Uyalubona ushintsho ebusweni noma ezindlebeni zengane yakho? Ingabe kungaba yi-Goldenhar Syndrome?

Uma sibheka umntwana osanda kuzalwa, sizizwa sijabule futhi sithandwa kakhulu, akunjalo? Kodwa cabanga ngakho, ngezinye izikhathi, nakuba kungavamile, ezinye izingane ziza kuleli zwe zinomehluko omncane okhona kusukela ekuzalweni. Yileyo ndlela, ikakhulukazi ebusweni, ezindlebeni, emehlweni, noma emgogodleni, isimo esizokhuluma ngaso namuhla esibizwa ngokuthi i-Goldenhar Syndrome. Ungesabi uma uzwa leli gama, sizokhuluma ngakho konke ngendlela elula ongayiqonda.

Iyini i-Goldenhar Syndrome?

Kalula nje, i-Goldenhar Syndrome iyisimo esingavamile, esizalwa naso . "I-Congenital" isho ukuthi lesi simo sikhona lapho umuntu ezalwa. Sihlukaniswa njengesimo se-craniofacial. Lokhu kusho ukuthi sibangela ukukhubazeka ngesimo noma ukukhula kobuso noma ikhanda lengane yakho. Ikakhulukazi, i-Goldenhar Syndrome ingathinta umgogodla, izindlebe, namehlo engane yakho.

Ngokuvamile, abantu abane-Goldenhar Syndrome banamathambo nemisipha engakakhuli kahle kolunye uhlangothi lobuso (olubizwa nangokuthi i-hemifacial microsomia). Ngezinye izikhathi zombili izinhlangothi zingathinteka. Ezinye izingane nazo zinezindebe eziqhekekile noma i-cleft palate.

Iqanjwe ngokuthi iGoldenhar ukuhlonipha umcwaningi owathola lesi simo okokuqala ngo-1952, uMaurice Goldenhar. Elinye igama lezokwelapha laso yi-"oculo-auriculo-vertebral dysplasia." Leli gama lizwakala lide kancane, akunjalo? Ake silichaze, akunjalo?

• I-Oculo isho ukuhlobana namehlo.
• I-Auriculo isho ukuhlobana nendlebe.
• I-Vertebral ibhekisela emgogodleni.
• I-Dysplasia iwukukhula okungavamile kwengxenye yomzimba.

Manje usuyaqonda incazelo yaleli gama, akunjalo?

Sivame kangakanani lesi simo?

I-Goldenhar Syndrome empeleni iyisimo esingavamile kakhulu . Ochwepheshe bathi sithinta cishe eyodwa kwezingu-3,500 kuya ku-25,000 ezisanda kuzalwa. Kuthiwa futhi sivame kakhulu kubafana kunamantombazane.

Yiziphi izimbangela ze-Goldenhar Syndrome?

Umbuzo abantu abaningi abanawo uthi "Kungani lokhu kwenzeka?" Uma ngikhuluma iqiniso, ochwepheshe abakawutholi .Imbangela eqondile ye-Goldenhar Syndrome ayaziwa. Kukholakala ukuthi ibangelwa ushintsho lwe-chromosome, kodwa imbangela ayicaci ngaso sonke isikhathi. Emaphesentini amancane kakhulu, cishe u-1% - 2% wamacala, lesi simo singazuzwa njengefa kumzali oyedwa noma bobabili.

Ucwaningo oluthile lubonise ukuthi ingozi yokuba umntwana abe ne-Goldenhar Syndrome inganda kancane uma umama enezimo ezithile noma esebenzisa imithi ethile ngesikhathi sokukhulelwa. Isibonelo:

• Isifo sikashukela sokukhulelwa.
• Eminye imithi esetshenziselwa i-acne, ikakhulukazi leyo equkethe i-retinoic acid, njenge-isotretinoin (i-Accutane®).

Ngakho-ke, uma ukhulelwe, kubaluleke kakhulu ukulandela imiyalelo kadokotela wakho ngqo.

Ziyini izimpawu zalokhu?

