What is sick of Adeline Sotnikova’s sister? This question is often asked by fans of the young skater. In this regard, we decided to devote this article to this topic.
Who is Adeline Sotnikova?
Before finding out what the sister of Adeline Sotnikova was sick with, we decided to tell in more detail 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 fight with very strong athletes from other countries, Adeline Sotnikova was recognized as the best and deservedly received a gold medal in a single performance.
Russian record holder
It should be noted that the 17-year-old champion of the 2014 Olympics not only won a gold medal, but also showed how great the potential of our huge country in figure skating is. After all, it was she who broke several records, which allowed her to break ahead in points. By the way, Irina Slutskaya, who won only silver and bronze medals , was previously the best in women's single figure skating . In part, the current champion helped to win the illness of Masha (Adeline Sotnikova’s sister). Indeed, according to the skater’s personal admission, her talent and perseverance would hardly have led to an excellent implementation of the planned program without constant thoughts about the most dear and dear person. So what is Adelina Sotnikova’s sister sick of? You will see the answer to the question below.
Family bonds
Even before speaking at the 2014 Olympics, the silver medalist of the European Championship Adeline Sotnikova told reporters about her motivation for further performances on the ice. She said that she has a sister who has quite serious health problems. To some extent, this unpleasant event in the life of the skater has become one of the factors that still keeps her in big sports, especially at tipping points. The girl really wants to help her sister and must earn as much as possible. Masha has already had three operations. This required a considerable amount of money. And in this they were greatly helped by Tarasova Tatyana Anatolyevna. She quickly found a sponsor (company) that paid for all running expenses. The athlete noted that she and Masha were lucky with their parents: they have a friendly family, although they gather together only on weekends. Adeline has a fairly close and trusting relationship with her mother. And she perfectly understands how mom and dad have a hard time.
What is sick of Adeline Sotnikova’s sister?
As you know, the younger sister of Adeline Masha from childhood is suffering from Tricher Collins syndrome (or Treacher Collins syndrome). By the way, this rare disease has another name that sounds like “maxillofacial dysostosis”. This is an autosomal dominant disease characterized by craniofacial deformity. It was first described in 1900 by the English ophthalmologist Collins Edward Tricher.
Main symptoms
The diagnosis of the sister of Adeline Sotnikova Masha was made by doctors immediately after her birth. It should be noted that such a serious disease is characterized by a noticeable deformation of the skull and face. In addition, a sick person may be completely deaf. With such a disease, the patient quite often has life-threatening airway abnormalities. That is 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 imperceptible 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 also have a cleft palate.
In more severe forms of the disease, micrognathia displaces the tongue 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 life-threatening. In order to prevent death, the epiglottis must be removed surgically. Knowing about these subtleties, Adeline Sotnikova from childhood did everything to succeed in figure skating and earn enough money that is so necessary for the treatment of her sister. Adeline at the age of 4, she went ice skating, and thanks to this motivation, after 8–9 years she performed the most difficult figures on ice.
Causes of the disease
For what reason did Masha Sotnikova get this disease? Tricher Collins syndrome is a genetic disorder. The most common cause of such a life-threatening disease is the nonsense mutation (or the occurrence of a stop codon) in the TCOF1 gene, which leads to further haplon deficiency. The presented syndrome is inherited by an autosomal dominant principle and occurs only in 1 out of 50,000 newborns. This disease occurs at a fairly early stage of development of the fetus. To date, the relationship between the state of health of the mother or father with the appearance of such a mutation has not been identified.
It should be noted that such a diagnosis is most often made already in the hospital. After all, this disease has clear clinical signs (especially in severe forms), namely: severe squint, small size of the mouth, ears and chin, as well as eyelid colobomas and an enlarged nose. By the way, it is precisely such symptoms of the disease that make feeding a newborn baby quite difficult, which puts his life in danger.
Intelligence and physical abilities
Adeline Sotnikova’s sister Masha, like other patients with Tricher Collins syndrome, is physically weakened. But at the same time, she fully retains intelligence. Such patients go through all stages of growing up along with their healthy peers. Although it should be noted that in some cases, a delay in psychological development is still possible. In addition, hearing impairment in such patients often causes negative speech consequences. Also, external changes can become a serious psychological problem for girls and boys, which is quite difficult to deal with without special help.
Disease treatment
The treatment of Tricher Collins syndrome depends on the degree of the disease. As a rule, such therapy includes the following procedures:
- Genetic counseling. They can be carried out both for an individual person and for the whole family (it depends on whether this disease is hereditary or not).
- Wearing hearing aids (if the patient has conductive hearing loss).
- Dental and orthodontic treatment. It is necessary to correct a malocclusion.
- Speech therapy sessions with specialists who are aimed at improving communication skills. By the way, defectologists work with those people who have problems swallowing drinks or food.
- Surgical methods. Operations help to improve the appearance of a person, as well as the quality of his life.