Gaucher’s disease, Prader-Willi syndrome and other diseases so rare that you will be left with your mouth open.
«What? What does he have? She had never heard of that disease! Kind of weird, right? If this conversation sounds familiar to you, it is because although rare diseases are, as their name indicates, very rare, there are many and surely you know someone who has the misfortune of suffering from one of them.
According to the World Health Organization (WHO) there are about 7,000 rare diseases, which afflict 7 percent of the world’s population. Namely, 7 out of 100 people can suffer from them. We share some of the rarest…
Gaucher disease (GD)
It is a genetic disorder in which the enzyme glucocerebrosidase is missing, which helps to metabolize glucocerebroside, a type of fat that, when not metabolized, accumulates in cells, causing an increase in the size of various organs. It mainly affects the liver, spleen, bone marrow, and sometimes the central nervous system and lungs.
Moebius syndrome
It causes facial paralysis and lack of movement in the eyes, since two cranial nerves do not develop well. It also leads to drooling and speech difficulties. Those who suffer from it cannot make gestures.
Guillain Barre syndrome
It is a disease that occurs when the immune system attacks the nervous system by mistake, leading to inflammation of the nerves, causing muscle weakness and paralysis.
Schölein-Henoch purpura
The capillaries or small blood vessels become inflamed, affecting the capillaries of the skin, the intestine and the kidneys.
Hutchinson-Gillford Progeria
Syndrome that causes premature aging from the moment of birth. People who suffer from it seem old, even if they are actually young children.
Prader-Willi syndrome
This syndrome, characterized by psychomotor retardation, obesity, and a disorder of the testicles or ovaries, can cause short stature, increased fat mass, and decreased muscle mass.
Amyotrophic Lateral Sclerosis
It is a neurodegenerative disease that causes a progressive loss of motor neurons, deteriorating the muscular part of the limbs, but in an asymmetric way. Stephen Hawking is perhaps the most famous patient.
On February 29, World Rare Disease Day is celebrated, so we ask you to please share this note to raise awareness, because some of the people who suffer from these diseases do not have medical coverageas strange as they are, because many insurances do not provide medications or treatments because they are not «on the list».