Ingabe ingane yakho encane inezinguquko zobuso ezinjengalezi? Ake sixoxe nge-Treacher Collins Syndrome!

Uyazi, ngezinye izikhathi izingane zethu ezincane ziza kuleli zwe zinezinguquko ezincane ebusweni bazo, ezindlebeni, namehlo lapho zizalwa. Kujwayelekile ngathi njengabazali ukuzizwa sesaba futhi sikhathazekile kakhulu uma sibona lokhu. Namuhla sizokhuluma ngesimo esingavamile, kodwa esibaluleke kakhulu okufanele sisiqaphele. Sibizwa ngokuthi i-Treacher Collins Syndrome . Leli gama lingase lizwakale lingavamile uma ulizwa, kodwa masiliqonde kalula.

Iyini i-Treacher Collins Syndrome?

Kalula nje, i-Treacher Collins syndrome iyisimo esingavamile kakhulu, esihambisana nofuzo. Ibangela izinguquko ngobukhulu, ukuma, kanye nesimo sezindlebe, amehlo, amathambo ezihlathi kanye nomhlathi wengane yakho. Lezi zinguquko zingenza kube nzima ngengane yakho ukuncelisa, ukuphefumula kalula, noma ukuzwa kahle. Ibizwa nangokuthi i-mandibulofacial dysostosis . Lelo gama liyadida kancane, akunjalo? Ngakho-ke ake sisebenzise i-Treacher Collins syndrome.

Izimpawu zengane yakho zalesi simo zingasukela kwezingabonakali kakhulu, ezingabonakali kalula, kuya kwezinzima kakhulu . Izingane eziningi ezine-Treacher Collins syndrome zihlinzwa ukuze kulungiswe izinkinga zobuso, njenge-cleft palate. Ezinye izingane zingadinga nokwelashwa kokulahlekelwa ukuzwa.

Kodwa ungakhathazeki . Ngokwelashwa okufanele kanye nokunakekelwa njalo kwezokwelapha, laba bantwana bangaphila impilo ephelele nenempilo . Into ebaluleke kakhulu ukukubona lokhu kusenesikhathi bese uqala ukwelashwa (ukungenelela kusenesikhathi) . Ngaphandle kwalokho, ingane ingase ibe nezinkinga ezizodinga ukunakekelwa kwezokwelapha impilo yonke.

Lesi simo sithinta cishe ingane eyodwa kwezingu-50,000 emhlabeni jikelele, okusho ukuthi asivamile kakhulu.

Ziyini izimpawu ze-Treacher Collins Syndrome?

Izingane ezine-Treacher Collins syndrome zinezimpawu eziningana ezihlukile zobuso. Lezi zifaka:

• Amajwabu amehlo abukeka sengathi abheke phansi: Kwenza amehlo abukeke edabukile kancane.
• Amathambo ezihlathi mancane futhi ayisicaba: Izihlathi azibukeki zivelele impela.
• Umhlathi omncane ongezansi: Odokotela babiza lokhu ngokuthi "i-micrognathia".
• Izindlebe ziba zincane noma zishintsha isimo: Ngezinye izikhathi indawo yezindlebe nayo ingashintsha.
• Isigaxa esincane esifana nesicucu esikhumbeni sejwabu: Lokhu kubizwa ngokuthi i-eyelid coloboma .

Ingane ingaba nesinye noma ngaphezulu salezi zici. Akuzona zonke lezi zici ezikhona ngendlela efanayo kuyo yonke ingane.

Kungani kwenzeka i-Treacher Collins Syndrome?

Ngokusho kwabacwaningi, isizathu esiyinhloko salokhuUkwehlukahluka kwezakhi zofuzo. Lesi simo senzeka ngenxa yezinguquko ezithile ezintweni ezincane ezibizwa ngokuthi izakhi zofuzo emzimbeni wethu.

• Ngezinye izikhathi, okungukuthi, cishe ingxenye yezingane , uma othile emndenini (umama, ubaba, noma isihlobo esiseduze) enalesi simo, ingane nayo ingasithola.
• Kodwa ngezinye izikhathi kungenzeka ngezikhathi ezithile, ngaphandle komlando womndeni . Okusho ukuthi, kungenzeka kungalindelekile.

Yiziphi izinkinga ezingaba khona ngenxa yalesi simo?

