Ngaba kukho umahluko emehlweni omntwana wakho? Masifunde nge-'Optic Nerve Hypoplasia' kunye ne-'Septo-Optic Dysplasia'!

Xa ujonga umntwana wakho, ngaba wakha waziva ngathi amehlo akhe akakujongi ngqo, ngathi abaleka apha naphaya, okanye ngathi akanakuhlala ndawo enye? Ngaba ngamanye amaxesha ukhe uzive ngathi akayijongi kakuhle into yokudlala encinci, kodwa uyadlala ngayo? Kuqhelekile ukuba umama okanye utata azive enoloyiko olukhulu kwaye exhalabile xa ebona izinto ezinje. Namhlanje siza kuthetha ngemeko enokubangela ezi mpawu kwaye ikhona xa ezalwa . Oku kubizwa ngokuba yi-'Optic Nerve Hypoplasia'.

Yintoni i-'Optic Nerve Hypoplasia'?

Ngamafutshane, i-Optic Nerve Hypoplasia yimeko yokuzalwa. Okwenzekayo apha kukuba i-optic nerve, ethwala imiyalezo phakathi kwamehlo ethu nengqondo, ayikhuli kakuhle okanye incinci. Cinga ngayo njengeekhamera ezimbini. Oko ikhamera ikubonayo kuthunyelwa engqondweni njengemifanekiso nge-optic nerve. Ngoko ke ukuba le mithambo-luvo ayikhuli kakuhle, oko iliso likubonayo akuyi engqondweni ngokucacileyo. Oku kunokubangela iingxaki ezahlukeneyo zokubona, njengokuzulazula kwamehlo .

Le meko ayichaphazeli nje kuphela i-optic nerve. Ngamanye amaxesha inokuchaphazela nophuhliso lwezinye iindawo zengqondo yomntwana, ingakumbi:

• Ukuphazamiseka kwengqondo ephakathi: Iindawo zengqondo ezahlula ii-hemispheres ezimbini, ezifana ne-septum pellucidum kunye ne-corpus callosum, zisenokungaphuhli kakuhle. Ngamanye amaxesha, ezi zisenokungaphuhli kwaphela. Ezi zibalulekile kunxibelelwano phakathi kwamalungu engqondo.

• I-Pituitary Gland Hypoplasia: Usenokuba ukhe weva nge-Pituitary Gland. Ikwisiseko sobuchopho, ngaphantsi kwe-Hypothalamus. Le gland incinci ilawula imisebenzi emininzi ebalulekileyo emzimbeni wethu, ingakumbi ukuveliswa kweehomoni . Ngoko ke ukuba le gland ayikhuli kakuhle, isenokungavelisi iihomoni ezifunwa ngumzimba, okanye isenokuvelisa ezimbalwa kakhulu.

Ngamanye amaxesha, le meko ikwabizwa ngokuba yi-`(Optic Nerve Hypoplasia)` okanye `(Septo-Optic Dysplasia - SOD)` okanye `(de Morsier Syndrome)`. Oku kungenxa yokuba, njengoko uphando lufumanise, phantse wonke umntu one-`(SOD)` unophuhliso lwe-optic nerve oluchaphazelekayo. Nangona kunjalo, yipesenti encinci kuphela yabantu abane-`(ONH)` (oko kukuthi, phakathi kwe-5% kunye ne-10%) abanophuhliso oluchaphazelekayo lweendawo eziphakathi zobuchopho (umzekelo, `(Septum Pellucidum)`).

Ixhaphake kangakanani le meko?

Ngokwezibalo eziqikelelweyo kumazwe afana ne-United States, umntwana omnye kwabayi-10,000 usengozini.Kuthiwa le meko `(Optic Nerve Hypoplasia)` inokuchaphazela abantu abamalunga ne-100,000. Kwakhona, le meko ichongiwe njengeyona nto iphambili ebangela ukulahleka kokubona kubantwana abangaphantsi kweminyaka emi-3 ubudala. Kukho nabantwana abanjalo eSri Lanka.

