURORDIS, said. “It’s part of the barriers, or at least, a part of the delays.”
For rare disease patients and their families, attaining a diagnosis is the first step in a long and difficult journey to secure the best care — and this phase alone might take anything from months to decades. The complexity of symptoms, limited access to specialists or diagnostic tools and fragmented health care systems force rare disease patients to go from doctor to doctor. And in bouncing from one specialist to the next, they also have to overcome some doctors’ unwillingness to admit defeat and refer patients on to other specialists.
One way to overcome this is to improve the education of health care professionals — as proposed by the European Economic and Social Committee in a recent paper on tackling rare diseases in Europe. For Kulja, however, educating doctors on rare diseases should focus not only on specialist clinical knowledge but also on how to be “morally more sensitive.”
But inadequate medical training is just one of the many obstacles preventing rare disease patients and their families from receiving a correct diagnosis and appropriate treatment. There are many others throughout the whole lifecycle of rare diseases, from research and innovation to treatment and care.
A mixed bag of tools
To address these challenges, Europe and its member countries have introduced numerous policies over the last two-and-a-half decades.
For example, the orphan drugs regulation came into effect in 1999 to spur the development of therapies for rare diseases, and a law to allow treatment in any European Union country was passed. The European Reference Networks launched in 2017 to bring together specialists to tackle rare diseases, and more recently, the EU launched an initiative — the so-called JARDIN project — to better integrate these specialist teams into national health care systems.
There is also new legislation, such as the revision of the pharmaceutical legislation and the European Health Data Space, that should further boost research and development in this field. While nationally, countries each have their own rare disease plans.
But with so many existing policies, Europe now needs a common approach, said Enrique Terol García, coordinating adviser at the permanent representation of Spain to the European Union. “What we need is to put the pieces together … We don’t need to reinvent the wheel,” he said.
Bros-Facer agreed. For all these pieces to work in a cohesive, organized and coordinated manner and to have common goals and indicators, an EU plan is needed to work as a “glue” to bring all pieces together, she said.
Countries’ health systems need to change their approach and mindset to allow international collaboration, Birutė Tumienė, professor at Vilnius University and member of European Reference Network for hereditary metabolic disorders, said. It’s impossible to combat rare diseases without international collaboration, “our health systems are just too autonomous” she added.
Vytenis Andriukaitis, a former European health commissioner who is now a European parliamentarian, is all for introducing an EU rare disease plan that would pull together both national and European initiatives, and include social care such as psychosocial support for families.
There are between 6,000 and 8,000 known rare diseases and while one rare disease may affect only a few patients, others may affect as many as 245,000 in Europe. Developing European infrastructure and approaches to tackling such diseases would accelerate diagnosis and treatment for all patients, he said.
According to Tumienė, an EU plan should establish minimal requirements on equity and sharing of best practices. It should also future-proof existing tools, Anne-Sophie Lapointe, head of rare diseases at the French health ministry, said. When talking about an EU plan, “we have to think about the future,” Lapointe said, adding that she is a “bit afraid” of the JARDIN project ending by 2027.
Building on national plans
The good news is: Europe has a wealth of national plans to build a European plan, if it so wishes.
However, national rare disease plans vary wildly across the bloc. For example, nine national plans have now expired, Tumienė said, while two member countries — Sweden and Malta — don’t have one. (Sweden has recently commissioned a rare disease strategy.)
“All your national paths are a mess,“ Andriukaitis said. “In many countries and for a large number of rare diseases, both clinical guidelines and care pathways are missing, despite [having] plans,” he added.
Therefore, the first step should be “to reinvigorate the national strategies, to update them, because they are clearly not up to date,“ Daria Julkowska, coordinator at the European Joint Programme on Rare Diseases.
For Terol from Spain, the European Commission should take responsibility for the “mess” with national plans.
“At some stage … even [if] they were not perfect, all member states were developing action plans,” he said. But now, this work has stalled because the European Commission is no longer helping, he said. The Commission knows it’s important, “but it’s an issue of prioritization or an issue of resources,” Terol added.
“It really does not have to be that financially burdensome,” to develop an EU plan, argued Bros-Facer, adding she hoped knowing this would encourage the Commission to take up the task.
But despite the chorus for an EU plan, it’s not currently on the new European health commissioner’s to-do list; Olivér Várhelyi’s mission letter omits such as task.
POLITICO reached out to the Commission for a comment but did not receive an answer by the time of publication.
This article is the product of a POLITICO Working Group presented by Sanofi and UCB and was produced with full editorial independence by POLITICO reporters and editors. Learn more about editorial content presented by outside advertisers.
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