Ngaba ukhathazekile malunga nokubona komntwana wakho omncinci? Masifunde ngeNorrie Disease.

Sivuya kakhulu xa sijonga amehlo osana olusandul’ ukuzalwa, akunjalo? Kodwa ngamanye amaxesha, sinokuba nemibuzo embalwa yokuba kukho into engalunganga ngaloo mehlo. Namhlanje siza kuthetha ngemeko engaqhelekanga ebizwa ngokuba yi-'Norrie Disease', engachaphazeli kuphela umbono womntwana, kodwa nezinye izinto ezininzi. Musa ukoyika xa usiva oku, masikuqonde ngokulula.

Yintoni isifo sikaNorrie? Ngamafutshane...

Isifo sikaNorris sisifo samehlo esibangelwa lufuzo . Kule meko, inxalenye yeliso lomntwana ebizwa ngokuba yi-retina, kunye nemithambo yegazi edibana nayo, ayikhuli kakuhle. Ubusazi na ukuba i-retina yimaleko encinci ngasemva kwamehlo ethu esebenza njengefilimu ekwikhamera. Yile nto ibona ukukhanya nombala kwaye ithumela imiyalezo engqondweni, apho sibona khona.

Kumntwana onesifo sikaNorris, i-retina ayikhuli kakuhle, ngoko ke inokubangela ukuphuma kweliso. Oku kunokubangela ukopha ngaphakathi kweliso. Oku kubangela ukuba i-retina ibe yi-fibrous kwaye ingakwazi ukusebenza kakuhle. Kwiimeko ezininzi, le meko inokubangela ukuba umntwana abe yimfama ngokupheleleyo ekuzalweni okanye kwiinyanga ezimbalwa zokuqala zobomi. Nangona ezinye iintsana zinokubona ukukhanya ekuzalweni, uninzi lulahlekelwa kukubona kwelinye okanye omabini amehlo ekuzalweni.

Into ebalulekileyo kukuba olu tshintsho lwemfuza oluchaphazela umbono lunokuchaphazela nolunye uphuhliso lomzimba kumntwana. Ke ngoko, isifo sikaNorrie asipheleli nje ekulahlekelweni kombono.

Ziziphi ezinye iimpawu ezinokubonwa kwisifo sikaNorrie?

Ukulahlekelwa yimbono luphawu oluphambili. Nangona kunjalo, iintsana ezinesifo sikaNorrie nazo zinokufumana oku kulandelayo:

• Ukuphazamiseka kokuva: Isifo sikaNorris sinokuchaphazela nophuhliso lwendlebe yangaphakathi. Ke ngoko, ukulahlekelwa kukuva okuncinci kunokuqala ebuntwaneni kwaye kukhule kancinci kancinci. Usenokuba nokurhawuzelelwa ezindlebeni (i-tinnitus). Abanye abantu basenokuba nokuva okunciphileyo xa beneminyaka engama-35 ubudala.
• Utshintsho kwindlela yokuziphatha: Le meko inokuchaphazela nendlela yokuziphatha komntwana. Umzekelo, imeko ebizwa ngokuba yi-"Pseudobulbar affect" (ubunzima bokulawula ukuhleka nokukhala) ibonwa kumntu omnye kwabane abane-Norris syndrome.
• Ukulibaziseka kokukhula: Ezinye iintsana nabantwana banokuthatha ixesha elide ukufikelela kwimigangatho yokukhula efana nokuhlala phantsi nokuhamba.
• Ingxaki ye-Autism spectrum: Malunga nomntu omnye kwabane abane-Norris syndrome unokubonakalisa iimpawu ze-autism.
• Izifo zokuxhuzula: Nangona zingaqhelekanga njengezinye izifo, umntu omnye kwabalishumi unokuba neengxaki zokuxhuzula.
• Isifo semithambo yegazi ejikeleze imithambo yegazi:Abanye abantu banokuba neengxaki zokujikeleza kwegazi, njengezilonda zemithambo yegazi.

