Usher's Syndrome: a description of the disease

Among genetic diseases , Usher's syndrome, named after the Dutch scientist, occupies a separate place. He described this disease in detail at the beginning of the 20th century.

Symptoms of the disease

Usher's syndrome is a hereditary disease characterized by total absence of hearing and partial loss of vision. As a rule, a person who has this syndrome is already born deaf. The absence of hearing is explained by retinitis pigmentosa. And vision is lost gradually because of abnormally fast aging of the retina of the eye, which provokes Usher's syndrome. Symptoms of the disease make themselves felt usually in adolescence, but there are cases when they are observed in young children, starting at five.

Falling eyesight

At an early stage, the syndrome manifests itself in the form of "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 darkness and can not orientate at all. Further, peripheral (lateral) vision is lost, it becomes tunneling. Central vision can remain good enough for many more years, but to the old age the patient becomes almost blind, which makes him extremely irritable and nervous.

In addition, a person suffers from increased fatigue and often feels a breakdown. The speed of the fall of vision depends on the individual characteristics of the course of the disease - each one has its own way, but always more or less gradually. In people with Usher syndrome in most cases, coordination of movements is impaired . At first it manifests itself in the dark time of the day, and in the future - and in the presence of light.

Usher Syndrome: treatment of the disease

Unfortunately, medicine is still powerless before this disease, there are no effective methods of treatment. But early diagnosis is extremely important in terms of providing psychological help to the patient. A hearing-impaired or completely hearing-impaired person is experiencing difficulties in communication. And having started to lose more and vision, often falls into a panic, 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 stable.

If you do not help the person with Usher's syndrome in time, there is a high probability that over the years he will acquire mental illnesses - for example, schizophrenia. If 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 can live a full life: to get education, work, create a family, etc. But in this case, without the help of specialists (psychologists, teachers , etc.) not enough.

Usher Syndrome: the causes of the disease

Why does this disease occur? As already noted above, Usher's syndrome is a hereditary disease, they can not be infected, it can not be acquired. It occurs in men and women equally. They suffer about five to six percent of the population of our planet.

Usher's syndrome is inherited by a recessive type. If both parents are sick to him 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 the gene for Usher syndrome is impossible - modern science has not yet found ways. With confidence you can know about this only if there were people in the family who had this illness. The gene carrier can not worry about itself - the symptoms of the disease will not be overtaken personally. But offspring - can, if the second parent also turns out to be the "owner" of the gene.

How to communicate with people with Usher's syndrome

Communication with a deaf person is difficult. First, 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 it is a question of a child who has encountered the first symptoms, he should carefully but firmly instill that there will be some limitations in life, which, however, one can cope with.
• People with Usher syndrome often go away from reality, not wanting to put up with the situation and to recognize the diagnosis. They try to pretend that nothing happens. And a healthy person is desirable in this case to play along, taking care of the most comfortable communication.
• Talking with a person suffering from the syndrome, you need to stand a little distance from him (50-100 cm) so that he can read information from the lips, and be sure to face the light source. In general, it is advisable to choose well-lit places for conversation.
• Seeking to attract the attention of such a person, one should approach him very closely.
• The field of vision of people with Usher's syndrome is limited. You need to gesture with this factor in mind - hands should be approximately at the chest level.
• In the dark, people with the syndrome can not do without outside help. They need to be accompanied, warning about the slightest obstacles.
• Do not hesitate to offer your help, because patients with Usher's syndrome are very vulnerable and often notorious. Asking someone about participation is a big problem for them.

Conclusion

If a person close to you suffers from this symptom, try to take this into account when communicating with him. Such people need to be taken care of gently and unobtrusively. If you need to help someone like that, try to do it discreetly, inspiring confidence in the patient, that he is excellent and he does everything himself. Never make fun of his shortcomings, and even more so do not scold him for them, even if you are angry - stay. A person must accept the situation and become convinced that Usher's syndrome is not so terrible.