Ngaba kukho utshintsho olubonayo ebusweni okanye ezindlebeni zomntwana wakho? Ngaba yiGoldenhar Syndrome?

Xa sijonga usana olusandul’ ukuzalwa, siziva sonwabile kwaye sithandwa kakhulu, akunjalo? Kodwa cinga ngako, ngamanye amaxesha, nangona kunqabile kakhulu, ezinye iintsana ziza kweli hlabathi zineempawu ezincinci ezikhoyo ukususela ekuzalweni. Yiyo loo nto, ikakhulu ebusweni, ezindlebeni, emehlweni, okanye emgogodleni, imeko esiza kuthetha ngayo namhlanje ibizwa ngokuba yiGoldenhar Syndrome. Musa ukoyika xa usiva eli gama, siza kuthetha ngayo yonke into ngendlela elula onokuyiqonda.

Yintoni iGoldenhar Syndrome?

Ngamafutshane, iGoldenhar Syndrome yimeko engaqhelekanga, ezalwa nayo . "I-Congenital" ithetha ukuba le meko ikhona xa umntu ezalwa. Ihlelwa njengemeko yentloko. Oku kuthetha ukuba ibangela iingxaki kwimilo okanye ekuphuhlisweni kobuso okanye kwentloko yomntwana wakho. Ngokukodwa, iGoldenhar Syndrome inokuchaphazela umqolo, iindlebe kunye namehlo omntwana wakho.

Amaxesha amaninzi, abantu abane-Goldenhar Syndrome abanamathambo nezihlunu ezingakhulanga kakuhle kwelinye icala lobuso (elikwabizwa ngokuba yi-hemifacial microsomia). Ngamanye amaxesha omabini amacala anokuchaphazeleka. Abanye abantwana bakwanayo nemilebe eqhekekileyo okanye i-cleft palate.

Ibizwa ngokuba yiGoldenhar ngenxa yomphandi owafumanisa esi sifo okokuqala ngo-1952, uMaurice Goldenhar. Elinye igama lezonyango laso yi-"oculo-auriculo-vertebral dysplasia." Eli gama livakala lide kancinci, akunjalo? Masiyihlalutye, akunjalo?

• U-Oculo uthetha ukunxulumana namehlo.
• Igama elithi Auriculo lithetha ukunxulumana nendlebe.
• I-Vertebral ibhekisa kumqolo.
• I-Dysplasia kukukhula okungaqhelekanga kwenxalenye yomzimba.

Ngoku uyaqonda intsingiselo yale gama, akunjalo?

Ixhaphake kangakanani le meko?

I-Goldenhar Syndrome yimeko engaqhelekanga kakhulu . Iingcali zithi ichaphazela malunga nenye kwiintsana ezisandul’ ukuzalwa ezingama-3,500 ukuya kuma-25,000. Kuthiwa ixhaphake kancinci kubafana kunamantombazana.

Zithini izizathu zeGoldenhar Syndrome?

Umbuzo abantu abaninzi abanawo ngowokuba "Kutheni oku kusenzeka?" Inyaniso kukuba, iingcali azikayifumani loo nto .Isizathu esichanekileyo seGoldenhar Syndrome asikaziwa. Kukholelwa ukuba sibangelwa kukutshintsha kwechromosome, kodwa isizathu asisoloko sicacile. Kwipesenti encinci kakhulu, malunga ne-1% - 2% yamatyala, le meko inokufunyanwa kumzali omnye okanye bobabini.

Olunye uphando lubonise ukuba umngcipheko wokuba umntwana abe neGoldenhar Syndrome unokwanda kancinci ukuba umama uneemeko ezithile okanye usebenzisa amayeza athile ngexesha lokukhulelwa. Umzekelo:

• Isifo seswekile sokukhulelwa.
• Amanye amayeza asetyenziselwa i-acne, ingakumbi lawo aqulethe i-retinoic acid, njenge-isotretinoin (Accutane®).

Ngoko ke, ukuba ukhulelwe, kubaluleke kakhulu ukulandela imiyalelo kagqirha wakho ngokuchanekileyo.

