Rett Syndrome ni iki? Ibimenyetso, Intandaro, n'Ubuvuzi

Rett Syndrome ni indwara idasanzwe y’impyiko iterwa n’impamvu z’impyiko zigira ingaruka ku mikurire y’ubwonko, imiterere y’umubiri, n’uburyo bwo gutanga amakuru. Iyi ndwara isanzwe igaragara mu myaka ibiri ya mbere y’ubuzima bw’umwana, nyuma y’igihe runaka umwana aba agaragaza iterambere risanzwe.

Abana benshi bafite Rett Syndrome batangira gutera imbere nk’abandi bana mu mezi 6 kugeza kuri 18. Nyuma yaho, batangira guta ubumenyi bari basanzwe bafite, nko kugenda, kuvuga, cyangwa gukoresha intoki mu buryo bufatika. Nubwo ibi bishobora gutera impungenge mu muryango, gusobanukirwa Rett Syndrome bifasha kumenya icyo kwitega no gutanga ubufasha bukwiye.

Rett Syndrome ni iki?

Rett Syndrome ni indwara iterwa n’impinduka ku gene yitwa MECP2. Iyi gene itanga amabwiriza yo gukora poroteyine ikenewe mu mikurire myiza y’ubwonko.

Iyi ndwara igaragara cyane ku bakobwa kuko iyi gene iherereye kuri chromosome X. Abakobwa bafite chromosome X ebyiri, bityo rimwe na rimwe bashobora kugira ubushobozi bwo guhangana n’iyi gene idakora neza. Abahungu, bafite chromosome X imwe gusa, ntibabasha kubaho bafite iyi mpinduka ya gene.

Rett Syndrome igaragara ku bakobwa umwe kuri 10.000 kugeza kuri 15.000 ku isi hose. Iyi ndwara ifatwa nk’imwe mu mpamvu nyamukuru z’ubumuga bwo mu mutwe bukomeye ku bakobwa. Yamenyekanye bwa mbere na Dr. Andreas Rett mu 1966, nubwo itamenyekanye cyane kugeza mu myaka ya 1980.

Ibimenyetso bya Rett Syndrome ni ibihe?

Ibimenyetso bya Rett Syndrome bisanzwe bigaragara mu byiciro, abana benshi bagaragaza ibimenyetso hagati y’amezi 6 n’imyaka 2. Uburambe bw’umwana burashobora gutandukana, ariko hariho ibimenyetso bisanzwe bifasha abaganga kumenya iyi ndwara.

Ibimenyetso by’ingenzi birimo:

• Gutakaza ubushobozi bwo gukoresha intoki mu buryo bufatika, bikasimbuzwa imiterere y’intoki nk’uko guhambira, gukoma, cyangwa gukubita.
• Gutinda gukura, cyane cyane mu bunini bw’umutwe (microcephaly).
• Gutakaza ubushobozi bwo kuvuga no gutanga amakuru.
• Ibibazo byo kugenda cyangwa gutakaza ubushobozi bwo kugenda.
• Imiterere y’intoki n’ibirenge.
• Ibibazo byo guhumeka, harimo gufata umwuka cyangwa guhumeka cyane.
• Ibibazo byo kurara n’impinduka mu buryo bwo kurara.
• Ibitero by’indwara z’ubwonko, bigaragara kuri 60-80% by’abarwayi.
• Scoliosis (umugongo w’igice).
• Ibibazo byo mu gifu, harimo impatwe n’ibibazo byo kurya.

Ibimenyetso bitari byo bisanzwe ariko bishoboka birimo gukorora amenyo, ibiganza n’ibirenge bikonje, n’igihe cyo kurira cyane cyangwa gutaka. Bamwe mu bana bashobora kugira igihe cyo kureba cyane cyangwa bagaragara nk’aho ‘babyuka’ bakaba bafite imbaraga nyinshi mu bihe bimwe na bimwe.

Ni ngombwa kwibuka ko nubwo ibi bimenyetso bishobora kuba bigoye, abana benshi bafite Rett Syndrome bakomeza kwiga no gutera imbere mu buryo bwabo bwite. Bakomeza kumenya no guhuza n’abantu bakunda, nubwo badashobora kwivuga.

