Ese umukobwa wawe afite ibibazo by'imikurire? Ese twavuga ku ndwara ya Rett Syndrome?

Umwana wawe muto, cyane cyane umukobwa, ashobora kuba yarabonye ko hari ibintu bitinda mu mikurire cyangwa ingorane zo gukora ibintu yakoraga mbere. Tekereza, umwana wamaze amezi atandatu ameze neza ahita ahagarika kwiga ibintu bishya ndetse akibagirwa ibintu yize mbere. Ni ibisanzwe ko umubyeyi cyangwa se yumva afite ubwoba n'impungenge iyo abonye ikintu nk'iki. Uyu munsi tugiye kuvuga ku ndwara idakunze kugaragara cyane, ariko y'ingenzi kumenya, yibasira cyane abakobwa. Iyi ni yo twita Rett Syndrome .

Rett Syndrome ni iki? Mu magambo make...

Mu magambo make, Rett Syndrome ni indwara idakunze kugaragara mu buryo bw'uturemangingo n'ubwonko . Yibasira cyane abakobwa. Iterwa n'uburyo butandukanye bw'uturemangingo mu mubiri wacu, cyane cyane gene yitwa `MECP2`. Iyi gene ya `MECP2` igira uruhare runini mu iterambere ry'ubwonko bwacu no guhanahana amakuru hagati y'uturemangingo tw'imitsi, ni ukuvuga isano iri hagati y'uturemangingo tw'imitsi (synapse) . Rero, iyo habayeho impinduka muri iyi gene, igira ingaruka ku iterambere ry'ubwonko bw'umwana.

Muri iki kibazo, amezi make ya mbere y'ubuzima bw'umwana, ubusanzwe kugeza ku mezi atandatu, akura nk'abandi bana. Bakora ibintu bijyanye n'imyaka yabo, nko gukurura, kumwenyura no kwimura amaguru n'amaboko yabo. Ariko, nyuma y'amezi agera kuri atandatu, umwana atangira gutakaza ubuhanga n'ubushobozi yari yarize mbere. Urugero, ubushobozi bwo gufata igikinisho n'amaboko yombi, gusuhuza nyina, no kuvuga amagambo buragabanuka. Ibi bimenyetso bigaragara mu byiciro bitandukanye uko umwana akura. Ariko, ikintu kimwe ugomba kwibuka ni uko nubwo ibi bimenyetso bireka kwiyongera (bikomeza kwiyongera) uko igihe kigenda gihita, ntibishira burundu. Kubwibyo, aba bana bakeneye kwitabwaho no gushyigikirwa byihariye mu buzima bwabo bwose.

Ni ibihe bimenyetso by'indwara ya Rett Syndrome?

Nkuko byavuzwe mbere, umwana ashobora gukura neza kugeza ku mezi atandatu. Ibimenyetso bya mbere bya Rett Syndrome ni ugutinda mu mikurire . Ibi bivuze ko umwana atinda gukora ibintu bijyanye n'imyaka ye, urugero, kudakara mu gihe abandi bana barimo kukara, kuzunguza amaboko, cyangwa gutangira kuvuga.

Uko umwana agenda akura, ibimenyetso by'ihindagurika ry'iterambere, aho ibyo yize byongeye gutakara, bigaragara neza.

Ibimenyetso bigira ingaruka ku mitsi y'umwana, ku ngendo ze, no ku myitwarire ye:

• Ibibazo byo kuringaniza no guhuza imikorere mu gihe ugenda: Kugorwa no guhagarara no kugenda. Bishobora kugwa kenshi.
• Ingorane zo kuvuga:Biba bigoye kuvuga amagambo no kugaragaza ibitekerezo. Hari abana bashobora no gutakaza ubushobozi bwo kuvuga burundu.
• Kugorwa no kumira cyangwa guhekenya ibiryo: Ibi bishobora gutuma umwana atabona intungamubiri zikenewe, agatakaza ibiro, kandi akabura imirire myiza .
• Uburemere bw'imitsi cyangwa gukomera kwayo (spasticity): kudashobora kugenzura amaguru n'amaboko neza.
• Kugorwa no gukora ingendo zisanzwe ukoresheje itegeko (apraxia): Urugero, kudashobora kubikora iyo ubwiwe "guzunguza ukuboko kwawe," ariko rimwe na rimwe ukaba ushobora kuzunguza ukuboko kwawe uhagaze.
• Ingendo zo mu ntoki zisubiramo: Ingendo zo mu ntoki zisubiramo nko gukanda, gukanda no gukoma amashyi ni byo biranga iyi ndwara.

Ibindi bimenyetso:

• Ibibazo byo gusinzira: Kudasinzira neza nijoro, kubyuka kenshi.
• Ibibazo by'igogora: ibintu nko kuruhuka no kutagira impatwe .
• Ubumuga bwo mu mutwe: Ubushobozi bwo kwiga bushobora kugabanuka.
• Kubura amahoro no kurakara kenshi.
• Scoliosis: Uruti rw'umugongo ruzunguruka ku ruhande.
• Gukura buhoro: Ibintu nk'uburebure no kwiyongera ibiro bishobora kuba buhoro ugereranije n'abandi bana.