Zithini iimpawu zoku?

Iimpawu zeGoldenhar Syndrome zingahluka kumntu nomntu. Nangona kunjalo, enye yezona mpawu zixhaphakileyo kukuba elinye icala lobuso alikhuli kakuhle . Oku kukwabizwa ngokuba yi-'hemifacial microsomia', njengoko besitshilo ngaphambili. Oku kunokubangela ukuba umhlathi, izidlele, namehlo kwelinye icala lobuso abe mancinci kwaye angakhuli kangako kunelinye icala. Umzekelo, esinye isidlele sinokuba thambileyo kunesinye, okanye isilevu sinokuba mncinci kwelinye icala.

Ezinye iimpawu ezibonakalayo zezi:

• Ukungaqheleki kweendlebe: Abanye abantu banokuba nendlebe enye encinci ngokungaqhelekanga (ebizwa ngokuba yi-'microtia'). Abanye banokuba nendlebe enye engekhoyo ngokupheleleyo (ebizwa ngokuba yi-'anotia'). Oku kunokubangela ukulahleka kokuva.
• Ichaphazela amacala omabini obuso: Malunga nesinye kwisithathu sabantwana abaneGoldenhar Syndrome bafumana olu hlobo lokukhula oludodobalayo kumacala omabini obuso.
• Iingxaki ngamanye amalungu omzimba: Iingxaki zinokubakho nakwizintso, intliziyo, imiphunga, okanye amathambo omqolo (i-vertebrae).
• Ukukhubazeka kwengqondo: Malunga ne-15% yabantu banokuba nokukhubazeka kwengqondo kwinqanaba elithile. Oku kuthetha ubunzima bokufunda, ukungakwazi ukuqonda okuncinci, njl.

Ukongeza koku, ezinye iimpawu zingabonakala:

• Ukuba nomlomo oqhekekileyo okanye incasa eqhekekileyo.
• Iziphene zentliziyo ezizalwa nazo.
• Ngamanye amaxesha amaqhuma amancinci (i-dermoid cysts) anokwenzakala esweni.
• Ukulahlekelwa kukuva.
• Ukuqokelelwa kwamanzi ngaphakathi kwentloko (iHydrocephalus).
• Ukuphazamiseka kokulala.
• Ukulahlekelwa liliso okanye ezinye izicwili emehlweni (i-coloboma) kunye nokulahlekelwa kukubona okubangelwa kukubona.
• I-Scoliosis.
• Ubunzima bokuthetha.
• Amehlo anqamlezileyo (`Strabismus`).

Khumbula, ayinguye wonke umntu oza kuba nazo zonke ezi mpawu. Abanye abantu banokuba nazo ezimbalwa kuphela, kwaye ubunzulu bazo bungahluka.

Uyazi njani ukuba une-Goldenhar Syndrome?

Amaxesha amaninzi, oogqirha banokuxilonga iGoldenhar Syndrome emva kokuba umntwana ezelwe ngokusekelwe kwiimpawu zangaphandle, ezifana notshintsho ebusweni nasezindlebeni.

Nangona kunjalo, ukuqinisekisa ngakumbi nokubona ukuba kukho ezinye iingxaki zangaphakathi, ugqirha angenza ezinye iimvavanyo. Ezinye zezi ziquka:

• Ii-CT scans: Ezi zinokubona utshintsho kwizakhiwo ezingaphakathi kwendlebe olunokubangela ukulahlekelwa kukuva.
• I-Echocardiogram (uvavanyo lwe-echo) okanye i-electrocardiogram (EKG): Olu vavanyo lunokujonga indlela intliziyo esebenza ngayo. Njengoko besitshilo ngaphambili, isifo sentliziyo ngamanye amaxesha sinokubakho.
• Uvavanyo lwamehlo: Olu vavanyo lwenziwa ukujonga iingxaki ngaphakathi kweliso.
• I-Ultrasound kunye ne-X-ray: Ezi zinokujonga utshintsho kwi-skull, umqolo, imiphunga, okanye izintso.
• Uvavanyo lwemfuza: Olu vavanyo lunceda ekuthinteleni ezinye iimeko zemfuza ezinokubangela iimpawu ezifanayo.
• Izifundo zokulala: Ezi zenzelwe ukujonga ukuba akukho ngxaki yokuphefumla xa umntu elele.

