Prioritising rare diseases

Millions of Europeans live with at least one of the 6,000 known rare diseases, but campaigners say that too little is done to make this a public health priority at the EU level, reports Martin Banks.

Photo credit: European Paliament Audiovisual

By Martin Banks

Martin Banks is a senior reporter at the Parliament Magazine

03 Mar 2020


With an estimated 32 million people in Europe living with rare diseases, and ten times that number globally, MEPs have thrown their support behind fresh efforts to help sufferers.

To this end, on 18 February, the European Parliament hosted the relaunch of a “network” designed to improve rare disease policy strategy.

One specific aim of the “Network of Parliamentary Advocates for Rare Diseases” is to establish an EU policy framework for rare diseases.


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The network comprises MEPs pushing to improve the lives of sufferers and came just ahead of Rare Disease Day, an annual event marked in over 100 countries on the last day of February.

Raising awareness was one of the objectives of the “Reframe Rare” policy event in Parliament, organised by EURORDIS-Rare Diseases Europe.

Several MEPs attended the event, as well as representatives of patient organisations, the medical professions and the world of academia and industry.

Through my personal experience, I understand how challenging it can be to get a diagnosis and access appropriate medicines and healthcare” Slovenian MEP Tanja Fajon

One of the MEPs to attend was Slovenian Socialist Tanja Fajon, who has chronic myelogenous leukemia (CML), a cancer of the white blood cells.

She recalled the difficulty she had in accessing appropriate treatment and medicine and being told her life expectancy would not exceed seven years. “That was 20 years ago. Through my personal experience, I understand how challenging it can be to get a diagnosis and access appropriate medicines and healthcare.”

Calling on the EU to “build a new policy framework that best serves those with a rare disease”, she said, “The problem in my case was that I had to wait for access to the appropriate treatment because it wasn’t available in Slovenia.”

The event was told that in the past year, 12 percent of people with a rare disease were unable to get the right treatment because they could not afford it; 22 percent could not access treatment because it was unavailable where they lived and 14 percent were unable to get treatment because the waiting list was too long.

The meeting also heard that less than five percent of rare disease sufferers had access to “centrally-approved therapy” in Europe.

Another speaker, Greek EPP MEP Stelios Kympouropoulos, was diagnosed as a child with spinal muscular atrophy (SMA), a rare disease affecting fewer than five in every 10,000 people in Europe.

“About 32 million people in Europe are affected, so we need to give this seven percent of the population the best possible treatment and equal access to it” Greek MEP Stelios Kympouropoulos

He said, “Many rare diseases are still unidentified and for the ones being identified - about 5,000-8,000 - there is usually no cure. About 32 million people in Europe are affected, so we need to give this seven percent of the population the best possible treatment and equal access to it.”

He cited the European Reference Networks (ERNs) as a “good example of EU cooperation” as they “bring together centres of excellence across Europe, and had also been a “success in supporting research and making a difference.”

But he added, “In order to make cross-border healthcare a practical solution for patients with rare diseases, there has to be a European solution applying to all Member States.”

During a session on accessing medicines and treatment, Czech GUE member Katerina Konecná said, “Some patients are desperately waiting for new treatments and they have a right to access the appropriate one as soon as it becomes available, irrespective of where they live.”

Professor Alberto Pereira, coordinator of the European Reference Network for Rare Endocrine Conditions, demanded action to “reduce inequalities” in accessing appropriate treatment, medicines and care.

Mencia De Lemus, president of SMA Europe, which campaigns to improve the quality of life of people who live with SMA, said that until new treatment became available in 2007, up to 60 percent of people born with the disease died before the age of two.

“That has all changed. The treatment is not a cure, but for those with SMA it has been like a miracle,” she said.

Daria Julkowska, coordinator of the European Joint Programme on Rare Disease, noted that there was relatively little research on the “majority” of the 6,000 known rare diseases.

She said ERNs had given “special momentum” to the research front but there was still a need for closer cooperation with industry.

Swedish EPP member David Lega, who has Arthrogryposis Multiplex Congenita (AMC), a rare, nonprogressive congenital disorder that causes multiple joint contractures, asked how policymakers like himself might improve the situation through legislation.

He said, “It is important for us to know this, so that we can ensure that what we do has no negative effects.”

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