What's wrong with Adeline Sotnikova's sister? This question is often asked by fans of the young figure skater. In connection with this, we decided to devote this article to this topic.
Who is Adeline Sotnikova?
Before we find out what the sister of Adeline Sotnikova is sick with, we decided to tell in more detail about the sportswoman 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 Olympic Games-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 champion of the Olympics-2014 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. Partly 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.
Even before the performance at the Olympic Games-2014 silver medalist 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 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 in this they were very much helped by Tatyana Anatolyevna Tarasova. 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 friendly 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 sister suffers from the syndrome of Tricher Collins (or Treacher Collins syndrome) from the very childhood. 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.
The diagnosis of Adeline's sister Sotnikova Masha was diagnosed by doctors immediately 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 (Adeline Sotnikova's sister), like thousands of other patients, is constantly observed by 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 the disease, micrognatia displaces the children's language so that it forms an obstruction in the oropharynx, as a result of which the patient may develop abnormalities in the airways, which is extremely dangerous for life. In order to prevent a lethal outcome, the epiglottis should be surgically removed. Knowing about these subtleties, Adeline Sotnikova, from her 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 Sotnikova get sick with this ailment? The Syndrome of Tricer Collins is an exclusively genetic disorder. Most often, the cause of such a life-threatening disease is a nonsense mutation (or the appearance 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 often put in the maternity 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 child, which puts his life in danger.
Intellect and physical abilities
Sister Adeline Sotnikova Masha, like other patients with the syndrome of Tricer Collins, is physically weakened. But at the same time, her intellect is fully preserved. Such patients go through all stages of growing up on a par with their healthy peers. Although it should be noted that in some cases, however, a delay in psychological development is possible. In addition, often hearing impairment in such patients causes negative speech consequences. Also, external changes can become a rather serious psychological problem for girls and boys, which is difficult to fight 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 conducted for an individual or for the whole family (depends on whether the disease is hereditary or not).