Ngaba oku kungachongwa ngaphambi kokuba umntwana azalwe?

Oku kunqabile kakhulu. Nangona kunjalo, ngamanye amaxesha, ngexesha le-prenatal ultrasound scans, oogqirha banokubona utshintsho emhlathini, ezindlebeni, okanye emlonyeni womntwana ongekazalwa. Ukuba oku kuyenzeka, banokunikela ingqalelo engakumbi kuko.

Zithini iindlela zonyango zoku?

Unyango lweGoldenhar Syndrome luyahluka ngokuxhomekeke kwiimpawu . Ayingabo bonke abantu abaphathwa ngendlela efanayo. Abanye abantwana basenokungadingi naluphi na unyango olukhethekileyo ukuba iimpawu zabo zincinci kakhulu. Nangona kunjalo, unyango lucwangciswa ngoncedo lweengcali ezahlukeneyo, njengoko kufuneka.

Nazi ezinye iindlela zonyango:

• Uncedo lokutyisa: Abanye abantwana banokuba nobunzima bokuncancisa. Kwiimeko ezinjalo, iibhotile ezikhethekileyo okanye ukondla nge-nasogastric (NG) kunokufuneka.
• Ukuphucula umbono: Ungasebenzisa iiglasi okanye wenze utyando ukuphucula umbono wakho.
• Izixhobo zokuva: Ukuva kungaphuculwa ngokusebenzisa izixhobo zokuva okanye izixhobo zokuva ezifakwe emathanjeni.
• Unyango lokuthetha:Oku kubaluleke kakhulu ekuphuhliseni izakhono zolwimi nonxibelelwano.
• Utyando: Utyando lunokwenziwa ukulungisa isifo sentliziyo, imilebe eqhekekileyo okanye intlama evulekileyo, i-sleep apnea, iindlebe ezincinci (i-microtia), okanye ukukhubazeka komqolo.

Konke oku kwenzelwa ukuphucula umgangatho wobomi bomntwana kangangoko kunokwenzeka. Ngoko ke, kubaluleke kakhulu ukulandela icebiso elinikwa ngugqirha.

Ngaba utshintsho lobuso lunokulungiswa?

Ewe, le yingxaki kubazali abaninzi. Utyando lobuhle lungenziwa ukuze kwenziwe ubuso bube nomlinganiselo ofanayo. Iintsana ezininzi ezine-Goldenhar Syndrome ziye zenze utyando lokutshintsha inkangeleko yomhlathi wazo, amathambo ezihlathi, iindlebe, okanye ibunzi. Oku kudla ngokwenziwa xa umntwana emdala kancinci, eneminyaka efanelekileyo.

Ngaba iGoldenhar Syndrome ingathintelwa?

Njengoko besikhe sathetha ngaphambili, akukho ndlela iqinisekileyo yokuthintela le meko kuba unobangela ochanekileyo awukaziwa . Nangona kunjalo, kubalulekile ukulandela zonke iingcebiso zikagqirha wakho ngexesha lokukhulelwa. Ngokukodwa, musa ukusebenzisa amayeza aqulethe i-retinoic acid (njengamanye amayeza e-acne) ngaphandle kwengcebiso kagqirha wakho. Kubalulekile nokutya ukutya okunempilo.

Ukuba kukho umntu kusapho lwakho okhe waba neGoldenhar Syndrome, licebo elihle ukufumana ingcebiso ngemfuza. Emva koko, ukuba uceba ukuba nomntwana, ungayiqonda ingozi yokuba loo mntwana abe nale meko.

Buza kuba njani ubomi xa kukho le meko?

