Ese imitsi y'umwana wawe igenda icika intege buhoro buhoro? Reka twige ku ndwara ya Duchenne Muscular Dystrophy!

Ese umwana wawe yatangiye kugenda atinze kurusha abandi bana? Cyangwa ahora agwa? Ese wabonye ko agorana guhaguruka yicaye cyangwa kuzamuka ingazi? Ibi ni ibintu rimwe na rimwe tudakunze kwitaho cyane nk'ababyeyi. Ariko rimwe na rimwe ibi bishobora kuba ibimenyetso bya mbere by'indwara nka Duchenne Muscular Dystrophy. Reka tubiganireho uyu munsi. Ntutinye, icy'ingenzi ni ukumenya ibi.

Duchenne Muscular Dystrophy (DMD) ni iki?

Mu magambo make, 'muscular dystrophy' ni itsinda ry'indwara zigabanya intege z'imitsi uko igihe kigenda gihita zikagabanya ubworoherane bwayo. Ubwoko bukunze kugaragara cyane ni Duchenne muscular dystrophy, twita DMD mu magambo ahinnye.

Ibi biterwa n'inenge iri mu ngirabuzimafatizo ifasha imitsi yacu kugumana ubuzima bwiza. Tekereza imitsi yacu nk'urukuta rw'amatafari. Urukuta ruhuza aya matafari ni poroteyine yitwa dystrophin . Ku bana barwaye DMD, umubiri ntukora iyi poroteyine ya dystrophin, cyangwa ngo uyikoreho bike cyane. Hanyuma, nk'urukuta rudafite urukuta, imitsi irangirika byoroshye kandi ikagira intege nke buhoro buhoro.

Iyi ndwara ikunze kugaragara cyane mu bahungu . Ibimenyetso bikunze kugaragara mu bwana. Mu ntangiriro, guhagarara, kugenda no kuzamuka ingazi bishobora kugorana. Uko igihe kigenda gihita, bamwe mu bana bashobora gukenera gukoresha intebe y'abamugaye. Umutima n'ibihaha nabyo bishobora kugira ingaruka.

Ibimenyetso ni ibihe? Ubimenya ute?

Niba umwana wawe afite indwara ya DMD, uzabona ibimenyetso bya mbere mbere y'imyaka 6. Imitsi yo mu maguru ibanza kugira ingaruka. Niyo mpamvu aba bana batangira kugenda batinze kurusha abandi bana. Iyo bamaze gutangira kugenda, bagwa kenshi, bagorwa no kubyuka hasi, kandi bagorwa no kuzamuka ingazi. Nyuma y'igihe runaka, bashobora gutangira kugenda cyangwa kugenda ku mitwe y'amano yabo.

Uko umwana agenda akura, ibimenyetso byinshi bishobora kugaragara.

Ariko ibuka ko indwara ya DMD akenshi atari indwara ibabaza, kandi ntigira ingaruka ku bwenge bw'umwana.

Ni gute wasuzuma neza indwara?

Niba ubonye ibi bimenyetso ku mwana wawe, ikintu cyiza wakora ni ukujya kwa muganga w’umuryango wawe vuba bishoboka. Azakubaza ibimenyetso by’umwana wawe. Hanyuma azasuzuma umwana, nibiba ngombwa, akwohereze ibizamini bimwe na bimwe.

Ibizamini bigomba gukorwa niba muganga afite gushidikanya

• Ibipimo by'amaraso: Ibi bireba cyane cyane enzyme yitwa Creatine Kinase (CK) . Iyi enzyme ya CK irekurwa mu maraso iyo imitsi yangiritse. Niba rero urugero rwa CK ruri hejuru cyane, ni ikimenyetso gikomeye cy'uko ufite DMD.
• Ibizamini bya Gene: Iki kizamini, gishobora gukorwa hakoreshejwe amaraso, gishobora kumenya neza niba hari inenge muri gene ya dystrophin itera DMD. Iki kizamini gishobora gukorwa kugira ngo harebwe niba abagore bo mu muryango wabo bafite iyi gene (ari bo batwara iyi ndwara).
• Kuvura imitsi:Aha, agace gato cyane k'imitsi y'umwana gafatwa n'urushinge ruto cyane maze kagasuzumwa hifashishijwe mikorosikopi. Bishobora kwemezwa niba poroteyine ya dystrophine iri hasi mu rugero. Ariko, bitewe n'ibizamini bya genetiki byagezweho muri iki gihe, iki kizamini ntabwo ari ngombwa mu bihe byinshi.