Ngaba i-Optic Nerve Hypoplasia yimeko enzulu?

Ewe, le yimeko enzima, kwaye inokuba yingozi ngamanye amaxesha. Kodwa iziphumo ziyahluka kumntu nomntu. Abanye abantwana banokuba neengxaki ezinkulu zokubona. Kwakhona, ukuba i-pituitary gland iyachaphazeleka, inokuphazamisana nokuveliswa kweehomoni emzimbeni. Ezinye iingxaki ezinxulumene neehomoni zinokuba yingozi ebomini. Ke ngoko, ukuba ucinga ukuba umntwana wakho unezi mpawu, okanye ukuba ubona naluphi na utshintsho kwindlela aziphatha ngayo, kubaluleke kakhulu ukubona ugqirha ngokukhawuleza, ngakumbi ugqirha wabantwana okanye ugqirha wamehlo.

Ziziphi iimpawu ze-Optic Nerve Hypoplasia?

Iimpawu ezibonakala kule meko zinokuchaphazela iliso elinye okanye omabini kuphela.

Iimpawu ezinokubonwa ezinxulumene namehlo:

• Ukuphazamiseka kokubona: Oku kunokusukela ekwehleni kancinci kokubona ukuya ekulahlekelweni ngokupheleleyo kokubona (Ukuphazamiseka Okukhulu Kokubona okanye Ubumfama).
• I-Nystagmus: Intshukumo ekhawulezayo neqhubekayo yamehlo ukusuka kwelinye icala ukuya kwelinye okanye phezulu nasezantsi, efana nesandla sesibini sewotshi, kodwa ngokukhawuleza.
• I-Strabismus (amehlo anqamlezileyo) okanye i-Esotropia (amehlo angajongi kwicala elinye): Elinye iliso lingajonga ngqo phambili ngelixa elinye iliso lingajika kwelinye icala.
• Ubunzima bokugxila kwinto ethile: Xa ecelwa ukuba ajonge into ethile, efana nethoyi, umntu usenokungakwazi ukugxila kuyo ngokufanelekileyo.

Iimpawu ezinokwenzeka ngenxa yokuphazamiseka kophuhliso lobuchopho:

• Iingxaki zoPhuhliso lweNgqondo (`(Ukukhubazeka kwengqondo)`): Izinto ezifana nobunzima bokufunda, izakhono zengqondo ezingaphuhli ngendlela efanelekileyo ngokweminyaka.
• Ukuxhuzula: Ukulahlekelwa zingqondo ngequbuliso kunye nokuxhuzula.

Iimpawu ezinxulumene namahomoni anokubakho ngenxa yokukhula okuncinci kwe-pituitary gland:

Oku kubaluleke kakhulu, kuba iihomoni zilawula izinto ezininzi emizimbeni yethu.

• Ubunzima bokulawula imisebenzi yomzimba: Umzekelo, ukungakwazi ukulawula indlala nonxano, iingxaki zokulala, ukungakwazi ukugcina ubushushu bomzimba ngokufanelekileyo.
• Ukungakwazi ukuthwala umntwana: Ukungabi nabude obufanelekileyo ngokweminyaka, ukuba mfutshane kakhulu kunabanye abantwana.
• I-Hypothyroidism: Oku kuchaphazela neenkqubo ezininzi emzimbeni.
• Ukufikisa okulibazisekileyo.
• Iswekile ephantsi egazini (iHypoglycemia): Oku kunokuba yingozi.
• Imeko ebonakala ngathi sisifo seswekile kodwa enganxulunyaniswanga neswekile, ebangela ukuchama kakhulu kunye nokunxanwa (`(Diabetes Insipidus)`).
• I-Jaundice: Ukutyheli kolusu namehlo, ingakumbi kwiintsana ezisandul’ ukuzalwa.

