Wake waphawula ukuthi ukuzwa kwengane yakho encane kuyaphazamiseka kancane? Mhlawumbe iqale ukuhamba sekwephuzile kunezinye izingane? Bese kuthi, njengoba ikhula, ingabe uyaphawula ukuthi inenkinga yokubona ekukhanyeni okuncane ebusuku? Uma kunezinkinga ezingaphezu kweyodwa, imbangela ingase ihluke kunalokho ocabanga. Namuhla sikhuluma ngesimo esingavamile esithinta zonke lezi zinto ezintathu ngesikhathi esisodwa: ukuzwa, ukubona, kanye nokulinganisela ngezinye izikhathi, kodwa akukhulunywa kakhulu ngakho emphakathini. Lokhu kubizwa ngokuthi i-Usher Syndrome.
Iyini ngempela i-Usher Syndrome?
Kalula nje, i-Usher syndrome iyisimo esizuzwe njengefa. Ngokuyinhloko ibangela ukulahlekelwa ukuzwa, ukulahlekelwa umbono, kanye nezinkinga zokulinganisela kwabanye abantu. Cabanga ngayo njengohlaka lwendlela imizimba yethu ezokhula ngayo. Lesi simo sibangelwa ushintsho oluncane kakhulu kulezi zakhi zofuzo, olubizwa ngokuthi ukuguqulwa kofuzo. Ngenxa yalolu shintsho lofuzo, izitho ezihlobene nokuzwa kanye nokubona azikhuli kahle ngenkathi umntwana ekhula esibelethweni.
Izimpawu zalesi simo zivame ukuba khona lapho kuzalwa (ekuzalweni) noma ziqale ukubonakala ebuntwaneni. Akuvamile kakhulu, izimpawu zingabonakala lapho umuntu emdala. Okwamanje akukho ukwelashwa kwalesi simo. Kodwa ungakhathazeki. Kunezindlela eziningi zokuphatha lezi zimpawu nokusiza ingane yakho iphile impilo enhle.
Ingabe kunezinhlobo ezahlukene zalokhu?
Yebo, kunezinhlobo ezingaba yi-10 zofuzo ezaziwayo ezibangela lokhu. I-Usher syndrome ihlukaniswe ngezinhlobo ezintathu eziyinhloko, kuye ngokuthi lezi zakhi zofuzo zihlanganiswa kanjani. Zonke lezi zinhlobo zingabangela izinkinga zokuzwa, ukubona, kanye nokulinganisela. Kodwa umehluko omkhulu phakathi kwazo isikhathi lapho izimpawu ziqala khona kanye nobunzima bazo.
Ukuze kube lula ukuqonda, ake sibheke lokhu etafuleni .
| Uhlobo | Izinkinga zokuzwa | Izinkinga zokulinganisela | Izinkinga zokubona |
|---|---|---|---|
| Uhlobo 1 | Ukuzwa kabi noma ukuzwa ngokuphelele ngesikhathi sokuzalwa. | Iba khona lapho izalwa. Lokhu kubangela ukubambezeleka kokuqala ukuhamba. | Kuqala ebuntwaneni. Ekuqaleni, ukubona ebusuku kuyancipha, kodwa kuya kuba kubi ngokuhamba kwesikhathi. |
| Uhlobo 2 | Ukulahlekelwa ukuzwa okulinganiselwe noma okukhulu ngesikhathi sokuzalwa. | Cha. Ibhalansi yabo ijwayelekile. | Ngokuvamile kuqala ebantwaneni abasebasha. Ukubona kuya kuba buthaka ngokuhamba kwesikhathi. |
| Uhlobo 3 | Ukuzwa kuyinto evamile ekuzalweni. Ukuzwa kuqala ukwehla kancane kancane ebuntwaneni . | Cishe ingxenye yabantu abanalolu hlobo bangase babe nezinkinga zokulinganisela. | Ukubona kuyinto evamile lapho umuntu ezalwa. Ukubona kuqala ukuncipha lapho umuntu esemncane noma eseneminyaka ephakathi kwengu-19 . |
Lesi akusona isimo esivamile kakhulu eSri Lanka. Sithinta abantu abaphakathi kuka-3 no-6 kubantu abayi-100,000 emhlabeni jikelele.