Ubwoko bwa Rett Syndrome ni ubuhe?

Rett Syndrome isanzwe igabanywamo ubwoko bubiri bushingiye ku mpinduka za gene n’igihe ibimenyetso bigaragara. Gusobanukirwa ubwoko bw’iyi ndwara bifasha abaganga gutanga ubuvuzi bukwiye kandi bifasha imiryango kumenya icyo kwitega.

Rett Syndrome isanzwe ni yo ndwara isanzwe, igize 85% by’abarwayi. Abana bafite ubu bwoko basanzwe batera imbere neza mu mezi 6 kugeza kuri 18, hanyuma batangira guta ubumenyi bari basanzwe bafite. Bagaragaza imiterere y’intoki n’ibindi bimenyetso bisanzwe.

Rett Syndrome idasanzwe irimo ubwoko butandukanye budakurikiza uburyo busanzwe. Ibi bishobora kuba birimo ubwoko butarimo ibibazo byo kuvuga (aho ubushobozi bwo kuvuga bugumaho), ubwoko butangira hakiri kare (aho ibitero by’indwara z’ubwonko bitangira hakiri kare), cyangwa ubwoko kavukire (aho ibimenyetso bigaragara kuva ku ivuka). Ubu bwoko bushobora kuba bufite ubukana buke cyangwa bukomeye kurusha Rett Syndrome isanzwe.

Hari kandi indwara yitwa Rett-like syndrome, ifite ibimenyetso bimwe na bimwe bisa na Rett Syndrome ariko iterwa n’impinduka kuri gene zitandukanye. Ibi bifasha abaganga gusobanukirwa ko ibimenyetso bisa bishobora guturuka ku mpamvu zitandukanye.

Intandaro ya Rett Syndrome ni iyihe?

Rett Syndrome iterwa n’impinduka (mutations) kuri gene MECP2, iherereye kuri chromosome X. Iyi gene itanga amabwiriza yo gukora poroteyine ifasha kugenzura izindi gene mu bwonko.

Mu gihe kinini, hafi 99%, impinduka ya gene iba itera ubwabyo. Ibi bivuze ko idaturuka ku babyeyi ahubwo iba itera ubwabyo mu gihe cyo gukora uturemangingo tw’imyororokere cyangwa hakiri kare mu iterambere ry’umwana. Ababyeyi ntibateza iyi ndwara, kandi nta kintu bari bakoze cyangwa batakoze cyayiteza.

Gake cyane, munsi ya 1% by’abarwayi, Rett Syndrome ishobora kuvanwa ku mubyeyi ufite impinduka ya gene. Abo babyeyi basanzwe bafite ibimenyetso bike cyangwa nta bimenyetso na bimwe kubera igikorwa cyitwa X-inactivation, aho chromosome X imwe iba ‘izimiye’ muri buri uturemangingo.

Poroteyine MECP2 isanzwe ifasha kugenzura igihe izindi gene zizima cyangwa zizimye mu uturemangingo tw’ubwonko. Iyo iyi poroteyine idakora neza, ihungabanya iterambere n’imikorere y’ubwonko, bigatera ibimenyetso bya Rett Syndrome.

Ni ryari ukwiye kujya kwa muganga kubera Rett Syndrome?

Ukwiye kuvugana na muganga w’umwana wawe niba ubona ko umwana wawe atakaza ubumenyi yari asanzwe afite cyangwa ibimenyetso by’iterambere. Kumenya hakiri kare bifasha guha umwana wawe ubufasha bukwiye n’ubuvuzi vuba bishoboka.

Ibimenyetso byihariye bisaba ubuvuzi bw’ihutirwa birimo gutakaza ubushobozi bwo gukoresha intoki mu buryo bufatika, gutinda gukura kw’umutwe, cyangwa gutakaza ubushobozi bwo kuvuga umwana yari asanzwe afite. Niba umwana wawe aretse kureba, atakaza inyota yo gukina, cyangwa agatangira kugira imiterere y’intoki, ibi ni ibimenyetso by’ingenzi ukwiye kuvugana na muganga wawe.