Khawuthelekelele intombazana yakho izama ukujonga ithoyizi, kodwa amehlo ayo akabonakali egxile kakuhle, okanye iyangcangcazela nje. Okanye ihlala ihlanza, ibonakala ibanda, kwaye ayifuni ukusela ubisi ngokufanelekileyo. Ukuba ubona into efana nale, kuya kufuneka ubone ugqirha ngoko nangoko.

Ngaba i-Optic Nerve Hypoplasia ingabangela ubumfama obupheleleyo?

Kwezinye iimeko, ewe. Le meko inokubangela ukulahleka okukhulu kokubona okanye nokuba yimfama ngokupheleleyo . Kwelinye icala, abanye abantwana baneengxaki zokubona ezincinci. Ngamanye amaxesha, njengoko umntwana ekhula, ezinye zezi mpawu (ezifana ne-nystagmus) zinokuncipha. Ugqirha wakho uya kukwazi ukukuxelela ngqo indlela le meko eza kumchaphazela ngayo umntwana wakho.

Zithini izizathu zale meko?

Abaphandi abakaqiniseki ukuba yintoni kanye kanye ebangela i-Optic Nerve Hypoplasia. Nangona kunjalo, kucingelwa ukuba ibangelwa kukudibana kwezinto ezingqongileyo kunye ne-genetic factors. Umzekelo, le meko inokunxulunyaniswa ne-fetal alcohol syndrome (FAS), ebangelwa kukuba umama usela utywala ngexesha lokukhulelwa.

Nangona unobangela wemfuza ungasoloko ufumaneka, kwezinye iimeko utshintsho lwemfuza (`(Mutations)`) lunokuchaphazela oku. Olu tshintsho lwemfuza lufunyanwa njenge-`(Autosomal Recessive)`, oko kuthetha ukuba umntwana unokuba nale meko kuphela ukuba umntwana ufumana olu tshintsho lwemfuza kumama nakutata. Ezinye zemfuza ezinokuba negalelo zezi:

• `(HESX1)`
• `(SOX2)`
• `(SOX3)`
• `(OTX2)`
• `(PROKR2)`
• Ezinye ii-genes ezingekafunyaniswa.

Ziziphi izinto ezibangela umngcipheko we-Optic Nerve Hypoplasia?

Kukho izinto ezithile ezinokubangela le meko. Ezi zizinto ezidla ngokuchaphazela umama ngexesha lokukhulelwa:

• Ubudala bomama obungaphantsi kweminyaka eli-19.
• Ukukhulelwa okokuqala.
• Kukho umntu kusapho (usapho lwemvelo) okhe waba nale meko ngaphambili.

Ukuba uqala usapho okanye ulindele omnye umntwana, kubaluleke kakhulu ukuya kwiikliniki zokhathalelo lwangaphambi kokukhulelwa rhoqo. Oku kuya kukunceda ugcine impilo yakho kunye neyomntwana wakho ongekazalwa.

Zithini iingxaki zale meko?

Iingxaki ze-optic nerve hypoplasia ziyahluka ngokuxhomekeke ekubeni leliphi na icala lobuchopho elichaphazelekileyo. Ezinye iingxaki zingabandakanya:

• Ukungakwazi ukulawula ubushushu bomzimba.
• Indlala nonxano olugqithisileyo (`(Hyperphagia)`) kwaye ke ngoko ukutyeba kakhulu (`(Ukutyeba kakhulu)`).
• Ukulahlekelwa ngumdla wokutya okanye ukwala ukutya (`(Hypophagia)`).
• Ukungalungelelani kwindlela yokulala nokuvuka.
• Ukulibaziseka kophuhliso: Oku kuthetha ukulibaziseka kwizakhono zokunyakaza (ezifana nokuhamba nokukhasa) kunye nezakhono zonxibelelwano (ezifana nezakhono zonxibelelwano).
• Ingxaki ye-Autism Spectrum (ASD).

Ezinye zezi ngxaki, ingakumbi iingxaki zokulawula ubushushu bomzimba kunye nokutya, zinokuba yingozi ebomini kwezinye iimeko, ngoko ke kufuneka kuthathwe ingqalelo enkulu.