Yiziphi izimpawu eziyinhloko zalesi simo?
Ake sixoxe ngalezi zimpawu ngokuningiliziwe.
- Ukulahlekelwa ukuzwa: Abanye abantwana bangazalwa beyizithulu noma benokuzwa okubuthakathaka kakhulu. Kwabanye, ukuzwa kwabo kuqala ukwehla kancane kancane njengoba bekhula.
- Ukulahlekelwa umbono: Lokhu kubangelwa yisimo esibizwa ngokuthi i-Retinitis Pigmentosa (RP) . Kalula nje, ukubhujiswa kancane kancane kwamangqamuzana azwela ukukhanya (izinduku nama-cone) ku-retina yamehlo ethu.
- Uphawu lokuqala: ubumpumputhe basebusuku. Ukungakwazi ukubona izinto ngokucacile ezimweni eziphansi, njengasebusuku.
- Isigaba esilandelayo: Ukuncipha kwensimu yokubona (umbono womhubhe). Kufana nokubuka emhubheni, unombono oqondile kuphela futhi ungenawo umbono ongaphandle. Ngokuhamba kwesikhathi, lesi simo singaba sibi kakhulu futhi siholele ekungabonini ngokuphelele.
- Izinkinga zokulinganisela: Lokhu kuthinta kakhulu izingane ezinesifo sohlobo 1. Izingxenye zendlebe yethu yangaphakathi ezisiza ekulawuleni ibhalansi yethu zonakele. Lesi simo singabangela ukuthi lezi zingxenye zonakale. Yingakho lezi zingane zithatha isikhathi ukufunda ukuhamba. Zingase zizwe sengathi ziyawa njalo.
Kungani lokhu kwenzeka? Iyini imbangela?
Njengoba sixoxile ngaphambili, lesi yisimo sofuzo ngokuphelele. Le ndlela yofuzo ibizwa ngokuthi i-autosomal recessive pattern . Lokhu kusho ukuthi ukuze ingane ibe nalesi simo, ingane kumele izuze ifa le-gene elingalungile kumama nakubaba .
Cabanga nje, uma ingane izuza ifa lofuzo olunephutha kumama kuphela kanye nefa lofuzo elinempilo kuyise, ingane ngeke ithole lesi sifo. Kodwa ingane izoba ngumthwali wofuzo olunephutha. Ngisho noma ingeke ibe nezimpawu, ingadlulisela ifa lofuzo kubantwana bayo.
Kalula nje, uma bobabili abazali bengabathwali balesi sakhi sofuzo, kunethuba elingu-1 kwangu-4 (25%) lokuthi ingane yabo izoba nalesi simo njalo lapho ikhulelwa. Kunethuba elingu-2 kwangu-4 (50%) lokuthi ingane izoba yimthwali. Kunethuba elingu-1 kwangu-4 (25%) lokuthi ingane izozalwa iphilile ngaphandle kweziphambeko.
Ngingathola kanjani ukuthi nginalesi simo?
Indlela yokuxilonga iyahlukahluka kuye ngezimpawu zengane kanye nohlobo lwayo.
Cabanga nje, uma ingane yakho itholakala inokukhubazeka kokuzwa ngesikhathi sokuhlolwa kokuzwa kosana okwenziwa esibhedlela ngemuva nje kokuzalwa, odokotela bazokwenza ezinye izivivinyo ukuze baphenye inkinga. Ngemuva kwalokho, uma besola i-Usher syndrome, bangase batuse ukuhlolwa kwezakhi zofuzo .
Uma ingane yakho ibonisa izinkinga zokuzwa noma zokubona ngemva kokuba isikhulile kancane, udokotela womndeni wakho (udokotela wezingane) uzokudlulisela kochwepheshe.
- Ukuhlolwa kokuzwa: Udokotela we-otolaryngologist kanye nodokotela we-audiologist basebenzisana ukwenza izivivinyo ezahlukene ukuze kutholakale izinga lokuzwa kwengane.
