Sindromu Ya Rett

Sindrome ya Rett ni indwara y'imvange ikomeye y'imiterere y'ubwonko n'iterambere, idasanzwe kandi igira ingaruka ku buryo ubwonko bwiteza imbere. Iyi ndwara itera igihombo gikomeza cy'ubushobozi bwo kugenda no kuvugira. Sindrome ya Rett ikunda kwibasira abakobwa. Abana benshi bafite syndrome ya Rett baba bagaragara nk'abatera imbere nk'uko bikwiye mu mezi atandatu ya mbere y'ubuzima. Nyuma y'aho, aba bana bahomba ubushobozi bari basanganywe - nko kwigendera, kugenda, gutumanaho cyangwa gukoresha intoki zabo. Mu gihe, abana bafite syndrome ya Rett bagira ibibazo bikomeza byo gukoresha imikaya igenzura imiterere, ubufatanye n'itumanaho. Sindrome ya Rett ishobora kandi guteza ibibazo by'ubwonko n'ubumuga bwo mu mutwe. Imiterere idasanzwe y'intoki, nko gukorakora cyangwa gukoma inshuro nyinshi, isimbura ikoreshwa ry'intoki rigamije intego. Nubwo nta muti uwo ari wo wose wa syndrome ya Rett, ubu buryo bwo kuvura bushakishwa. Ubu buryo bwo kuvura buherereye ku kunoza imiterere n'itumanaho, kuvura ibibazo by'ubwonko, no gutanga ubufasha n'ubuvugizi ku bana n'abakuze bafite syndrome ya Rett n'imiryango yabo.

Abana bafite Rett syndrome ubusanzwe bavuka nyuma y'inda idafite ikibazo n'ibyago byo kubyara. Abana benshi bafite Rett syndrome basa nkaho bakura kandi bitwara nkuko byitezwe mu mezi atandatu ya mbere. Nyuma yaho, ibimenyetso n'ibibazo bitangira kugaragara.

Impinduka zikomeye cyane zisanzwe zibaho hagati y'amezi 12 na 18, mu gihe cy'ibyumweru cyangwa amezi. Ibimenyetso n'uburemere bwabyo bitandukanye cyane ukurikije umwana.

Ibimenyetso n'ibibazo by'ingenzi birimo:

• Uburakari mu gukura. Ubwongereza bw'ubwonko buragabanuka nyuma yo kuvuka. Ubunini bw'umutwe buto ugereranije (microcephaly) rimwe na rimwe ni bwo bimenyetso bwa mbere ko umwana afite Rett syndrome. Uko abana bakura, habaho gutinda gukura mu bice by'umubiri.
• Gutakaza ubushobozi bwo kugenda no guhuza ibikorwa. Ibimenyetso bya mbere bikunze kuba harimo kugabanuka kw'ubushobozi bwo gukoresha intoki no kugabanuka kw'ubushobozi bwo gusambara cyangwa kugenda. Mu ntangiriro, uku gutakaza ubushobozi bibaho vuba, hanyuma bikomeza buhoro buhoro. Amaherezo imitsi iba igufi cyangwa ikomeye, ifite imiterere idasanzwe n'imikorere.
• Gutakaza ubushobozi bwo gutumanaho. Abana bafite Rett syndrome ubusanzwe batangira gutakaza ubushobozi bwo kuvuga, kureba mu maso no gutumanaho mu bundi buryo. Bashobora kutakunda abandi bantu, ibikinisho n'ibibakikuje. Bamwe mu bana bagira impinduka zikomeye, nko gutakaza ururimi mu buryo butunguranye. Uko igihe gihita, abana bashobora kongera kubona mu maso no guteza imbere ubuhanga bwo gutumanaho budakoresheje amagambo.
• Imiterere idasanzwe y'intoki. Abana bafite Rett syndrome ubusanzwe bagira imiterere idasanzwe y'intoki, idasanzwe, itandukanye ukurikije umwana. Imiterere y'intoki ishobora kuba harimo guhambira intoki, gukanda, gukubita cyangwa gukorera.

