Actions and campaigns from different health organizations with the aim of raising awareness about rare diseases, making visible and focusing on the essential needs of patients to improve their quality of life and that of their families or caregivers. February 28, World Day
Rare diseases are a challenge for more than 3 million patients, families and caregivers in Spain.
Facing the diagnosis, as well as access to treatments and the routines of daily life, leads to commemorating World Rare Disease Day every February 28 to highlight and claim greater social awareness of these pathologies.
Diagnosis and research, two challenges on the table
According to the World Health Organization, it is estimated that there are more than 300 million people living with some type of rare disease.
Detection and investigation are the main challenges faced by these patients.
The diagnosis arrives for 50% of patients after four years of waiting, and for 20% after ten years.
according to data from the Study ‘ENSerious, quality of life’ of the Spanish Federation of Rare Diseases.
This delay negatively influences access to treatment. In the case of patients who need therapeutic interventions as soon as possible, this delay means that in 31% cases of disease worsen.
Another of the claims made by patients focuses on the need to promote research and accessibility to treatments.
The 47% of people with rare or infrequent diseases have no treatment or, if you have it, it is not the right one.
In addition, 66% of patients indicate that their disease prevents them from carrying out daily activities that allow them to be autonomous, to a great extent or quite a bit, according to FEDER.
More than 40% are not satisfied with their situation regarding leisure and free time activities and, in general, with the quality of life that their disease allows them to have.
collects the study ‘Social and Health Needs of people with Rare Diseases in Spain’ (Study ENSerio, quality of life’) of FEDER.
‘The Rares’
Within the framework of this World Day, the pharmaceutical company Pzifer and FEDER have joined forces to launch the ‘Las Raras’ brand.
With it, they invite society to put themselves in the shoes of people who live with this type of rare pathology.
This line has a collection of t-shirts and tote bags with the brand logo.
For each order, the buyer will receive their purchase at home along with a card where they can learn relevant data about rare diseases.
An example of relevant data: There are more than 6,000 types of rare diseases and only 5% have an approved treatment.
Stars against intolerance and inequality
Rare diseases have little visibility, a fact that leads patients to experience lack of tolerance and inequality.
More than 30% of people with rare diseases have experienced discrimination in their education due to their disease.
points out the ‘Study ENserio’ of 2017 by FEDER.
The difficulties that these people face not only affect those who suffer from it, but everyone around them.
Their families and caregivers suffer an economic impact due to expenses and reduced working hours, according to the aforementioned study.
Another FEDER project on this World Rare Disease Day FEDER is in alliance with Alexion Pharma Spain.
Together they have launched a virtual challenge to make visible people who live with this type of disease: #IlluminatedbyRareDiseases.
The challenge invites society to help build a constellation of virtual stars of the FEDER symbol: a four-leaf clover.
Once the challenge is complete, Alexion agrees to donate 18,000 euros to FEDER to carry out these three star projects to improve the needs, education, awareness, equity and research of rare diseases.
“There are millions of people in Spain who live an extraordinary life every day: a life with a rare disease. Those affected are the hidden stars and deserve recognition beyond their medical needs, as many experience socioeconomic challenges in their daily lives.”
declares Juan Carrión, president of FEDER.
The key to multidisciplinary research
The Spanish Multidisciplinary Society of Systemic Autoimmune Diseases (SEMAIS) vindicates research with the motto ‘Research is our hope’.
«Research in the field of rare diseases is the present and the future of these pathologies, many of which are little known. It allows us to characterize patients, assess risk and prognostic factors and possible new therapeutic targets. Multidisciplinary management through functional units, committees and consultations with circuits shared by all specialties is another of the fundamental pillars in the care of patients with rare diseases”.
emphasizes Dr. Patricia Fanlo, president of SEMAIS.
The importance of collaborating between different specialties to help assess rare diseases is another of the objectives pursued by this society.
The doctor Carmen Pilar Simeón, scientific director of SEMAISvalues the importance of clinical research as fundamental.
«Necessary to define groups of patients with similar characteristics and, thus, be able to define the different subgroups with the same clinical profile. On the other hand, basic research is essential to define the genetic characteristics and the different biomarkers».
Carmen Pilar Simeón, scientific director of SEMAIS.
For its part, the Spanish Federation of Neuromuscular Diseases (ASEM) calls for the public authorities to increase “the incentives for biomedical research and multidisciplinary health care for rare diseases with specific resources”.
«Treatment orphans, rare because infrequent»
Within rare diseases, some types of cancers called “rare” are collected.
On this type of pathology acts the State Transversal Group of Orphan and Rare Tumors (GETTHI) that today, more than ever, dedicates all its efforts to fighting cancers “orphans of treatment and rare because they are infrequent”.
And it is that this type of tumors, which account for 24% of the European totalmay not be “so strange when we take into account their molecular biology,” they point out from GETTHI.
Frequent and infrequent tumors can share molecular alterations that make them a common “target” for targeted pharmacological treatments, “what we commonly know as precision oncology”.
“It has been seen that a sequenced tumor sample can identify a wide range of mutations that can be triggered by different drugs. In general, around 50% of patients who undergo massive data sequencing (NGS) have at least one target mutation with potential targeted therapy.”
explain from the GETTHI Group.
This perspective offered by GETTHI makes it possible to increase the chances of survival and a better prognosis for thousands of patients affected by rare cancers.
For this reason, this group has launched a project that offers a transversal and free service to professionals from all over Spain.
“The creation of ‘National Transversal Molecular Tumor Board’ It is completed with the case registration platform that has been launched to collect information at a Spanish and international level. All this to increase knowledge and improve the approach to all types of cancer, not just the most common ones.”
With all these entities, and others, fighting hand in hand for research, improvement of diagnosis and treatment, as well as for improving the quality of life of patients and their survival, World Rare Disease Day brings a solidary course, scientific, human and social.
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