Ibimenyetso rimwe na rimwe bishobora gushyira ubuzima mu kaga birimo:

• Ingorane zo guhumeka: Guhumeka nabi, guhumeka nabi, nibindi.
• Ugutera kw'umutima kutumvikana neza.
• Indwara zo mu mutwe.

Ese abana barwaye Rett Syndrome bafite imiterere yihariye mu maso?

Abana barwaye Rett Syndrome bashobora kugira umutwe muto ugereranije n'indi ngingo y'umubiri wabo. Ibi byitwa mikorosefali . Ibi bishobora gutuma imiterere y'isura igaragara gato. Ariko, nta imiterere yihariye y'isura igaragara muri iyi ndwara, nko "uku ni ko isura isa."

Hari igihe ibimenyetso bya Rett Syndrome bishobora gusa n'iby'indi ndwara yitwa Angelman Syndrome . Izo ndwara zombi zifite ibintu bihuriyeho, nko kutavuga no kuvugana, gutinda mu mikurire, gucika intege, no gusinzira. Ariko, Angelman Syndrome ifite imiterere yihariye yo mu maso, nko amaso akomeye, umunwa mugari, n'icyuho kinini hagati y'amenyo. Rett Syndrome ntabwo ifite imiterere yihariye yo mu maso.

Intambwe za Rett Syndrome

Iyi ndwara inyura mu byiciro bitandukanye uko umwana akura. Kuri buri cyiciro, umwana ashobora kugaragaza ibimenyetso bitandukanye. Ariko, si abana bose banyura muri ibi byiciro byose mu buryo bumwe. Urugero, bamwe mu bana barwaye Rett Syndrome bashobora kutazigera babasha kugenda.

Ibyiciro bya Rett Syndrome:

1. Icyiciro cya mbere - Icyiciro cyo gutangira: Ibi bitangira hagati y'amezi 6 na 18. Imikurire y'umwana iragabanuka. Urugero, gukurura biratinda, kandi ubushobozi bwo kureba umubyeyi bugabanuka. Imitsi y'umwana iragabanuka ( imitsi mike ), kandi ingorane zo kugaburira zishobora kubaho.

2. Icyiciro cya II - Icyiciro gikomeza vuba: Ibi bikunze kubaho hagati y'umwaka 1 na 4. Umwana ashobora gutakaza ubushobozi bwo kuvuga no gukoresha amaboko ye. Bashobora gupfumbata ibipfunsi kenshi. Bamwe mu bana bashobora kandi kugaragaza imyitwarire nk'iy'abana barwaye indwara ya Autism Spectrum Disorder, nko kubura ubushake bwo gusabana n'abandi.

3. Icyiciro cya gatatu - Icyiciro cy’igihe gito gihoraho: Ibi bikunze kubaho hagati y’imyaka 2 na 10. Bimwe mu bimenyetso bikomeye mu cyiciro cya kabiri, urugero, ubuhanga mu itumanaho n’ubushobozi bwo gukoresha imiyoboro y’amaraso, bishobora kwiyongera gato. Bashobora kugaragaza ko bashishikajwe no kongera kubana n’abandi. Gufatwa n’indwara zo mu mutwe ni ibisanzwe muri iki gihe.

4. Icyiciro cya kane - Kugabanuka k'imitsi nyuma y'itsinda: Ibi bishobora kubaho igihe icyo ari cyo cyose nyuma y'icyiciro cya gatatu. Umwana ashobora gutakaza ubushobozi bwo kugenda n'imbaraga z'imitsi. Ariko, ubuhanga bw'umwana mu itumanaho no mu gutekereza bugomba gukomeza kugaragara muri iki cyiciro.

Ni izihe mpamvu zitera indwara ya Rett Syndrome?

Indwara ya Rett ikunze guterwa n'uburyo butandukanye bwa gene muri gene yitwa `MECP2`. Nkuko nabivuze mbere, iyi gene iyobora ikorwa rya poroteyine yitwa `MECP2`. Iyi poroteyine ifasha kubungabunga isano (synapses) hagati y'uturemangingo tw'imitsi kandi igafasha ubwonko bw'umwana gukora neza.

Ariko, si ko indwara zose za Rett Syndrome zifitanye isano na MECP2 gene. Hari ubwoko bumwe na bumwe bw’uturemangingo (urugero, gusiba) cyangwa ubundi bwoko bw’uturemangingo, nka CDJK5 na FOXG1, nabyo bishobora gutera indwara za Rett Syndrome zidasanzwe. Hari igihe, ibi bimenyetso bishobora guterwa n’uturemangingo tutaramenyekana.

Igikuru ni uko iyi mpinduka mu ngirabuzimafatizo ikunze kubaho mu buryo butunguranye/butunguranye . Ni ukuvuga ko akenshi idaturuka ku babyeyi ku bana. Bityo ntugomba kumva ufite icyaha cyane kuri yo.

Ese abahungu barwara indwara ya Rett Syndrome?

