Yini engalungile nodadewabo ka-Adeline Sotnikova? Kuyini ukutholakala kukaMasha Sotnikova, udadewabo ka-Adeline Sotnikova?

Yini engalungile nodadewabo ka-Adeline Sotnikova? Lo mbuzo uvame ukubuzwa abalandeli be-Skater skater encane. Mayelana nalokhu, sanquma ukunikela lesi sihloko kulokhu sihloko.

Ubani u-Adeline Sotnikova?

Ngaphambi kokuba sithole ukuthi udadewabo ka-Adeline Sotnikova ugula ngani, sanquma ukutshela imininingwane emayelana nomdlali wezemidlalo ngokwakhe. Phela, nguyena osanda kufakazela emhlabeni wonke ukuthi uyena mdlali osemncane kakhulu. Njengoba wazi, lokhu kwenzeke emidlalweni yamanje yama-Olympic-2014, edolobheni laseRussia laseSochi. Ngemuva komzabalazo okhuni kanzima nabadlali abaqinile kakhulu bevela kwamanye amazwe, u-Adeline Sotnikova waqashelwa njengendlela engcono kakhulu futhi efanelwe ukuthola imali yegolide ngokusebenza komuntu.

Umnikazi werekhodi yaseRashiya

Kumele kuqashelwe ngokukhethekile ukuthi umdlali oneminyaka engu-17 ubudala we-Olimpiki-2014 akazange nje anqobe indondo yegolide, kodwa futhi wabonisa ukuthi kungenzeka kangakanani lelizwe lethu elikhulu ekudwebeni. Ngemuva kwalokho, nguye owephule amarekhodi amaningi amvumela ukuba aqhubeke emaphuzu. Ngendlela, u-Irina Slutskaya, owathola izindondo zesiliva neyethusi kuphela, nguye owayengumdlali ohamba phambili. Ngokwengxenye iqhawe lamanje lasiza ukunqoba ukugula kukaMas (udadewabo ka-Adeline Sotnikova). Phela, ekuqaphelweni komuntu we-skater, ikhono lakhe nokubekezela ngeke kuholele ekusebenzeni okuhle kakhulu ohlelweni oluhleliwe ngaphandle kwemiqondo eqhubekayo mayelana nomuntu ozalwa kakhulu nomuntu oseduze. Ngakho-ke ukugula kukaDade Adeline Sotnikova? Uzobona impendulo yombuzo obuzwe kancane.

Ubuhlobo bomndeni

Ngisho nangaphambi kokusebenza kweMidlali ye-Olympic Games-2014 ye-European Championship, u-Adeline Sotnikova utshele izintatheli ukuthi ufuna ukuqhutshwa kweqhwa. Wangitshela ukuthi unodade ophethe izinkinga ezinkulu zempilo. Ngokwezinga elithile, lo mcimbi ongajabulisi empilweni ye-skater yomdwebo futhi waba esinye sezici ezisamgcina emdlalweni omkhulu, ikakhulukazi ngezikhathi ezibalulekile. Intombazane kakhulu ifuna ukusiza udadewabo futhi kufanele izuze okuningi ngangokunokwenzeka. UMas wayesesevele esebenza. Lokhu kudinga imali eningi. Futhi kulokhu basizwa kakhulu nguTatyana Anatolyevna Tarasova. Ngokushesha wathola umxhasi (inkampani) okhokhele zonke izindleko zamanje. Umdlali wezemidlalo wathi yena noMasha banenhlanhla nabazali babo: banomndeni onobungane, nakuba bonke behlangana ndawonye ngezimpelasonto. U-Adeline unobungane obuhle futhi obethembayo nomama wakhe. Futhi uyaqonda kahle ukuthi umama nobaba bakunzima kangakanani.

Yini engalungile nodadewabo ka-Adeline Sotnikova?

Njengoba wazi, udade omncane ka-Adeline Masha unesifo se-Tricher Collins (noma i-Treacher Collins syndrome) kusukela ebuntwaneni. Ngendlela, lesi sifo esingavamile sinenye igama, elizwakala sengathi "i-maxillofacial dysostosis." Lesi yisifo esiphezulu se-autosomal esibonakala ukukhubazeka kwe-craniofacial. Ngokokuqala ngqa kwachazwa ngo-1900 ngu-ophthalmologist waseNgilandi uClins Edward Tricher.

Izimpawu eziyinhloko

Ukuxilongwa kukadadewabo ka-Adeline uSotnikova Masha kwafunyanwa odokotela ngokushesha ngemva kokuzalwa kwakhe. Kumele kuqashelwe ukuthi ngenxa yesifo esibi kangaka esibonakala nge-deformation ephawulekayo ye-skull nobuso. Ngaphezu kwalokho, umuntu ogulayo angakwazi ukulahlekelwa ngokuphelele. Ngalesi sifo, isiguli ngokuvamile sinezinkinga zokuphila ezisongela ukuphila. Yingakho uMasha Sotnikova (udadewabo ka-Adeline Sotnikova), njengezinkulungwane zamanye iziguli, ahlale ehlonishwa odokotela.