Izimpawu ze-Goldenhar Syndrome zingahluka kumuntu nomuntu. Kodwa-ke, esinye sezimpawu ezivame kakhulu ukuthi uhlangothi olulodwa lobuso alukhuli kahle . Lokhu kubizwa nangokuthi 'i-hemifacial microsomia', njengoba sishilo ngaphambili. Lokhu kungabangela umhlathi, izihlathi, namehlo ohlangothini olulodwa lobuso ukuba kube kuncane futhi kungakhuli kahle kunolunye uhlangothi. Isibonelo, esinye isihlathi singase sibe sicaba kunesinye, noma isilevu singase sibe sincane kolunye uhlangothi.

Ezinye izici ezibonakalayo yilezi:

• Ukukhubazeka kwendlebe: Abanye abantu bangase babe nendlebe eyodwa encane ngendlela engavamile (ebizwa ngokuthi `i-microtia`). Abanye bangase babe nendlebe eyodwa engekho nhlobo (ebizwa ngokuthi `i-anotia`). Lokhu kungabangela ukulahlekelwa ukuzwa.
• Kuthinta izinhlangothi zombili zobuso: Cishe ingxenye eyodwa kwezintathu zezingane ezine-Goldenhar Syndrome zithola lokhu kukhula okukhungathekile kuzo zombili izinhlangothi zobuso.
• Izinkinga ngezinye izitho zomzimba: Izinkinga zingavela nasezinso, enhliziyweni, emaphashini, noma emathanjeni omgogodla (ama-vertebrae).
• Ukukhubazeka kwengqondo: Cishe abantu abangu-15% bangase babe nokukhubazeka kwengqondo okusesilinganisweni esithile. Lokhu kusho ubunzima bokufunda, ikhono lokuqonda elinciphile, njll.

Ngaphezu kwalokhu, ezinye izimpawu zingabonakala:

• Ukuba nomlomo oqhekekile noma ulwanga oluqhekekile.
• Ukukhubazeka kwenhliziyo okubangelwa ukuzalwa.
• Ngezinye izikhathi amaqhubu amancane (ama-dermoid cysts) angakheka esweni.
• Ukulahlekelwa ukuzwa.
• Ukuqongelela kwamanzi ngaphakathi kwekhanda (i-Hydrocephalus).
• Ukuphefumula okuvimbelayo kokulala.
• Ukulahlekelwa yijwabu leso noma ezinye izicubu esweni (i-coloboma) kanye nokulahlekelwa umbono okubangelwa yilo.
• I-Scoliosis.
• Ubunzima bokukhuluma.
• Amehlo aphambene (`Strabismus`).

Khumbula, akuwona wonke umuntu ozobhekana nazo zonke lezi zimpawu. Abanye abantu bangase babe nezimbalwa zazo, futhi ukuqina kwazo kungahluka.

Wazi kanjani ukuthi une-Goldenhar Syndrome?

Ngokuvamile, odokotela bangakwazi ukuthola i-Goldenhar Syndrome ngemva kokuzalwa komntwana ngokusekelwe ezimpawini zangaphandle, njengokushintsha kobuso nezindlebe.

Kodwa-ke, ukuze kuqinisekiswe kabanzi futhi kubonakale ukuthi kukhona yini ezinye izinkinga zangaphakathi, udokotela angenza ezinye izivivinyo ezimbalwa. Ezinye zalezi zifo zifaka:

• Ama-CT scan: Lokhu kungathola izinguquko ezakhiweni ezingaphakathi kwendlebe ezingase zibangele ukulahlekelwa ukuzwa.
• I-Echocardiogram (ukuhlolwa kwe-echo) noma i-electrocardiogram (EKG): Lezi zivivinyo zingahlola ukuthi inhliziyo isebenza kanjani. Njengoba sixoxile ngaphambili, izifo zenhliziyo zingavela ngezinye izikhathi.
• Ukuhlolwa kwamehlo: Lokhu kuhlolwa kwenziwa ukuze kuhlolwe ukukhubazeka ngaphakathi kweso.
• I-Ultrasound kanye ne-X-ray: Lokhu kungahlola izinguquko ekhanda, emgogodleni, emaphashini, noma ezinso.
• Ukuhlolwa kofuzo: Lokhu kuhlolwa kusiza ekuvimbeleni ezinye izimo zofuzo ezingase zibangele izimpawu ezifanayo.
• Izifundo zokulala: Lokhu kwenziwa ukuhlola i-obstructive sleep apnea.