Ibindi bimenyetso n'ibibazo bishobora kuba birimo:

• Imiterere idasanzwe y'amaso. Abana bafite Rett syndrome bakunda kugira imiterere idasanzwe y'amaso, nko kureba cyane, gucira amaso, amaso y'impanga cyangwa gufunga ijisho rimwe rimwe.
• Ibibazo byo guhumeka. Ibi birimo gufata umwuka, guhumeka cyane (hyperventilation), guhumeka umwuka cyangwa amacandwe, no kunywa umwuka. Ibi bibazo bikunze kubaho mu gihe cyo kuba maso. Ibindi bibazo byo guhumeka nko guhumeka buhoro cyangwa igihe gito cyo guhagarika guhumeka (apnea) bishobora kubaho mu gihe cyo kuryama.
• Uburakari no kurira. Abana bafite Rett syndrome bashobora kuba barushaho guhangayika no kurakara uko bakura. Ibihe byo kurira cyangwa gutaka bishobora gutangira mu buryo butunguranye, nta mpamvu igaragara, kandi bikamara amasaha. Bamwe mu bana bashobora kugira ubwoba n'impungenge.
• Ibindi bikorwa bidakwiye. Ibi bishobora kuba birimo, kurugero, imyigaragarire y'isura idasanzwe, no guseka igihe kirekire, kunywa intoki, no gufata umusatsi cyangwa imyenda.
• Ubumuga bwo mu mutwe. Gutakaza ubumenyi bishobora guhuzwa no gutakaza ubushobozi bwo gutekereza, gusobanukirwa no kwiga.
• Ibitero by'indwara z'ubwonko. Abantu benshi bafite Rett syndrome bagira ibitero by'indwara z'ubwonko mu gihe runaka cy'ubuzima bwabo. Ubwoko butandukanye bw'ibitero bishobora kubaho kandi bihujwe n'impinduka kuri electroencephalogram (EEG).
• Umugozi w'umugongo uhindagurika (scoliosis). Scoliosis ni ikintu gisanzwe kuri Rett syndrome. Isanzwe itangira hagati y'imyaka 8 na 11 kandi ikomeza gukura uko imyaka yiyongera. Ubuganga bushobora kuba bukenewe niba ubuhinduka bukomeye.
• Gukubita kw'umutima bidakwiye. Iki kibazo kibuza ubuzima bw'abana n'abakuze benshi bafite Rett syndrome kandi bishobora gutera urupfu rutunguranye.
• Ibibazo byo kuryama. Ibibazo byo kuryama bishobora kuba birimo igihe kidakwiye cyo kuryama, gusinzira mu manywa no kuba maso nijoro, cyangwa kubyuka nijoro urira cyangwa utaka.
• Ibindi bimenyetso. Ubwoko butandukanye bw'ibindi bimenyetso bushobora kubaho, nko kugabanuka kw'ubushishozi bwo kubabara; intoki n'ibirenge bito bisanzwe bikonje; ibibazo byo kuruma no kunywa; ibibazo byo gukora mu nda; no gukorora amenyo.

Ibimenyetso n'ibibonwa bya Rett syndrome bishobora kuba bito mu ntangiriro. Reba umuganga wita ku mwana wawe ako kanya nimubona ibibazo by'umubiri cyangwa impinduka mu myitwarire nyuma y'ibyo bisa nk'aho ari iterambere risanzwe. Ibibazo cyangwa impinduka bishobora kuba birimo:

• Gutinda gukura kw'umutwe w'umwana wawe cyangwa izindi nzego z'umubiri
• Kugabanuka kw'ubufatanye cyangwa ubushobozi bwo kwimuka
• Imitwaro y'amaboko isubiramo
• Kugabanuka kureba mu maso cyangwa kubura inyota yo gukina nk'uko bisanzwe
• Gutinda kw'iterambere ry'ururimi cyangwa kubura ubushobozi bw'ururimi bwari busanzwe buhari
• Igihombo icyo ari cyo cyose cy'ibintu byari byamaze kugerwaho cyangwa ubumenyi

Indwara ya Rett ni indwara idasanzwe iterwa na gene. Indwara ya Rett isanzwe, kimwe n'uburyo bwayo butandukanye (indwara ya Rett idasanzwe) ifite ibimenyetso bidakomeye cyangwa bikomeye, bibaho bitewe n'impinduka runaka za gene (imiterere mibi). Impinduka za gene ziterwa na Rett bibaho ku buryo butunguranye, akenshi mu gene ya MECP2. Ingero nke cyane z'iyi ndwara iterwa na gene ziraturuka mu miryango. Impinduka za gene zisa nkaho ziterwa no kudakora neza kwa poroteyine ikenewe mu iterambere ry'ubwonko. Ariko, impamvu nyamukuru ntiyumvikana neza kandi iracyashakishwa.

Indwara ya Rett ni nkeya. Impinduka z'imiterere y'abantu zizwiho gutera iyi ndwara ni izihuha, kandi nta bintu byaziteye byamenyekanye. Mu mubare muto cyane w'ababafite, ibintu byakomotse ku miryango—urugero, kugira abagize umuryango hafi bafite indwara ya Rett—bishobora kugira uruhare.