- Ukuhlolwa kokubona: Udokotela wamehlo uzohlola amehlo engane, ikakhulukazi ukuhlola umonakalo ku-retina, njenge-retinitis pigmentosa. Bazokwenza nokuhlolwa kokulinganisa umbono ongaphandle.
Yiziphi izindlela zokwelapha lokhu?
Nakuba lesi simo singelapheki ngokuphelele, kunezinto eziningi ongazenza ukuze uphathe izimpawu. Odokotela bahlela ukwelashwa ngokusekelwe esimweni sengane, ubudala, kanye nobunzima bezimpawu.
- Ukufakelwa kwe-Cochlear: Izingane ezizalwa zilahlekelwe kakhulu ukuzwa zingasizwa ukuzwa imisindo ngale divayisi, efakwa ngokuhlinzwa endlebeni engaphakathi.
- Izinsiza-kuzwa: Lezi ziwusizo kakhulu ezinganeni ezinenkinga yokuzwa ephakathi nendawo.
- Izinsiza zokubona: Izibuko ezinamalensi akhethekile ahlunga ukukhanya, kanye namadivayisi okukhulisa zingasetshenziswa.
- Izinsizakalo zokungenelela kusenesikhathi: Lokhu kubaluleke kakhulu. Ukuqala ukwelashwa kokukhuluma, i-physiotherapy, kanye nokuqeqeshwa kolimi lwezandla esemncane kungasiza kakhulu ekukhuleni kwengane.
Imibuzo ebalulekile okufanele uyibuze udokotela wakho
Kuvamile ukuba nemibuzo eminingi uma uthola ngalesi simo esingavamile. Ungesabi noma ungabaze ukuxoxa ngakho konke lokhu nodokotela wakho. Nansi eminye imibuzo ongayibuza:
- "Zingaki izinhlobo ze-Usher syndrome ingane yami enazo?"
- "Yiziphi izindlela zokwelapha ozincomayo?"
- "Kungenzeka yini ukuthi ingane yami izolahlekelwa umbono wayo ngokuphelele ngokuhamba kwesikhathi?"
- "Ngingahlolwa yini ukuze kubonakale ukuthi mina noma umlingani wami sinazo yini izinguquko zofuzo ezibangela lokhu?"
Ukubona kwethu, ukuzwa, kanye nokulinganisela kuyizinto ezintathu eziyinhloko esizisebenzisayo ukuze sisebenzisane nomhlaba. Ngakho-ke njengomzali, kungokwemvelo ukuzizwa ukhathazekile, udabuke, futhi wesaba lapho uthola ukuthi ingane yakho ilahlekelwa yilezi zinto. Kodwa khumbula, awuwedwa. Kunezindlela eziningi zokwelapha, izinsizakalo zokusekela, kanye nezinhlelo ezingasiza ingane yakho. Udokotela wakho kanye nethimba lakho lezokwelapha bazoqonda imizwa yakho futhi bakunikeze isiqondiso osidingayo.
Umlayezo Wokuya Nawe Ekhaya
- I-Usher Syndrome yisimo sofuzo esithinta ukuzwa, ukubona, futhi ngezinye izikhathi ibhalansi.
- Kunezinhlobo ezintathu eziyinhloko zalokhu, futhi isikhathi sokuqala kanye nobukhali bezimpawu kuyahlukahluka ngokufanele.
- Nakuba kungekho ikhambi eliphelele lalokhu, izifakelo ze-cochlear, izinsiza zokuzwa, kanye nezinsizakalo ezahlukene zokusekela kungasiza ekulawuleni izimpawu nasekuphileni impilo enhle.
- Ukuhlonza lesi sifo kusenesikhathi nokuqala ukuqeqeshwa nokwelashwa okudingekayo kubaluleke kakhulu ekusaseni lengane.
- Uma usola ukuthi ingane yakho inalesi simo, bona udokotela womndeni wakho ngokushesha bese uthola i-referral kudokotela ochwepheshe. Ungesabi ukubuza udokotela wakho yonke imibuzo yakho.
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