Rare diseases are all those that they only affect a minority part of the population or they cannot be diagnosed as easily or treated as quickly as they should.
For a disease to be classified as "rare" it must affect a very limited number of people, that is, less than one in 2.000. However, we also find diseases that affect one in every 100.000 people.
Unfortunately there are a lot of these types of diseases, but every day we have more evidence about them. However, its treatments and medical advances are not evolving as quickly.
Rare diseases are generated due to genetic mutations within the individual's own organism. Therefore, it is impossible to prevent its appearance. There is a wide range of diseases, each one is of a typology that affects the person suffering from it differently.
Below we will explain some of these rare diseases, what they consist of and what symptoms they have.
Moebius syndrome
This disease has its origin in the genetics of the person. It is characterized by the lack of development of two of the most important nerves in our skull. For this reason, people with this abnormality have difficulties maintaining facial expressions and over time, the facial features and eye movement become paralyzed.
This lack of expression can be accompanied by speech difficulties, pronunciation problems and some drooling.
Schönlein-Henoch purpura
Also called PSH, it is characterized by an inflammation of the capillaries. Capillaries are the smallest blood vessels and this disease mainly affects those of the skin, those of kidney and those of intestine.
When it directly affects the capillaries of the skin, they become red and inflamed, taking on a purplish color. On the other hand, if the damaged capillaries are those of the intestines, the person may present blood in the urine and feces.
Amyotrophic Lateral Sclerosis
This rare disease causes a progressive loss of motor neurons and this makes it a neurodegenerative disease. It is very rare since only between 5 and 9 people in 100.000 suffer from it. Symptoms appear between 40 and 60 years of age. Both muscle degenerative complications and respiratory failure cause rapid and relentless deterioration.
Prader Willi syndrome
This rare disease develops during pregnancy. It was unveiled in 1887 by Langdon Down and its frequency is one person in 25.000. This disease is characterized by suffering from obesity, mental retardation and have a lower development of the muscles that directly affect the genital activity of the person.
Congenital Insensitivity to Pain
It is a genetic disorder that directly affects the nervous system. The nervous system is in charge of controlling blood pressure, heart rate, the ability to feel pain, as well as temperature.
As a consequence of not feeling, are at risk of injury more easily: trauma, fractures, burns, etc. This forces them to be daily under supervision at an early age to avoid possible injuries. As adults they should also keep a rigorous control of their blood pressure, sugar levels, etc. since if they suffered an internal injury they would not notice it.
Gilles de la Tourette syndrome
It is also known as "tic disease", a strange pathology that affects the nervous system. These tics are uncontrollable by the person, they are rapid, repetitive and involuntary movements. They are created by a group of muscles that are functionally related to each other. Sometimes, at the same time as tics, it can be an involuntary production of noises or words.
All the diseases described above have one thing in common and that is that are produced by the person's genetics and that there is nothing that can be done to avoid them. Despite this statement, there are great drugs on the market that, depending on the disease, help control and keep many of the symptoms of the disease at bay.
LMedicine and science advance by leaps and bounds and they increasingly guarantee greater control and better diagnosis in this type of disease.
Fight against rare diseases on February 28
As every year, next February 28 will be celebrated the Rare or Uncommon Disease Day, in order to increase the awareness of society about this type of disease. This year the proposed theme to focus on this day of celebration is the quality of life. A quality of life that must be cared for and kept in mind during all stages of a rare disease.
Do not forget that there are many people in Spain who suffer from a rare disease and many more direct relatives. Exists some neglect by the public administration which is in charge of guaranteeing an economic fund that safeguards and maintains the investigation of this type of disease. Without research and development there is no hope of finding remedies and treatments to alleviate serious symptoms and ailments.