Interesting >>>> What are orphan diseases?

What are orphan diseases?

"Orphan" has Greek roots "ορφανό". But this word in the scientific field is used to emphasize the singularity (loneliness) of a phenomenon. So in medical terminology the word "orphan" acquired the meaning - rare. Orphan diseases or rare diseases are a separate area of research, since there are very few statistics and records of such diseases, which gives rise to ignorance of the signs and lack of principles for the treatment of orphan diseases.

Orphan diseases are usually genetic. The treatment of genetic anomalies is fraught with many difficulties due to the practical impossibility of changing the genetic code, and, accordingly, directing biochemical processes in the human body to a different (correct) channel.

Orphan diseases often change the appearance of a person, making him an ugly creature in the eyes of others. But it must be remembered that science does not stand still and is looking for opportunities to solve the problems of people with orphan diseases, only the correct diagnosis of the disease is needed.

Doctors rarely deal with the etiology and pathogenesis of orphan diseases and are not able to establish their presence in a patient. People suffering from orphan diseases cannot receive adequate medical care, because they do not understand what is happening to them, and the prescribed treatment does not have effective results.

How to overcome the barrier of informational ignorance in the treatment of orphan diseases? In recent years, the media have begun to cover the signs of rare diseases more widely, but the lack of curiosity among media readers for multi-knowledge does not fulfill the task of public awareness of rare (orphan) diseases. Readers are not interested in reading details about a disease that they have never encountered and do not expect to face in the future.

We can only hope to improve the qualifications of general practitioners, who most often have the opportunity to meet a patient with an orphan disease and correctly identify a rare disease. Where can a doctor get knowledge about the signs and stages of treatment of an orphan disease? To do this, it is necessary to periodically get acquainted with the information of medical publications, be interested in the field of discoveries in medicine and the possibilities of experimental treatment of rare diseases.