The average wait for a diagnosis of a rare disease is between 5 and 10 years

More than 80.000 people in Aragon suffer from rare diseases. Early detection is key to improving the prognosis and avoiding complications

About three months ago, the name of Detective Murciano came up in the conversations of the viewers of the La Revuelta program. Just two weeks after 2025 began, the name of another guest of David Broncano's program made its way into social networks: Noah Higón. In addition to their ability to charm the audience, the first and the second share that They are patients of rare diseases, whose World Day was celebrated last Friday. Like them, there are, according to data from the Health Research Institute of Aragon (IIS Aragón), more than three million people in Spain who suffer from them and between 80.000 and 90.000 in Aragon, a figure that has increased thanks to early diagnosis, "fundamental to improve the patient's prognosis and prevent irreversible damage." The average waiting time to obtain a prognosis depends on the disease, "but it can vary from 5 to 10 years."

This is highlighted by Irene Serrano Gonzalo, researcher in charge of the diagnostic and research laboratory at the Spanish Foundation for the Study and Therapeutics of Gaucher Disease, other Lysosomal and Rare Hematological Diseases (Feeteg). Serrano highlights that early detection is also important for "early administration of treatment, which can translate into a reduction of possible complications that the patient can develop."

To understand the importance of detecting and treating the disease early, it must be taken into account that the vast majority of rare diseases They have no cure. Early detection can help alleviate the consequences of the disease and even more, which is why Yolanda López defines it as "key". She, who is the social worker of the Aragonese Association of Neuromuscular Diseases (ASEM), The largest group of rare pathologies with more than 2.300 affected people, mentions Spinal Muscular Atrophy (SMA) and highlights that "early treatment can not only improve its evolution, but also prevent mortality."

Along these lines, Lopez highlights the importance of neonatal screening, which allows the disease to be detected before symptoms develop. According to information published by the IIS Aragón, "Aragón is one of the communities that carries out the largest number of neonatal screenings, which helps in the diagnosis of many of these pathologies."

In addition to neonatal screening, Serrano maintains that in the prevention of new cases also plays an essential role "the genetic counseling»This is a study that is carried out through a clinical assessment and specialized tests to determine whether there is a risk that a hereditary disease may recur or appear for the first time in a family. These tests, says Serrano, favor "a preventive and personalized approach."

But rare diseases are precisely that, "rare." It is this adjective that explains why there is a great lack of knowledge about them, which can lead to a delay in diagnosis and treatment"This delay is largely due to the similarity of symptoms with other more prevalent diseases, which means that patients have to go through multiple specialists until they are diagnosed," says the researcher.

Research in Aragon

A delay in diagnosis "has a negative impact on the quality of life of patients, making their subsequent management more difficult," says Serrano. In order to achieve early detection, it is essential to research into rare diseases. And how is it? Aragon in this matter? Serrano explains that “the research and treatment of rare diseases is supported by a network of hospitals and specialized centers.” She exemplifies that Feeteg collaborates with national and international research groups and works with patient associations such as Aspher Aragón to integrate the needs of patients and family members into the research projects they develop.

But these resources, "although valuable, are not sufficient to cover all needs," says Serrano. The researcher explains that "both regional, state and European aid are scarce, since in most cases they are allocated to more common diseases." For this reason, she says that It is "necessary" to increase investment both in infrastructure and research "to improve access to effective treatments and improve the quality of life of patients."

However, recent progress has been notable. López explains that, for example, "twenty years ago there were many more difficulties in determining and diagnosing" neuromuscular diseases, and he stresses that now "Important steps are being taken in genetics to define more findings."

Proof of this is given by Feeteg. Serrano comments that they have detected that More and more genetic studies are being requested, especially family members. For Serrano, this increase reflects "their importance for early detection."

These are not the only factors that allow progress in this area. Serrano also points to the "development of new technologies", a tool that allows "to identify more quickly and accurately pathologies that were previously difficult to diagnose". In addition, he maintains that it has also increased "the awareness and training of healthcare professionals has contributed."

Progress makes Lopez say that, now, we could almost say that rare diseases are not so rare. Serrano also points this out: "It is important to emphasize that, Without research, any disease is “rare”", since only through scientific study is it possible to understand and treat them appropriately."

However, the researcher points out that "there is still much to be done to reduce the time of diagnosis, with the aim of extending neonatal screening to the greatest number of diseases possible." 

Source: The newspaper of Aragon

Main Image: A newborn's heel prick test, in a file image. / Europa Press