Ingaruka z'indwara ya Rett zirimo:

• Ibibazo byo kuryama bituma umuntu ufite indwara ya Rett n'abagize umuryango we bahura n'akavuyo gakomeye mu kuryama.
• Kugira ikibazo cyo kurya, bigatuma umuntu atagira imirire myiza kandi akura gake.
• Ibibazo by'amara n'umwanya w'inkari, nko gucibwamo, indwara ya gastroesophageal reflux (GERD), kudafata neza umwanya w'inkari cyangwa amara, n'indwara y'umwijima.
• Kubabara bishobora kuzanwa n'ibibazo nk'iby'igifu cyangwa amagufwa yavunitse.
• Ibibazo by'imikaya, amagufwa n'ingingo.
• Ubwoba n'imyitwarire itari myiza bishobora kubangamira imibanire n'abandi.
• Kukeneye kwitabwaho ubuzima bwose no gufashwa mu bikorwa bya buri munsi.
• Kugira ubuzima bugufi. Nubwo abantu benshi bafite indwara ya Rett babaho bakura, bashobora kutabaho igihe kirekire nk'abandi bantu kubera ibibazo by'umutima n'izindi ngaruka z'ubuzima.

Nta buryo buzwi bwo gukumira indwara ya Rett. Mu bihe byinshi, impinduka z'imiterere y'umubiri ziterwa n'iyi ndwara ziba k'ubushake. Nubwo bimeze bityo, niba ufite umwana cyangwa undi muntu wo mu muryango ufite indwara ya Rett, ushobora kwibaza umuganga wawe ku bipimo by'imiterere y'umubiri n'inama ku bijyanye n'imiterere y'umubiri.

"Kumenya Rett syndrome bisobanura kureba neza uko umwana wawe akura n'iterambere rye no gusubiza ibibazo ku mateka y'ubuzima n'umuryango. Ubusanzwe ibyo gupima birabaho iyo habonetse ko umutwe utakura cyangwa hari ubumenyi bwabuze cyangwa ibimenyetso by'iterambere bitagaragara.\n\n Kugira ngo hamenyekane Rett syndrome, hagomba kuvanwamo izindi ndwara zifite ibimenyetso bisa.\n\n Kubera ko Rett syndrome ari indwara idaheruka, umwana wawe ashobora gukorerwa ibizamini bimwe na bimwe kugira ngo hamenyekane niba hari izindi ndwara ziterwa n'ibimenyetso bimwe na bimwe nk'ibya Rett syndrome. Zimwe muri izo ndwara zirimo:\n\nIbizamini umwana wawe akeneye biterwa n'ibimenyetso n'ibigaragara. Ibizamini bishobora kuba birimo:\n\nKumenya Rett syndrome isanzwe birimo ibi bimenyetso by'ingenzi, bishobora gutangira kugaragara igihe icyo ari cyo cyose kuva ku mezi 6 kugeza ku mezi 18:\n\nIbimenyetso byiyongera bisanzwe bibaho muri Rett syndrome bishobora gufasha kumenya iyi ndwara.\n\nAmabwiriza yo gupima Rett syndrome idasanzwe ashobora gutandukana gato, ariko ibimenyetso ni kimwe, bifite ibyiciro bitandukanye by'uburemere.\n\nNiba umuvuzi w'umwana wawe akekereza ko afite Rett syndrome nyuma yo gusuzuma, gukora ibizamini bya gene (gusesengura ADN) bishobora kuba bikenewe kugira ngo hamenyekane neza iyi ndwara. Iki kizamini gisaba gufata amaraso make mu mubiri w'umwana. Ayo maraso hanyuma ajyanwa muri laboratwari, aho ADN imenyekanishwa kugira ngo hamenyekane icyateye iyo ndwara n'uburemere bwayo. Gupima impinduka muri gene ya MEPC2 byemeza ko iyi ndwara ihari. Inama ku muryango ku bijyanye na gene ishobora kugufasha kumva impinduka za gene n'ingaruka zayo.\n\n* Izindi ndwara za gene\n* Indwara zo mu bwoko bwa autism\n* Cerebral palsy\n* Ibibazo by'umva cyangwa kubona\n* Indwara zihungabanya imikorere y'umubiri, nka phenylketonuria (PKU)\n* Indwara zitera kwangirika kw'ubwonko cyangwa umubiri (indwara zangiza)\n* Indwara z'ubwonko ziterwa n'imvune cyangwa indwara\n* Kwangirika kw'ubwonko mbere y'ivuka (prenatal)\n\n* Ibizamini by'amaraso\n* Ibizamini by'inkari\n* Ibizamini byo kubona ishusho nka magnetic resonance imaging (MRI) cyangwa computerized tomography (CT) scans\n* Ibizamini by'umva\n* Ibizamini by'amaso n'ububone\n* Ibizamini by'imikorere y'ubwonko (electroencephalograms, bizwi nka EEGs)\n\n* Kubura burundu cyangwa igice cy'ubushobozi bwo gukoresha intoki mu buryo bufite intego\n* Kubura burundu cyangwa igice cy'ubushobozi bwo kuvuga\n* Ibibazo byo kugenda, nko kugorana kugenda cyangwa kutamenya kugenda\n* Imitwaro y'intoki idafite intego, nko guhambira intoki, gukanda, gukubita cyangwa gukora, gushyira intoki mu kanwa, cyangwa gukaraba no gukora imikorere yo gukuraho umwanda"

