What is Adelina Sotnikova's sister sick with? This question is often asked by fans of a young figure skater. In this regard, we decided to devote the presented article to this topic.
Who is Adelina Sotnikova?
Before we find out why Adelina Sotnikova's sister is sick, we decided to tell you 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 2014 Olympics, in the Russian city of Sochi. After a stubborn and hard struggle with very strong athletes from other countries, Adelina Sotnikova was recognized as the best and deservedly received a gold medal in a single performance.
Russian record holder
It should be especially noted that the 17-year-old champion of the 2014 Olympics not only won a gold medal, but also showed how great potential our vast country has in figure skating. After all, it was she who broke several records, which allowed her to break ahead in points. By the way, previously the best insingle women's figure skating was Irina Slutskaya, who won only silver and bronze medals. In part, the current champion was helped to win the illness of Masha (sister of Adelina Sotnikova). After all, according to the skater’s personal confession, her talent and perseverance would hardly have led to an excellent fulfillment of the planned program without constant thoughts about her dearest and closest person. So why is Adelina Sotnikova's sister sick? You will see the answer to the question asked below.
Family Ties
Even before the performance at the 2014 Olympics, the silver medalist of the European Championship Adelina Sotnikova told reporters about her motivation for further performances on ice. She said that she has a sister who has quite serious he alth problems. To some extent, this unpleasant event in the life of a figure skater has become one of the factors that still keeps her in big-time sports, especially at turning points. The girl wants to help her sister very much and must earn as much as possible. Masha has already had three surgeries. This required a lot of money. And Tarasova Tatyana Anatolyevna helped them a lot in this. She quickly found a sponsor (company) that paid all running costs. The athlete noted that she and Masha were lucky with their parents: they have a friendly family, although they all get together only on weekends. Adeline has a fairly close and trusting relationship with her mother. And she understands perfectly well how mom and dad have a hard time.
What is sick sisterAdelina Sotnikova?
As you know, Adelina's younger sister Masha has been suffering from Treacher Collins syndrome since childhood. By the way, this rare disease has another name, which sounds like “maxillofacial dysostosis”. It is an autosomal dominant disease characterized by craniofacial deformity. It was first described in 1900 by the English ophthalmologist Collins Edward Treacher.
Main symptoms
Sister Adelina Sotnikova Masha was diagnosed 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 can completely lose his hearing. With this disease, the patient quite often develops potentially life-threatening airway deviations. That is why Masha Sotnikova (sister of Adelina Sotnikova), like thousands of other patients, is constantly monitored 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 the majority of patients with this diagnosis have rather poorly developed facial bones. 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 displacesthe tongue of children in such a way that it forms an obstruction in the oropharynx, as a result of which the patient may develop deviations in the respiratory tract, which is extremely life-threatening. To prevent death, the epiglottis must be surgically removed. Knowing about these subtleties, Adelina Sotnikova did everything from childhood to succeed in figure skating and earn enough money, so necessary for the treatment of her sister. Adelina started skating at the age of 4, and thanks to this motivation, after 8-9 years she performed the most difficult figures on ice.
Causes of disease
For what reason did Masha Sotnikova fall ill with this disease? Treacher Collins Syndrome is an exclusively genetic disorder. The most common cause of this 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 is inherited according to an autosomal dominant principle and occurs in only 1 out of 50,000 newborns. This disease occurs at a fairly early stage in the development of the fetus. To date, no links have been found between the he alth status of the mother or father with the appearance of such a mutation.
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 strabismus, small size of the mouth, ears and chin, as well as colobomas of the eyelids andenlarged nose. By the way, it is these symptoms of the disease that make it quite difficult to feed a newborn baby, which puts his life in danger.
Intelligence and physical abilities
Adelina Sotnikova's sister Masha, like other patients with Treacher Collins syndrome, is physically weak. But at the same time, her intelligence is completely preserved. Such patients go through all stages of growing up along with their he althy peers. Although it should be noted that in some cases a delay in psychological development is still 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 quite difficult to deal with without special help.
Treatment of disease
Treater Collins syndrome treatment depends on the degree of the disease present. As a rule, such therapy includes the following procedures:
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sister of adeline sotnikova masha Genetic consultations. Can be carried out both for an individual and for the whole family (depending on whether this disease is hereditary or not).
- Wearing hearing aids (if the patient has a conductive hearing loss).
- Dental and orthodontic treatment. Needed to correct malocclusion.
- Speech therapy sessions with specialists aimed at improving communication skills. By the way, defectologists also work with those people who havehave trouble swallowing drinks or food.
- Surgical methods. Operations help improve a person's appearance as well as their quality of life.
