The date October 23 is known in a number of countries as Kabuki Awareness Day. Unfortunately for a person, the diseases that bring him suffering are very diverse, and a number of diseases are known only to a narrow circle of specialists and people faced with the disease.
Currently, almost every person knows at least something about the flu virus, ARVI, pneumonia, COVID-19 and other diseases that «face» in life. We also know about terrible incurable diseases that claim thousands of human lives. But among all this unpleasant diversity there are also diseases that are extremely rare, but, unfortunately, do not become milder.
For the most part, rare diseases are genetic in nature and are present in various fields of medicine. Rare diseases include the so-called Kabuki« » syndrome, also known as Kabuki« »grim syndrome. The disease got its name from characteristic external signs, manifested in the fact that the patient’s face takes on the expression of a made-up actor of the Japanese Kabuki Theater.
The first description of the disease and its signs, made by Japanese doctors, occurred in 1981, and the cause of this disease in humans was established quite recently: in 2010. This reason was a mutation in one of the genes, which, according to experts, occurs at the time of conception.
Characteristic signs of Kabuki syndrome on the face of a person suffering from – disease are not the only manifestations of this disease. It is multi-symptomatic and is often accompanied by various disorders, including – mental retardation, skeletal abnormalities, growth retardation, hearing loss, taste abnormalities, behavioral abnormalities, etc. Not all of these manifestations will necessarily be present in one person with Kabuki syndrome, but in any case there will be several symptoms.
Diagnosis of this rare disease is possible from birth, since certain signs of it have been present since birth. Some symptoms may develop as the child grows older. The presence of the slightest signs is a reason for a thorough clinical examination.
There is no specific treatment system for Kabuki syndrome; treatment methods are determined for each individual case. Somewhere – these are growth hormones, somewhere – hearing aids, somewhere – surgical intervention.
An important aspect of the problem is the issue of socializing the child and providing assistance to his parents. Here we are talking not only about material support, which is also extremely important. The task of public, charitable, medical bodies, institutions and organizations is also to deal with issues of educating future parents, providing psychological and social support to families in which a child with a rare disease was born.
One of these public organizations was the Interregional Association of Disabled Children and Parents «Kabuki» Syndrome. It was these people who initiated the Kabuki Syndrome Awareness Day. On their page on social networks, parents who already have some experience caring for children with this rare disease help those who have just encountered this problem. The main objectives of the public organization include helping families overcome social isolation, socializing the child, exchanging experiences and educating. I would like to believe that the Association’s initiative will be supported throughout the world, and Kabuki Awareness Day will receive international status.
The research of rare diseases is paid special attention to specialists. In Europe, a specially created organization for the study of rare diseases – EURORDIS was established and operates. In order to attract the attention of society, public and private structures of the healthcare system to the problem of people suffering from rare diseases, on the initiative of this medical organization, the International Day of Rare Diseases was established.