Ingaba umntwana wakho omncinci unezi nguqu zobuso ezifana nezi? Masithethe ngeTreacher Collins Syndrome!

Uyazi, ngamanye amaxesha abantwana bethu abancinci bafika kweli hlabathi benotshintsho oluncinci ebusweni, ezindlebeni, nasemehlweni xa bezalwa. Kuqhelekile ngathi njengabazali ukuba sizive sisoyika kwaye sikhathazekile xa sibona oku. Namhlanje siza kuthetha ngemeko engaqhelekanga, kodwa ebaluleke kakhulu ekufuneka siyiqaphele. Ibizwa ngokuba yiTreacher Collins Syndrome . Eli gama lisenokuvakala lingaqhelekanga xa usiva, kodwa masiliqonde ngokulula.

Yintoni iTreacher Collins Syndrome?

Ngamafutshane, isifo iTreacher Collins sisifo esingaqhelekanga kakhulu, esibangelwa yimfuza. Sibangela utshintsho kubungakanani, imo, kunye nendawo yeendlebe zomntwana wakho, amehlo, amathambo ezihlathi, kunye nomhlathi. Olu tshintsho lunokwenza kube nzima kumntwana wakho ukuncancisa, ukuphefumla lula, okanye ukuva ngokucacileyo. Sikwabizwa ngokuba yi -mandibulofacial dysostosis . Elo gama liyadida kancinci, akunjalo? Ngoko masisebenzise isifo iTreacher Collins.

Iimpawu zomntwana wakho zesi sifo zingaqala kwezingabonakaliyo, ezingabonakaliyo, ukuya kwezinzima kakhulu . Abantwana abaninzi abane-Treacher Collins syndrome baye batyandwe ukuze kulungiswe iingxaki zobuso, ezifana ne-cleft palate. Abanye abantwana banokufuna unyango lokulahlekelwa kukuva.

Kodwa ungakhathazeki . Ngonyango olufanelekileyo kunye nonyango oluqhelekileyo, aba bantwana banokuphila ubomi obupheleleyo nobunempilo . Eyona nto ibalulekileyo kukuyibona oku kwangethuba kwaye uqale unyango (ukungenelela kwangoko) . Ngaphandle koko, umntwana unokufumana iingxaki eziya kufuna unyango ubomi bakhe bonke.

Le meko ichaphazela malunga nomnye kubantwana abangama-50,000 kwihlabathi liphela, nto leyo ethetha ukuba ayiqhelekanga kakhulu.

Zithini iimpawu zeTreacher Collins Syndrome?

Abantwana abane-Treacher Collins syndrome baneempawu ezahlukeneyo zobuso. Ezi ziquka:

• Iinkophe zibonakala ngathi zithambekele ezantsi: Ziyenza ibonakale ilusizi kancinci.
• Amathambo ezihlathi mancinci kwaye asicaba: Izihlathi azibonakali zibonakala kakuhle.
• Umhlathi omncinci ongezantsi: Oogqirha bakwabiza oku ngokuthi "yi-micrognathia".
• Iindlebe ziba ncinci okanye zitshintsha imo: Ngamanye amaxesha indawo ezikuyo iindlebe inokutshintsha.
• Iqhuma elincinci elifana nelinqunyiweyo kwi-eyelid: Oku kubizwa ngokuba yi-eyelid coloboma .

Umntwana unokuba nenye okanye ngaphezulu kwezi mpawu. Ayizizo zonke ezi mpawu ezikhoyo ngendlela efanayo kumntwana ngamnye.

Kutheni kukho iTreacher Collins Syndrome?

Ngokutsho kwabaphandi, esona sizathu siphambili soku kukubaUkwahluka kwezakhi zofuzo. Le meko yenzeka ngenxa yotshintsho oluthile kwizinto ezincinci ezibizwa ngokuba ziizakhi zofuzo emizimbeni yethu.

• Ngamanye amaxesha, oko kukuthi, malunga nesiqingatha sabantwana , ukuba umntu kusapho (umama, utata, okanye isalamane esisondeleyo) unale meko, nomntwana unokufumana le meko.
• Kodwa ngamanye amaxesha ingenzeka ngamaxesha athile, ngaphandle kwembali yosapho . Oko kukuthi, ingenzeka ngequbuliso.