Ukwiye kandi gushaka ubuvuzi niba umwana wawe agira ibibazo byo guhumeka, ibitero by’indwara z’ubwonko, cyangwa ibibazo bikomeye byo kurara. Ibibazo byo kurya, impinduka zikomeye mu miterere y’imitsi, cyangwa gusubira inyuma mu bushobozi bwo kugenda cyangwa kwicara bisaba isuzuma rya muganga.

Ntugatege amatwi niba uhangayikishijwe n’iterambere ry’umwana wawe. Izera icyo umutima wawe ukubwira. Ubufasha bwo kuvura hakiri kare bushobora kugira uruhare rukomeye mu gufasha abana bafite Rett Syndrome kugera ku bushobozi bwabo bwuzuye, mbere y’uko hamenyekana neza indwara.

Ibyago bya Rett Syndrome ni ibihe?

Ibyago nyamukuru bya Rett Syndrome ni ukuba umukobwa, kuko iyi ndwara igaragara cyane ku bakobwa. Ibi bibaho kuko gene MECP2 iherereye kuri chromosome X, kandi abakobwa bafite chromosome X ebyiri mu gihe abahungu bafite imwe.

Imyaka ni ikindi kintu gikwiye kuzirikanwa. Abenshi mu barwayi ba Rett Syndrome bamenyekana hagati y’amezi 6 n’imyaka 4, iyo gusubira inyuma mu iterambere bigaragara. Iyi ndwara ntigenda itabonwa nyuma y’ubwana.

Amateka y’umuryango agira uruhare ruto cyane, kuko abenshi mu barwayi baba barayiterwa ubwabo. Ariko, niba umubyeyi afite impinduka ya gene MECP2, hari amahirwe 50% yo kuyiha buri mwana. Nubwo bimeze bityo, ubukana bw’iyi ndwara bushobora gutandukana cyane.

Nta byago by’ibidukikije bizwi bya Rett Syndrome. Iyi ndwara ntiyaterwa n’icyo ababyeyi bakoze cyangwa batakoze mu gihe cyo gutwita, kandi ntibihana n’indwara, imvune, cyangwa izindi mpamvu zo hanze. Ibi bishobora guhumuriza imiryango ishobora kwibaza niba bari bashoboye kwirinda iyi ndwara.

Ingaruka zishoboka za Rett Syndrome ni izihe?

Nubwo Rett Syndrome ubwayo ari yo mpamvu nyamukuru y’ubuhangayitse, hari ingaruka nyinshi zishobora kuvuka mu gihe, zisaba kwitabwaho n’ubuvuzi buhoraho. Gusobanukirwa ibi bifasha imiryango kwitegura no gushaka ubufasha bukwiye.

Ingaruka zisanzwe imiryango myinshi ihura nazo harimo:

• Ibitero by’indwara z’ubwonko, bigaragara kuri 60-80% by’abarwayi kandi bishobora gusaba imiti.
• Scoliosis (umugongo w’igice) ukomeza kuba mubi uko umuntu akura kandi bishobora gusaba imyenda cyangwa kubagwa.
• Ibibazo byo guhumeka, harimo imiterere idasanzwe yo guhumeka n’uburwayi bwo guhagarika guhumeka mu gihe cyo kurara.
• Ibibazo byo kurya n’imirire idahagije bishobora gusaba indyo idasanzwe cyangwa imiyoboro yo kurya.
• Ibibazo byo mu gifu, cyane cyane impatwe ikomeye.
• Ibibazo byo kurara bishobora kugira ingaruka ku muryango wose.
• Ubusembwa bw’amagufa n’ibyago byo kuvunika.
• Ibibazo by’umutima, bigaragara kuri bamwe mu barwayi.

Ingaruka zidashimishije ariko zikomeye zishobora kuba harimo reflux ikomeye, ibibazo by’umwijima, cyangwa urupfu rutunguranye, nubwo iyi ngaruka ya nyuma ari nke. Bamwe mu barwayi bashobora kugira ubwoba cyangwa ibibazo byo mu mutwe uko bakura.

