UNR provides support to families, promotes scientific research and increases awareness of these diseases.
Every February 28th, Rare Disease Day (EPOF) is commemorated with the aim of raising awareness of these diseases, given that they represent a challenge for those who suffer from them and their families. These are pathologies whose prevalence in the population is equal to or less than one person per 2000 inhabitants. In our country, they affect 3,6 million people, which represents one in every thirteen.
They are chronic, complex, progressive, disabling and, in some cases, potentially fatal diseases. Seven out of ten have a genetic origin, 70% manifest at birth or during childhood and 3 out of 10 children will die before reaching the age of five. However, as knowledge is still very recent and is not widely available in the health network, obtaining a quick and accurate diagnosis as well as adequate treatment is difficult. The lack of information, resources and emotional support worsens the situation.
The biggest challenge is to reach an accurate diagnosis. This can take between five and ten years and require up to eight visits to different specialists before obtaining it. As a result of the delay in diagnosis, 35% of people do not receive support or treatment, 31% experience a worsening of the disease or symptoms, and 23% do not receive adequate treatment. In addition, people living with these types of diseases require care that includes both specialized clinical care and social services and psychological support for the patient and their family, under comprehensive and coordinated care.
In this context, the area of Science, Technology and Innovation for Development and the Health Center of the Universidad Nacional de Rosario Last year, they launched a comprehensive program to address rare or infrequent diseases with the aim of providing support to families, promoting scientific research and increasing the visibility of these diseases. The program hopes to improve the quality of life of those who suffer from these diseases and move towards a future where everyone has access to the care and support they deserve.
During the presentation of this Program, the creator of the Cantú Syndrome Foundation Argentina, Ingrid Heidenreich, shared her story from the moment she was pregnant in June 2014 and was told that her baby “had something but no one knew what.” Wally was born at the Martin Maternity Hospital and when he was four months old a pediatrician told her that he could have Cantú syndrome. At 6 months, blood samples were taken to the Netherlands for analysis because these studies were not yet carried out in Rosario and the disease was confirmed.
“If we are all asked what the first thing we need is, we will all answer the same: an early, accurate, timely diagnosis, because sometimes this saves a life,” he said, highlighting that Wally is the exception to the rule because international organizations estimate that diagnosis generally takes between five and ten years.
He also considered this program to be an achievement: “It is the first time that a university has opened its doors to us to work together, to see what we can do. Because doctors are faced with a disease they have never seen before, but if we make suspicions visible, diagnoses can be made sooner.”
The Program's objectives include promoting scientific research at the university level to improve the understanding and treatment of these diseases, making them visible in the community to foster empathy and solidarity, providing accessible information and resources at Health Centers, and providing emotional support and containment to affected families.
In this regard, the Chair of Child and Adolescent Psychiatry of the Faculty of Medical Sciences of the UNR has for a year now provided a meeting space for families of patients with these diseases in which experiences, challenges and advice are shared and the opportunity is provided to talk about the problems that affect them, letting them know that “they are not alone.” In addition, there are spaces for information and support at the University Health Center, both for care and consultation and for the training of health personnel so that they can provide adequate support and refer patients to specialized resources.
Within the promotion of scientific research, the Program includes a survey of academic and scientific studies accredited at the University, generating support and incentive devices for the development of research projects on Rare Diseases, as well as academic meetings for the exchange of knowledge and collaboration between researchers and health professionals.
Commemorative event
On February 28th at 8 am, during the raising of the national flag at the National Flag Monument, a commemorative event will take place for the day of rare or infrequent diseases. During the event, a billboard will be placed next to a tree that was planted three years ago in front of the La Fluvial Building, in recognition of the organizations that work in the field of rare diseases, symbolizing hope and visibility for affected patients.
The sign will include a QR code that provides access to the national list of rare diseases, in accordance with National Law 26689 and Provincial Law 13892, published at https://www.argentina.gob.ar/salud/pocofrecuentes . It will also include the national list of rare disease referral centers, the Provincial Registry of Rare Diseases, an email address for inquiries, and a direct contact phone number. This installation aims not only to provide information but also to foster empathy and understanding within the community, promoting an inclusive environment.
More information: promocionsalud@unr.edu.ar catedrapaido.fcm.unr@gmail.com . Instagram: @epof.stafe.org
Journalist: Victoria Arrabal/ Photographers: Karen Roeschlin and Camila Casero