Ese uhangayikishijwe n'ubushobozi bwo kubona bw'umwana wawe? Reka twige ku ndwara ya Norrie.

Twumva twishimye cyane iyo turebye amaso y'uruhinja ruvutse, si byo se? Ariko rimwe na rimwe, dushobora gushidikanya gato ko hari ikibazo kiri muri ayo maso. Uyu munsi tugiye kuvuga ku ndwara idakunze kugaragara yitwa 'Norrie Disease', ishobora kugira ingaruka ku kureba k'umwana gusa, ndetse no ku bindi bintu byinshi. Ntugatinye iyo ubyumvise, reka tubisobanukirwe mu buryo bworoshye.

Indwara ya Norrie ni iki? Mu magambo make...

Indwara ya Norris ni indwara y'amaso iterwa n'uturemangingo . Muri ibi, igice cy'ijisho ry'umwana cyitwa retina, n'imitsi y'amaraso ihuzwa na ryo, ntibikura neza. Ese wari uzi ko retina ari agace gato inyuma y'amaso yacu gakora nk'agafoto ka kamera. Ibi nibyo bipima urumuri n'amabara kandi bikohereza ubutumwa mu bwonko, ari nabwo tubona.

Ku mwana urwaye indwara ya Norris, retina ntikura neza, bityo ishobora kuva mu jisho. Ibi bishobora gutera kuva amaraso imbere mu jisho. Ibi bituma retina iba fibrous kandi ntishobore gukora neza. Kenshi na kenshi, iyi ndwara ishobora gutuma umwana aba impumyi burundu igihe yavukaga cyangwa mu mezi make ya mbere y'ubuzima bwe. Nubwo hari abana bashobora kubona urumuri igihe bavuka, abenshi batakaza ubushobozi bwo kureba mu jisho rimwe cyangwa yombi igihe bavuka.

Igikuru ni uko iyi mihindagurikire y’uturemangingo igira ingaruka ku kureba ishobora no kugira ingaruka ku yindi mikurire y’umubiri w’umwana. Kubwibyo, indwara ya Norrie ntigarukira gusa ku gutakaza ubushobozi bwo kureba.

Ni ibihe bimenyetso bindi bishobora kugaragara muri iyo ndwara ya Norrie?

Kutabona neza ni cyo kimenyetso nyamukuru. Ariko kandi, abana barwaye indwara ya Norrie nabo bashobora kugira ibi bikurikira:

• Ubumuga bwo kutumva: Indwara ya Norris ishobora no kugira ingaruka ku mikurire y'ugutwi imbere. Kubwibyo, ubumuga bwo kutumva bushobora gutangira mu bwana bukagenda bwiyongera buhoro buhoro. Ushobora kandi kumva urusaku mu matwi (tinnitus). Hari abantu bashobora kuba baragabanutse cyane mu gihe cy'imyaka 35.
• Impinduka mu myitwarire: Iyi ndwara ishobora no kugira ingaruka ku myitwarire y'umwana. Urugero, indwara yitwa "Pseudobulbar affect" (kugorwa no kugenzura guseka no kurira) igaragara ku muntu umwe kuri bane bafite Norris syndrome.
• Gutinda mu mikurire: Bamwe mu bana n'abana bashobora gufata igihe kirekire kugira ngo bagere ku ntambwe z'imikurire nko kwicara no kugenda.
• Indwara ya Autism spectrum: Umuntu umwe kuri bane barwaye Norris syndrome ashobora kugaragaza ibimenyetso bya autism.
• Indwara zo gucika intege: Nubwo zidakunze kugaragara nk'izindi ndwara, umuntu umwe ku icumi ashobora kurwara indwara zo gucika intege.
• Indwara y'imitsi yo mu mpande:Hari abantu bashobora kugira ibibazo byo gutembera kw'amaraso, urugero nk'ibisebe byo mu mitsi.

Icy'ingenzi: Si buri mwana wese uzagira ibi bimenyetso byose. Ndetse n'abana bo mu muryango umwe bashobora kugira ibimenyetso bitandukanye. Kubwibyo, buri mwana akeneye kwitabwaho ku giti cye.

Norovirus ikunze kugaragara gute? Ni nde uyirwara?

Indwara ya Norris ni indwara idakunze kugaragara cyane. Yibasira abantu bagera kuri miliyoni imwe.

Ibi byibasira cyane abahungu. Abakobwa ni bo bakunze kwibasirwa n’iyi ndwara. Nubwo yaba ibaho, ibimenyetso byayo ni bike cyane. Ntabwo ari ubwoko cyangwa ubwoko runaka.

Ni ibihe bimenyetso umuganga abona mu ndwara ya Norrie?