Ingabe lokhu kungabonakala ngaphambi kokuba umntwana azalwe?

Lokhu akuvamile kakhulu. Kodwa-ke, ngezinye izikhathi, ngesikhathi sokuhlolwa kwe-ultrasound ngaphambi kokubeletha, odokotela bangase babone izinguquko emhlathini, ezindlebeni, noma emlonyeni wombungu. Uma lokhu kwenzeka, bangase bakunake kakhulu.

Yiziphi izindlela zokwelapha lokhu?

Ukwelashwa kwe-Goldenhar Syndrome kuyahlukahluka kuye ngezimpawu . Akuwona wonke umuntu ophathwa ngendlela efanayo. Ezinye izingane zingase zingadingi ukwelashwa okukhethekile uma izimpawu zazo zincane kakhulu. Kodwa-ke, ukwelashwa kuhlelwa ngosizo lochwepheshe abahlukahlukene, njengoba kudingeka.

Nazi ezinye izindlela zokwelapha:

• Usizo lokuncelisa: Ezinye izingane zingase zibe nobunzima bokuncela. Ezimweni ezinjalo, kungadingeka amabhodlela akhethekile noma ukuncelisa nge-nasogastric (NG).
• Ukuthuthukisa umbono: Ungasebenzisa izibuko noma uhlinzwe ukuze uthuthukise umbono wakho.
• Izinsiza zokuzwa: Ukuzwa kungathuthukiswa ngokusebenzisa izinsiza zokuzwa noma izifakelo zokuzwa ezinamathele emathanjeni.
• Ukwelashwa ngenkulumo:Lokhu kubaluleke kakhulu ekuthuthukiseni amakhono olimi nokuxhumana.
• Ukuhlinzwa: Ukuhlinzwa kungenziwa ukuze kulungiswe isifo senhliziyo, izindebe eziqhekekile noma ulwanga, i-sleep apnea, izindlebe ezincane (i-microtia), noma ukukhubazeka komgogodla.

Konke lokhu kwenzelwa ukuthuthukisa ikhwalithi yempilo yengane ngangokunokwenzeka. Ngakho-ke, kubaluleke kakhulu ukulandela iseluleko esinikezwa udokotela.

Ingabe izinguquko zobuso zingalungiswa?

Yebo, lokhu kuyinkinga kubazali abaningi. Ukuhlinzwa kobuhle kungenziwa ukuze kwenziwe izici zobuso zibe zilingana kakhulu. Izingane eziningi ezine-Goldenhar Syndrome zihlinzwa ukushintsha ukubukeka komhlathi wazo, amathambo ezihlathi, izindlebe, noma ibunzi. Lokhu kuvame ukwenziwa lapho ingane isikhulile kancane, eminyakeni efanele.

Ingabe i-Goldenhar Syndrome ingavinjelwa?

Njengoba sesixoxile ngaphambili, ayikho indlela eqinisekile yokuvimbela lesi simo ngoba imbangela eqondile ayaziwa . Kodwa-ke, kubalulekile ukulandela zonke izeluleko zikadokotela wakho ngesikhathi sokukhulelwa. Ikakhulukazi, ungasebenzisi imithi equkethe i-retinoic acid (njengeminye imithi yezinduna) ngaphandle kweseluleko sikadokotela wakho. Kubalulekile futhi ukudla ukudla okunempilo.

Uma othile emndenini wakho eke waba ne-Goldenhar Syndrome, kuwumqondo omuhle ukuthola ukwelulekwa ngofuzo. Uma uhlela ukuba nomntwana, ungaqonda ingozi yokuthi lowo mntwana athole lesi simo.

Impilo izoba njani ngalesi simo?

