Ngaba umntwana wakho uneengxaki zokuva nokubona? Masithethe nge-Usher Syndrome!

Ngaba wakha waphawula ukuba umntwana wakho akakwazi ukuva kakuhle? Mhlawumbi uqale ukuhamba emva kwexesha kunabanye abantwana? Emva koko, njengoko ekhula, ngaba uyaphawula ukuba unengxaki yokubona ekukhanyeni okuphantsi ebusuku? Ukuba kukho iingxaki ezingaphezu kwenye, unobangela usenokuba wahlukile kunokuba ucinga. Namhlanje sithetha ngemeko engaqhelekanga echaphazela zontathu ezi zinto ngaxeshanye: ukuva, ukubona, kwaye ngamanye amaxesha ukulinganisela, kodwa akuthethwa kangako ngayo kuluntu. Oku kubizwa ngokuba yi-Usher Syndrome.

Yintoni kanye kanye i-Usher Syndrome?

Ngamafutshane, i-Usher syndrome yimeko ezuzwe njengelifa. Ibangela kakhulu ukulahleka kokuva, ukulahleka kokubona, kunye neengxaki zokulinganisela kwabanye abantu. Yicinge njengesicwangciso sendlela imizimba yethu eza kukhula ngayo. Le meko ibangelwa lutshintsho oluncinci kakhulu kwezi jini, olubizwa ngokuba yi-mutation. Ngenxa yolu tshintsho lwezakhi zofuzo, amalungu anxulumene nokuva kunye nokubona awakhuli kakuhle ngelixa umntwana ekhula esibelekweni.

Iimpawu zale meko zihlala zikhona xa umntwana ezalwa (ezalwa) okanye ziqale ukubonakala ebuntwaneni. Amaxesha amaninzi, iimpawu zinokubonakala xa umntwana emdala. Okwangoku akukho nyango lwale meko. Kodwa ungakhathazeki. Zininzi iindlela zokulawula ezi mpawu nokunceda umntwana wakho aphile ubomi obulungileyo.

Ngaba kukho iintlobo ezahlukeneyo zezi?

Ewe, kukho malunga ne-10 iinguqu zemfuza ezaziwayo ezibangela oku. I-Usher syndrome yahlulwe yaba ziintlobo ezintathu eziphambili, kuxhomekeke kwindlela ezi gene ezidityaniswe ngayo. Zonke ezi ntlobo zinokubangela iingxaki zokuva, ukubona, kunye nokulinganisela. Kodwa umahluko omkhulu phakathi kwazo lixesha apho iimpawu ziqala khona kunye nobunzima bazo.

Ukuze kube lula ukuqonda, makhe sijonge oku kwitheyibhile .

Esi asiyongxaki ixhaphakileyo eSri Lanka. Sichaphazela abantu abaphakathi kwaba-3 naba-6 kwi-100,000 kwihlabathi liphela.

Ziziphi iimpawu eziphambili zale meko?

Ngoku masithethe ngezi mpawu ngokweenkcukacha ezithe vetshe.

• Ukulahlekelwa kukuva: Abanye abantwana banokuzalwa bengeva okanye bengeva kakuhle. Kwabanye, ukuva kwabo kuyehla kancinci kancinci njengoko bekhula.

• Ukulahlekelwa kukubona: Oku kubangelwa yimeko ebizwa ngokuba yiRetinitis Pigmentosa (RP) . Ngamafutshane, kukutshatyalaliswa kancinci kancinci kweeseli ezibona ukukhanya (iirodi kunye neekhowuni) kwi-retina yamehlo ethu.
• Uphawu lokuqala: ukungaboni ebusuku. Ukungakwazi ukubona izinto ngokucacileyo kwiimeko ezikhanyisiweyo, njengasebusuku.
• Inqanaba elilandelayo: Ukuncitshiswa kwendawo yokubona (umbono we-tunnel). Kufana nokujonga kwi-tunnel, unombono othe ngqo kuphela kwaye ungenawo umbono ongaphandle. Ekuhambeni kwexesha, le meko inokuba nzima kwaye ikhokelele ekubeni yimfama ngokupheleleyo.

• Imiba yokulinganisela: Oku kuchaphazela ngakumbi abantwana abanohlobo loku-1. Iindawo zendlebe yethu yangaphakathi ezinceda ekulawuleni ukulinganisela kwethu zonakele. Le meko inokubangela ukuba ezi ndawo zonakale. Yiyo loo nto aba bantwana bethatha ixesha ukufunda ukuhamba. Basenokuziva ngathi bahlala bewa.

Kutheni oku kusenzeka? Yintoni unobangela?

