Rare diseases day: how strange is it to be afflicted by a peculiar evil?



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Rare diseases affect a limited number of the population. According to the Spanish Federation of Rare Diseases (ERDF), there are about 7,000 of these diseases that are characterized by a wide spectrum of symptoms, as varied as the people themselves. We tell you what they are

This February 28 is celebrated the World Day of Rare Diseases, date that aims to make visible this situation that affects approximately 7% of the world population. The day was set on February 29, 2008, choosing this date as "a rare day", but it is finally celebrated every year on the last day of the month.

From Peru, patients from different associations gave their testimonials for the #UnoEnUnMillon campaign, where they show what it's like to live with their condition.

Rare diseases are mostly chronic and degenerative. According to the DREAMgenics infographic, 80% of them originate in genetics and 75% of the diagnosed patients are children.

Among its common characteristics is the early onset, since two out of three people present symptoms before two years, although the diagnosis of the disease can take on average five years.

In addition, one in five patients has chronic pain and one in three has poor motor, sensory or intellectual development. Rare diseases are attributed to 35% of deaths before one year, 10% between one and five years and 12% between five and 15 years, according to El Comercio.

Rare deseases

Neurofibromatosis: It is a genetic disorder that causes the formation of tumors in nerve tissue. These tumors can develop in any part of the nervous system, including the brain, spinal cord and nerves. Tumors are usually benign.

Erythropoietic porphyria: It affects 50 out of every 100,000 people. It is a form of porphyria (extreme sensitivity to sunlight), which varies in severity and can be very painful. It arises from a deficiency in an enzyme.

Marfan Syndrome: The hereditary disorder that affects the connective tissue, that is, the fibers that support and support the organs and other structures of the body, are usually tall and thin and have disproportionately long arms, legs, and fingers.

Guillain-Barré: It is an autoimmune neurological disorder in which the body's immune system attacks a part of the peripheral nervous system. The nerves stop sending the signals effectively and the muscles lose their ability to respond. It has also been found to be related to the Zika virus.

Rett Syndrome: It is a genetic-based neurological disorder that affects almost exclusively women and is present in one in every 12,000 births. The coincidence in some characteristics and the ignorance of the disorder makes that, in many cases, be confused with the autism, according to the site AutismGalicia.

Argyria Syndrome: It is a disease caused by prolonged exposure of silver in the form of salts, or metal and is characterized by the coloration of the skin and some organs of the patient in gray, bluish or gray-blue.

Tetralogy of Fallot: Unlike Argyria, this disease is a congenital heart disease characterized by four malformations that result in the mixing of arterial blood with venous blood with cyanotic effects (blue children) and affects 45 in every 100,000 people.

Ichthyosis: It is a skin disease of genetic origin, which makes the skin dry and scaly, like a fish.


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