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Visualizing rare diseases and their patients, quite a challenge

Rare diseases remain an outstanding challenge for society. On World Rare Disease Day, February 28, different campaigns aim to make these diseases and the reality of their patients visible.

Rare diseases continue to increase, but they are still far from getting the resources they deserve, which means a lot of unfinished business for patients and society.

And it is that, according to data from the Spanish Society of Neurology (SEN)it is estimated that these pathologies affect more than 400 million of people all over the world already more than 3 million in Spain.

Likewise, they exist more than 7,000 rare diseases, of which more than 6,000 have already been identified. Almost the 50% they are neurological and, among those who are not, it is common for them to run with some neurological symptom.

However, the lack of knowledge about this type of pathology results in a delay in diagnosis. Specifically, the 20% of patients with rare diseases it takes ten years or more to get a proper diagnosis, as pointed out by the Spanish Federation of Rare Diseases (FEDER).

And in the same vein, less than 5% of the pathologies have approved treatment.

With the aim of raising awareness among the population and giving a voice to rare diseases, several campaigns have been launched.


The group of rare diseases Alexionof AstraZenecatogether with the collaboration of the FEDER, they have set themselves a challenge: add up 2,102,400 minutes (four years) in the research of these diseases, the time it takes an average patient to be diagnosed.

For this reason, they invite society to visit the website where there is a video that they have made and which reflects the reality that these patients face.

The objective is to reach the mentioned minutes through the visualizations, at which point Alexion will make a financial contribution to FEDER that will be invested in the research of rare diseases and in unmet needs of the patients.

The “heel test”

From Alexion they point out how key the heel test or neonatal screening, the main diagnostic test for early detectionwhere more than 92% of the diseases detected by this test are rare pathologies.

The doctor Francesc Palau Martínez, director of the Genetic and Molecular Medicine Service of the Pediatric Institute of Rare Diseases (IPER) of the Hospital Sant Joan de Déuexplains: “Baby screening programs are a decisive element in reducing the time to obtain a diagnosis, which helps in the implementation of the most appropriate treatment, facilitates the proper management of the disease and improves, therefore, the quality of the people affected and the families”.

The initiative advocates the need to achieve a early diagnosis for these patients that allows them to have the quality of life they deserve.

“Youth with courage”

Another campaign refers to the struggle with which many young people have to fight every day but which, however, does not prevent them from enjoying themselves and achieving their goals.

This is the motivating message claimed by the campaign “Youth with courage” and which seeks to make visible what it is like to live with some of the different rare diseases that exist.

Driven by the program of the European Union Erasmus+ and formed by Isabel Gemio Foundationthe Spanish Federation of Neuromuscular Diseases (ASEM), Uniamo Federazione Italiana Malattie Rare, Parent Project APS i CMT-Francehighlights the need to boost social policies that allow one greater accessibility and social inclusionl of young people with rare diseases.

Thus, 28 videos have been disseminated through social networks that tell the story of young people from different countries diagnosed with rare diseases and muscular dystrophies, who have “faced life” and have shown that “a rare disease there’s no reason to stop your dreams.”

‘The rare ones’

To promote knowledge about these diseases, Pfizerwith the endorsement of FEDER, it has launched for the second time “Les Rares: the brand of the few that we all need to know”materialized in one concept store.

In this way, T-shirts were distributed so that attendees could customize them to their liking and turn them into a symbol of support for patients with rare diseases.

“The idea is to spread knowledge about this type of disease. Most of these pathologies have a genetic basis, and therefore not only the patients, but also their families, feel very involved and are an active part. These are diseases with such a low prevalence that, under normal conditions, they are not known, therefore it is very important to promote their visibility”, points out the Dr. Mónica López, internist and coordinator of the Minority Diseases Unit at the Ramón y Cajal Hospital.

Rare diseases make patients visible
Image provided by Pfizer
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