Ifunyanwa njani i-Optic Nerve Hypoplasia?

Le meko idla ngokuchongwa ngugqirha wamehlo emva kokuhlolwa kwamehlo nezinye iimvavanyo. Ngokuqhelekileyo, uphawu lokuqala loku kukuhamba kwamehlo okungaqhelekanga. Olu phawu lunokubonwa kwiinyanga zokuqala zokuzalwa komntwana. Nangona kunjalo, ngamanye amaxesha lusenokungabonakali de umntwana abe ngumntwana okanye esemncinci.

I-ONH inokwenzeka yodwa, oko kuthetha ukuba ayichaphazeli ezinye iindawo zobuchopho. Okanye, ukongeza kwi-optic nerve, inokufunyanwa ukuba inengxaki enye okanye ezingaphezulu zokukhula kwi-midbrain nakwi-pituitary gland.

Ukuqinisekisa ukuxilongwa, ugqirha unokuyalela uvavanyo lomfanekiso, olufana ne-MRI (Magnetic Resonance Imaging) okanye i-CT scan (Computed Tomography scan). Ezi scan zinceda ugqirha ukuba afumane umbono ongcono wendlela ingqondo yomntwana wakho ekhula ngayo.

Ukongeza, kunokwenziwa uvavanyo lwegazi oluninzi. Olu lwenziwa ukuze kuthintelwe ezinye iimeko ezineempawu ezifanayo. Umzekelo, amanqanaba e-cortisol esegazini kunye namanqanaba e-hormone yokukhula anokuhlolwa. Ezi zisenokuba zingaqhelekanga kwi-ONH.

Ngaba i-Optic Nerve Hypoplasia inganyangeka?

Ngelishwa, okwangoku akukho nyango lwale meko. Ekubeni iyimeko yokuzalwa, ayinakuguqulwa okanye ibuyiselwe.

Ngoko ke uyiphatha njani le nto?

Unyango lujolise ekulawuleni iimpawu zomntwana kunye nokuzinika isiqabu. Oku kunokwahluka kumntu nomntu. Unyango oluphambili zezi:

• Unyango Lokubona:Ukusebenzisa izixhobo ezinceda kwiingxaki zokubona, njengeeglasi ezikhethekileyo kunye neelensi zokukhulisa ('izixhobo zokubona okuphantsi'), ukunceda umntwana enze imisebenzi yemihla ngemihla.
• Unyango Lokutshintshwa KweeHormone: Ukuba kukho ukungabikho kweehomoni ngenxa yeengxaki ze-pituitary gland, iihomoni zinikwa ngaphandle. Kukho amayeza akhethekileyo oku.
• Unyango Lomzimba, Unyango Lomsebenzi, kunye/okanye Unyango Lokuthetha: Olu nyango lunceda ukuphucula uphuhliso lomzimba lomntwana, amandla okwenza imisebenzi yemihla ngemihla ngokuzimela, kunye nezakhono zokuthetha.

Ugqirha uza kugqiba ukuba loluphi uhlobo lonyango olulungele umntwana wakho aze enze isicwangciso sonyango ngokufanelekileyo. Ngokuxhomekeke kwezinye iimpawu zomntwana wakho, kunokufuneka olunye unyango oluthile.

Ukuba kufuneka unike umntwana wakho amayeza, buza ugqirha wakho ngononophelo malunga nokuba uza kumnika nini amayeza, ukuba angakanani, uza kumnika njani, kunye neziphumo ebezingalindelekanga ekufuneka uzazi.

Liza kuba njani ikamva lomntwana kule meko?

Iziphumo ze-Optic Nerve Hypoplasia zahluka kakhulu kumntu nomntu. Ezinye iimpawu zinokubonakala ebuntwaneni, ngelixa ezinye zinokubonakala ebuntwaneni okanye ebusheni. Iindaba ezimnandi zezokuba le meko ayiqhubeki. Oku kuthetha ukuba imeko ayibi mbi ngokuhamba kwexesha . Ezinye iimpawu, ezifana ne-nystagmus, zinokuphucuka nangokukhula.

