Ingabe ingane yakho inalezi zimpawu? Ake sifunde nge-CHARGE Syndrome.

Bomama nobaba, anikhathazeki ngaso sonke isikhathi ngempilo yengane yenu encane? Ngezinye izikhathi, ngisho nezifo ezincane kakhulu ezihambisana nezingane zingase zibe ezesabekayo. Namuhla sizokhuluma ngesimo esingavamile kancane, kodwa kubaluleke kakhulu ukwazi ngaso. Lokhu kubizwa ngokuthi i-CHARGE Syndrome . Lokhu kungase kube kusha kuwe, kodwa ungakhathazeki. Ake sixoxe ngakho kalula nangendlela ongayiqonda.

Kuyini i-CHARGE Syndrome? Kalula nje...

I-CHARGE syndrome yisimo esingavamile sofuzo . Singathinta izingxenye eziningana zomzimba wengane yakho. Cabanga ngakho, amehlo, isimiso sezinzwa, inhliziyo, imigudu yamakhala, izitho zangasese, nezindlebe yizindawo eziyinhloko ezithintekile. Izingane ezinalesi simo zingase zibe nezici zobuso ezihlukile kanye nenhlanganisela yezimpawu. Odokotela baxilonga lesi simo ngokusekelwe kuzo zonke lezi zici.

Into ebalulekile ukuthi akuzona zonke izingane ezine-CHARGE syndrome ezifanayo. Izimpawu kanye nohlobo lwazo kungahluka kusuka komunye umntwana kuya komunye. Ezinye izinto ezingavamile zingaqala esibelethweni, futhi lesi simo singathinta ingane ngezindlela ezahlukene, iminyaka eminingi.

Ubani ongaba ne-CHARGE syndrome?

Lesi yisimo sofuzo esingathinta noma ubani. Ngokuvamile, sibangelwa ukuguquka kwezakhi zofuzo okusha . Lokhu kusho ukuthi akekho emndenini oke waba naso ngaphambili. Ngezinye izikhathi, ingane ingazuza lesi sakhi sofuzo esiguquliwe komunye wabazali ngesikhathi sokukhulelwa. Lokhu kuguquka kwezakhi zofuzo kwenzeka ngokungahleliwe. Ngakho-ke, akukho lutho abazali abangakwenza ukuvimbela lesi simo, kungaba ngaphambi noma ngesikhathi sokukhulelwa.

Sivame kangakanani lesi simo?

I-CHARGE syndrome iyisimo esingavamile kakhulu . Emhlabeni wonke, kulinganiselwa ukuthi yinye kuphela kwezinsana ezisanda kuzalwa ezingu-8,500 kuya ku-10,000 ethinteka yilesi simo.

I-CHARGE syndrome ithinta kanjani umzimba wengane yami?

Uma i-gene ebangela lesi simo iguquguquka, amangqamuzana ethu awatholi imiyalelo ayidingayo ukuze akhule futhi asebenze kahle. Yingakho kuthinta izingxenye eziningi zomzimba. Izimpawu ngezinye izikhathi zingaba zincane, kodwa ngezinye izikhathi zingaba zimbi kakhulu futhi zisongele impilo . Lokhu kuyiqiniso ikakhulukazi uma inhliziyo yengane kanye nezitho zangaphakathi zingakakhuli kahle ngesikhathi ikhula esibelethweni.

Udokotela wakho uzoqapha ngokucophelela ukukhula komntwana wakho ngisho nangaphambi kokuzalwa. Lokhu kwenzelwa ukulungiselela ukufika komntwana wakho nokuhlela ukwelashwa okusheshayo ukuvimbela izinkinga ezisongela ukuphila. Lokhu kubaluleke kakhulu uma izimpawu zithinta izinto ezifana nenhliziyo, ukuphefumula, noma ukudla.

Ziyini izimpawu ze-CHARGE syndrome?

Izinhlamvu ezisegameni elithi CHARGE zingakusiza ukhumbule ezinye zezimpawu eziyinhloko zalesi simo.

