What's wrong with Adeline Sotnikova's sister? What is the diagnosis of Masha Sotnikova, Adeline Sotnikova's sister?
Who is Adeline Sotnikova?
Before I find out what Adeline's sister is sick withSotnikova, we decided to talk more about the athlete herself. After all, it was she who recently proved to the whole world that she is the best young skater. As you know, this happened at the current Olympics-2014, in the Russian city of Sochi. After a hard and hard struggle with very strong athletes from other countries, Adeline Sotnikova was recognized as the best and deservedly received a gold medal in a solo performance.
Russian record holder
It should be specially noted that the 17-year-old championThe 2014 Olympics did not just win a gold medal, but also showed how great the potential of our huge country in figure skating. After all, it was she who broke several records that allowed her to get ahead in points. By the way, Irina Slutskaya, who won only silver and bronze medals, was the best in the single figure skating. In part, the current champion helped to win Masha's illness (Adeline Sotnikova's sister). After all, on the personal recognition of the figure skater, her talent and perseverance would hardly lead to an excellent performance of the planned program without constant thoughts about the most native and close person. So what is Sister Adeline Sotnikova's illness? You will see the answer to the question asked a little lower.
Family bonds
Even before the performance at the Olympics-2014 silverwinner of the European Championship Adeline Sotnikova told journalists about her motivation for further performances on the ice. She told me that she has a sister who has serious health problems. To some extent, this unpleasant event in the life of the figure skater and became one of the factors that still keeps her in the big sport, especially at crucial moments. The girl very much wants to help her sister and must earn as much as possible. Masha was already three operations. This required a lot of money. And Tarasova Tatyana Anatolyevna helped them very much. She quickly found a sponsor (company) that paid all current expenses. The sportswoman noted that she and Masha were lucky with their parents: they have a close family, although they all gather together only on weekends. Adeline has a pretty close and trusting relationship with her mother. And she perfectly understands how Mom and Dad have a hard time.
What's wrong with Adeline Sotnikova's sister?
As you know, Adeline Masha's younger sisterthe very childhood suffers from the syndrome of Tricher Collins (or Treacher Collins syndrome). By the way, this rare disease has another name, which sounds like "maxillofacial dysostosis." This is an autosomal dominant disease characterized by craniofacial deformity. For the first time it was described in 1900 by the English ophthalmologist Collins Edward Tricher.
Main symptoms
The diagnosis of Adeline's sister Sotnikova Masha wasimmediately after her birth. It should be noted that for such a serious disease characterized by a marked deformation of the skull and face. In addition, a sick person can completely lose his hearing. With this disease, the patient often has potentially life-threatening airway deviations. That's why Masha Sotnikova (Sister Adeline Sotnikova), like thousands of other patients, is constantly observed in doctors.
Degrees of disease
There are several degrees of this disease -from almost invisible signs to very severe forms. It should be noted that in most patients with this diagnosis the facial bones are rather poorly developed. This leads to the fact that a person has a "sunken" face, a very large nose, small jaws and a small chin. Some patients have a wolf mouth.
With more severe forms of micrognathia diseasedisplaces the language of children so that it forms an obstruction in the oropharynx, as a result of which the patient may develop deviations in the airways, which is extremely dangerous for life. In order to prevent a fatal outcome, the epiglottis must be surgically removed. Knowing about these subtleties, Adeline Sotnikova from childhood did everything to succeed in figure skating and earn enough money, so necessary for the treatment of her sister. Adeline in 4 years, got on skates, and thanks to this motivation, after 8-9 years, performed the most complex figures on the ice.
Causes of the disease
For what reason did Masha fall ill with this ailmentSotnikov? The syndrome of Tricher Collins is an exclusively genetic disorder. Most often, the cause of such a life-threatening disease is a nonsense mutation (or occurrence of a stop codon) in the TCOF1 gene, which leads to further haploinsufficiency. The presented syndrome passes by heredity according to the autosomal dominant principle and occurs only in 1 out of 50,000 newborn children. This disease occurs at a fairly early stage of development of the intrauterine fetus. To date, the relationship between the state of health of the mother or father with the appearance of such a mutation is not revealed.
It should be noted that such a diagnosis is most oftenis put already in the hospital. After all, this disease has clear clinical signs (especially in severe forms), namely: severe strabismus, small size of the mouth, ears and chin, as well as eyelid colobanks and an enlarged nose. By the way, it is these symptoms of the disease that make it very difficult to feed a newborn baby, which puts his life in danger.
Intellect and physical abilities
Sister Adeline Sotnikova Masha, like otherspatients with the syndrome of Tricer Collins, physically weakened. But at the same time, her intellect is fully preserved. Such patients go through all the stages of growing up on a par with their healthy peers. Although it should be noted that in some cases there may still be a delay in psychological development. In addition, often hearing impairment in such patients causes negative speech effects. Also, external changes can become a rather serious psychological problem for girls and boys, from which it is rather difficult to struggle without special help.
Treatment of the disease
The treatment of the Tricer Collins syndrome depends on the degree of the existing disease. As a rule, such therapy includes the following procedures:
Genetic consultations. Can be performed for an individual or for the whole family (depends on whether the disease is hereditary or not).
- Wearing hearing aids (in case the patient develops conductive hearing loss).
- Dental and orthodontic treatment. It is necessary to correct an incorrect bite.
- Speech therapy sessions with specialists, which are aimed at improving communication skills. By the way, defectologists work with those people who have problems with swallowing drinks or food.
- Surgical methods. Operations help improve the appearance of a person, as well as the quality of his life. </ ul </ p>
