Ngaba umntwana wakho unazo ezi mpawu? Masifunde nge-CHARGE Syndrome.

Mama nootata, anisoloko nixhalabile ngempilo yomntwana wenu omncinci? Ngamanye amaxesha, nezifo ezincinci eziza neentsana zinokuba ziyoyikisa. Namhlanje siza kuthetha ngemeko engaqhelekanga, kodwa kubaluleke kakhulu ukuyazi. Oku kubizwa ngokuba yi-CHARGE Syndrome . Oku kusenokuba yinto entsha kuwe, kodwa ungakhathazeki. Masithethe ngayo ngokulula nangendlela onokuyiqonda.

Yintoni i-CHARGE Syndrome? Ngamafutshane...

I-CHARGE syndrome yimeko engaqhelekanga yemfuza . Ingachaphazela iindawo ezininzi zomzimba womntwana wakho. Cinga ngayo, amehlo, inkqubo yemithambo-luvo, intliziyo, imingxunya yempumlo, amalungu esini, kunye neendlebe zezona ndawo ziphambili zichaphazeleka. Abantwana abanale meko banokuba neempawu zobuso ezahlukileyo kunye neempawu ezidibeneyo. Oogqirha baxilonga le meko ngokusekelwe kuzo zonke ezi zinto.

Into ebalulekileyo kukuba ayingomntwana wonke one-CHARGE syndrome ofanayo. Iimpawu kunye nohlobo lwazo zinokuhluka ukusuka komnye umntwana ukuya komnye. Ezinye izinto ezingaqhelekanga zinokuqala esibelekweni, kwaye imeko inokuchaphazela umntwana ngeendlela ezahlukeneyo, kangangeminyaka emininzi.

Ngubani onokuba ne-CHARGE syndrome?

Le yimeko yemfuza enokuchaphazela nabani na. Ihlala ibangelwa kukuguquka kwemfuza okutsha . Oku kuthetha ukuba akukho mntu kusapho lwakhe wakha waba nayo ngaphambili. Ngamanye amaxesha, umntwana angayifumana le jini iguqukileyo komnye wabazali ngexesha lokukhulelwa. Olu tshintsho lwemfuza lwenzeka ngokungacwangciswanga. Ke ngoko, akukho nto abazali abanokuyenza ukuthintela le meko, nokuba ngaphambi okanye ngexesha lokukhulelwa.

Ixhaphake kangakanani le meko?

I-CHARGE syndrome yimeko engaqhelekanga kakhulu . Ehlabathini lonke, kuqikelelwa ukuba ngumntwana omnye kuphela kwi-8,500 ukuya kwi-10,000 oza kuzalwa ochaphazeleka yile meko.

I-CHARGE syndrome iyichaphazela njani umzimba womntwana wam?

Xa i-gene ebangela le meko iguquguquka, iiseli zethu azifumani miyalelo eziyidingayo ukuze zikhule kwaye zisebenze ngokufanelekileyo. Yiyo loo nto ichaphazela amalungu amaninzi omzimba. Iimpawu ngamanye amaxesha zinokuba zincinci, kodwa ngamanye amaxesha zinokuba nzima kakhulu kwaye zisongele ubomi . Oku kuyinyani ngakumbi ukuba intliziyo yomntwana kunye namalungu angaphakathi azange akhule ngokufanelekileyo ngelixa ekhula esibelekweni.

Ugqirha wakho uza kujonga ngokusondeleyo ukukhula komntwana wakho nangaphambi kokuba azalwe. Oku kukulungiselela ukufika komntwana wakho kunye nokuceba unyango olukhawulezileyo ukuthintela iingxaki ezisongela ubomi. Oku kubaluleke kakhulu ukuba iimpawu zichaphazela izinto ezifana nentliziyo, ukuphefumla, okanye ukutya.

Zithini iimpawu ze-CHARGE syndrome?

Oonobumba abakwigama elithi CHARGE banokukunceda ukhumbule ezinye zeempawu eziphambili zale meko.

