Njengabazali, iphupho lethu elikhulu ukubona izingane zethu ziphilile futhi zijabule. Kodwa ngezinye izikhathi, izingane zingaba nezinkinga zempilo esingazilindele. Cabanga ukuthi ingane yakho encane ayiphenduli kakhulu emisindweni kusukela ngosuku eyazalwa ngalo. Noma lapho ikhula kancane, uyaqaphela ukuthi inenkinga yokuthola izinto ezindaweni ezikhanyayo ebusuku nokuhamba. Kuvamile ukuzwa ukwesaba okukhulu nokukhathazeka ngezikhathi ezinjengalezi. Namuhla, sizokhuluma ngesimo esingavamile esibangela izinkinga zokuzwa nokubona ngesikhathi esisodwa, kodwa okungakhulunywa ngaso kakhulu emphakathini wethu. Leso yi-Usher Syndrome.
Iyini ngempela i-Usher Syndrome?
Kalula nje, i-Usher Syndrome yisimo esizuzwe njengefa esithinta kakhulu ukuzwa nokubona kwengane. Kwezinye izimo, sithinta nekhono lomzimba lokugcina ibhalansi. Lokhu kubangelwa izinguquko ezithile (ukuguqulwa kwezakhi zofuzo) kwezinye izakhi zofuzo ezisiza ukuzwa nokubona ukukhula ngenkathi ingane isesesibelethweni. Lesi ngokuvamile yisimo esizalwa naso, noma izimpawu ziqala ukuvela ebuntwaneni. Kodwa-ke, akuvamile kakhulu, kuba nabantu ababonisa izimpawu kamuva ekuphileni.
Lesi yisimo esingavamile kakhulu. Sithinta abantu abaphakathi kuka-3 no-6 kubantu abayi-100,000 emhlabeni jikelele. Nakuba okwamanje kungekho ikhambi, kunezindlela eziningi zokuphatha izimpawu nokusiza ingane ukuba iphile impilo enhle.
Yiziphi izinhlobo eziyinhloko ze-Usher Syndrome?
Kuye kwatholakala izinguquko eziningana zezakhi zofuzo ezibangela lesi sifo. Izinhlobo zesifo ziyahlukahluka kuye ngokuthi lezi zakhi zofuzo zihlanganiswa kanjani. Kodwa zonke lezi zinhlobo zithinta ukuzwa, ukubona, kanye nokulinganisela. Umehluko omkhulu usesikhathini esithathayo ukuqala kwezimpawu nokuthi zimbi kangakanani. Ake sibheke lezi zinhlobo ezintathu eziyinhloko.
Ngidale leli thebula ukuze kube lula ukuqonda lolu lwazi.
| Uhlobo | Izinkinga zokuzwa | Izinkinga zokubona | Izinkinga zokulinganisela |
|---|---|---|---|
| Uhlobo 1 | Azinzima kakhulu ukuzwa lapho zizalwa (kungenzeka ukuthi ziyizithulu). | Kuqala ebuntwaneni. Okokuqala, ukubona ebusuku kuncipha. Kuba kubi kakhulu ngokuhamba kweminyaka. | Iba khona lapho izalwa. Lokhu kubangela ukubambezeleka kokuqala ukuhamba. |
| Uhlobo 2 | Ukuzwa okulinganiselwe noma okukhulu ngesikhathi sokuzalwa, kodwa hhayi isithulu ngokuphelele. | Ngokuvamile kuqala ebusheni futhi kuya kuba kubi kakhulu ngokuhamba kweminyaka. | Izinkinga zokulinganisela ngokuvamile aziveli. |
| Uhlobo 3 | Ukuzwa kuyinto evamile ekuzalweni. Ukuzwa kuqala ukwehla ebuntwaneni. | Ukubona kuyinto evamile ekuzalweni. Ukubona kuqala ukwehla lapho umuntu esemdala. | Cishe ingxenye yabantu abanalolu hlobo bangase babe nezinkinga zokulinganisela. |
Yiziphi izimpawu eziyinhloko ezibonakala kulesi simo?
Nakuba izimpawu ziyahlukahluka kuye ngohlobo lwe-Usher Syndrome, kunezici eziningana ezivamile.
- Ukulahlekelwa ukuzwa: Abanye abantwana bazalwa bengezwa ngokuphelele. Abanye balahlekelwa ukuzwa okulinganiselwe. Abanye abantwana balahlekelwa ukuzwa kancane kancane njengoba bekhula.
- Ukulahlekelwa umbono: Lokhu kubangelwa yi -retinitis pigmentosa (RP), isifo se-retina yeso. Lokhu kubangelwa ukubhujiswa kancane kancane kwamangqamuzana azwela ukukhanya (izinduku nama-cone) esweni.
