Rare or infrequent diseases are pathologies of low individual prevalence, but high collective impact. In Chile, it is estimated that more than one million people live with one of these conditions, the majority of which are genetic in origin and whose diagnosis can take years to be confirmed.
Within the framework of the last National Day on Rare and Infrequent Diseases, the La Serena Hospital was the scene of a key meeting to make visible a reality that affects thousands of people in the country. The activity, organized by the Congress of Rare, Rare and Orphan Diseases of Chile and the Serenense health facility, featured the participation of Dr. Rosa Pardo Vargas, a prominent pediatrician and geneticist, head of the Genetics Service of the Clinical Hospital of the University of Chile and president of CERPOHCHI, who addressed the main gaps that exist in Chile for the diagnosis, treatment and inclusion of those living with these pathologies.
During her visit to the region, the specialist emphasized that the first major obstacle continues to be clinical suspicion. “You have to think about them first; I would say that is the initial step, and from there all the others come. If you think about it, you look for it,” he said. Explaining that any condition that deviates from the usual, that combines symptoms from different systems or that does not respond to the expected treatments, should alert health teams. From there begins a complex path, marked by the need for highly specialized tests, many of them genetic, which are mostly carried out outside the country and do not always have public financing, which generates profound access problems.
Dr. Pardo explained that about 80% of rare diseases have genetic origins and that the diagnostic process requires trained professionals, clear clinical criteria, and adequate interpretation of results. Even when the cause is identified, the challenge does not end there: only a small percentage of these pathologies have specific high-cost treatments, while in most cases management is based on rehabilitation, functional supports and continuous monitoring. All this, in a context where it is estimated that between 6 and 8% of the world’s population lives with a rare, uncommon or orphan disease.
Likewise, the geneticist stressed the importance of addressing the social impact of these conditions. Inclusive education, access to work, safe environments and support networks are determining factors so that people not only live longer, but live better. In this sense, he especially valued that this type of conference is held in regions, allowing knowledge to be decentralized, strengthening local teams and generating direct dialogue with patient associations, students, professionals and authorities.
HOSPITAL DE LA SERENA: SCENARIO OF THE LAST NATIONAL DAY
The meeting was very positive, since it had a high turnout and active participation from authorities, health personnel, representatives of study houses and patient groups in the area. For Dr. Rosa Pardo, these types of meetings are essential to update professionals, raise awareness among new generations and move towards a health system that recognizes and responds better to rare, uncommon or orphan diseases.
“The feeling is like a full heart. Mission accomplished, objectives achieved and we hope that the people who were able to attend have left with the same good impression as us,” highlighted the experienced geneticist.
Regarding the development of the day, the international reference specified that a first part focused on legislative, legal and administrative aspects, also reporting on the work and agreements reached with the Ministry of Health at the central level. Then, the rare diseases most prevalent in the region were addressed, with the aim of raising awareness among medical students and health teams. “The idea is to introduce them early into the existence of these conditions, especially those that occur in the region, and to highlight the importance of suspecting them when a case deviates from the usual. Finally, the meeting concluded with a working meeting with patient associations, both national and local,” said Pardo.
KATHARINA’S STORY: LIVING WITH A RARE DISEASE AND TRANSFORMING THE EXPERIENCE INTO ACTIVISM
Among the testimonies that marked the day was that of Katharina Pavletich, a 38-year-old woman, originally from the Coquimbo Region, who was the first person diagnosed in Chile with Fibrodysplasia Ossificans Progressiva (FOP), an extremely rare disease. His symptoms began in childhood and the diagnosis took several years to arrive, after an extensive medical search inside and outside the country, until it was finally confirmed through genetic studies abroad.
“I was the first to be officially diagnosed in Chile, but my symptoms began when I was four years old and the real diagnosis came four years later. At eight years old I finally received the diagnosis. Even so, being the first patient diagnosed does not mean that I was the first to present the condition.”
Today, Katharina has transformed her personal experience into a path of activism and support for other people and families facing rare diseases. Through a group of patients, caregivers and professionals, it works on visibility and support, placing emphasis on social, educational and labor inclusion. His message is clear, “continue to move forward despite the difficulties and demand more agile public policies that allow improving the quality of life of those who live with these pathologies.”
“It seems incredible to me that these events and meetings are decentralized from Santiago, because living with rare diseases or disabilities is very different depending on the place. It is not the same to be in Santiago, in Vitacura, in La Serena, in Ovalle, or in smaller communes like Combarbalá, where I am from. The context changes a lot, so it is very good that they are decentralized. I thank CERPOHCHI and those who made it possible for this to reach the regions. I think it is excellent “That these meetings serve to educate, especially the public health service. This is very important, because they are the visible face to new patients with rare, rare diseases or disabilities. It is essential that they understand what the law means.”
The holding of this day at the La Serena Hospital, far from the capital, was valued as a concrete step towards decentralization and education. An effort that seeks to place the issue of rare diseases on the public agenda and remember that, although they are called “rare,” their impacts are profound and collective.
