Patients associations are joined all over the day without diagnosis, which is celebrated on Tuesday, April 29 To highlight the main challenges It considers not only the delay or absence of diagnosis for those with rare diseases, but also the difficulty in accessing it.
In Spain, it is estimated More than 3 million people live with rare or diagnostic illnesses More than half of them expect to achieve a diagnosis for more than 6 years, which in more than 70% of cases they live with genetic, chronic and degradation pathologies.
Middle The main causes Since this detection delay Complexity and lower vulnerability It classifies these syndromes and creates a higher expertise, the concentration of cases and a wide range of approach and experience required for their attention.
As for this situation, this 2025, The sub -movement has introduced a statement To highlight the challenges in the absence of diagnosis, that is, in those cases the “name” of the disease.
The European and Latin American alliances of rare diseases (Eurvidis and Alifor, respectively) support this statement; The Federation of the Rare Diseases of Spain (Federer) or the People’s Association (Anpe) in the epilepsy.
From an international perspective, these organizations are one of their main demands to guarantee That European cooperation It is provided in other fields of health such as research, treatment or record It is also an integral approach to the needs of the people without the diagnosis.
To do this, they ask Participating in projects such as joint action on EnR’s coordination (European Reference Networks) The National Health Organization (SNS) targets one of the task groups, especially “diagnostic disease programs.”
They demand internationally 616874 Activation in the Health System of the Code “fully explored the rare disorder without a specific diagnosis” This is important to know how many people in this situation in each country, so they support subsequent access when they are available.
This is connected by the need to recognize people and family without a diagnosis Differential combination Recognizing the tireless working sub -cloth to respond to people who face this situation, as well as the administration of an international, but national and regional perspective.
They also bet Promote plans to improve research contacts In Rare diseases Its stability is shared and disseminated, so that it can quickly, agility and health practice, ie patients.
Similarly, they argue that they should grow internationally Communications Campaigns targeting public and health professionals In addition to providing training and resource programs that allow patients to improve their rights, protect their rights and grow more effectively within the health system, with the aim of teaching them about the early diagnosis and the importance of available resources.
Challenges in Spain
Within our borders, the bet of the sub -movement is firm: Recognize and improve the current supported plans Rare Disease Research Institute (IER) Diagnosis (IER) Diagnosis (SPAUDP) or Rare Diseases Network (Ciberr) Biological Medical Research Center
In addition to these projects, associations They ask to support the projects created A coordination with patients and patient organizations who do not diagnose rare illnesses and different reference centers in Spain.
At the protocol level, They should guarantee the sync and expansion of the birth baby screenship tests and genetic testsBasic for supporting the diagnosis, renewing the SNS General Service Department and implementing a new list of genetic tests.
In addition, the movement collects in its report To implement structures and ways This allows the health system to continue in the diagnostic process when the disease is “unnamed”. In this sense, they are necessary to evaluate the impact of already ongoing initiatives, such as the impact Genomic 2 project at its second stage, as well as guaranteeing its continued and medical use.
In addition, in some cases the diagnosis and treatment indicates how to prevent Disability Early diagnosis and proper management in other cases can change the impact of disability, therefore, the welfare of the people and their families.
To do this, they remember, it’s basic Create limited maintenance circuits and comprehensive careCenters, Services and Reference Units (CSUR) Network Improving, Expanding and Providing and Providing Child Patients With Rare Diseases, Social -Sacrament Integration of Health Centers, as well as coordinating medical, psychology, social and educational features to improve the care of child patients.
Finally, they also focus on importance Give priority to the well -being of people and families In matters such as mental health, giving them mental social support helps to face the challenges derived from the uncertainty of their condition
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