Inkuru nziza ni uko, hakoreshejwe ubuvuzi bukwiye n’ubufasha, ingaruka nyinshi zishobora guhangana nazo neza. Gukurikirana buri gihe n’itsinda ry’abaganga ryahuzwe bifasha kwirinda ibibazo cyangwa kubimenya hakiri kare iyo ubuvuzi bugira ingaruka.

Rett Syndrome imenyekanwa gute?

Kumenya Rett Syndrome bisaba kwitondera iterambere ry’umwana wawe n’isuzuma ryo kwemeza impamvu ya gene. Ubu buryo busanzwe butangira iyo abaganga babonye uburyo busanzwe bw’iterambere risanzwe hakurikiyeho gusubira inyuma.

Muganga wawe azabanza gufata amateka y’ubuzima bw’umwana wawe n’isuzuma ry’umubiri. Azashaka kumenya iterambere ry’umwana wawe hakiri kare, igihe ibimenyetso byagaragaye bwa mbere, n’uburyo byakomeje mu gihe. Ibi bimufasha gusobanukirwa uburyo impinduka ziba.

Kumenya neza indwara biterwa n’isuzuma rya gene, cyane cyane gushaka impinduka kuri gene MECP2. Ibi bisanzwe bikorwa hakoreshejwe igipimo cy’amaraso. Isuzuma rya gene riremeza indwara kuri 95% by’abakobwa bafite ibimenyetso bya Rett Syndrome isanzwe.

Ibindi bipimo bishobora kuba birimo isuzuma ry’ubwonko nk’MRI, isanzwe isa neza mu ntangiriro, n’isuzuma rya EEG kugira ngo harebwe ibimenyetso by’indwara z’ubwonko. Muganga wawe ashobora kandi kugusaba ko umwana wawe asuzumwa n’inzobere nk’abaganga b’indwara z’ubwonko, abaganga b’impyiko, cyangwa abaganga b’abana kugira ngo hamenyekane neza uko umwana wawe ameze.

Ubuvuzi bwa Rett Syndrome ni ubuhe?

Kuri ubu, nta muti uravura Rett Syndrome, ariko ubuvuzi butandukanye bushobora gufasha guhangana n’ibimenyetso no kunoza ubuzima. Intego ni ugufasha umwana wawe kugera ku bushobozi bwe bwuzuye mu gihe amerewe neza kandi afite ubuzima bwiza.

Ubuvuzi busanzwe bukorwa n’itsinda ry’inzobere zikorera hamwe. Ibi bishobora kuba birimo abaganga b’indwara z’ubwonko mu guhangana n’ibitero by’indwara z’ubwonko, abaganga b’amagufa mu bibazo by’amagufa n’umugongo, n’abavura mu gufasha iterambere. Kugira itsinda ryahuzwe bihamya ko ibintu byose by’ubuzima bw’umwana wawe byitabwaho.

Ubuvuzi bugamije guhangana n’ibimenyetso byihariye:

• Imiti yo kurwanya ibitero by’indwara z’ubwonko niba biriho.
• Imiti yo guhangana n’ibibazo byo guhumeka cyangwa ibibazo by’umutima.
• Ubuvuzi bw’ibibazo byo mu gifu nk’impatwe cyangwa reflux.
• Ubufasha mu mirire, bishobora kuba birimo indyo idasanzwe cyangwa imiyoboro yo kurya.
• Imiti yo kurara niba ibibazo byo kurara bikomeye.

Ubufasha bwo kuvura bugira uruhare rukomeye mu kubungabunga ubushobozi n’ubumere. Ubuvuzi bw’umubiri bufasha kubungabunga ubushobozi bwo kugenda no kwirinda gucika intege. Ubuvuzi bw’imirimo y’intoki bugamije ubumenyi bwo mu buzima bwa buri munsi n’imikorere y’intoki. Ubuvuzi bw’amagambo, nubwo gusubiza ubushobozi bwo kuvuga ari bito, bushobora gufasha gutanga amakuru mu buryo butandukanye.

Ubushakashatsi bwa vuba aha bwagaragaje amahirwe mashya mu buvuzi bushya. Ubuvuzi bwa gene n’izindi nzira zihariye biracyiga, bigatanga icyizere cy’ubuvuzi bukoranye neza mu gihe kizaza.