• C - Ukukhubazeka kwe-Coloboma kanye ne-cranial nerve:
• Ukulahlekelwa yingxenye yezicubu esweni. Lokhu kungase kubukeke njengokusikeka okuncane esweni.
• Izinkinga ngokulinganisela nokuxhumana.
• Ukukhubazeka kohlangothi olulodwa lobuso.
• Ukuncipha kwemizwa yokuhogela.
• H - Ukukhubazeka kwenhliziyo:
• Isifo senhliziyo esikhona lapho kuzalwa (esizalwa naso). Isibonelo, izimo ezifana ne -tetralogy of Fallot , i-ventricular septal defect , i-atrioventricular canal defect, kanye/noma ukukhubazeka kwe-aortic arch .
• A - I-Atresia ye-choanae:
• Ukuvaleka noma ukuvaleka ngokuphelele kwemigudu yamakhala kungabangela ubunzima bokuphefumula kanye ne-apnea yokulala.
• R - Ukuvinjelwa kokukhula nentuthuko:
• Ingane idinga isikhathi esengeziwe ukuze ifinyelele imigomo yobude nesisindo esifanele iminyaka.
• Kuthatha isikhathi esengeziwe ukufinyelela izigaba zokukhula ezifanele iminyaka.
• G - Ukukhubazeka kwesitho sangasese:
• Kwabafana, ipenisi lincane (ipenisi encane) futhi/noma amasende awawehli (i-cryptorchidism) .
• E - Ukukhubazeka kwendlebe:
• Izinto ezingavamile njengezindlebe eziphumile kanye nama-earlobes angekho.
• Ukukhubazeka kokuzwa, mhlawumbe ngisho nokungezwa.

Nakuba izimpawu eziningi zibonakala ekuzalweni, ngezinye izikhathi lesi simo singatholakala kamuva ekuphileni, lapho izimpawu zibonakala kamuva.

Yiziphi ezinye izimpawu ezengeziwe?

Ngaphezu kwalezi zimpawu eziyinhloko, ezinye izimpawu zingase zihlanganise:

• Ubunzima bokugwinya ukudla nokuphuza.
• Izinkinga zokuthuthukiswa kwengqondo.
• Umlomo oqhekekile noma ulwanga oluqhekekile.
• Ubuthakathaka bemisipha (i-Hypotonia).
• Ukuphazamiseka kwezinso: uketshezi oluningi ezinso (i-hydronephrosis) , ukugeleza komchamo ezinso, noma inso encane noma engekho.
• Ukungasebenzi kahle kokudlula kusuka ku-esophagus kuya esiswini (i-esophageal atresia) .
• Ukukhathazeka noma ukuziphatha kokukhathazeka.
• I-Scoliosis .

Izici ezikhethekile ezibonakala ebusweni

Izingane ezine-CHARGE syndrome zingase zibe nezici ezithile zobuso:

• Ubuso obunesimo sesikwele.
• Ibunzi elibanzi.
• Amashiya agobile.
• Amehlo amakhulu.
• Ijwabu leso eligobile.
• Umlomo omncane nesilevu.
• Ubuso obungalingani.

Yini ebangela i-CHARGE syndrome?

Lokhu kungenzeka kakhulu ukuthi kubangelwa ukuguquka kwezakhi zofuzo ku-gene `CHD7`.. Le gene ethi 'CHD7' iyala amangqamuzana ethu ukuthi enze iphrotheni epakisha i-DNA yethu kuma-chromosome. Njengokusonga isipho. Le DNA epakishiwe ingashintsha usayizi wayo nesimo sayo (ukuyilungisa kabusha), okusho ukuthi ingapakishwa ngokuqinile noma ngokukhululekile ngokwezidingo ze-chromosome ngayinye.

Kumuntu one-CHARGE syndrome, i-gene ethi `CHD7` ayikhiqizi amaprotheni ngendlela efanele. Khona-ke ama-molecule e-DNA awakwazi ukupakishwa ngokwemiyalelo. Yingakho lezi zimpawu zivela.

Akuvamile kakhulu ukuthi abanye abantu abane-CHARGE syndrome bangabi noguquko ku-'CHD7' gene. Noma bangase babe noguquko kwenye i-gene ku-DNA yabo. Lezi zimbangela ezingavamile zisacwaningwa. Ukwelulekwa ngofuzo kubaluleke kakhulu ezimweni ezinjalo.

Ingabe i-CHARGE syndrome ingazuzwa njengefa?

Yebo, lesi yisimo esingazuzwa njengefa. Uma umuntu ezuza ikhophi eyodwa yesakhi sofuzo se-CHD7 esiguquliwe ngesikhathi sokukhulelwa, izimpawu zingavela. Lokhu kubizwa ngokuthi ukudluliselwa okunamandla kwe-autosomal . Kodwa-ke, isikhathi esiningi, lezi zinguquko zezakhi zofuzo zenzeka njengezinguquko ezintsha. Lokhu kusho ukuthi akekho emndenini oke waba nalesi simo ngaphambili. Umzali onezingane ezimbili ezine-CHARGE syndrome, noma umuntu one-CHARGE syndrome, unethuba elingu-50% lokuba nomntwana onalesi simo.