Kubalulekile: Ayizizo zonke iintsana eziya kuba nazo zonke ezi mpawu. Kwanabantwana abakwintsapho enye banokuba neempawu ezahlukeneyo. Ke ngoko, umntwana ngamnye ufuna ukunyanyekelwa ngabanye.

Ixhaphake kangakanani iNorovirus? Ngubani oyifumanayo?

Isifo sikaNorris sisifo esingaqhelekanga kakhulu. Sichaphazela malunga nomntu omnye kwisigidi.

Oku kuchaphazela kakhulu abafana. Amantombazana awafane achaphazeleke sesi sifo. Nokuba kunjalo, iimpawu zincinci kakhulu. Asikuko ukuba sichaphazela naluphi na uhlanga okanye uhlanga.

Ziziphi iimpawu ugqirha azibonayo kwisifo sikaNorrie?

Ngexesha lokuhlolwa kwamehlo, ugqirha wamehlo unokubona iimpawu ezininzi ezinxulumene nesifo sikaNori. Ezi ziquka:

• Isiqwenga esimthubi-ngwevu ngasemva kweliso (i-Pseudoglioma). Oku kubangelwa yi-retina engakhulanga kakuhle.
• Ukuqhekeka kwe-retina.
• Ukumhlophe kwe-cornea yeliso (iLeukocoria).
• Isangqa esimnyama esisesweni sikhulile.
• Iris hypoplasia kukungaphuhli kakuhle kwe-iris.
• I-cataract inamathele kwilensi okanye kwi-cornea.
• Amehlo amancinci kunobukhulu obuqhelekileyo (iMicrophthalmia).
• Uxinzelelo oluphezulu lwangaphakathi kweso. Oku kunokubangela iintlungu zamehlo.
• Ukopha kwegazi emzimbeni.
• Ukufiphala kwelensi yeliso (i-cataract).
• Ukushwabana kweliso ngaphandle kokubona `(Phthisis bulbi)`.

Azibonakali zonke ezi mpawu ngaxeshanye. Ezinye zinokubonakala xa umntwana ezalwa, ngelixa ezinye zinokubonakala emva kweenyanga okanye iminyaka.

Ziziphi iimpawu umntwana azibonayo?

Iimpawu zesifo sikaNorris zinokwahluka kakhulu ngokuxhomekeke kuhlobo lwesifo. Iintlungu zamehlo luphawu oluqhelekileyo kwezinye iintsana ngenxa yoxinzelelo oluphezulu ngaphakathi kweliso, kodwa oku akuqhelekanga kakhulu. Ngamanye amaxesha, i-calcium deposits kwi-cornea yeliso (band keratopathy) inokubangela iintlungu kunye nokungonwabi. Ugqirha wamehlo womntwana wakho uya kujonga rhoqo uxinzelelo elisweni lakhe.

Ezinye iimpawu zinokunxulunyaniswa nokulahlekelwa kukuva kunye nezinye iimeko ezinxulumene noko. Thetha neqela lezonyango lomntwana wakho ukuze ufumane ukuba zeziphi iimpawu ekufuneka uzixhalabise ngazo.

Yintoni ebangela isifo sikaNorrie?

Isifo sikaNorris sibangelwa kukuguquka kwezakhi zofuzo . Izakhi zofuzo ezithile ezichaphazela oku yizakhi zofuzo ze-NDP. Le zakhi zofuzo ze-NDP ziyalela umzimba wethu ukuba wenze iproteni ebizwa ngokuba yiNorrin. Le proteni yeNorrin ibaluleke kakhulu ekuboniseni iiseli kunye nokuchonga iiseli. Ngokukodwa, iNorrin inceda i-retina yethu ukuba ikhule ngokufanelekileyo. Ikwanceda ekwakhiweni kwemithambo yegazi ehambisa igazi kwi-retina nakwiindawo zendlebe (i-Angiogenesis).