Ziziphi iingxaki ezinokwenzeka ngenxa yale meko?

Abantwana abane-Treacher Collins syndrome banokuba neengxaki ezifana nezi:

• Ukulahlekelwa kukuva: Oku kunokubangelwa kukuncitshiswa okanye ukungabikho kwemijelo yendlebe. Kusenokubakho neengxaki ngamathambo amancinci kwindlebe ephakathi.
• Ubunzima bokuphefumla: Ukukhula okungaphelelanga kwamathambo obuso, ingakumbi umhlathi nempumlo, kunokubangela ubunzima bokuphefumla. Oku kunokuba nzima kwabanye abantwana abancinci.
• Intlama eqhekekileyo: Oku kunokwenza kube nzima ukuncancisa xa uselusana, njengoko ubisi lunokungena empumlweni xa luncanca. Njengoko usana lukhula, lunokwenza kube nzima ukuthetha nokubiza amagama ngokucacileyo. Khawuthelekelele indlela umama aziva ebuhlungu ngayo xa usana oluncinci lunengxaki yokuncanca nokusela ubisi.

Oogqirha bayibona njani le nto?

Oogqirha banokukukrokrela oku ngexesha lokuhlolwa rhoqo kosana olusandul’ ukuzalwa esibhedlele. Ukuba babona iimpawu zobuso bomntwana wakho kwaye bakrokrela isifo sikaTreacher Collins, baya kukuthumela kwingcali yemfuza . Bangenza uvavanyo olongezelelweyo ukuqinisekisa imeko echanekileyo.

Ziziphi iindlela zonyango lweTreacher Collins Syndrome?

Unyango loku luyahluka kumntwana ngamnye . Ngenxa yokuba ayingomntwana ngamnye okwimeko efanayo, ayingomntu wonke oza kufuna unyango olufanayo.

Injongo ephambili yonyango kwasebuntwaneni kukuphucula impilo yomntwana nokwenza imisebenzi yemihla ngemihla, efana nokutya, ukusela, ukuphefumla, nokuva, kube lula .

• Utyando lwasekuqaleni lunokufuneka ukuze kube lula ukuphefumla. Kwezinye iimeko ezinzima, abantwana banokude bafune i-tracheostomy , ityhubhu efakwe entanyeni yabo ukuze ibancede baphefumle.
• Ukongeza, abantwana abaninzi badinga utyando olunye okanye ngaphezulu lokwakha ukuze kubuyiselwe imo yobuso kunye nokusebenza kwayo.
• Xa umntwana ekhulile kancinci, ngokuqhelekileyo eneminyaka elishumi elinesibhozo ukuya kwengamashumi amabini ubudala, angacinga ngotyando lobuhle ukuba uyafuna.

Yintoni eyenziwa ngotyando lokulungisa izinto (Reconstructive Surgery)?

Olu tyando lwenzelwe ukulungisa iingxaki zokwakheka kobuso bomntwana, ukunciphisa iimpawu, nokuphucula impilo yomntwana. Ngokuxhomekeke kwimeko yomntwana, olu tyando lulandelayo lunokufuneka:

• Imihlathi: Xa imihlathi ilungelelaniswe kakuhle kwaye amazinyo ebekwe ngendlela efanelekileyo, iingxaki zokutya nokuphefumla zinokuncitshiswa. Oku kunokufuna isicwangciso sonyango esinokuhlala iminyaka.
• Umlomo: Abanye abantwana ngokuqinisekileyo baya kufuna utyando lokulungisa i-cleft palate . Abanye banokufuna ukukhutshwa kwamazinyo abo ukuba banamazinyo axineneyo, okanye banokufuna ii-braces (orthodontics) ukuze boluleke amazinyo abo.
• Impumlo: Ukuba kukho izicubu ezingaphezulu ngaphakathi kwimingxunya yempumlo, nto leyo ephazamisa ukuphefumla, utyando lunokuvula indlela yokungena kwaye lwenze ukuphefumla kube lula.
• Iindlebe: Ngokuxhomekeke kwiimpawu zomntwana, iityhubhu zendlebe zinokufakwa (oku kuvumela umoya ukuba ungene kwindlebe ephakathi kwaye kuphucule ukuva), izixhobo zokuncedisa ukuva zingasetyenziswa, okanye utyando lunokwenziwa ukwakha kwakhona iindlebe zangaphandle. Izixhobo zokuncedisa ukuva zinokuba luncedo olukhulu, ingakumbi kubantwana abakwiminyaka yokufunda esikolweni.
• Amehlo: Abanye abantwana badinga utyando ukuze kulungiswe ukukrazuka kwiliso elisezantsi (i-eyelid coloboma) . Oku kukhusela iliso kwaye kuphucula inkangeleko.
• Amathambo eempundu: Ukuba amathambo eempundu mancinci kwaye enza kube nzima ukutya okanye ukuphefumla, utyando lokutshintsha indawo lunokunceda. Oku kunokubandakanya nokusetyenziswa kwee-grafts zamathambo.

