Among genetic diseases, Usher syndrome, named after the Dutch scientist, occupies a special place. He described this disease in detail at the beginning of the 20th century.
Symptoms of the disease
Usher syndrome is a hereditary disease characterized by a complete lack of hearing and partial loss of vision. As a rule, a person with this syndrome is already born deaf. Lack of hearing 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 usually come to light in adolescence, but there are times when they are observed in young children, starting at the age of five.
Vision loss
At an early stage, the syndrome manifests itself in the form of "night blindness," when a person practically loses his ability to see in places that are insufficiently lit. Unlike healthy people, he does not adapt to the dark and absolutely can not navigate it. Then peripheral (lateral) vision is lost, it becomes tunneling. Central vision can remain quite good for many years, but by 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 rate of visual decline depends on the individual characteristics of the course of the disease - for each this happens in its own way, but always more or less gradually. In people with Usher syndrome, in most cases, coordination of movements is impaired . At first, this manifests itself in the dark, and later on 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 assistance to the patient. A person who is hard of hearing or who is completely hearing impaired has difficulty communicating. And starting to lose his sight, he often panics, closes, refuses to contact 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 don’t help a person with Usher’s syndrome in time, it’s highly likely that over the years he will develop mental illnesses, such as schizophrenia. If you find the first symptoms, you need to see 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 an education, work, start a family, etc. But in this case, without the help of specialists (psychologists, teachers , etc.) not enough.
Usher syndrome: causes of the disease
Why does this disease occur? As noted above, Usher syndrome is a hereditary disease, they cannot be infected, it cannot be acquired. It occurs in men and women equally. It affects about five to six percent of the world's population.
Usher syndrome is inherited by a recessive type. If both parents are sick with it or are carriers of the corresponding gene, then the probability that the child will be born with the syndrome is about 25%. If there is only one carrier (or patient), the risk is negligible. The probability is about 0.5%. But the child will definitely be the carrier of the disease.
It is impossible to check for the presence of the Usher syndrome gene - 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 disease. The carrier of the gene may not have to worry about itself - the symptoms of the disease will not personally overtake it. But the offspring - they can, if the second parent also turns out to be the "owner" of the gene.
How to communicate with people with Usher syndrome
Communication with a deaf visually impaired person is difficult. 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 in order to successfully communicate.
Relatives, friends and other people who often communicate with people suffering from this genetic disease, experts give the following tips:
- If we are talking about a child who encountered the first symptoms, he should carefully, but firmly suggest that in life there will be some limitations, which, however, can be dealt with.
- People with Usher syndrome often go away from reality, not wanting to put up with the situation and accept the diagnosis. They are trying to pretend that nothing is happening. And it is advisable for a healthy person to play along in this case, taking care of the most comfortable communication.
- When talking with a person suffering from the syndrome, you need to stand at a small distance from him (50-100 cm) so that he can read information from his lips, and always face the light source. In general, it is advisable to choose well-lit places for conversation.
- In an effort to attract the attention of such a person, you should come very close to him.
- The field of view of people with Usher syndrome is limited. Gesture should be subject to this factor - hands should be approximately at chest level.
- At night, people with the syndrome cannot do without outside help. They must be accompanied, warning of the slightest obstacles.
- Do not be shy to offer your help, because patients with Usher syndrome are very vulnerable and often notorious. To ask someone about participation is a big problem for them.
Conclusion
If a person close to you suffers from this symptom, always 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 such a person in something, try to do it discreetly, instilling confidence in the patient that he is excellent in coping with everything. Never make fun of his shortcomings, and even more so do not scold him for them, even if you are angry - hold back. A person must come to terms with the situation and become entrenched in the idea that Usher syndrome is not so scary.