• C - Ukuphazamiseka kwemithambo-luvo ye-Coloboma kunye ne-cranial:
• Ukulahleka kwenxalenye yethishu elisweni. Oku kunokubonakala ngathi kukunqunyulwa okuncinci kwi-iris.
• Iingxaki ngokulinganisela kunye nokulungelelanisa.
• Ukukhubazeka kwelinye icala lobuso.
• Ukuncipha kwemvakalelo yokuvumba.
• H - Iziphene zentliziyo:
• Isifo sentliziyo esibakho xa umntwana ezalwa (esizalwa naso). Umzekelo, iimeko ezifana ne -tetralogy of Fallot , i-ventricular septal defect , i-atrioventricular canal defect, kunye/okanye i-aortic arch abnormalities .
• A - I-Atresia ye-choanae:
• Ukuvaleka okanye ukuvaleka ngokupheleleyo kweendlela zokungena empumlweni kunokubangela ubunzima bokuphefumla kunye ne-apnea yokulala.
• R - Ukuthintelwa kokukhula nophuhliso:
• Umntwana udinga ixesha elongezelelekileyo ukuze afikelele kubude nobunzima obufanelekileyo ngokweminyaka yakhe.
• Kuthatha ixesha elongezelelekileyo ukufikelela kwimigangatho yophuhliso ehambelana neminyaka.
• G - Ukungaqheleki kwesini:
• Kumakhwenkwe, ipenisi incinci (ipenisi encinci) kwaye/okanye amasende awahla (i-cryptorchidism) .
• E - Ukungaqheleki kweendlebe:
• Izinto ezingaqhelekanga ezifana neendlebe ezivele ngaphandle kunye neendlebe ezilahlekileyo.
• Ukuphazamiseka kokuva, mhlawumbi nokuba sisithulu.

Nangona iimpawu ezininzi zibonakala xa umntwana ezalwa, ngamanye amaxesha imeko inokufunyanwa kamva ebomini, xa iimpawu zibonakala kamva.

Ziziphi ezinye iimpawu ezongezelelweyo?

Ukongeza kwezi mpawu ziphambili, ezinye iimpawu zingabandakanya:

• Ubunzima bokuginya ukutya nokusela.
• Iingxaki zophuhliso lwengqondo.
• Imilebe eqhekekileyo okanye incakuba eqhekekileyo.
• Ubuthathaka bemisipha (iHypotonia).
• Ukungaqheleki kwezintso: ulwelo olugqithisileyo kwizintso (i-hydronephrosis) , ukubuyela komchamo kwizintso, okanye izintso ezincinci okanye ezingekhoyo.
• Ukungasebenzi kakuhle kwendlela yokudlula ukusuka kwi-esophagus ukuya esiswini (i-esophageal atresia) .
• Ukuxhalaba okanye ukuziphatha okuxhalabileyo.
• I-Scoliosis .

Iimpawu ezikhethekileyo ezibonwa ebusweni

Abantwana abane-CHARGE syndrome banokuba neempawu ezithile zobuso:

• Ubuso obumile okwesikwere.
• Ibunzi elibanzi.
• Amashiya agobileyo.
• Amehlo amakhulu.
• Ijwabu eligobileyo.
• Umlomo omncinci nesilevu.
• Ubuso obungalinganiyo.

Yintoni ebangela i-CHARGE syndrome?

Oku kusenokwenzeka ukuba kubangelwa kukuguquka kwezakhi zofuzo kwi-gene `CHD7`.. Le gene ye-`CHD7` iyalela iiseli zethu ukuba zenze iproteni epakisha iDNA yethu kwiichromosomes. Njengokusonga isipho. Le DNA epakishiweyo inokutshintsha ubungakanani bayo kunye nokuma kwayo (ukulungiswa kwakhona), oko kuthetha ukuba inokupakishwa ngokuqinileyo okanye ngokukhululekileyo ngokweemfuno zechromosome nganye.

Kumntu one-CHARGE syndrome, i-`CHD7` gene ayivelisi iiproteni ngokufanelekileyo. Emva koko iimolekyuli ze-DNA azinakufakwa ngokwemiyalelo. Yiyo loo nto ezi mpawu zibonakala.

Kunqabile kakhulu ukuba abanye abantu abane-CHARGE syndrome bangabi natshintsho kwi-gene ye-`CHD7`. Okanye banokuba notshintsho kwenye i-gene kwi-DNA yabo. Ezi zizathu zingaqhelekanga zisaphandwa. Ucebisi nge-genetic lubaluleke kakhulu kwiimeko ezinjalo.

Ngaba isifo se-CHARGE sinokufunyanwa njengelifa?

Ewe, le yimeko enokuzuzwa njengelifa. Ukuba umntu ufumana ikopi enye yejini ye-CHD7 eguquliweyo ekukhulelweni, iimpawu zinokwenzeka. Oku kubizwa ngokuba yi -autosomal dominant transmission. Nangona kunjalo, uninzi lwexesha, olu tshintsho lwejini lwenzeka njenge-de novo mutations. Oku kuthetha ukuba akukho mntu kusapho okhe waba nale meko ngaphambili. Umzali onabantwana ababini abane-CHARGE syndrome, okanye umntu one-CHARGE syndrome, unethuba lama-50% lokuba nomntwana onesi sifo.