Ngaba le meko ingathintelwa?

Oku kubangelwa lutshintsho lwemfuza, ngoko ke ngelishwa akukho ndlela yokukuthintela . Nangona kunjalo, ukuba kukho umntu kusapho lwakho oneTreacher Collins Syndrome, okanye ukuba unale meko, kungcono ukufumana ingcebiso yemfuza ngaphambi kokuba ube nomntwana. Emva koko, ukuba uceba ukuba nomntwana, unokuvavanya umngcipheko woku kumntwana lowo. Olu cebiso luya kukunceda ulungiselele ngengqondo.

Ngaba isifo sikaTreacher Collins singanyangeka ngokupheleleyo?

Le meko ayinakunyangwa ngokupheleleyo . Kuba yimeko yemfuza. Nangona kunjalo, akukho mfuneko yokukhathazeka , kuba iingxaki ezivelayo ngenxa yoku, ezinje ngokutshintsha kobuso, ubunzima bokuphefumla, kunye nokuphazamiseka kokuva , zinokulungiswa kakhulu ngotyando kunye nolunye unyango .

Ingakanani ixesha lokuphila laba bantwana?

Le yeyona ngxaki inkulu abazali abaninzi abanayo. Iindaba ezimnandi zezokuba ukuba umntwana wabo ufumana unyango olufanelekileyo ngexesha elifanelekileyo, angaphila ubomi obuqhelekileyo nobulungileyo njengaye wonke umntu.Unyango kunye nokulandelela rhoqo kunokulawula iimpawu kwaye kuphucule umgangatho wobomi. Nangona kunjalo, njengoko bekutshiwo ngaphambili, ukuba anganyangwa, abantwana banokuba neengxaki ezifuna unyango lobomi bonke.

Ndingamnyamekela njani umntwana wam?

Kuqhelekile ukuziva uxinezelekile, usoyika, kwaye ukhathazekile xa ufumanisa ukuba umntwana wakho uneTreacher Collins Syndrome. Usenokuba ukhathazekile malunga nokuba loluphi uhlobo lonyango oluya kufuneka kwixesha elizayo kunye nendlela umntwana wakho aza kujongana ngayo nalo mbandela.

Kodwa khumbula ukuba awuwedwa. Ugqirha wakho, abahlengikazi, kunye nabanye abasebenzi bezonyango bakhona ukukunceda nokukukhokela. Baza kuhlala bekujonga wena nomntwana wakho, kwaye baza kukugcina unolwazi malunga nesicwangciso sonyango kunye nento omawuyenze ngokulandelayo.

Eyona nto ibalulekileyo ekufuneka uyikhumbule kukuba iTreacher Collins Syndrome ayichaphazeli ukufunda komntwana, umsebenzi wakhe, ukukhula kwakhe ngokubanzi, uphuhliso lobuchopho bakhe, okanye ubukrelekrele bakhe. Ukukhuthaza umntwana wakho ukuba adlale, azame izinto ezintsha azithandayo, ahlole indawo abakuyo, kwaye anxulumane nabanye abantwana kuya kumnceda akhule kakuhle aze abe nobudlelwane nabantu ngakumbi. Musa ukujongela phantsi izakhono zakhe.

Ndingayibuza yiphi imibuzo ugqirha?