Izigigaba zesifo

Kunezigaba eziningana zalesi sifo - ezivela ezibonisweni ezingabonakali ezifweni ezimbi kakhulu. Kumele kuqashelwe ukuthi ezigulini eziningi ezixilongwa ukuthi amathambo ebusweni akhule kahle. Lokhu kuholela eqinisweni lokuthi umuntu unobuso "obujengekile," ikhala elikhulu kakhulu, amahlombe amancane kanye ne-chincane. Ezinye iziguli zinomlomo wempisi.

Ngezinhlobo ezimbi kakhulu zesifo, i-micrognathia ikhipha ulimi lwezingane ukuze idale isithiyo e-oropharynx, ngenxa yalokho isiguli singase sibe nokungajwayelekile emoyeni, okuyingozi kakhulu ekuphileni. Ukuze kuvimbele umphumela obulalayo, i-epiglottis kufanele ikhishwe ngokuhlinzwa. Ukwazi ngalezi ziqhwaga, u-Adeline Sotnikova, kusukela ebuntwaneni bakhe, wenze konke ukuphumelela ekudwebeni i-skating futhi ehola imali eyanele, ngakho-ke kudingekile ukwelashwa kodadewabo. U-Adeline eminyakeni engama-4, wafika kuma-skates, futhi ngenxa yalokhu kushukumisa, ngemva kweminyaka engu-8-9, wenza izibalo eziyinkimbinkimbi kakhulu eqhweni.

Izimbangela zesifo

Ngasiphi isizathu uMasha Sotnikova ayegula ngalolukhuhlane? I-Syndrome ye-Tricer Collins yisifo esiyimvelo kuphela. Ngokuvamile, imbangela yalesi sifo esisongela ukuphila inguquko engathí sina (noma ukubonakala kwe-stop codon) kulesi sakhi se-TCOF1, okuholela ekwenzeni ngcono izinto ezitholakalayo. I-syndrome evezwe idlula ngokuzalwa ngokwemigomo ye-autosomal futhi ivele kuphela ku-1 kwabangu-50,000 abantwana abasanda kuzalwa. Lesi sifo senziwa esiteji sokuqala sokuthuthukiswa kwe-intrauterine fetus. Kuze kube manje, ubuhlobo obuphakathi kombuso wempilo kamama noma ubaba obonakalayo ngokuguquka okunjalo akudalulwe.

Kumele kuqashelwe ukuthi ukuxilongwa okunjalo kuvame ukufakwa esibhedlela sokubeletha. Phela, lesi sifo sinezibonakaliso ezicacile zomtholampilo (ikakhulukazi ezifweni ezinzima), okungukuthi: i-strabismus enamandla, ubukhulu obuncane bomlomo, izindlebe nezikhumba, kanye nama-colowbridi ne-nose ekhulisiwe. Ngendlela, yizibonakaliso zesifo esenza kube nzima kakhulu ukondla umntwana osanda kuzalwa, okubeka ukuphila kwakhe engozini.

Ukuqonda kanye namakhono omzimba

UDade Adeline Sotnikova Masha, njengabanye abagulayo abane-syndrome ye-Tricer Collins, uyangobuthakathaka ngokomzimba. Kodwa ngesikhathi esifanayo, ingqondo yakhe igcinwa ngokugcwele. Iziguli ezinjalo zidlula kuzo zonke izigaba zokukhula zihambisana nontanga yazo enempilo. Nakuba kufanele kuphawulwe ukuthi kwezinye izimo, ukulibala ekuthuthukiseni kwengqondo kungenzeka. Ngaphezu kwalokho, ngokuvamile ukuzwa ukukhubazeka kweziguli kubangela imiphumela emibi yokukhuluma. Futhi, izinguquko zangaphandle zingaba inkinga engokwenkolo engathí sina yamantombazane nabafana, okuyinto enzima ukulwa ngaphandle kosizo olukhethekile.

Ukwelashwa kwesifo

Ukwelashwa kwesifo se-Tricer Collins kuncike kwisilinganiso sesifo esivele sikhona. Njengomthetho, ukwelapha okunjalo kuhlanganisa izinqubo ezilandelayo:

• Ukubonisana nge-Genetic. Kungenziwa kumuntu noma kumndeni wonke (kuxhomeke ukuthi ngabe lesi sifo sifa noma cha).
• Ukugqoke izinsiza zokuzwa (uma kwenzeka isiguli siqala ukulahlekelwa ukulalelwa).
• Ukwelashwa kwamazinyo kanye ne-orthodontic. Kudingekile ukulungisa i-bite engalungile.
• Izikhathi zokwelapha izingxoxo nabachwepheshe, ezihloswe ekuthuthukiseni amakhono okuxhumana. Ngendlela, i-defectologists isebenza nalabo bantu abanezinkinga ngokugwinya iziphuzo noma ukudla.
• Izindlela zokuhlinza. Ukusebenza kusiza ukuthuthukisa ukubonakala komuntu, kanye nekhwalithi yokuphila kwakhe.