Ifunyanwa njani i-CHARGE syndrome?

Ugqirha womntwana wakho uza kuqala amhlole ngokwasemzimbeni umntwana wakho ukuze ajonge iimpawu eziphambili zale meko. Ukuqinisekisa ukuxilongwa, ugqirha uza kwenza uvavanyo lwemfuza . Oku kuquka ukuthatha isampuli yegazi elincinci nokukhangela utshintsho kwi-CHD7 gene.

Ukuqinisekisa ukuba iimpawu zomntwana wakho azisongeli ubomi, kunokufuneka wenze uvavanyo olongezelelweyo lwegazi, umchamo, okanye uvavanyo lwemifanekiso. Ezi vavanyo zenzelwa ukujonga impilo yezitho zangaphakathi zomntwana wakho. Ezi vavanyo ziya kwahluka ukusuka kumntwana ukuya komnye, kuxhomekeke kwiimpawu zakhe. Thetha nogqirha wakho malunga nazo naziphi na iimvavanyo ezongezelelweyo ezinokuthi zifuneke ukuqinisekisa ukuba umntwana wakho usempilweni.

Iphathwa njani i-CHARGE syndrome?

Unyango lwe-CHARGE syndrome luyahluka kumntwana ngamnye. Eyona nto iphambili kukunciphisa iimpawu zomntwana. Iindlela zonyango zingabandakanya:

• Utyando lweemeko ezinje ngomlomo oqhekekileyo okanye intlama evulekileyo, isifo sentliziyo, okanye i-choanal atresia.
• Ukuthatha inxaxheba kunyango lomsebenzi, unyango lomzimba, okanye unyango lokuthetha ukuze ufundise umntwana wakho indlela efanelekileyo yokutya kunye nokunqoba imingeni yokuthetha nolwimi.
• Ukufaka ityhubhu yokutyisa ukuze umntwana atye ade afunde ukuginya.
• Ukusebenzisa umatshini womoya okanye we-CPAP ukunceda kwiingxaki zokuphefumla okanye i-sleep apnea.
• Kwabaneengxaki zokuvaUkusebenzisa izixhobo zokuva okanye izixhobo zokufakelwa i-cochlear.
• Ukuthunyelwa kwimfundo ekhethekileyo ukuphucula uphuhliso lwengqondo.
• Ukunika amayeza eempawu ezithile.

Umququzeleli wokhathalelo ngumntu obalulekileyo ukulawula le meko ngempumelelo nokubonelela ngenkxaso yeemvakalelo. Cela umboneleli wakho wezempilo ukuba akunike ulwazi oluthe kratya.

Ndingamnyamekela njani umntwana wam one-CHARGE syndrome?

Umntwana one-CHARGE syndrome usenokufuna ixesha elongezelelekileyo lokukhula nokukhula. Basenokuba semva kancinci kwizinto ezibalulekileyo ngokweminyaka, njengokuhlala phantsi ngaphandle kwenkxaso nokuthetha. Kwiminyaka embalwa yokuqala yobomi, hlala ujonge izinto ezibalulekileyo zokukhula komntwana wakho. Xelela ugqirha wakho ukuba umntwana wakho uphoswa zizinto ezibalulekileyo. Ugqirha wakho uza kujonga uphuhliso lomntwana wakho kwiikliniki aze ajonge inkqubela yakhe kwiminyaka edlulileyo. Hlala uhlola rhoqo kwaye uvavanya ukuqinisekisa ukuba umntwana wakho usempilweni njengoko ekhula kwaye akakho semngciphekweni weziphumo ebezingalindelekanga zokuxilongwa.

Ngaba i-CHARGE syndrome ingathintelwa?

Hayi, i-CHARGE syndrome yimeko yemfuza kwaye ayinakuthintelwa . Utshintsho lwemfuza oluyibangelayo ludla ngokuvela ngokungacwangciswanga, ngaphandle kokuba nabani na kusapho lwakhe abe nale meko ngaphambili. Ngenxa yoko, kunzima ukuyibona kwangaphambili.

Yintoni onokuyilindela kumntu one-CHARGE syndrome?

Xa umntwana eqala ukuxilongwa ukuba unale meko, ugqirha uya kwenza uvavanyo ukuze abone ukuba intliziyo yomntwana kunye namalungu angaphakathi asebenza kakuhle na kwaye ukuba kukho naziphi na iimpawu ezisongela ubomi. Ukuba kukho naziphi na iingxaki zophuhliso, ingakumbi ezo zichaphazela intliziyo, kunokufuneka utyando ukuze zilungiswe. Iintsana ezininzi ezisandul’ ukuzalwa zifuna uncedo lokuginya. Ke ngoko, ugqirha unokubeka ityhubhu yokondla esiswini somntwana ukuze anike isondlo asidingayo ukuze aphile de akwazi ukuginya yedwa. Kukho unyango olongezelelweyo kunye neenkxaso ezikhoyo ukuhlangabezana neemfuno zempilo yomntwana wakho.

