Tuesday, February 27, 2024
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Invisible sick

When we hear about rare diseases, we think that they are pathologies that very few people in the world suffer from when in reality 7 out of 100 suffer from a disease of this type. In fact, in Spain there are more than three million people with a rare disease. This means that, for example, 14 of the 200 people who travel on a plane or 23 of the 324 who board a train suffer from them, 1,260 in a concert or 6,467 in a football stadium.  

These diseases not only affect patients but also turn the life of their entire family unit upside down, to which it should be added that they are often unknown even by the doctors themselves, and that there is little social empathy and limited care resources. It must be taken into account that both children and adults are affected, that during outbreaks, -which they can even experience every month throughout their lives-, they are totally dependent.  

These circumstances are exacerbated even more for autoinflammatory patients who become invisible, because when apparently healthy they arouse great medical confusion and a lot of social incomprehension. Autoinflammatory diseases are characterized by the presence of episodes of fever and inflammation without any type of infection causing it. They are diseases caused by genetic alterations, that is, they appear because a certain portion of the genes has been modified by a type of accident called mutation, so they are usually hereditary.

As explained by the Spanish Association of Familial Mediterranean Fever and Autoinflammatory Syndromes, Stop FMF, -which has a delegation in Málaga-, “each patient is a different world, and the evolution of the disease and symptoms depend on many factors, so no two patients are the same”, to which it should be added that there are people with several associated autoinflammatories, a circumstance that complicates the diagnosis and favors a significant delay in it.

This association welcomes and accompanies families throughout the process of accepting the disease, learning how to manage it and normalizing it as much as possible. In this sense, it has a psychologist and a social worker to care for families in managing emotions, empowering them in their illness and informing and accompanying them in the request for help and resources.

As medical studies in genetics advance, the number of autoinflammatory diseases that come to light increases, although the most information is on Familial Mediterranean Fever – FMF, Marshall Syndrome or Pfapa, Periodic Syndrome associated with the TNF receptor – TRAPS , Hyper-IgD syndrome and periodic fever-HIDS and Cryopyrinopathies or cryopyrin-associated periodic syndromes (CAPS).

Ole Benalmádena, in collaboration with the Stop FMF association, will offer a series of articles and reports in which we will delve into each of these diseases and address all the problems not only medical but also social, suffered by both those who suffer from them and their families.  



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