Uko watanga ubufasha mu rugo mu gihe cya Rett Syndrome

Kurema ibidukikije byo mu rugo bishigikira bishobora kugira uruhare rukomeye mu mibereho n’iterambere ry’umwana wawe. Uburyo bworoshye n’imigenzo isanzwe ishobora gufasha umwana wawe gutera imbere mu gihe igabanya umunaniro ku muryango wose.

Imigenzo ya buri munsi igomba kwita ku kubungabunga ubushobozi bw’umwana wawe mu gihe ihuza n’ibibazo afite. Ibi birimo gushyiraho amasaha yo kurya ahambaye hamwe n’ibiribwa byoroshye kurya, kurema ibidukikije bituje bigabanya guhagarika, no kubungabunga gahunda yo kurara kugira ngo bifashe mu bibazo byo kurara.

Guhindura ibintu by’umutekano mu rugo rwawe ni ibintu by’ingenzi. Ibi bishobora kuba birimo gushyira ibintu byoroshye ku mpande z’ibintu bikomeye, gufata ibintu bishobora kugwa, no gushyiraho imiryango y’umutekano niba umwana wawe ashobora kugenda. Niba umwana wawe agira ibitero by’indwara z’ubwonko, tekereza ku bikoresho byo kurinda kandi ube wizeye ko abagize umuryango bazi ubufasha bwa mbere bw’ibitero by’indwara z’ubwonko.

Uburyo bwo gutanga amakuru bushobora kugufasha guhuza n’umwana wawe. Abana benshi bafite Rett Syndrome basobanukirwa byinshi kurusha uko bashobora kubivuga. Koresha ururimi rworoshye, bahe umwanya wo gusubiza, kandi banza kureba ibimenyetso bitavugwa nk’imiterere y’amaso cyangwa imiterere y’isura. Imiryango imwe irabona intsinzi ikoresheje ibikoresho byo gutanga amakuru cyangwa amakarita y’amashusho.

Ntucikwe no kwita kuri wewe n’abandi bagize umuryango. Kwita ku mwana ufite Rett Syndrome bishobora kuba bigoye cyane ku mubiri no mu mutwe. Shaka ubufasha mu bindi miryango, tekereza ku buryo bwo gufashwa, kandi ujye wibuka ko gufata akaruhuko bigufasha gutanga ubufasha bwiza mu gihe kirekire.

Uko wakwitegura gusura muganga

Kwitunganya gusura muganga bishobora gufasha guhamya ko ukoresha neza igihe cyawe n’abaganga. Gutegura neza bifasha abaganga gusobanukirwa neza uko umwana wawe ameze no gufata ibyemezo by’ubuvuzi byiza.

Mbere yo gusura muganga, andika impinduka zose wabonye mu bimenyetso, imyitwarire, cyangwa ubushobozi bw’umwana wawe. Komereza gukora ibitabo byoroshye by’ibintu nk’umubare w’ibitero by’indwara z’ubwonko, uburyo bwo kurara, imigenzo yo kurya, cyangwa imyitwarire mishya. Aya makuru afasha abaganga gukurikirana iterambere ry’umwana wawe no guhindura ubuvuzi uko bikenewe.

Zana urutonde rw’imiti yose ukoresha, harimo n’ingano n’igihe uyitanga. Harimo kandi ibintu byose by’inyongera, imiti yo hanze, cyangwa ubuvuzi bw’ibindi bintu ukoresha. Ibi bifasha kwirinda guhuza imiti mbi kandi bihamya ko ubuvuzi bwose bukorana neza.

Tegura ibibazo byawe mbere. Andika ibibazo byawe by’ingenzi mbere, kuko igihe cyo gusura muganga gishobora kuba gito. Baza ibibazo ku bimenyetso byihariye bikuhangayikishije, uburyo bwo kuvura, cyangwa ubufasha bwo gufashwa. Ntugatinye gusaba ko basobanura niba amagambo y’ubuvuzi akugora.

Tekereza kuzana umuntu wo mu muryango cyangwa inshuti kugira ngo aguhe ubufasha, cyane cyane mu gihe cy’ibisuzuma by’ingenzi. Bashobora kugufasha kwibuka amakuru yavuzwe no kugutera inkunga mu mutwe. Imiryango imwe irabona ko ari byiza kwandika ibintu by’ingenzi byavuzwe (wabiherewe uburenganzira) kugira ngo ubisubiremo nyuma.