Njengoko besixoxile ngaphambili, le yimeko yemfuza ngokupheleleyo. Le pateni yelifa ibizwa ngokuba yi-autosomal recessive pattern . Oku kuthetha ukuba ukuze umntwana abe nale meko, umntwana kufuneka azuze i-gene enesiphene kumama nakutata .

Khawucinge nje, ukuba umntwana ufumana i-gene enesiphene kumama kuphela kwaye i-gene ephilileyo ifumaneke kuyise, umntwana akayi kuba nesifo. Kodwa umntwana uya kuba ngumthwali we-gene enesiphene. Nangona engayi kuba nazimpawu, unokudlulisela i-gene kubantwana bakhe.

Ndingafumanisa njani ukuba ndinale meko?

Indlela yokuxilonga iyahluka ngokuxhomekeke kwiimpawu zomntwana kunye nohlobo lwakhe.

Khawucinge nje, ukuba umntwana wakho ufunyaniswe enengxaki yokuva ngexesha lokuhlolwa kokuva kosana olusandul’ ukuzalwa esibhedlele emva nje kokuzalwa, oogqirha baya kwenza olunye uvavanyo ukuphanda ingxaki. Emva koko, ukuba bayayirhanela i-Usher syndrome, banokucebisa uvavanyo lwemfuza .

Ukuba umntwana wakho ubonisa iingxaki zokuva okanye ukubona njengoko ekhula, ugqirha wakho wosapho (ugqirha wabantwana) uza kukuthumela kwiingcali.

• Uvavanyo lokuva: Ingcali ye-otolaryngologist kunye nengcali ye-audiologist basebenzisana ukwenza uvavanyo olwahlukeneyo ukuze kuchongwe inqanaba lokuva komntwana.
• Uvavanyo lokubona: Ingcali yamehlo iya kuhlola amehlo omntwana, ingakumbi ukujonga umonakalo kwi-retina, njenge-retinitis pigmentosa. Baya kwenza novavanyo lokulinganisa umbono ongaphandle.

Zithini iindlela zonyango zoku?

Nangona le meko ingenakunyangwa ngokupheleleyo, zininzi izinto onokuzenza ukulawula iimpawu. Oogqirha baceba unyango olusekelwe kwimeko yomntwana, ubudala bakhe, kunye nobunzima beempawu zakhe.

• Ii-Cochlear implants: Abantwana abazalwa benengxaki yokuva kakhulu banokuncedwa ukuba beve izandi ngesi sixhobo, esifakwe ngotyando endlebeni engaphakathi.
• Izixhobo zokuva: Ezi ziluncedo kakhulu kubantwana abanengxaki yokuva ephakathi.
• Izixhobo zokunceda ukubona: Iiglasi ezineelensi ezikhethekileyo ezihluza ukukhanya, kunye nezixhobo zokukhulisa zingasetyenziswa.
• Iinkonzo zokungenelela kwangethuba: Oku kubaluleke kakhulu. Ukuqala unyango lokuthetha, i-physiotherapy, kunye noqeqesho lolwimi lwezandla emncinci kunokunceda kakhulu ekuphuhliseni umntwana.

Imibuzo ebalulekileyo yokubuza ugqirha wakho

Kuqhelekile ukuba nemibuzo emininzi xa ufumanisa ngesi sifo singaqhelekanga. Musa ukoyika okanye ungathandabuzi ukuxoxa ngayo yonke le nto nogqirha wakho. Nazi ezinye zemibuzo onokuyibuza:

• "Zingaphi iintlobo ze-Usher syndrome umntwana wam anazo?"
• "Ucebisa luphi unyango?"
• "Ingaba kunokwenzeka ukuba umntwana wam alahlekelwe yimbono yakhe ngokupheleleyo ekuhambeni kwexesha?"
• "Ndingavavanywa na ukuze kubonwe ukuba mna okanye iqabane lam sinazo na iinguqu zemfuza ezibangela oku?"

Ukubona kwethu, ukuva, kunye nokulinganisela zezona zivamvo ziphambili esizisebenzisayo ukusebenzisana nehlabathi. Ngoko ke njengomzali, kuyinto eqhelekileyo ukuziva ukhathazekile, ulusizi, kwaye usoyika xa ufumanisa ukuba umntwana wakho ulahlekelwa zezi zinto. Kodwa khumbula, awuwedwa. Kukho unyango oluninzi, iinkonzo zenkxaso, kunye neenkqubo ezinokunceda umntwana wakho. Ugqirha wakho kunye neqela lakho lezonyango baya kuziqonda iimvakalelo zakho kwaye bakunike ulwalathiso olufunayo.