Itholakala kanjani i-CHARGE syndrome?

Udokotela wengane yakho uzoqala ngokuyihlola ngokomzimba ukuze ahlole izimpawu eziyinhloko zalesi simo. Ukuqinisekisa ukuxilongwa, udokotela uzokwenza ukuhlolwa kofuzo . Lokhu kuhilela ukuthatha isampula encane yegazi nokufuna izinguquko ku-CHD7 gene.

Ukuze uqinisekise ukuthi izimpawu zengane yakho azisongeli impilo, kungadingeka ukuthi wenze ukuhlolwa okwengeziwe kwegazi, umchamo, noma izithombe. Lokhu kwenziwa ukuhlola impilo yezitho zangaphakathi zengane yakho. Lokhu kuhlolwa kuzohluka kuye ngengane, kuye ngezimpawu zayo. Khuluma nodokotela wakho nganoma yiziphi izivivinyo ezengeziwe ezingadingeka ukuqinisekisa ukuthi ingane yakho iphilile.

Iphathwa kanjani i-CHARGE syndrome?

Ukwelashwa kwe-CHARGE syndrome kuyahlukahluka kuye ngengane. Ukugxila okuyinhloko ukuqeda izimpawu zengane. Izinketho zokwelapha zingafaka:

• Ukuhlinzwa kwezimo ezifana nomlomo oqhekekile noma ulwanga, isifo senhliziyo, noma i-choanal atresia.
• Ukubamba iqhaza ekwelashweni ngokomsebenzi, ekwelashweni ngokomzimba, noma ekwelashweni ngenkulumo ukuze ufundise ingane yakho imikhuba yokudla efanele futhi unqobe izinselele zokukhuluma nolimi.
• Ukufaka ipayipi lokudla ukuze kusize ingane idle ize ifunde ukugwinya.
• Ukusebenzisa umshini wokuphefumula noma umshini we-CPAP ukusiza ngobunzima bokuphefumula noma i-sleep apnea.
• Kwabanenkinga yokuzwaUkusebenzisa izinsiza zokuzwa noma izifakelo ze-cochlear.
• Ukudluliselwa kwemfundo ekhethekile ukuze kuthuthukiswe intuthuko yengqondo.
• Ukunikeza imithi yezimpawu ezithile.

Umxhumanisi wokunakekelwa ungumuntu obalulekile wokuphatha lesi simo ngempumelelo futhi anikeze ukwesekwa ngokomzwelo. Cela umhlinzeki wakho wezempilo ukuthola ulwazi olwengeziwe.

Ngingayinakekela kanjani ingane yami ene-CHARGE syndrome?

Ingane ene-CHARGE syndrome ingadinga isikhathi esengeziwe ukuze ikhule futhi ithuthuke. Ingase ishiyeke kancane ezintweni ezibalulekile ezihambisana nobudala bayo, njengokuhlala phansi ngaphandle kokusekelwa nokukhuluma. Eminyakeni embalwa yokuqala yokuphila, qapha ngokucophelela izinto ezibalulekile zokukhula kwengane yakho. Tshela udokotela wakho uma ingane yakho iphuthelwa yinoma yiziphi izinto ezibalulekile. Udokotela wakho uzoqapha intuthuko yengane yakho emitholampilo futhi aqaphe intuthuko yayo eminyakeni edlule. Hlala uhlola njalo futhi uhlole ukuqinisekisa ukuthi ingane yakho iphilile njengoba ikhula futhi ayikho engozini yokuthola imiphumela emibi yokuxilongwa.

Ingabe i-CHARGE syndrome ingavinjelwa?

Cha, i-CHARGE syndrome iyisimo sofuzo futhi ayinakuvinjelwa . Ukuguquka kwezakhi zofuzo okubangela lokhu kuvame ukwenzeka ngokungahleliwe, ngaphandle kokuthi noma ubani emndenini abe nalesi simo ngaphambili. Ngakho-ke, kunzima ukuyibona kusenesikhathi.

Yini ongayilindela kumuntu onesifo se-CHARGE?

Uma ingane iqala ukutholakala inalesi simo, udokotela uzokwenza izivivinyo ukuze abone ukuthi inhliziyo yengane kanye nezitho zangaphakathi zisebenza kahle yini nokuthi ngabe kukhona izimpawu ezisongela impilo. Uma kukhona ukukhubazeka kokukhula, ikakhulukazi lezo ezithinta inhliziyo, kungase kudingeke ukuhlinzwa ukuze kulungiswe. Izingane eziningi ezisanda kuzalwa zidinga usizo lokugwinya. Ngakho-ke, udokotela angase abeke ipayipi lokuncelisa esiswini sengane ukuze anikeze ukudla okunomsoco ezikudingayo ukuze ziphile zize zikwazi ukugwinya zodwa. Kunezindlela eziningi zokwelapha ezengeziwe kanye nokusekelwa okutholakalayo ukuhlangabezana nezidingo zempilo yengane yakho.