Icyo ukwiye kumenya cyane kuri Rett Syndrome

Rett Syndrome ni indwara igoye, ariko kuyisobanukirwa biha imiryango imbaraga zo gutanga ubufasha bukwiye. Nubwo iyi ndwara itera ubumuga bukomeye, abana benshi bafite Rett Syndrome bakomeza kwiga, gukura, no guhuza n’imiryango yabo.

Ikintu cy’ingenzi cyo kwibuka ni uko umwana wawe aguma ari umwana wawe, uko yaba ameze kose. Ashobora gutanga amakuru mu buryo butandukanye kandi akenera ubufasha bwinshi, ariko akenshi asobanukirwa kandi yumva byinshi kurusha uko ashobora kubivuga. Urukundo rwawe, kwihangana, no guharanira umwana wawe bigira uruhare rukomeye mu mibereho ye.

Ubushakashatsi kuri Rett Syndrome bukomeza gutera imbere, ubuvuzi bushya burakorwa kandi bugatera imbere. Nubwo tutagifite umuti, icyizere gikomeza kwiyongera uko turushaho kumenya iyi ndwara no gukora uburyo bwiza bwo guhangana n’ibimenyetso byayo.

Wibuke ko ntugomba kunyura muri uru rugendo wenyine. Ibikundi by’ubufasha, abaganga, n’ibindi bikoresho biriho kugira ngo bagufashe wowe n’umuryango wawe. Gukoresha ibyo bikoresho bishobora gutanga ubufasha bw’ingirakamaro n’inkunga mu gihe cy’ibibazo.

Ibibazo byakunda kubazwa kuri Rett Syndrome

Rett Syndrome ishobora kwirindwa?

Rett Syndrome ntishobora kwirindwa kuko iterwa n’impinduka za gene ziterwa ubwazo. Mu gihe gake iba ivanwe ku babyeyi, inama z’abaganga z’impyiko zishobora gufasha imiryango gusobanukirwa ibyago byabo, ariko abenshi mu barwayi baba batagira amateka y’iyi ndwara mu muryango.

Abana bafite Rett Syndrome basobanukirwa ibibaho?

Yego, abana benshi bafite Rett Syndrome basobanukirwa byinshi kurusha uko bashobora kubivuga. Bakomeza kumenya abagize umuryango, gusubiza amajwi bazi, no kwerekana ibyo bakunda. Ubushobozi bwabo bwo gutekereza bushobora kuba bwiza kurusha uko ibimenyetso by’umubiri byerekana.

Igihe cyo kubaho cy’umuntu ufite Rett Syndrome ni iki?

Abantu benshi bafite Rett Syndrome babaho mu gihe kirekire, bamwe babaho kugeza ku myaka 40, 50, cyangwa arenga. Igihe cyo kubaho kiringaniye ku bukana bw’ibimenyetso n’uburyo ingaruka zihanganirwa. Ubuvuzi bukwiye n’ubufasha bishobora kunoza cyane ubuzima n’igihe cyo kubaho.

Umwana wanjye ufite Rett Syndrome azashobora kujya kwiga?

Abana benshi bafite Rett Syndrome bashobora kujya kwiga bafite ubufasha bukwiye. Gahunda z’uburezi bw’abana bafite ubumuga zishobora guhuzwa n’ibyo bakeneye, zishingiye ku bushobozi bwabo. Gahunda y’uburezi izaba ishingiye ku bimenyetso n’ubushobozi bw’umwana wawe.

Hari icyizere cy’ubuvuzi bushya bwa Rett Syndrome?

Yego, ubushakashatsi kuri ubuvuzi bwa Rett Syndrome bukora cyane kandi bugira icyizere. Abahanga barimo kwiga ubuvuzi bwa gene, imiti ihariye, n’izindi nzira zigezweho. Nubwo ubu buvuzi buracyiga, ubushakashatsi butanga icyizere cy’ubuvuzi bukoranye neza mu myaka iri imbere.