Ni ubuhe buryo bwo kuvura?

Nta muti uraboneka wa DMD. Ariko, hari uburyo bwinshi bwiza bwo kuvura ibimenyetso no kurinda imitsi, umutima n'ibihaha.

• Corticosteroids: Imiti nka Prednisone na Deflazacort ishobora gufasha mu kugenzura kwangirika kw'imitsi ku rugero runini. Abana bafata iyi miti bashobora kugenda imyaka 2-5 kurusha abatayifata. Inafasha kandi umutima n'ibihaha gukora neza.
• Imiti igezweho: Muri iki gihe, hashyizweho uburyo butandukanye bwo kuvura bitewe n’imiterere y’ubumuga bw’uturemangingo butera indwara ya DMD. Imwe muri iyo miti irimo Eteplirsen, Golodirsen, na Casimersen. Iyi miti ifasha gusubiza poroteyine ya dystrophin yabuze ku rwego runaka.
• Ubuvuzi bw'uturemangingo: (Delandistrogene moxeparvovec - Elevidys) ni bwo buvuzi bwa mbere bwemewe kuri iyi ntego. Bukubiyemo guha umubiri indi poroteyine isimbura igice cy'imikorere ya poroteyine ya dystrophin. Ubu buvuzi buracyari bushya cyane kandi buhenze.
• Inama ku baganga b'indwara z'umutima: Abana bafite indwara zo mu mutwe bashobora kugira ibibazo by'umutima, bityo kwisuzumisha buri gihe kwa muganga w'indwara z'umutima ni ngombwa. Imiti imwe n'imwe y'umuvuduko w'amaraso ishobora gufasha kurinda imitsi y'umutima.
• Ubuvuzi bw'umubiri: Imyitozo ngororamubiri no kunanura ingingo bishobora gufasha imitsi n'ingingo gukomeza koroherwa. Ni ngombwa gusaba inama umuvuzi w'umubiri kuri ibi.
• Kubagwa: Hari ubwo kubagwa bishobora kuba ngombwa kugira ngo imitsi ifatanye neza (contractures) ikosorwe kandi uruti rw'umugongo rukosorwe (scoliosis).

Ibintu ushobora gukora nk'ababyeyi

Ni ibisanzwe kumva uremerewe cyane iyo umenye ko umwana wawe afite indwara nk'iya DMD. Ariko ibuka ko kugira iyi ndwara bitavuze ko umwana wawe adashobora kujya ku ishuri, gukina n'inshuti, cyangwa kwishima. Ukurikije gahunda nziza yo kuvura, ushobora gufasha umwana wawe kubaho ubuzima busanzwe.

• Bafashe guhagarara no kugenda uko bishoboka kose: Ibi bifasha amagufwa yabo gukomeza gukomera no kugumana umugongo ugororotse. Niba bikenewe, ushobora gukoresha ibikoresho nka 'braces' cyangwa 'standing walkers'.
• Tanga intungamubiri nziza:Nta ndyo yihariye ihari ku mwana ufite ikibazo cy'uburwayi bw'umutima. Ariko, indyo yuzuye ishobora gufasha mu kugenzura ibiro no kwirinda ibintu nko kutagira impatwe. Vugana n'inzobere mu mirire kugira ngo ushyireho gahunda y'ifunguro rikwiriye umwana wawe.
• Komeza gukora cyane: Shaka inama ku muvuzi w’umubiri kandi ushyire umwana wawe mu myitozo ngororamubiri idatuma imitsi irushaho kugorana.
• Komera kandi: Kuganira n'indi miryango ifite abana nk'aba no gusangira ubunararibonye bizagukomeza cyane. Jya mu matsinda y'abaterankunga kuri ibyo. Niba bibaye ngombwa, ntutindiganye gushaka ubufasha bw'inzobere mu by'imitekerereze y'abantu.

Mu gusoza, ubuzima burwaye indwara ya DMD buragoye. Ariko iyo habayeho ubuvuzi bukwiye, ubuvuzi bw'umubiri, imirire myiza, no kwitabwaho mu buryo bwuje urukundo, aba bana bashobora kubaho ubuzima bwiza kandi bushimishije nk'abandi bose muri iki gihe. Twese dufite icyizere ko hamwe n'iterambere rya siyansi, hazavuka uburyo bwiza bwo kuvura mu gihe kizaza.