Akukho ukwelashwa okuphelele kwe-CHARGE syndrome.

Ingakanani iminyaka yokuphila yomuntu one-CHARGE syndrome?

Isikhathi sokuphila sosana olusanda kuzalwa olune-CHARGE syndrome siyahlukahluka kuye ngokuthi izimpawu zalo zibucayi kangakanani. Izinsana ezinezimpawu ezinzima zinezinga eliphezulu lokufa phakathi neminyaka emihlanu yokuqala yokuphila. Kodwa-ke, izingane ezinezimpawu ezincane zingaphila impilo evamile ngokunakekelwa okusekelayo impilo yonke.

Uma ingane yakho itholakala ine-CHARGE syndrome, khuluma nodokotela wakho ngezimpawu zayo kanye nobude bokuphila ukuze uyisize iphile impilo ejabulisayo nenempilo.

Kufanele ngimbone nini udokotela wengane yami?

Bona udokotela uma ingane yakho inanoma yikuphi kwalokhu okulandelayo:

• Uma kukhona ukutheleleka endaweni yokuhlinzwa.
• Uma izinyathelo zokukhula ezifanele iminyaka zingafinyelelwanga.
• Uma ungakwazi ukudla noma ukuphuza.
• Uma unezinkinga zokuzwa noma zokubona.
• Uma unenkinga yokugwinya.

Uma ingane yakho inenkinga yokuphefumula, ukushintsha kombala womzimba, ubunzima obukhulu bokudla, noma ukushaya kwenhliziyo okungajwayelekile, hamba esibhedlela ngokushesha.

Yimiphi imibuzo okufanele ngiyibuze udokotela wami?

• Zingakanani izimpawu zengane yami?
• Ingakanani iminyaka yokuphila kwengane yami?
• Ingabe ingane yami idinga ukuhlinzwa?
• Ingabe ikhona imiphumela emibi engaba khona emithini oyinikezwe udokotela?

Kuvamile ukuzizwa ukhungathekile uma uthola ukuthi ingane yakho esanda kuzalwa inesifo esingavamile sofuzo. Abanye abazali nabanakekeli bathola ukwelulekwa ngofuzo kuyindlela enhle yokufunda kabanzi ngokuxilongwa kwengane yabo nokuthi bangayisiza kanjani ingane yabo iphile impilo engcono. Gcina irekhodi lezimpawu zengane yakho nokuthi ngabe ihlangabezana yini nezigaba zokukhula zobudala bayo emtholampilo. Xhumana nodokotela wakho uma unemibuzo noma ukukhathazeka ngempilo yengane yakho.

Izinto ezibaluleke kakhulu okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)

Nakuba i-CHARGE syndrome iyisimo esiyinselele, ukutholakala kusenesikhathi, ukwelashwa okufanele, kanye nokunakekelwa ngothando kungasiza ingane ukuba iphile impilo engcono kakhulu.

• Ingane ngayinye ihlukile: Izimpawu kanye nobunzima bazo kuyahlukahluka kusuka komunye umntwana kuya komunye. Ngakho-ke ungaziqhathanisi nezinye.
• Ukusekelwa kwethimba lemikhakha eyahlukene: Ukuphatha lesi simo kudinga ochwepheshe abahlukahlukene, abelaphi, kanye nezinsizakalo zokusekela.
• Isineke nokuqonda: Nikeza ingane yakho isikhathi esengeziwe kanye nokusekela ukukhula kwayo.
• Awuwedwa: ​​xhumana neminye imindeni enezingane ezinjengalezi, joyina amaqembu okusekelana. Kuzokunika amandla amaningi.
• Landela imiyalelo kadokotela wakho: Ungaphuthelwa ama-aphoyintimenti nokuhlolwa okuhleliwe. Khuluma nodokotela wakho uma unezinkinga.

Khumbula, noma ngabe ingane yakho inalesi simo, uthando lwakho, ukwesekwa kwakho, kanye nesiqondiso esifanele kungenza umehluko omkhulu empilweni yayo.

I- CHARGE syndrome, izifo zofuzo, izifo zobuntwana, ukubambezeleka kokukhula, ukukhubazeka kwenhliziyo, ukukhubazeka kokuzwa, i-coloboma