Xa kukho utshintsho kwi-gene ye-`NDP`, iproteni yeNorrin ayisebenzi kakuhle. Olu tshintsho lwe-genetic lunokubangela izifo ezahlukeneyo zamehlo ze-genetic. Isifo seNorrin sesona sibi kakhulu kuzo.

Isifo sikaNorrie sizuzwa njani njengelifa?

Le gene itshintshiweyo ye-'NDP' ikwi -chromosome ye-X . Njengoko usazi, u-X no-Y zii-chromosomes ezimbini zesini. Kukho iipatheni ezahlukeneyo zokufumana izifo ezidluliselwa kwilifa. Isifo sikaNorrie sizuzwe njengelifa kwipatheni ye-X-linked recessive .

Ezi meko zizuzwe njengelifa zihlala zichaphazela abafana. Amantombazana awachaphazeleki rhoqo. Oku kungenxa yokuba abafana bane-chromosome enye kuphela eyi-X. Ngenxa yoko, basenokuba bazuze i-gene enye etshintshileyo ebangela esi sifo.

Ukuba umama ungumthwali wale jini itshintshileyo (oko kuthetha ukuba unale jini kwenye yeekromosomu zakhe ezimbini ze-X, kodwa akanazo iimpawu, kuba yonke into isebenza kakuhle ngenxa yejini esempilweni kwenye ikromosomu ye-X), kukho ithuba elingama-50% lokuba nawuphi na umntwana oyinkwenkwe amzalayo uza kuzuza njengelifa isifo sikaNorrie. Umntwana oyinkwenkwe akasizuzi esi sifo kuyise.

Isifo sikaNorrie sifunyanwa njani?

Ingcali yamehlo ixilonga isifo saseNorwich ngolu hlobo lulandelayo:

• Ngokwenza uvavanyo lwamehlo olupheleleyo novavanyo lomzimba .
• Ngokwazi imbali yempilo yosapho lomntwana wakho.
• Ngokuyalela uvavanyo lwemfuza .

Iingcali zamehlo kufuneka zahlule kwaye zixilonge isifo sikaNori kwezinye iimeko ezineempawu ezifanayo, ezinje:

• `I-Retinoblastoma` (isimila esinomhlaza esikhula kwi-retina)
• `I-retinopathy yokukhulelwa ngaphambi kwexesha` (uphuhliso olungalunganga lwemithambo yegazi ehambisa igazi kwi-retina kwiintsana ezisandula kuzalwa ngaphambi kwexesha)
• "Imithambo yegazi engapheliyo yemveku"
• `Isifo seCoats`

Kukho ezinye izifo ze-vitreoretinopathy ezibuthathaka, ezingadibaniyo ne-X (`(Familial exudative vitreoretinopathies)`) ezinxulumene nesifo sikaNorrie.

Ngamanye amaxesha, inokubonwa ngexesha lokukhulelwa ngovavanyo olufana ne-"Amniocentesis". Oku kwenzeka ukuba kukho umntu kusapho lwakhe oye waba nesifo sikaNorrie, okanye ukuba umama waziwa ngokuba ngumthwali we-"NDP" yotshintsho lwezakhi zofuzo.

Ziziphi iindlela zonyango zesifo sikaNorrie?

Iintsana ezinesifo sikaNorrie zifuna unyango oluhambelana neemfuno zazo. Iindlela zonyango zingabandakanya:

• Utyando: Utyando lwenziwa ukuze kujongwe iimeko ezithile, ezifana ne-cataracts. Ezi zinokunceda ukuthintela amehlo omntwana ukuba anganciphi kwaye zinciphise iintlungu. Nangona kunjalo, ukubona akunakubuyiselwa. Amaxesha amaninzi, abantwana bazalwa bene-retina ehlukanisiweyo kwaye banokubona ukukhanya. Kwiimeko ezinjalo, utyando lunokunceda ukugcina loo mandla.
• Izixhobo zokuncedisa ukuva: Ezi zinceda abantwana, ulutsha kunye nabantu abadala ukuba beve izandi ngcono. Zibaluleke kakhulu kumntu onengxaki yokuva ukuze aqhagamshelane nehlabathi.
• I-Cochlear implant: Oku kukunceda uve amagama nezinye izandi ngokucacileyo.