Mu gihe cyo gusuzuma amaso, umuganga w'amaso ashobora kubona ibimenyetso byinshi bifitanye isano n'indwara ya Nori. Ibi birimo:

• Ikibyimba cy'umuhondo n'imvi inyuma y'ijisho (Pseudoglioma). Ibi biterwa n'uko retina idakora neza.
• Gucika kw'inyuma y'ijisho.
• Kweza cornea y'ijisho (Leukocoria).
• Impeta y'umukara iri ku jisho yariyongereye.
• Iris hypoplasia ni ukudatera imbere neza kw'iris.
• Katarakte ifatanye n'indorerwamo cyangwa cornea.
• Amaso mato ugereranyije n'ingano isanzwe (Microphthalmia).
• Ubwiyongere bw'umuvuduko w'amaso. Ibi bishobora gutera ububabare mu maso.
• Kuva amaraso mu mubiri.
• Gupfuka kw'indorerwamo y'ijisho (cataract).
• Kugabanuka kw'ijisho ridafite ubushobozi bwo kureba `(Phthisis bulbi)`.

Ibi bimenyetso byose ntibigaragara icyarimwe. Bimwe bishobora kugaragara umwana akivuka, ibindi bishobora kugaragara nyuma y'amezi cyangwa imyaka.

Ni ibihe bimenyetso umwana afite?

Ibimenyetso by'indwara ya Norris bishobora gutandukana cyane bitewe n'ubwoko bw'indwara. Kubabara amaso ni ikimenyetso gikunze kugaragara ku bana bamwe bitewe n'umuvuduko mwinshi w'ijisho, ariko ibi ntibikunze kugaragara cyane. Hari igihe calcium yinjijwe mu mboni y'ijisho (band keratopathy) ishobora gutera ububabare no kubabara. Muganga w'amaso w'umwana wawe azahora asuzuma umuvuduko w'ijisho rye.

Ibindi bimenyetso bishobora kuba bifitanye isano no kutumva neza n'izindi ndwara zijyanye nabyo. Vugana n'itsinda ry'abaganga b'umwana wawe kugira ngo umenye neza ibimenyetso ugomba guhangayikishwa na byo.

Ni iki gitera indwara ya Norrie?

Indwara ya Norris iterwa n’impinduka mu miterere y’uturemangingo . Ingirabuzimafatizo yihariye igira ingaruka kuri ibi ni ingirabuzimafatizo ya NDP. Iyi ngirabuzimafatizo ya NDP itegeka umubiri wacu gukora poroteyine yitwa Norrin. Iyi poroteyine ya Norrin ni ingenzi cyane mu gutanga ibimenyetso ku turemangingo no kwibanda ku turemangingo. By’umwihariko, Norrin ifasha retina yacu gukura neza. Ifasha kandi mu kurema imitsi y’amaraso itanga amaraso muri retina no mu bice by’ugutwi (Angiogenesis).

Iyo habayeho impinduka mu ngirabuzimafatizo ya `NDP`, poroteyine ya Norrin ntikora neza. Impinduka nk'izo mu ngirabuzimafatizo zishobora gutera indwara zitandukanye z'amaso. Indwara ya Norrin niyo ikomeye cyane muri zo.

Ni gute indwara ya Norrie yanduzwa n'abantu?

Iyi gene ya `NDP` yahinduwe iherereye kuri chromosome ya X. Nkuko mubizi, X na Y ni chromosome ebyiri z'igitsina. Hariho imiterere itandukanye y'indwara zo mu bwoko bwa 'ragina'. Indwara ya Norrie iragwa mu buryo bwa X-linked recessive pattern .

Izi ndwara zivukanwa akenshi zigira ingaruka ku bahungu. Abakobwa ntibakunze kurwara cyane. Ibi biterwa nuko abahungu bafite chromosome X imwe gusa. Kubwibyo, bashobora kuba barazwe gene imwe yahindutse itera iyo ndwara.

Niba umubyeyi ari we utwara iyi gene yahindutse (bivuze ko afite iyi gene kuri imwe muri chromosomes ze ebyiri za X, ariko nta bimenyetso afite, kuko byose bigenda neza bitewe na gene nzima iri kuri chromosome X), hari amahirwe ya 50% ko umwana wese w'umuhungu abyara azahabwa indwara ya Norrie. Umwana w'umuhungu ntabwo ahabwa iyi ndwara na se.

Indwara ya Norrie ipimwa ite?

Umuganga w'amaso asuzuma indwara ya Norwich muri ubu buryo bukurikira:

• Mu gukora isuzuma ryuzuye ry'amaso no gusuzuma umubiri .
• Mu kumenya amateka y'ubuzima bw'umwana wawe mu muryango.
• Mu gutumiza ibizamini by’uturemangingo .