- Uphawu lokuqala: Ukubona okufiphele ebusuku noma ekukhanyeni okufiphele ( ubumpumputhe basebusuku ). Isibonelo, ingane ingaba nobunzima bokuhamba endlini noma ukuthola ithoyizi lapho ukukhanya kuphansi kusihlwa.
- Kamuva: Njengoba lesi sifo siqhubeka, umbono ongaphandle uyalahleka. Lokhu kusho ukuthi ungabona ngqo phambili, kodwa hhayi emaceleni. Lokhu kubizwa nangokuthi 'umbono womhubhe' . Kuzwakala sengathi ubheka ngepayipi elide. Ekugcineni, lesi simo singaqhubekela ekubeni ubumpumputhe obuphelele.
- Izinkinga zokulinganisela: Izingane ezinesifo sohlobo 1, ikakhulukazi, zinobunzima bokugcina ibhalansi. Ngenxa yalokho, ziqala ukuhlala, ukuma, nokuhamba sekwephuzile kunezinye izingane.
Yini ebangela i-Usher Syndrome?
Lesi yisimo esibangelwa ufuzo ngokuphelele. Ake sikuqonde kalula lokhu.
Ukuze ingane ibe nalesi sifo, ingane kumele ithole isakhi sofuzo esingenaso isiqiniseko salesi sifo kumama nakubaba . Ngokwezokwelapha, lokhu kubizwa ngokuthi ifa le-autosomal recessive .
Ake sithi umama nobaba bobabili banalesi sakhi sofuzo esingasebenzi kahle, kodwa abanazo izimpawu. Sibabiza ngokuthi 'abathwali'. Nakhu okwenzekayo lapho abazali ababili benengane:
- Kukhona ithuba elingama-25% (elilodwa kwabane) lokuthi ingane izoqala ukuba nalesi sifo (uma bobabili abazali bezuza ifa lofuzo olunephutha).
- Kukhona ithuba elingama-50% (amabili kwamane) lokuthi ingane nayo izoba 'ngumthwali' ongenazimpawu (uma omunye umzali ezuza ifa lesakhi sofuzo esinephutha kanti omunye ezuza ifa lesakhi sofuzo esinempilo).
- Ingane inethuba elingu-25% (elilodwa kwabane) lokuba nempilo ephelele, ngaphandle kwalesi sifo noma isakhi sofuzo esingasebenzi kahle.
Lezi zinguquko zezakhi zofuzo zibangela ukuba amangqamuzana ezinzwa ku-cochlea, athwala amaza omsindo aye ebuchosheni, angasebenzi kahle, okubangela ukulahlekelwa ukuzwa. Futhi, izinguquko ezakhiweni zofuzo ezikhiqiza amangqamuzana azwela ukukhanya ku-retina yeso zibangela i-retinitis pigmentosa, ebangela ukulahlekelwa umbono.
Ungasithola kanjani lesi sifo?
Inqubo yokuxilonga lesi sifo ingahluka kuye ngezimpawu zomntwana kanye nobudala bakhe.
Ngokuvamile, kuzo zonke izibhedlela eSri Lanka, kwenziwa ukuhlolwa kokuzwa kosana olusanda kuzalwa. Uma udokotela esola ukuthi ingane inokukhubazeka kokuzwa, izothunyelwa ukuze ihlolwe okwengeziwe.
Uma ucabanga ukuthi ingane yakho inenkinga yokuzwa noma yokubona, kufanele ubonane nodokotela wezingane ngokushesha okukhulu. Uzoyihlola ingane bese eyithumela kochwepheshe uma kudingeka.
- Ukuhlolwa kokuzwa: Uchwepheshe wezindlebe, impumulo, nomphimbo (uchwepheshe we-ENT) kanye nodokotela wezindlebe benza izivivinyo ezahlukene zokuzwa ukuze bathole ukuthi ingane ingezwa kahle kangakanani nokuthi hlobo luni lwemisindo engayizwa.
- Ukuhlolwa kokubona: Udokotela wamehlo uzohlola amehlo engane ukuze ahlole izimpawu ze-retinitis pigmentosa ku-retina. Bazokwenza nokuhlolwa ukuze bahlole umbono ongaphandle.
- Ukuhlolwa kofuzo:Uma usola ukuthi une-Usher Syndrome ngokusekelwe ezimpawini zakho, indlela engcono kakhulu yokuqinisekisa ukuthi unesifo iwukuhlolwa kwezakhi zofuzo. Lokhu kungasiza futhi ekuboneni ukuguquka kwezakhi zofuzo okubangela lesi sifo.
Yiziphi izindlela zokwelapha kanye nezindlela zokuphatha lokhu?
Ngeshwa, ayikho ikhambi le-Usher Syndrome. Kodwa-ke, kunezindlela eziningi zokuphatha izimpawu nokwandisa ikhwalithi yokuphila kwengane. Izinhlelo zokwelapha ziyahlukahluka kuye ngengane, kuye ngesimo sayo.
