Rare Diseases, The Invisible Pain Of Millions Of People

Rare diseases are the invisible face of human pain, diseases that kill lives and that, however, are usually unknown to both general society and the scientific-medical community.

Rare or infrequent diseases are those that are characterized by their low incidence if we attend to the general population. However, these are not isolated cases, far from it, but are suffered by 6-8% of the world’s population.

This count includes up to 7000 rare diseases and, specifically, the figures that we handle of people with these diseases in the Western world are chilling: 27 million Europeans, 42 million Hispanic Americans and 25 million North Americans.

It can happen to anyone, it is not strange to suffer from a rare disease

No one is exempt from danger. This should be very clear to us: it can happen to everyone. It is not necessary to be born with a disease. This can appear in our adolescence or in our adulthood without warning. When this happens a person is faced with numerous problems:

• This occurs for three main reasons: because these pathologies are surrounded by great ignorance, because it is difficult to access the necessary information and because the location of professionals or specialized centers is difficult. IF YOU DO NOT HAVE A DIAGNOSIS, IT IS NOT THAT YOU ARE INVISIBLE, IT IS THAT YOU DO NOT EXIST.
• As a consequence, both the patient and the family are affected, as this delay in diagnosis makes it difficult to access treatment at the right time, which results in an aggravation that would have been avoidable in 30% of cases.

• Furthermore, in countries like Spain, more than 40% of the people who suffer from these pathologies do not have adequate treatments.
• This, as is normal, is experienced with great anguish for the affected people, aggravating the consequences of the perceived social rejection of the incomprehension that surrounds them.

Opening my eyes to invisibility

Rare diseases are largely chronic and degenerative. What’s more, 65% of these pathologies are serious and disabling. This is determined due to some characteristics that these diseases present. Some of them, we have collected in the following points:

• : the data indicates that 2 out of 3 appear before the age of 2 years.
• : the frequency of appearance of these pains is in 1 in 5 affected people.
• that reduces the autonomy of the person (1 in 3).
• About half of the cases have the affected person. 35% of deaths occur before the year, 10% between 1 and 5 years and 12% between 5 and 15 years.

Create networks of hope beyond the hands

As stated by the Spanish Federation of Rare Diseases, “the physical, psychological, neurological, affective and aesthetic consequences suffered by these people in their relationships contribute to the appearance of problems of great impact”.

The fact of giving them visibility is not easy, because talking about rare diseases we end up being too general. This is important because, among other things, the manifestations of each disease are very different; In other words, for example, no two cases of lupus are the same.

As we see in this documentary, the fact that the term invisibility is associated with Rare Diseases is largely determined by the fact that one person with this condition is lost among the thousands.

Rare diseases are not only medical enigmas, but they are also social and emotional enigmas that prevent millions of people from developing their lives and their projects. Fears, anguish, depression … Right now we are in a tunnel where there is no light, but if we combine efforts and awareness, we will find the way out together. There is hope.