Lokhu kungase kuzwakale kusabisa kancane kuwe. Kodwa-ke, yize ikusasa labantu abaphila ne-Goldenhar Syndrome lihluka, iningi labantu liba nomphumela omuhle . Ngokwelashwa okufanele, izingane ezinalesi simo ngokuvamile zingaphila impilo evamile. Ziyakwazi ukufunda, ukudlala, nokuhlanganyela emphakathini.

Yiziphi izinto ofuna ukuzibuza udokotela?

Uma uthola ukuthi ingane yakho inalesi simo, ungase ube nemibuzo eminingi. Ngaleso sikhathi, ungesabi ukubuza udokotela wakho lezi zinto:

• "Dokotela/Nkosazana, yiziphi izimpawu eziyinhloko ze-Goldenhar Syndrome?"
• "Yiziphi izivivinyo okudingeka ngizenze ukuqinisekisa ukuthi ingane yami inalokhu?"
• "Yiziphi izindlela zokwelapha lokhu? Yini engcono kakhulu kumntanami?"
• "Yiziphi ezinye izindawo ezithembekile zokufunda kabanzi ngalesi simo?"
• "Ingabe zikhona izinhlangano noma amaqembu abazali abasiza izingane nemindeni ngalesi simo?"

Ukubuza le mibuzo kuzokusiza ukuthi uqonde kangcono isimo futhi unikeze ingane yakho okungcono kakhulu.

Ingabe i-Goldenhar Syndrome iwukukhubazeka?

Yebo, ngezinye izikhathi lokhuUkukhubazeka kungabhekwa njengokukhubazeka. Isibonelo, uma kukhona ukukhubazeka kokuzwa noma ukubona, kungaba ukukhubazeka. Ngokufanayo, uma kukhona ukukhubazeka kwengqondo, lowo muntu angadinga ukwesekwa okwengeziwe ukuze enze umsebenzi wansuku zonke nokufunda. Ngakho-ke, kungumthwalo wethu njengomphakathi ukubanikeza izinsiza kanye nokusekelwa okudingekayo.

Yiziphi ezinye izimo ezinezimpawu ezifanayo?

Kunezinye izimo eziningana ezinezimpawu ezifana neze-Goldenhar Syndrome. Ngakho-ke, kubaluleke kakhulu ukuthola ukuxilongwa okunembile. Ezinye zalezi zimo yilezi:

• I-Branchio-oto-renal syndrome `(i-Branchioootorenal (BOR) syndrome)`
• Inhlangano ye-CHARGE
• Isifo se-Townes-Brocks
• Isifo sikaTreacher Collins
• Inhlangano ye-VACTERL

Nakuba lokhu kungase kuzwakale kuyinkimbinkimbi kancane, odokotela bayakucabangela konke lokhu lapho behlola izifo.

Lokho okudingeka sikukhumbule kulokho esikhulume ngakho!

I-Goldenhar Syndrome yisimo esingavamile esiba khona lapho kuzalwa. Sithinta kakhulu ukuma kobuso bomntwana, ikhanda, futhi ngezinye izikhathi izitho zangaphakathi. Odokotela bangalungisa ezinye izinkinga zobuso noma zomgogodla ngesikhathi sobuntwana ngokuhlinzwa.

Into ebalulekile ukuthi ezinye izingane zingase zingadingi ukwelashwa okukhethekile uma izimpawu zazo zincane. Futhi, ezimweni eziningi, abantu abane-Goldenhar Syndrome baphila impilo ejabulisayo neyanelisayo ngokwelashwa nokusekelwa okudingekayo.

Uma ucabanga ukuthi ingane yakho inanoma yiziphi zalezi zimpawu, ungesabi, kodwa bonana nodokotela ngokushesha ukuze uthole iseluleko. Ukuxilongwa kusenesikhathi kanye nokwelashwa okufanele kunganikeza ingane yakho ikusasa elingcono.

I- Goldenhar syndrome, isimo sokuzalwa, ukukhubazeka kokuzalwa, i-craniofacial, i-hemifacial microsomia, i-oculo-auriculo-vertebral dysplasia, impilo yengane