Njengoko umntwana wakho ekhula, uya kufuna ukhathalelo oluqhubekayo kunye nolawulo. Oku kuya kufuna iqela leengcali ezahlukeneyo:

• Iingcali zezingane
• Iingcali zemfuza
• Iingcali zamehlo
• Iingcali zendlebe
• Iingcali zonyango lwentetho

Umntwana wakho angazuza nakwiinkonzo zenkxaso yemfundo. Kubalulekile ukuthetha nolawulo lwesikolo somntwana wakho ukuze ufumane ukuba zeziphi izixhobo ezikhoyo.

Liyintoni ikamva labantu abanesifo iNorrie?

Uninzi lwabantu abanesifo sikaNorris baba ziimfama ngokupheleleyo (abakwazi ukubona ukukhanya) kwiinyanga ezili-12 zokuqala zobomi. Malunga nomntu omnye kwabahlanu unokubona ukukhanya emva kweminyaka emi-3 ubudala.

Ikamva lomntwana wakho ixesha elide lixhomekeke kwizinto ezininzi, kuquka ukuba zeziphi iimpawu zesifo ezimchaphazelayo kunye nokuba zinzima kangakanani. Iqela lezonyango lomntwana wakho ngumthombo ongcono wolwazi malunga nendlela isifo saseNorwich esimchaphazela ngayo umntwana wakho kunye nendlela onokubanceda ngayo bazive bebhetele.

Ngaba iNorovirus ingathintelwa?

I-Norovirus ayinakuthintelwa. Ukuba kukho umntu kusapho lwakho one-Norovirus okanye ezinye izifo zamehlo ezizalwa nazo, kungcono ucinge ngengcebiso ye-genetic ngaphambi kokuba ukhulelwe. Umcebisi we-genetic unokucebisa uvavanyo lwe-genetic ukuze kufunyaniswe ukuba ungumthwali we-NDP gene mutation. Olu tshintsho lunokubangela ukuba umntwana wakho abe nezifo ezahlukeneyo zamehlo ezibangelwa yi-genetic, kuquka i-Norovirus.

Ndingamnyamekela njani umntwana wam?

Iqela lezonyango lomntwana wakho liza kukuxelela indlela engcono yokunyamekela umntwana wakho ekhaya. Iimfuno zomntwana ngamnye ziyahluka ngokuxhomekeke kwiminyaka yakhe kunye neempawu zakhe. Apha ngezantsi kukho iingcebiso ezibanzi ezinokunceda umntwana wakho afikelele kumandla akhe apheleleyo.

Qiniseka ukuba umsa umntwana wakho kugqirha.

Umntwana wakho uza kuba neentlanganiso ezininzi neengcali ezahlukeneyo. Ezi ntlanganiso zibalulekile ukuqinisekisa ukuba umntwana wakho ufumana unyango oluhambelana neemfuno zakhe.

• Uvavanyo lwamehlo lonyaka: Nokuba umntwana wakho uphelelwe lithemba, kubalulekile ukubona ugqirha wamehlo kube kanye ngonyaka. Oku kuya kunceda umntwana wakho abone ukuba kukho naziphi na iingxaki ezibangela intlungu yamehlo kwaye kucetyiswe unyango ukuba kuyimfuneko.
• Ukuhlolwa kweendlebe rhoqo kwiinyanga ezi-6 ukuya kwezili-12: Ngokujonga rhoqo ukuva komntwana wakho, ungafumana unyango xa kufuneka. Ingcali ye-audiologist inokufumanisa ukulahleka kokuva ngaphambi kokuba kuvele iimpawu.
• Iintlanganiso ezinceda kwezinye iindawo zophuhliso: Umntwana usenokufuna ukudibana nabantu abafana neengcali zentetho, abasebenzi bezentlalo, kunye neengcali zengqondo.
• Ukudibana nogqirha wabantwana: Ufanele ubonane nogqirha wabantwana rhoqo ukuze ujonge impilo yomntwana wakho iyonke.