Abantwana abane-ONH bafuna ukujongwa nokunakekelwa ixesha elide ngabazali, abanakekeli, kunye noogqirha. Bafanele bajongwe rhoqo ukuqinisekisa ukuba impilo yabo ilungile. Bafanele bahlolwe amehlo ubuncinane kanye ngonyaka kwaye babone ezinye iingcali xa kufuneka.

Nangona iingxaki ezinzima nge-pituitary gland zinokuba yingozi ebomini, iziphumo ezilungileyo zinokufumaneka ukuba isifo sifunyenwe kwaye sinyangwa kwangethuba.

Ngaba i-Optic Nerve Hypoplasia ingathintelwa?

Okwangoku akukho ndlela eyaziwayo yokuthintela le meko. Ukuba uceba ukukhulelwa, kulungile ukubona umcebisi wezemfuza okanye umboneleli weenkonzo zokhathalelo lwangaphambi kokukhulelwa ukuze ufunde ngakumbi ngezinto ezikubangela umngcipheko kunye nendlela yokuhlala usempilweni.

Ndifanele ndimbone nini ugqirha?

Ukuba amehlo omntwana wakho akakujongi kakuhle, aphazamisekile, okanye akashukumi ngendlela engaqhelekanga , bona ugqirha ngoko nangoko. Kwakhona, xelela ugqirha wakho ukuba umntwana wakho akafikeleli kwinqanaba lokukhula (umzekelo, ukukhasa, ukukhasa, okanye ukufikelela kwizinto) ezifanele iminyaka yakhe.

Ukuba umntwana wakho unesithuthwane, fowunela u-911 ngoko nangoko okanye umse kwigumbi likaxakeka lesibhedlele esikufutshane.

Ndingayibuza yiphi imibuzo ugqirha?

Ungabuza ugqirha wakho imibuzo efana nale:

• Ndingamnceda njani umntwana wam ukuba alawule iimpawu zakhe?
• Ndingenza ntoni xa ndibona ukuba umntwana wam uphoswa ziindlela zokukhula?
• Ngaba umntwana wam udinga iiglasi okanye ezinye izixhobo zokubona?
• Imeko `(ONH)` iza kumchaphazela njani umntwana wam xa eqala isikolo?
• Umntwana wam ufanele ahlolwe amehlo kangaphi?

Okokugqibela, izinto ekufuneka uzikhumbule

Njengomzali, kuyinto eqhelekileyo ukuziva wothukile kwaye usoyika xa amehlo omntwana wakho ezulazula kwaye engakujongi kakuhle. Imeko ebizwa ngokuba yi-Optic Nerve Hypoplasia inokuchaphazela amandla omntwana wakho okukubona ngokucacileyo. Inokuchaphazela nezinye iindawo zengqondo ezinceda kwimisebenzi ebalulekileyo efana nokuveliswa kweehomoni kunye nophuhliso lomzimba.

Kodwa khumbula, awuwedwa. Ugqirha unokumxilonga umntwana wakho, amxilonge, aze anike isicwangciso sonyango esilungiselelwe iimpawu zakhe ezithile.

Kuqhelekile ukuba abantwana bafune uncedo olungaphezulu kancinci esikolweni kunabanye abantwana, ingakumbi ukuba bathatha ixesha elide ukukhula kunabanye. Ukuba ubona naziphi na iimpawu ezixhalabisayo ezichaphazela ukukhula okanye ukukhula komntwana wakho, ungathandabuzi ukuxelela ugqirha wakho. Iqela lezonyango lomntwana wakho lihlala likulungele ukuphendula nayiphi na imibuzo onokuba nayo. Ngesibindi, unokunika umntwana wakho unonophelo olungcono aludingayo.

i- optic nerve hypoplasia, i-septo-optic dysplasia, ubumfama bokuzalwa, ukukhubazeka kokubona, i-pituitary gland, uphuhliso lomntwana, i-nystagmus