Izingane ezine-Treacher Collins syndrome zingase zibe nezinkinga ezifana nalezi:

• Ukulahlekelwa ukuzwa: Lokhu kungabangelwa ukuncipha noma ukungabikho kwemisele yezindlebe. Kungase kube nezinkinga ngamathambo amancane endlebeni ephakathi.
• Ubunzima bokuphefumula: Ukungakhuli kahle kwamathambo obuso, ikakhulukazi umhlathi nekhala, kungabangela ubunzima bokuphefumula. Lokhu kungaba nzima kwezinye izingane ezincane.
• Ulwanga oluqhekekile: Lokhu kungenza kube nzima ukuncelisa ingane, njengoba ubisi lungangena ekhaleni lapho luncela. Njengoba ingane ikhula, kungenza kube nzima ukukhuluma nokuphimisela amagama ngokucacile. Cabanga ukuthi umama uzizwa edabukile kangakanani lapho ingane encane inenkinga yokuncela nokuphuza ubisi.

Odokotela bakubona kanjani lokhu?

Odokotela bangase basole lokhu ngesikhathi sokuhlolwa okuvamile kwengane esanda kuzalwa esibhedlela. Uma bebona izici zobuso zengane yakho futhi besola i-Treacher Collins syndrome, bazokudlulisela kuchwepheshe wezakhi zofuzo . Bangenza ukuhlolwa okwengeziwe ukuqinisekisa isimo esiqondile.

Yiziphi izindlela zokwelapha i-Treacher Collins Syndrome?

Ukwelashwa kwalokhu kuyahlukahluka kuye ngengane . Ngenxa yokuthi akuzona zonke izimo zengane ezifanayo, akuwona wonke umuntu ozodinga ukwelashwa okufanayo.

Umgomo oyinhloko wokwelashwa kusukela esemncane ukuthuthukisa impilo yengane nokwenza imisebenzi yansuku zonke, njengokudla, ukuphuza, ukuphefumula, nokuzwa, kube lula .

• Kungase kudingeke ukuhlinzwa kusenesikhathi ukuze kube lula ukuphefumula. Kwezinye izimo ezimbi kakhulu, izingane zingase zidingeke nokuba zifakwe i-tracheostomy , ipayipi elifakwa entanyeni yazo ukuze lizisize ziphefumule.
• Ngaphezu kwalokho, izingane eziningi zidinga ukuhlinzwa okukodwa noma ngaphezulu okwakha kabusha ukuze kubuyiselwe isimo sobuso kanye nokusebenza.
• Uma ingane isikhulile kancane, ngokuvamile ineminyaka engaba yishumi nesishiyagalombili kuya kwengamashumi amabili ubudala, ingacabangela ukuhlinzwa kobuhle uma ifisa.

Yini eyenziwa ngokuhlinzwa kokuvuselela?

Lokhu kuhlinzwa kwenzelwe ukulungisa ukukhubazeka kwesakhiwo ebusweni bengane, ukunciphisa izimpawu, nokuthuthukisa impilo yengane. Kuye ngesimo sengane, ukuhlinzwa okulandelayo kungadingeka:

• Imihlathi: Uma imihlathi iqondile futhi amazinyo ebekwe kahle, izinkinga zokudla nokuphefumula zingancishiswa. Lokhu kungadinga uhlelo lokwelashwa olungahlala iminyaka.
• Umlomo: Ezinye izingane zizodinga ukuhlinzwa ukuze kulungiswe ulwanga oluqhekekile . Ezinye kungadingeka zikhishwe amazinyo azo uma zinamazinyo aminyene, noma kungadingeka zifakwe ama-braces (orthodontics) ukuze ziqondise amazinyo azo.
• Impumulo: Uma kunezicubu eziningi ngaphakathi kwemigodi yamakhala, okuphazamisa ukuphefumula, ukuhlinzwa kungavula indlela futhi kwenze ukuphefumula kube lula.
• Izindlebe: Kuye ngezimpawu zomntwana, kungafakwa amapayipi ezindlebe (lokhu kuvumela umoya ukuthi ungene endlebeni ephakathi futhi kuthuthukise ukuzwa), kungasetshenziswa izinsiza zokuzwa , noma kungenziwa ukuhlinzwa ukuze kwakhiwe kabusha izindlebe zangaphandle. Izinsiza zokuzwa zingaba usizo olukhulu, ikakhulukazi ezinganeni eziseminyakeni yesikole.
• Amehlo: Ezinye izingane zidinga ukuhlinzwa ukuze kulungiswe ukudabuka kwejwabu leso elingezansi (i-eyelid coloboma) . Lokhu kuvikela iso futhi kuthuthukisa ukubukeka.
• Amathambo Ezihlathi: Uma amathambo ezihlathi emancane futhi enza kube nzima ukudla noma ukuphefumula, ukuhlinzwa ukuze kulungiswe indawo kungasiza. Lokhu kungase kuhilele nokusetshenziswa kwezingxenyana zamathambo.