Kuqhelekile ukuba nemibuzo emininzi malunga nempilo yomntwana wakho kunye nenkangeleko yakhe. Xa undwendwela ugqirha, ungabuza imibuzo efana nale:

• "Le sifo iza kumchaphazela njani umntwana wam?"
• "Zeziphi iimeko zempilo ezinzulu ezinokubangela oku?"
• "Ngaba umntwana wam uza kufuna utyando? Ukuba kunjalo, loluphi uhlobo lotyando kwaye kufuneka lwenziwe nini?"
• "Ngaba le meko iza kuchaphazela ukukhula okuqhelekileyo komntwana wam?"
• "Ngoobani abanye oochwephesha abangasinceda?" (umz., ingcali yendlebe, impumlo, nomqala, ugqirha wamazinyo, ingcali yokuthetha)

Ngaba le meko ingafunyanwa ngaphambi kokuba umntwana azalwe?

Ewe, ngamanye amaxesha kunokwenzeka. Oogqirha bajonga uphuhliso lomntwana ongekazalwa nge -ultrasound eqhelekileyo ngexesha lokukhulelwa. Iimpawu zobuso bomntwana wakho zinokubonwa kwi-ultrasound kwasekuqaleni kwekota yesibini , malunga neenyanga ezi-4-6 zokukhulelwa kwakho. Amatyala aqatha e-Treacher Collins Syndrome ngamanye amaxesha anokufunyanwa kwezi scan. Kodwa isenokungabonwa rhoqo kwi-scan, ingakumbi xa kukho iimpawu ezincinci.

Ngaba abantu abane-Treacher Collins Syndrome bangaba nabantwana?

Ewe, ngokuqinisekileyo kunokwenzeka. Akukho ngxaki kumntu one-Treacher Collins Syndrome ukuba atshate aze abe nabantwana ngokuqhelekileyo. Nangona kunjalo, ukuba unale meko, kukho amathuba angama-50% (amashumi amahlanu anamashumi amahlanu) okuba umntwana wakho ayidlulisele kwi-genes.Ewe. Oko akuthethi ukuba kuya kwenzeka kubo bonke abantwana, kodwa kukho ithuba lokuba oku kunokwenzeka. Ke ngoko, njengoko bekutshiwo ngaphambili, kubalulekile ukufumana iingcebiso ngemfuza.

Ngaba oku kuya kuyichaphazela ingqondo yomntwana wam?

Hayi. Akukho bungqina besayensi bokuba iTreacher Collins Syndrome ichaphazela uphuhliso lwengqondo yomntwana okanye amandla akhe okuqonda . Aba bantwana banokufunda baze babonise izakhono njengabanye abantwana.

Nangona kunjalo, njengoko bekutshiwo ngaphambili, abanye abantwana banokuba neengxaki zokuva. Oku kuphazamiseka kokuva kunokubangela ukulibaziseka kokukhula , njengokulibaziseka kokuthetha, ingakumbi xa beqala ukuthetha. Nangona kunjalo, nezi zinokuphucuka kakhulu ngonyango olufana nezixhobo zokuva kunye nonyango lokuthetha .

Okokugqibela, izinto ekufuneka uzikhumbule...

Emehlweni ethu, bonke abantwana bethu baxabisekile, bagqibelele. Sonke sifuna ihlabathi libabone ngaloo ndlela. I-Treacher Collins Syndrome ngumceli mngeni umntwana afanele ajongane nawo, kodwa ayinciphisi ixabiso okanye amandla akhe.

Nangona kungekho nyango lweTreacher Collins Syndrome, oogqirha banokunceda ngezinto ezininzi. Kukho utyando (njengokulungiswa kwentloko) kunye nezinye iindlela zonyango zokunceda ubunzima bokuphefumla, ukulahlekelwa kukuva, kunye notshintsho oluthile lobuso.

Into ebalulekileyo kukuba, awuwedwa kolu hambo . Kukho oogqirha abanobubele, abahlengikazi, kunye nabanye abasebenzi bezempilo abanamava okuphatha abantwana abanjengaba. Baza kukunceda kwaye bakuqondise wena nomntwana wakho inyathelo ngalinye. Ngonyango olufanelekileyo kunye nokhathalelo lothando, aba bantwana nabo banokuphila ubomi obusebenzayo, obonwabisayo nobunentsingiselo.

Isifo sikaTreacher Collins, ukukhubazeka kobuso, izifo zemfuza, ukungasebenzi kakuhle kokuva, ubunzima bokuphefumla, utyando lokwakha ngokutsha