Rare diseases continue to be a pending challenge for society. On World Rare Disease Day, on February 28, different campaigns seek to make these diseases and the reality of their patients visible.
Rare diseases continue to increase, but they are still a long way from getting the resources they deserve, which means a whole pending issue for their patients and for 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 more than 3 million in Spain.
Also, there are more than 7,000 rare diseases, of which more than 6,000 have already been identified. almost the 50% son neurological and, among those that are not, it is common for them to present with some neurological symptom.
However, the lack of knowledge about this type of pathology translates into a delay in diagnosis. Specifically, the 20% of patients with rare diseases take ten years or more to get a proper diagnosis, as noted by the Spanish Federation of Rare Diseases (FEDER).
And in this same line, less than 5% of pathologies have approved treatment.
With the aim of raising awareness among the population and giving voice to rare diseases, several campaigns have been launched.
#UnPasoaTiempo
The group of rare diseases Alexionof AstraZenecatogether with the collaboration of the FEDER, have set themselves a challenge: add 2,102,400 minutes (four years) to investigate these diseases, the time it takes an average patient to be diagnosed.
To do this, they invite society to visit the web page where the video they have made is located and which reflects the reality faced by these patients.
The objective is to reach the mentioned minutes through the visualizations, at which time Alexion will donate a financial contribution to FEDER that will be invested in the investigation of rare diseases and in unmet needs from the patients.
The “heel test”
Since Alexion point as clave the heel prick or neonatal screening, the main diagnostic test for early detectionwhere more than 92% of the diseases detected through this test are rare pathologies.
He doctor Francesc Palau Martínez, director of the Genetic and Molecular Medicine Service of the Pediatric Institute of Rare Diseases (IPER) at Sant Joan de Déu Hospitalexplains: “Newborn screening programs are a decisive element in reducing the time it takes to obtain a diagnosis, which helps to start the most appropriate treatment, facilitates good management of the disease and, therefore, improves the quality of the people affected and their 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 that many young people have to deal with every day but which, however, does not prevent them from enjoying themselves and achieving their goals.
This is the motivating message that the campaign claims “Youth with courage” and that seeks to make visible what it is like to live with some of the different rare diseases that exist.
Promoted by the European Union program Erasmus+ and formed by the Isabel Gemio Foundationthe Spanish Federation of Neuromuscular Diseases (ASEM), Let’s unite the Italian Federation of Rare Diseases, Parent Project APS y CMT-Francehighlights the need to promote social politics that allow a 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 has no why stop your dreams”.
‘The rare ones’
To promote knowledge about these diseases, Pfizerwith the endorsement of FEDER, has launched for the second time “Las Raras: the mark of a few that we should all know”materialized in a 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 disseminate 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 in it and are an active part. They are diseases with such a low prevalence that, under normal conditions, they are not known, therefore, it is very important to promote their visibility,” says the Dr. Mónica López, internist and coordinator of the Minority Diseases Unit of the Ramón y Cajal Hospital.
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