Nubwo nta muti uwo ari wo wose uravura Rett syndrome, ubuvuzi burakemura ibimenyetso kandi bugatanga ubufasha. Ibi bishobora kunoza ubushobozi bwo kugenda, gutanga amakuru no kwitabira imibereho y'abantu. Icyifuzo cyo kuvurwa no gufashwa ntikirangira iyo abana bakuze—bisanzwe bikenewe mu buzima bwose. Kuvura Rett syndrome bisaba ubufatanye bw'abaganga benshi.

Ubuvuzi bushobora gufasha abana n'abakuze barwaye Rett syndrome burimo:

• Kwitabwaho n'abaganga buri gihe. Gucunga ibimenyetso n'ibibazo by'ubuzima bishobora gusaba itsinda ry'abaganga b'inzobere zitandukanye. Gukurikirana buri gihe impinduka z'umubiri nka scoliosis, ibibazo by'igifu (GI) n'ibibazo by'umutima birakenewe.
• Imiti. Nubwo imiti idashobora gukiza Rett syndrome, ishobora gufasha kugenzura bimwe mu bimenyetso bigize iyi ndwara. Imiti ishobora gufasha mu kwirinda indwara zifata ubwonko, gukomera kw'imitsi, cyangwa ibibazo byo guhumeka, ibitotsi, igifu (GI) cyangwa umutima.
• Ubuvuzi bw'umubiri. Ubuvuzi bw'umubiri no gukoresha amapingu cyangwa ibindi bikoresho bishobora gufasha abana bafite scoliosis cyangwa bakeneye inkunga y'intoki cyangwa ingingo. Mu bihe bimwe, ubuvuzi bw'umubiri bushobora kandi gufasha kubungabunga imitsi, guha umwanya mwiza wo kwicara, no kunoza ubuhanga bwo kugenda, umutekano n'ubushobozi bwo kugenda.
• Ubuvuzi bw'imirimo. Ubuvuzi bw'imirimo bushobora kunoza ikoreshwa ry'intoki mu bikorwa nko kwambara no kurya. Niba imitsi y'amaboko n'intoki ikora imikorere idasanzwe, ibikoresho bigabanya imitsi y'amaboko cyangwa intoki bishobora gufasha.
• Ubuvuzi bw'imvugo. Ubuvuzi bw'imvugo bushobora gufasha kunoza ubuzima bw'umwana binyuze mu kwigisha uburyo butandukanye bwo gutanga amakuru no gufasha mu mibanire y'abantu.
• Inkunga y'imirire. Imirire myiza ni ingenzi cyane ku mikurire myiza no kunoza ubushobozi bw'ubwenge, umubiri n'imibanire y'abantu. Isahani yuzuye ifite kalori nyinshi ishobora gusabwa. Ingamba zo kurya zituma hatabaho guhumeka nabi cyangwa kuruka ni ingenzi. Bamwe mu bana n'abakuze bashobora gukenera kugaburirwa binyuze mu muyoboro ushyirwa mu gifu (gastrostomy).
• Ubuvuzi bw'imyitwarire. Gukora no guteza imbere imyifatire myiza yo kuryama bishobora gufasha mu bibazo byo gusinzira. Ubuvuzi bushobora gufasha kunoza imyitwarire itari myiza.
• Serivisi z'ubufasha. Gahunda zo gutabara hakiri kare n'ishuri, imirimo y'abantu n'amahugurwa y'akazi bishobora gufasha mu kwishyira hamwe mu ishuri, mu kazi no mu bikorwa by'abantu. Ihindurwa ryihariye rishobora gutuma kwitabira bibaho.