In 2008 it was established on February 29, as it is a “rare day”, as the World Rare Disease Day , and since then, every year, the last day of February (February 28 if the year is not a leap year) A day of awareness of this type of disease is celebrated.
For this reason, on such a special day as today, at Muy Interesante we wanted to give our support when it comes to raising awareness about rare diseases, and we are going to explain which are the most common in our society.
What is a rare disease?
A disease is considered rare, infrequent or orphan (other names by which “rare diseases” are also known) when it affects less than 1 in 2,000 people , although most of them affect only 1 in 100,000 people.
You may think that this is very little, since individually each of these diseases represents a very low percentage of the affected population, but it is estimated that there are around 7,000 different rare diseases that affect around 300 million citizens in the world, which that at the level of Spain supposes about 3 million people . Isn’t it so little anymore?
Most of these pathologies have a genetic origin, either due to family history or chromosomal alterations, and are usually chronic, non-contagious and degenerative problems. In addition, 2 out of 3 cases arise before the first 2 years of life.
They represent a great challenge when it comes to being diagnosed and treated , since, being so rare, it is not difficult for the professionals who have to detect them not to know where to start, since they do not have to have seen them in their life. apart from in the books (if they have). For this reason, many of the orphan diseases are not correctly diagnosed.
And I wish that were the only problem that people who suffer from them have, but no, the biggest problem is that, even if they were correctly diagnosed, many of them have not been studied in depth due to their “rarity”, which which results in no drugs appearing to treat these diseases, and the few that do appear, orphan drugs , are poorly researched and developed by the pharmaceutical industry for financial reasons. In addition, approximately 95% of these pathologies have no treatment and only receive medication to alleviate certain symptoms, not to diagnose, prevent or treat their disease, as happens with the lucky ones who have access to some orphan drug.
Brugada syndrome
It is a hereditary problem that consists of a defect in the electrical system of the heart , that is, the system that makes our heart beat. This problem is usually asymptomatic for people who suffer from it, but these people are more predisposed to present ventricular arrhythmia (a type of heart rhythm that consists of very fast and irregular beats), which can lead to sudden death due to cardiac arrest. As we have said, it is a genetic problem, so it can be detected in time with the appropriate tests.
It is estimated that 50 people out of 100,000 suffer from it.
As a curiosity, it was discovered for the first time by two Spanish cardiologists, Pedro and Josep Brugada, in 1992.
Guillain-Barré syndrome
It is a neurodegenerative pathology that consists in the immune system of the affected person attacking their own nervous system , which can affect the nerves that control muscular, painful, thermal and/or tactile movements. They often appear after having gone through a bacterial or viral infection.
The first symptoms consist of muscle weakness and tingling in the arms and legs, which can lead to paralysis, and in the most severe cases, it can affect the respiratory, speech or swallowing muscles (difficulty swallowing). , which requires admission to intensive care units .
There is no cure per se , but the symptoms suffered by the person will be treated while they recover, although treatments are usually used to strengthen the immune system and thus accelerate the improvement process. More than 80% recover with minimal or easily “solvable” consequences , while the rest die or survive with severe disability.
It is estimated that between 1 and 2 people in 100,000 suffer from it each year.
Tetralogy of Fallot and Transposition of the Great Vessels
These are two pathologies that occur due to cardiac malformations before birth , which are characterized by a bluish skin color and some difficulty in breathing on the part of the baby.
The first of these, Tetralogy of Fallot , consists of 4 defects in the structure of the heart that cause it to transport less oxygen to the body. It is often diagnosed during the first year of life.
As for the transposition of the great vessels , it consists of a malformation in which the two main arteries of the heart, the aorta and the pulmonary, are exchanged, which means that the blood that goes from the heart to the rest of the body cannot be oxygenated. .
Both require surgery to correct heart defects, and it is estimated that between 40 and 50 live births out of 100,000 suffer from it.
Familial Melanoma and Scleroderma
These are two skin conditions . The first of these, familial melanoma , is a form of malignant skin tumor characterized by 2 or more close relatives (parents, siblings, or children) suffering from it. In case of having close relatives who have had melanoma, the best prevention is self-examination of the skin in search of atypical moles and going to the dermatologist periodically, in this way you can detect it in time and take the appropriate measures. It is estimated that in Spain between 7 and 8 people out of 100,000 suffer from it each year.
As for scleroderma , it is an autoimmune disorder characterized by a hardening of the connective tissue that can only affect the skin (in the case of localized scleroderma) or also other organs and blood vessels (in the case of systemic scleroderma). ). It should be noted that there is no cure, but there are treatments to control symptoms and complications. It is estimated that between 25 and 30 people out of 100,000 suffer from it.
Narcolepsy
It is a sleep disorder characterized by a feeling of extreme tiredness during the day, in addition to uncontrollable sleep attacks and, occasionally, transient muscle weakness (for a short period of time). Sufferers often find it difficult to stay awake for long periods of time, falling asleep regardless of the circumstance. It tends to appear between the ages of 10 and 30 and has no cure, so it lasts a lifetime.
It is estimated that between 20 and 30 people out of 100,000 suffer from it.
References:
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