Abaganga b'amaso bagomba gutandukanya no gusuzuma indwara ya Nori n'izindi ndwara zifite ibimenyetso bisa, nko:

• `Retinoblastoma` (ikibyimba cya kanseri gikura mu jisho)
• `Retinopathy y'igihe kitageze` (imikurire mibi y'imitsi ijyana amaraso muri retina ku bana bavutse igihe kitageze)
• "Imitsi y'amaraso y'umwana idakira"
• `Indwara y'amakoti`

Hari izindi ndwara zoroshye kandi zitari X-linked vitreoretinopathy (`(Familial exudative vitreoretinopathies)`) zifitanye isano n'indwara ya Norrie.

Hari igihe bishobora kumenyekana mu gihe utwite binyuze mu isuzuma nka ``Amniocentesis```. Ibi bibaho iyo hari umuntu wo mu muryango warwaye indwara ya Norrie, cyangwa niba umubyeyi azwiho kuba ari we utwara ``NDP``` mutation gene.

Ni ubuhe buryo bwo kuvura indwara ya Norrie?

Abana barwaye indwara ya Norrie bakeneye kuvurwa hakurikijwe ibyo bakeneye. Uburyo bwo kuvura bushobora kuba burimo:

• Kubaga: Kubaga bikorwa hagamijwe kwita ku ndwara runaka, nka cataract. Ibi bishobora gufasha mu gukumira ko amaso y'umwana agabanuka no kugabanya ububabare. Ariko, kureba ntibishobora kugaruka. Ni gake cyane abana bavuka bafite retina idakora neza kandi bashobora kubona urumuri. Muri ibyo bihe, kubaga bishobora gufasha mu gukomeza ubwo bushobozi.
• Ibikoresho byo kumva: Ibi bifasha abana, urubyiruko n'abageze mu za bukuru kumva neza. Ni ingenzi cyane ku muntu ufite ikibazo cyo kutumva kugira ngo ahuze n'isi.
• Implanto ya Cochlear: Ibi bigufasha kumva amagambo n'andi majwi neza.

Uko umwana wawe akura, azakenera kwitabwaho no gucungwa buri gihe. Ibi bizasaba itsinda ry'inzobere zitandukanye:

• Abaganga b'abana
• Abahanga mu by'imiterere y'ibinyabuzima
• Abaganga b'amaso
• Abaganga b'amatwi
• Abavuzi b'imivugire

Umwana wawe ashobora kandi kungukirwa na serivisi zo gufasha mu burezi. Ni ngombwa kuvugana n'ubuyobozi bw'ishuri ry'umwana wawe kugira ngo umenye ibikoresho biboneka.

Ejo hazaza h'abantu barwaye indwara ya Norrie ni he?

Abantu benshi barwaye indwara ya Norris bahuma burundu (ntibashobora kubona urumuri urwo arirwo rwose) mu mezi 12 ya mbere y'ubuzima bwabo. Umuntu umwe kuri batanu ashobora kubona urumuri nyuma y'imyaka 3.

Ahazaza h'umwana wawe hashingiye ku bintu byinshi, harimo ibimenyetso by'indwara bimugiraho ingaruka n'uburemere bwabyo. Itsinda ry'abaganga b'umwana wawe ni ryo soko ryiza ry'amakuru yerekeye uburyo indwara ya Norwich igira ingaruka ku mwana wawe n'uburyo wamufasha kumva amerewe neza.

Ese virusi ya Norovirus ishobora kwirindwa?

Norovirus ntishobora kwirindwa. Niba hari umuntu wo mu muryango wawe ufite Norovirus cyangwa izindi ndwara z'amaso yavukanye, ni byiza gutekereza ku bujyanama ku bijyanye n'imiterere y'umubiri mbere yo gutwita. Umujyanama mu by'imiterere y'umubiri ashobora kukugira inama yo gupima imiterere y'umubiri kugira ngo amenye niba uri umuntu ufata imiterere y'uturemangingo twa NDP. Iyi mihindagurikire ishobora gutuma umwana wawe agira indwara zitandukanye z'amaso, harimo na Norovirus.

Ni gute nakwita ku mwana wanjye?

Itsinda ry'abaganga b'umwana wawe rizakubwira uburyo bwiza bwo kwita ku mwana wawe mu rugo. Ibyo buri mwana akeneye biratandukanye bitewe n'imyaka ye n'ibimenyetso bye. Hasi hari inama rusange zishobora gufasha umwana wawe kugera ku bushobozi bwe bwose.

Menya neza ko ujyana umwana wawe kwa muganga.

Umwana wawe azagira gahunda nyinshi zo kubonana n'inzobere zitandukanye. Izi gahunda ni ingenzi kugira ngo umwana wawe ahabwe ubuvuzi bujyanye n'ibyo akeneye ku giti cye.