Kubalulekile: Kubaluleke kakhulu ukuba bonke oogqirha bomntwana wakho basebenzisane kwaye babelane ngolwazi.

Nceda ekulawuleni ubomi bomntwana bemihla ngemihla

Isifo saseNorwich sinokubangela imingeni emininzi kubomi bemihla ngemihla bomntwana.

• Ukulala nokuvuka ngamaxesha aqhelekileyo: Abantwana abanesifo se-celiac banokuba nobunzima bokulala kakuhle ebusuku. Oku kunokubangela ukuba bazive bediniwe emini, benomsindo, kwaye babe nobunzima bokugxila kumsebenzi wesikolo. Ukuba umntwana wakho unengxaki yokulala, thetha nogqirha wakho wezingane ngeendlela zokunceda.
• Ukuhlalisana: Njengoko umntwana wakho ephelelwa kukuva kakuhle, kunokuba nzima ukudlala nabanye abantwana nokusebenzisana nehlabathi. Oku kubonakala ngakumbi emncinci. Umntwana unokuziva eyedwa kwaye angabonakalisa iimpawu zokudakumba. Ungamnceda umntwana wakho ngokucwangcisa imisebenzi yoluntu kwiindawo ezizolileyo ezingenangxolo ingako.
• Ukhathalelo lwezixhobo zokuncedisa ukuva: Ezi ziyinxalenye ebalulekileyo yonyango. Nangona kunjalo, abantwana banokuzilahla okanye baziphule. Ukunyamekela izixhobo zonyango ezikhethekileyo akulula kuye nawuphi na umntwana. Ukulahlekelwa kukuva kunokongeza kolu celomngeni. Kangangoko kunokwenzeka, fundisa umntwana wakho ukuba anakekele izixhobo zakhe zokuncedisa ukuva kwaye umxelele ukuba akuxelele ngoko nangoko ukuba kukho into eyenzekayo.

Zikhathalele nawe.

Umntwana wakho uyakudinga, ngoko ke kubalulekile ukuba uzikhathalele. Kuqhelekile ukuba abazali nabanakekeli bazive bexinezelekile kwaye bediniwe. Nangona kungekho sisombululo silula koku, ukuqonda indlela oziva ngayo linyathelo lokuqala lokufumana izisombululo.

• Thetha nogqirha wakho malunga nendlela oziva ngayo.
• Joyina iqela lenkxaso. Oku kunokukunceda uqhagamshelane nabazali abakwimeko efana neyakho.
• Cela uncedo. Musa ukuthandabuza ukucela uncedo kwizalamane, kubahlobo nakubamelwane.

Amanye amagama esifo saseNorwich

Amanye amagama ale meko ngala:

• `Isifo sika-Anderson-Warburg`
• `Isifo sikaWhitnall-Norman`
• ``Ukuwohloka kwe-oculo-acoustico-cerebral okuqhubekekayo kokuzalwa''
• `I-Oligophrenia microphthalmos`
• `I-Congenital pseudoglioma`

Okokugqibela, yintoni ekufuneka uyikhumbule

Isifo sikaNorris sisifo esintsonkothileyo esichaphazela wonke umntu ngendlela eyahlukileyo. Oko kuthetha ukuba kunokuba nzima ukwazi ukuba ulindele ntoni xa umntwana wakho efunyaniswe enaso. Ukuhlanganisa iqela lezonyango ukuxhasa umntwana wakho kunokukunceda uthathe inyathelo elinye phambili. Buza imibuzo ukuze ufumane ulwazi olufunayo, kwaye ungathandabuzi ukuveza iinkxalabo zakho. Awuwedwa.

Isifo sikaNorrie , Isifo samehlo semfuza, Ukubona kwabantwana, ubumfama, Ukuphazamiseka kokuva, Ukulibaziseka kophuhliso, Ucebisi ngemfuza