Oku kusenokuvakala kusoyikisa kancinci kuwe. Nangona kunjalo, nangona ikamva labantu abaphila neGoldenhar Syndrome lahluka, uninzi lwabantu lufumana iziphumo ezilungileyo . Ngonyango olufanelekileyo, abantwana abanale meko banokuphila ubomi obuqhelekileyo. Bayakwazi ukufunda, ukudlala, kunye nokuthatha inxaxheba kuluntu.

Zeziphi izinto ofuna ukuzibuza ugqirha?

Xa ufumanisa ukuba umntwana wakho unale meko, unokuba nemibuzo emininzi. Ngelo xesha, ungoyiki ukubuza ugqirha wakho ezi zinto:

• "Gqirha/Nkosazana, zeziphi iimpawu eziphambili zeGoldenhar Syndrome?"
• "Zeziphi iimvavanyo ekufuneka ndizenze ukuqinisekisa ukuba umntwana wam unale nto?"
• "Zithini iindlela zonyango zoku? Yintoni elungele umntwana wam?"
• "Zeziphi ezinye iindawo onokuzithemba ukuze ufunde ngakumbi ngale meko?"
• "Ngaba kukho imibutho okanye amaqela abazali anceda abantwana neentsapho kule meko?"

Ukubuza le mibuzo kuya kukunceda ukuba uyiqonde ngcono imeko kwaye kuncede umntwana wakho afumane okona kulungileyo.

Ngaba iGoldenhar Syndrome lukhubazeko?

Ewe, ngamanye amaxesha okuUkukhubazeka kunokuthathwa njengokukhubazeka. Umzekelo, ukuba kukho ukukhubazeka kokuva okanye ukubona, kunokuba kukukhubazeka. Ngokufanayo, ukuba kukho ukukhubazeka kwengqondo, loo mntu unokufuna inkxaso engakumbi ukuze enze umsebenzi wemihla ngemihla nokufunda. Ke ngoko, luxanduva lwethu njengoluntu ukubanika izibonelelo kunye nenkxaso efunekayo.

Ziziphi ezinye iimeko ezineempawu ezifanayo?

Kukho ezinye iimeko ezininzi ezineempawu ezifanayo nezeGoldenhar Syndrome. Ngoko ke, kubaluleke kakhulu ukufumana uxilongo oluchanekileyo. Ezinye zezi meko zezi:

• Isifo se-Branchio-oto-renal `(isifo se-Branchioootorenal (BOR))`
• Umbutho we-CHARGE
• Isifo seTownes-Brocks
• Isifo sikaTreacher Collins
• Umbutho we-VACTERL

Nangona oku kusenokuvakala kuyinkimbinkimbi kancinci, oogqirha bayakuqwalasela konke oku xa befumanisa isifo.

Oko kufuneka sikukhumbule koko sithethe ngako!

I-Goldenhar Syndrome yimeko engaqhelekanga ebakho xa umntwana ezalwa. Ichaphazela kakhulu ukuma kobuso bomntwana, intloko, kwaye ngamanye amaxesha amalungu angaphakathi. Oogqirha banokulungisa ezinye iingxaki zobuso okanye zomqolo ngexesha losana ngotyando.

Into ebalulekileyo kukuba abanye abantwana basenokungadingi unyango olukhethekileyo ukuba iimpawu zabo azikho nzulu. Kwaye, kwiimeko ezininzi, abantu abane-Goldenhar Syndrome baphila ubomi obonwabisayo nobanelisayo ngonyango olufunekayo kunye nenkxaso.

Ukuba ucinga ukuba umntwana wakho unezinye zezi mpawu, musa ukoyika, kodwa bonana nogqirha ngokukhawuleza ukuze akunike icebiso. Ukuxilongwa kwangoko kunye nonyango olufanelekileyo kunokunika umntwana wakho ikamva elingcono.

I- Goldenhar syndrome, imeko yokuzalwa, isiphene sokuzalwa, i-craniofacial, i-hemifacial microsomia, i-oculo-auriculo-vertebral dysplasia, impilo yomntwana