• Isuzuma ry'amaso ngarukamwaka: Nubwo umwana wawe yaba yatakaje ubushobozi bwo kubona, ni ngombwa kujya kwa muganga w'amaso rimwe mu mwaka. Ibi bizafasha umwana wawe kureba niba hari ibibazo bitera ububabare bw'amaso no kumugira inama yo kumufasha mu gihe bibaye ngombwa.
• Gusuzuma amatwi buri mezi 6 kugeza kuri 12: Ukurikije buri gihe uburyo umwana wawe yumva, ushobora kuvurwa igihe bibaye ngombwa. Umuganga w’amatwi ashobora kumenya uburyo yumva nabi mbere yuko ibimenyetso bigaragara.
• Guhura bifasha mu bindi bice by'iterambere: Umwana ashobora gukenera guhura n'abantu nk'abaganga b'imivugire, abakozi bashinzwe imibereho myiza y'abaturage, n'abahanga mu by'imitekerereze y'abantu.
• Guhabwa inama n'abaganga b'abana: Ugomba kujya kwa muganga w'abana buri gihe kugira ngo urebe ubuzima bw'umwana wawe muri rusange.

Icy'ingenzi: Ni ngombwa cyane ko abaganga bose b'umwana wawe bakorana kandi bagasangira amakuru.

Fasha gucunga ubuzima bw'umwana bwa buri munsi

Indwara ya Norwich ishobora guteza ibibazo byinshi mu buzima bwa buri munsi bw'umwana.

• Gusinzira no kubyuka mu masaha asanzwe: Abana barwaye indwara ya celiac bashobora kugorwa no gusinzira neza nijoro. Ibi bishobora gutuma bumva bananiwe ku manywa, barakara, kandi bakagira ingorane zo kwita ku mirimo y'ishuri. Niba umwana wawe afite ikibazo cyo gusinzira, ganira n'umuganga w'abana ku buryo bwo kumufasha.
• Kwifatanya n'abandi: Uko umwana wawe yumva nabi, bishobora kugorana gukina n'abandi bana no kuganira n'abandi bantu. Ibi bigaragarira cyane cyane akiri muto. Umwana ashobora kumva ari wenyine kandi ashobora kugaragaza ibimenyetso by'ihungabana. Ushobora gufasha umwana wawe utegura ibikorwa byo gusabana ahantu hatuje kandi hari urusaku ruto cyane inyuma.
• Kwita ku bikoresho by'ubutabazi bw'amatwi: Ibi ni igice cy'ingenzi mu kuvura. Ariko, abana bashobora kubitakaza cyangwa kubivunika. Kwita ku bikoresho byabugenewe byo kwa muganga ntabwo byoroshye ku mwana uwo ari we wese. Gutakaza amatwi bishobora kongera iki kibazo. Uko bishoboka kose, mwigisha umwana wawe kwita ku bikoresho bye by'ubutabazi bw'amatwi kandi umubwire ko akwiye kubikubwira ako kanya nihagira ikiba.

Witeho nawe ubwawe.

Umwana wawe aragukeneye, bityo rero ni ngombwa ko wiyitaho. Ni ibisanzwe ko ababyeyi n'abarera abana bumva baremerewe kandi bananiwe. Nubwo nta gisubizo cyoroshye kuri ibi, kwemera uko umerewe ni yo ntambwe ya mbere yo gushaka ibisubizo.

• Vugana na muganga wawe uko umerewe.
• Jya mu itsinda ry'abaterankunga. Ibi bishobora kugufasha kuvugana n'ababyeyi bari mu mimerere nk'iyawe.
• Saba ubufasha. Ntugatinye gusaba ubufasha ku bavandimwe, inshuti n'abaturanyi.

Andi mazina y'indwara ya Norwich

Andi mazina y'iyi ndwara ni:

• `Indwara ya Anderson-Warburg`
• `Indwara ya Whitnall-Norman`
• "Ihindagurika ry'ubwonko rigenda rikura mu buryo bw'umwimerere"
• `Oligophrenia microphthalmos`
• `Indwara ya Congenital pseudoglioma`

Amaherezo, icyo kwibuka

Indwara ya Norris ni indwara igoye ifata buri wese mu buryo butandukanye. Ibyo bivuze ko bishobora kugorana kumenya neza icyo ugomba kwitega igihe umwana wawe azayirwara. Guteranya itsinda ry'abaganga kugira ngo bafashe umwana wawe bishobora kugufasha gutera intambwe imwe. Baza ibibazo kugira ngo ubone amakuru ukeneye, kandi ntutindiganye kugaragaza impungenge zawe. Ntabwo uri wenyine.

Indwara ya Norrie , Indwara y'amaso y'uruhererekane, Kubona kw'umwana, Ubumuga, Kutumva neza, Gutinda mu mikurire, Ubujyanama ku ruhererekane