Among genetic diseases, a special place is occupied by Usher syndrome, named after the Dutch scientist. He described this disease in detail at the beginning of the 20th century.
Symptoms of the disease
Usher syndrome is a hereditary diseasewhich is characterized by complete lack of hearing and partial loss of vision. As a rule, a person who has this syndrome is already born deaf. The lack of hearing is due to retinitis pigmentosa. And vision is gradually lost due to the abnormally rapid aging of the retina, which provokes Usher syndrome. Symptoms of the disease manifest themselves usually in adolescence, but there are cases when they are observed in young children from the age of five.
Fall of sight
At an early stage, the syndrome appears as“Night blindness”, when a person practically loses the ability to see in places that are not sufficiently illuminated. Unlike healthy people, it does not adapt to the darkness and is completely unable to navigate it. Then peripheral (lateral) vision is lost, it becomes tunnel. Central vision can remain quite good for many years, but in old age the patient becomes almost blind, which makes him extremely irritable and nervous.
In addition, a person suffers from elevatedfatigue and often feels weak. The speed of vision loss depends on the individual characteristics of the course of the disease - this happens for everyone in their own way, but always more or less gradually. In people with Usher syndrome, coordination of movements is impaired in most cases. At first it manifests itself in the dark, and later - in the presence of light.
Usher syndrome: treating a disease
Unfortunately, medicine is still powerless beforeThere is no effective treatment for this disease. But early diagnosis is extremely important in terms of providing psychological assistance to the patient. A person with hearing impairment or a person who is deaf or hard of hearing already experiences difficulties in communication. And starting to lose more and vision, often panics, closes, refuses to contact with the outside world. The situation is complicated by the fact that the first symptoms occur in adolescence, when the psyche is not very stable.
If time does not provide assistance to a person withUsher syndrome, it is highly likely that over the years he will acquire mental illness - for example, schizophrenia. When the first symptoms are found, you need to consult a doctor and conduct a series of genetic examinations. And if the diagnosis is confirmed, gently adapt the patient to a new reality in which he may well live a full life: get an education, work, create a family, etc. But in this case without the help of specialists (psychologists, educators, etc.) not enough.
Usher syndrome: causes of disease
Почему возникает это заболевание?As noted above, Ushera syndrome is a hereditary disease, they cannot be infected, it cannot be acquired. It occurs in men and women equally. They suffer from about five to six percent of the population of our planet.
Usher syndrome is inherited by recessive type.If both parents are sick with them or are carriers of the corresponding gene, then the probability that the child will be born with the syndrome is about 25%. If the carrier (or patient) is only one, the risk is negligible. The probability is about 0.5%. But the child will definitely be the carrier of the disease.
Check yourself for Usher syndrome geneimpossible - modern science has not yet found ways. One can know with certainty about this only if there were people in the clan who had this disease. The gene carrier may not worry about itself - the symptoms of the disease do not personally overtake him. But the offspring - can, if the second parent will also be the "owner" of the gene.
How to communicate with people with Usher syndrome
Communication with a deaf visually impaired persondifficult. Firstly, there is practically no means of communication, and secondly, patients with Usher syndrome are often aggressive, irritable and offended by the whole world. Therefore, you need to have remarkable patience to successfully contact.
Relatives, friends and others who often communicate with people suffering from this genetic disease, experts give the following tips:
- If we are talking about a child who is confronted with the first symptoms, he should carefully but firmly instil that in life there will be some limitations with which, however, you can cope.
- People with Usher syndrome often move away fromreality, not wanting to put up with the state of things and accept the diagnosis. They try to pretend that nothing is happening. And it is desirable for a healthy person to play along in this case, taking care of the most comfortable communication.
- Разговаривая с человеком, страдающим синдромом, you need to stand at a short distance from him (50-100 cm) so that he can read information from the lips, and always face the light source. It is generally advisable to choose well-lit places for conversation.
- In an effort to attract the attention of such a person, you should approach him very closely.
- The field of view of people with Usher syndrome is limited. Gesturing is necessary taking into account this factor - the hands should be approximately at chest level.
- At night, people with the syndrome can not do without outside help. They need to be accompanied, warning of the slightest obstacles.
- Do not hesitate to offer their help, because patients with Usher syndrome are very vulnerable and often notorious. To ask someone for participation is a big problem for them.
Conclusion
Если близкий вам человек страдает этим симптомом, Try to take this into account when communicating with him. Such people should be taken care of gently and unobtrusively. If you need something to help such a person, try to do it imperceptibly, instilling confidence in the patient that he is perfectly well and cope with everything. Never make fun of his shortcomings, much less do not scold him for them, even if you are angry - restrain yourself. A person should come to terms with the situation and be entrenched in the thought that Usher syndrome is not so scary.