- Ukufakelwa kwe-Cochlear: Lokhu kungaba usizo kakhulu ezinganeni ezizalwa zinokulahlekelwa okukhulu kokuzwa. Lena idivayisi kagesi efakwa ngokuhlinzwa endlebeni. Iqondisa amaza omsindo ngqo emthanjeni wokuzwa, okuvumela ingane ukuba ibone umhlaba womsindo.
- Izinsiza zokuzwa: Izinsiza zokuzwa zingasetshenziswa ezinganeni ezinenkinga yokuzwa ephakathi nendawo. Lezi zibaluleke kakhulu ezinganeni ezinesifo sohlobo 2 noma 3, ezivame ukulahlekelwa ukuzwa njengoba zikhula.
- Izinsiza zokubona: Kunezinhlobo ezahlukene zamadivayisi angasiza ekuphatheni izinkinga zokubona. Isibonelo, izibuko ezinamalensi akhethekile ahlunga ukukhanya, izibuko ezikhulisayo, njll.
- Izinsizakalo zokungenelela kusenesikhathi: Lokhu kubaluleke kakhulu . Uma isimo sitholakala kusenesikhathi empilweni yengane, izinsizakalo ezikhethekile ezidingayo zingaqalwa kusenesikhathi.
- Ukwelashwa ngenkulumo
- Ukufundisa ulimi lwezandla
- Ukufundisa i-Braille
- Izindlela zemfundo ekhethekile
- Ukuzivocavoca kwe-physiotherapy okuthuthukisa ibhalansi yomzimba
Konke lokhu kunikeza ingane amandla amakhulu okuthuthukisa amakhono ayo ngokugcwele nokubhekana nomphakathi ngempumelelo.
Imibuzo ebalulekile okufanele uyibuze udokotela wakho
Kuvamile ukuba nemibuzo eminingi uma ufunda ngesifo esingavamile kangaka. Ungakhohlwa ukubuza le mibuzo uma ubona udokotela wakho.
- Uhlobo luni lwe-Usher Syndrome ingane yami enalo?
- Yiziphi izindlela zokwelapha kanye nezindlela zokuphatha ozincomayo?
- Ingabe ingane yami izolahlekelwa umbono wayo ngokuphelele ngokuhamba kwesikhathi?
- Yibaphi ochwepheshe, abelaphi, noma izinhlangano ezingasiza ingane yami ngalesi simo?
- Ingabe thina (abazali) singahlola ukuze sibone ukuthi sinazo yini izakhi zofuzo ezihlobene nalokhu?
Khumbula, kubaluleke kakhulu ukuxoxa ngazo zonke izinkinga zakho nodokotela wakho bese uzixazulula, kunokuba wesabe futhi ukhathazeke.
Njengomzali, ungase uzizwe sengathi udlula kulolu hambo wedwa. Kodwa khumbula, awuwedwa. Ungathola nokusekelwa kodokotela bengane yakho, abelaphi, othisha, kanye nabanye abazali abaye babhekana nento efanayo. Ngokuphathwa okufanele nokunakekelwa ngothando, ingane ene-Usher Syndrome ingaphila impilo ejabulisayo nephumelelayo njenganoma iyiphi enye.
Umlayezo Wokuya Nawe Ekhaya
- I-Usher Syndrome iyisifo esingavamile sofuzo esizuzwa kubazali esithinta ukuzwa, ukubona, futhi ngezinye izikhathi ibhalansi.
- Kunezinhlobo ezintathu eziyinhloko zalesi sifo (Uhlobo 1, 2, no-3), futhi isikhathi sokuqala kwezimpawu kanye nobunzima bazo kuyahlukahluka kuye ngohlobo.
- Kubaluleke kakhulu ukufuna iseluleko sezokwelapha ngokushesha uma ubona noma yiziphi izinguquko ekuzweni noma ekuboneni kwengane yakho. Ukuthola lesi sifo kusenesikhathi kuyasiza kakhulu ekulawuleni.
- Nakuba lokhu kungelapheki ngokuphelele, izifakelo ze-cochlear, izinsiza zokuzwa, izinsiza ezibonakalayo, kanye nezinsizakalo ezahlukene zokwelapha kungathuthukisa kakhulu ikhwalithi yokuphila kwengane.
- Ngokuhlala uxhumana nethimba lakho lezokwelapha futhi unikeze ingane yakho ukwesekwa nothando eludingayo ngaphansi kwesiqondiso sayo, ungamvulela indlela yokuba iphile impilo ephumelelayo.
💬 Comments (0)
Awekho amazwana athunyelwe okwamanje. Faka amazwana akho lapha okokuqala ngqa.
Engeza amazwana akho