Akukho nyango lupheleleyo lwe-CHARGE syndrome.

Ingakanani iminyaka yobomi bomntu one-CHARGE syndrome?

Ulindelo lobomi bosana olusandul’ ukuzalwa olune-CHARGE syndrome luyahluka ngokuxhomekeke kubukhali beempawu zalo. Iintsana ezineempawu ezinzima zinomlinganiselo ophezulu wokufa kwiminyaka emihlanu yokuqala yobomi. Nangona kunjalo, abantwana abaneempawu ezincinci banokuphila ubomi obuqhelekileyo ngoncedo oluxhaswayo ubomi bonke.

Ukuba umntwana wakho ufunyaniswe ene-CHARGE syndrome, thetha nogqirha wakho malunga neempawu zakhe kunye nobude bobomi bakhe ukuze umncede aphile ubomi obonwabisayo nobunempilo.

Ndifanele ndimbone nini ugqirha womntwana wam?

Bona ugqirha ukuba umntwana wakho unenye yezi zinto zilandelayo:

• Ukuba kukho usulelo kwindawo yotyando.
• Ukuba amanyathelo ophuhliso afanele ubudala akafikelelwa.
• Ukuba awukwazi ukutya okanye ukusela.
• Ukuba uneengxaki zokuva okanye zokubona.
• Ukuba unengxaki yokuginya.

Ukuba umntwana wakho unengxaki yokuphefumla, utshintsho kumbala womzimba, ubunzima obukhulu bokutya, okanye ukubetha kwentliziyo okungaqhelekanga, yiya esibhedlele ngoko nangoko.

Ndingayibuza yiphi imibuzo ugqirha wam?

• Zinzima kangakanani iimpawu zomntwana wam?
• Ingakanani iminyaka yobomi bomntwana wam?
• Ngaba umntwana wam udinga utyando?
• Ngaba kukho naziphi na iziphumo ebezingalindelekanga kumayeza owanikwe wona?

Kuqhelekile ukuziva uxinezelekile xa ufumanisa ukuba usana lwakho lunesimo esingaqhelekanga semfuza. Abanye abazali kunye nabanakekeli bafumana iingcebiso ngemfuza njengendlela entle yokufunda ngakumbi malunga nokuxilongwa komntwana wabo kunye nendlela yokunceda umntwana wabo aphile ubomi obungcono. Gcina irekhodi yeempawu zomntwana wakho kunye nokuba uyahlangabezana namanqanaba okukhula ngokobudala bakhe ekliniki. Nxibelelana nogqirha wakho ukuba unemibuzo okanye iinkxalabo malunga nempilo yomntwana wakho.

Izinto ezibalulekileyo ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

Nangona i-CHARGE syndrome inzima, ukubonwa kwangoko, unyango olufanelekileyo, kunye nenkathalo yothando kunokunceda umntwana aphile ubomi obungcono kangangoko.

• Wonke umntwana wahlukile: Iimpawu kunye nobunzima bazo ziyahluka ukusuka komnye umntwana ukuya komnye. Ngoko ke musa ukuzithelekisa nabanye.
• Inkxaso yeqela leengcali ezahlukeneyo: Ukulawula le meko kufuna iingcali ezahlukeneyo, iingcali zonyango, kunye neenkonzo zenkxaso.
• Umonde nokuqonda: Nika umntwana wakho ixesha elongezelelweyo kunye nenkxaso yokukhula kwakhe.
• Awuwedwa: qhagamshelana nezinye iintsapho ezinabantwana abanjengale, joyina amaqela enkxaso. Oku kuya kukunika amandla amaninzi.
• Landela imiyalelo kagqirha wakho: Ungaphoswa ziintlanganiso ezicwangcisiweyo kunye novavanyo. Thetha nogqirha wakho ukuba uneengxaki.

Khumbula, nokuba umntwana wakho unale meko, uthando lwakho, inkxaso yakho, kunye nolwalathiso olufanelekileyo lunokwenza umahluko omkhulu ebomini bakhe.

Isifo se - CHARGE, izifo zemfuza, izifo zobuntwana, ukulibaziseka kokukhula, iziphene zentliziyo, ukungasebenzi kakuhle kokuva, i-coloboma