Ingabe lesi simo singavinjelwa?

Lokhu kubangelwa izinguquko zofuzo, ngakho-ke ngeshwa ayikho indlela yokukuvimbela . Kodwa-ke, uma othile emndenini wakho ene-Treacher Collins Syndrome, noma uma unalesi simo, kungumqondo omuhle ukuthola ukwelulekwa ngofuzo ngaphambi kokuba nomntwana. Ngemuva kwalokho, uma uhlela ukuba nomntwana, ungahlola ingozi yalokhu kulowo mntwana. Lokhu kwelulekwa kuzokusiza futhi ukuthi ulungiselele ngokwengqondo.

Ingabe i-Treacher Collins Syndrome ingelapheka ngokuphelele?

Lesi simo asikwazi ukwelapheka ngokuphelele . Ngoba kuyisimo sofuzo. Kodwa-ke, asikho isidingo sokukhathazeka , ngoba izinkinga ezivela ngenxa yalokhu, njengokushintsha kobuso, ubunzima bokuphefumula, kanye nokukhubazeka kokuzwa , zingalungiswa kakhulu ngokuhlinzwa kanye nezinye izindlela zokwelapha .

Ingakanani iminyaka yokuphila yalaba bantwana?

Lena yinkinga enkulu abazali abaningi abanayo. Izindaba ezinhle ukuthi uma ingane yabo ithola ukwelashwa okufanele ngesikhathi esifanele, ingaphila impilo evamile nenhle njengabo bonke abanye.Ukwelashwa kanye nokulandelela njalo kungalawula izimpawu futhi kuthuthukise ikhwalithi yokuphila. Kodwa-ke, njengoba kushiwo ngaphambili, uma kungelashwa, izingane zingaba nezinkinga ezidinga ukunakekelwa kwezokwelapha impilo yonke.

Kufanele ngiyinakekele kanjani ingane yami?

Kuvamile ukuzizwa ukhungathekile, wesaba, futhi ukhathazekile lapho uthola ukuthi ingane yakho ine-Treacher Collins Syndrome. Ungase ukhathazeke ngokuthi hlobo luni lokwelashwa oluzodingeka esikhathini esizayo nokuthi ingane yakho izobhekana kanjani nalesi simo.

Kodwa khumbula ukuthi awuwedwa. Udokotela wakho, abahlengikazi, kanye nabanye abasebenzi bezokwelapha bakhona ukukusiza nokukuqondisa. Bazokuqapha njalo wena nomntwana wakho, futhi bazokugcina unolwazi ngohlelo lokwelashwa nokuthi yini okufanele uyenze ngokulandelayo.

Into ebaluleke kakhulu okufanele uyikhumbule ukuthi i-Treacher Collins Syndrome ayithinti ukufunda kwengane, umsebenzi wayo, ukukhula kwayo iyonke, intuthuko yobuchopho bayo, noma ukuhlakanipha kwayo. Ukukhuthaza ingane yakho ukuthi idlale, izame izinto ezintsha zokuzilibazisa, ihlole indawo ezungezile, futhi ixhumane nezinye izingane kuzoyisiza ukuthi ikhule kahle futhi ibe nobudlelwano nabantu. Ungawadeleli amakhono ayo.

Yimiphi imibuzo okufanele ngiyibuze udokotela?

