#EAPM - The diseases may be rare, but the problems are common

Health and Food Safety Commissioner Vytenis Andriukaitis said this week: "Rare diseases present a health challenge where action and collaboration at EU level has clear added value. 

“This new EU Platform on Rare Diseases Registration will address the fragmentation of rare diseases data, promote the interoperability of existing registries and will help to create new ones.”

Globally, more than 6,000 rare diseases affect in excess of300 million people, an astonishing number. 

While there is a vast amount of data on patients with specific conditions, it is as the commissioner suggested scattered across Europe in around 600 different registries. These are databases that hold information on patients with specific conditions.

As it stands, the vital data available is not collected EU-wide, and there are no shared standards to analyse the information already out there.

The Commission’s new platform will, it says, bring this data together.

EAPM is, at the same time, raising awareness of its MEGA+ initiative, which aims to make ALL important healthcare data available across the bloc.

Achieving this will enhance diagnosis and treatment outcomes. Preventative measures and the lives of Europe’s patients will improve as a result.

Specifically for Rare Disease Day, it always takes place on the last day of February, and this year marks the 12th edition since its launch in 2008 by EURORDIS.

The main objective of Rare Disease Day is to raise public awareness and decision-makers about rare diseases and their impact on patients’ lives.

 It is a fact that those suffering from a rare disease face myriad challenges as well as their illness. According to a Europe-wide survey, 80% of patients have difficulties completing basic daily tasks.

For example, it’s astonishingly difficult for individuals to manage collecting and taking medicines, getting to appointments, and accessing various social and community support services along side activities such as work, education and, of course, leisure.

Prior to all that, actually diagnosing a rare disease can often be a major problem, for obvious reasons. Indeed, sometimes there are even cases in which the children of someone who has died from a rare diseases cannot be tested to see whether they have it until they have reached a certain age - even when they may have a 50% percent chance of inheriting the condition.

There is an arguable need to encourage more people to ask about being tested for genetic cancers before it is too late. However, ethics kick in if a person is under the legal age to make his or her own choice in respect of perhaps learning they have the disease.

Then there is genetic discrimination, which is just as much a risk with a rare disease than with any other.

One fear among citizens is that as knowledge of diseases related to genes increases, it could be used by the likes of insurance companies in a discriminatory fashion.

This possible risk could also lead to people being too scared of possible consequences to take part in research programmes, or to even discuss it with their families and doctors for fear that the information may be misused.

Another issue is what we can call ‘financial discrimination’. Given that rare diseases are harder to treat - the expertise may not exist in a particular member state, for example, or a region of that country - it becomes a problem concerning access for patients to the best health care possible, or lack thereof.

Financial discrimination could be the inability to afford private healthcare insurance, or the lack of the best treatment if the country that one lives in doesn’t have the resources to pay for it.

This has a knock-on effect when it comes to cross-border health care. If a patient has to rely on another country that has a much-needed treatment, but it is more expensive than the reimbursement available in the patient’s own Member State, this may make it impossible, or at the very least extremely difficult.

And that’s not even taking into account time off work and travel costs.

Also, in the case of rare diseases, access to a clinical trial maybe difficult, assuming the patient even knows about it, and affording the high prices charged for orphan drugs is always a potential barrier.

There are certainly many issues surrounding rare diseases and EAPM and its members and associates work hard in the area - always sticking to the goal of keeping the patient at the centre of his or her own healthcare process. And, of course, the Alliance is adamant that there is no place for discrimination in healthcare, or anywhere else.

Keeping the patient at the centre is a necessary philosophy, but also necessary is that EU society needs to adapt mechanisms so as to facilitate bringing science into healthcare systems.Data for research is vital for this to happen.

Such issues will be key to EAPM’s 7th annual conference in Brussels from 8-9 April, and you can find out more here and click to register.

Included in the high-level debate at the conference will be the importance of ethics and patient consent running alongside the fact that there is also a need for citizens to have a solid trust in governance when it comes to the data-sharing spectrum, not just for rare diseases but in all areas.

Yet even as a stand-alone area, rare diseases represent a broader public health issue which requires creative initiatives to address the specific challenges caused by the rareness.

The rare disease field often acts as a model for innovative practices designed for the patients, Certainly, there is little doubt that rare diseases can and do drive innovation in medicine, with a quarter of all innovative products reaching the market being designed for a rare disease.

EAPM believes that active discussions have to be maintained between all stakeholders to ensure that scientific progresses translate into a better life for these millions of patients, and rare diseases will remain high on the Alliance’s agenda.