Kuvamile ukuba nemibuzo eminingi mayelana nempilo yengane yakho kanye nokubukeka kwayo. Uma uvakashela udokotela, ungabuza imibuzo efana nale:

• "Lesi sifo sizoyithinta kanjani ingane yami?"
• "Yiziphi izimo zezokwelapha ezingathi sína lokhu okungase kubangelwe yizo?"
• "Ingabe ingane yami izodinga ukuhlinzwa? Uma kunjalo, hlobo luni lokuhlinzwa futhi kufanele lwenziwe nini?"
• "Ingabe lesi simo sizothinta ukukhula kwengane yami okuvamile?"
• "Obani abanye ochwepheshe abangasisiza?" (isib., uchwepheshe wezindlebe, impumulo, nomphimbo, udokotela wamazinyo, umelaphi wenkulumo)

Ingabe lesi simo singatholakala ngaphambi kokuzalwa?

Yebo, ngezinye izikhathi kungenzeka. Odokotela baqapha ukukhula kombungu nge -ultrasound ejwayelekile ngesikhathi sokukhulelwa. Izici zobuso bengane yakho zingabonakala ku-ultrasound ekuqaleni kwenyanga yesibili , cishe ezinyangeni ezi-4-6 zokukhulelwa kwakho. Amacala amakhulu e-Treacher Collins Syndrome angatholakala ngezinye izikhathi kulezi ziskeni. Kodwa kungenzeka ukuthi akubonakali njalo kuskeni, ikakhulukazi uma kunezimpawu ezincane.

Ingabe abantu abane-Treacher Collins Syndrome bangaba nezingane?

Yebo, kungenzeka ngempela. Akukho nkinga ngomuntu one-Treacher Collins Syndrome ukuthi ashade futhi abe nabantwana ngendlela evamile. Kodwa-ke, uma unalesi simo, kunethuba elingama-50% (amashumi amahlanu nanhlanu) lokuthi ingane yakho izosidlulisela ngofuzo.Yebo. Lokho akusho ukuthi kuzokwenzeka kubo bonke abantwana, kodwa kungenzeka ukuthi kungenzeka. Ngakho-ke, njengoba kushiwo ngaphambili, kubalulekile ukuthola ukwelulekwa ngofuzo.

Ingabe lokhu kuzothinta ubuchopho bengane yami?

Cha. Abukho ubufakazi besayensi bokuthi i-Treacher Collins Syndrome ithinta ukukhula kobuchopho bengane noma ikhono layo lobuhlakani . Laba bantwana bangafunda futhi babonise amakhono njengabanye abantwana.

Kodwa-ke, njengoba kushiwo ngaphambili, ezinye izingane zingase zibe nokukhubazeka kokuzwa. Lokhu kukhubazeka kokuzwa kungabangela ukubambezeleka kokukhula , njengokulibaziseka kokukhuluma, ikakhulukazi lapho ziqala ukukhuluma. Kodwa-ke, ngisho nalokhu kungathuthukiswa kakhulu ngokwelashwa okufana nezinsiza zokuzwa kanye nokwelashwa kokukhuluma .

Okokugcina, izinto okufanele uzikhumbule...

Emehlweni ethu, bonke abantwana bethu bayigugu, baphelele. Sonke sifuna umhlaba ubabone ngaleyo ndlela. I-Treacher Collins Syndrome iyinselele ingane okufanele ibhekane nayo, kodwa ayinciphisi inani noma amakhono ayo.

Nakuba kungekho ikhambi le-Treacher Collins Syndrome, odokotela bangasiza ngezinto eziningi. Kukhona ukuhlinzwa (njengokulungiswa kabusha kwe-craniofacial) kanye nezinye izindlela zokwelapha ezingasiza ngobunzima bokuphefumula, ukulahlekelwa ukuzwa, kanye nokushintsha kobuso.

Into ebalulekile ukuthi, awuwedwa kulolu hambo . Kukhona odokotela abanomusa, abahlengikazi, kanye nabanye abasebenzi bezempilo abanolwazi lokwelapha izingane ezinjengalezi. Bazokusiza futhi bakuqondise wena nengane yakho kuzo zonke izinyathelo zendlela. Ngokwelashwa okufanele nokunakekelwa ngothando, lezi zingane nazo zingaphila impilo esebenzayo, ejabulisayo nenenjongo.

I- Treacher Collins Syndrome, ukukhubazeka kobuso, izifo zofuzo, ukukhubazeka kokuzwa, ubunzima bokuphefumula, ukuhlinzwa kokwakha kabusha