Indwara ya Rett ikunze kwibasira abakobwa gusa. Ibi biterwa nuko impinduka mu miterere y'uturemangingo zibitera ziba kuri chromosome X. Nkuko mubizi, umugore afite chromosomes ebyiri za X (XX).

Kubera ko abahungu bafite chromosome imwe ya X na chromosome imwe ya Y (XY), iyi ndwara ikunze kubaho gake cyane. Iyo umuhungu afite iyi shusho kuri chromosome ye ya X yonyine, ibimenyetso bishobora kuba bikomeye cyane. Ibi bishobora gutera gukuramo inda cyangwa ndetse no gupfa igihe cyo kuvuka.

Abaganga bita iyi ndwara ku bahungu "MECP2-related severe neonatal encephalopathy." Iyi ndwara ishobora kandi kugaragaza ibimenyetso bisa na Rett syndrome, nko kuba ubumuga bwo mu mutwe, gucika intege, no kunanirwa kugenda.

Ingorane za Rett Syndrome

Umwana ufite iyi ndwara ashobora kugira ingorane zikurikira, zimwe muri zo zishobora gushyira ubuzima mu kaga:

• Umusonga wo mu bihaha: Indwara ya pneumonia iterwa n'ibiryo cyangwa ibinyobwa byinjira mu bihaha.
• Igicuri: Gufatwa n'igicuri kenshi.
• Umutima udakora neza: Urugero, indwara nka Long QT syndrome .
• Ibibazo byo mu bihaha cyangwa guhumeka.

Ni gute abaganga basuzuma indwara ya Rett Syndrome?

Umuganga asuzuma indwara ya Rett Syndrome asuzuma umwana akanamukorera ibizamini bikenewe. Nk'umubyeyi, ushobora gukeka ko hari ikibazo iyo umwana wawe adashoboye kugera ku ntego z'iterambere rye, cyane cyane mu mwaka wa mbere. Icyo gihe ni bwo ugomba kujyana umwana wawe kwa muganga w'abana cyangwa kwa muganga w'umuryango wawe.

Muganga wawe azasuzuma umwana wawe arebe ibimenyetso. Hanyuma, azakora ibizamini kugira ngo amenye izindi ndwara zishobora kugira ibimenyetso bisa. Kenshi na kenshi, iyo ndwara ishobora kwemezwa n'ikizamini cy'amaraso gisuzuma impinduka muri MECP2. Iki kizamini cy'uturemangingo ntigisaba kwitegura byihariye cyangwa kujya mu bitaro.

Ubusanzwe indwara ipimwa hagati y’amezi 6 na 18, kuko ari bwo ibimenyetso bitangira.

Kubera ko indwara ya Rett Syndrome ikunze kugaragara, rimwe na rimwe bishobora kugorana kuyisuzuma ako kanya. Bishobora gufata igihe kugira ngo itsinda ry’abaganga rikureho izindi ndwara zose kandi ryemeze ko ari ko bimeze. Bishobora kugorana gutegereza ibisubizo, ariko gusuzuma neza bishobora gufasha itsinda ry’abaganga kuvura ibimenyetso by’umwana wawe.

Indwara ya Rett ivurwa ite?

Uburyo bwo kuvura buterwa n'ibimenyetso byihariye by'umwana. Urugero, imiti ishobora gutangwa ku ndwara zo gupfusha ubusa no kutagira aho ubogamira. Iyo umwana afite ibibazo byo gukoresha imitsi no kuvuga, muganga ashobora kumusaba uburyo bwo kuvura nk'ubu:

• Ubuvuzi bw'akazi: Bufasha mu mirimo ya buri munsi kandi bunoza imikorere y'amaboko.
• Ubuvuzi bw'umubiri: Bufasha mu bintu nko kugenda, kuringaniza no gukomeza imitsi.
• Ubuvuzi bw'imivugire: Bufasha kunoza imvugo n'itumanaho.

Ku bana bafite imyaka 2 kuzamura, umuti witwa Trofinetide wagaragaje umusaruro mwiza mu igeragezwa ry’ubuvuzi . Ni wo muti wa mbere wemejwe n’Ikigo gishinzwe ibiribwa n’imiti muri Amerika (FDA) by’umwihariko ku ndwara ya Rett Syndrome . Si umuti, ariko ufatwa nk'uburyo bwo kuvura indwara. Mugomba kuganira kuri ubu buryo n’itsinda ry’abaganga banyu hanyuma mugafata umwanzuro hamwe.

Byongeye kandi, umwana wawe ashobora kungukirwa na:

• Kwambara icyuma gikingira indwara cyangwa kubagwa indwara ya scoliosis .
• Gusuzumwa kenshi kugira ngo urebe niba umutima udafite ubuzima bwiza.
• Inkunga y'imirire.
• Gahunda z'uburezi bwihariye ku ishuri.

Kugeza ubu nta muti uhari wa Rett Syndrome . Ariko, abaganga b'umwana wawe bashobora kumufasha mu kuvura ibimenyetso mu buzima bwe bwose.

Ni ryari nkwiye kujyana umwana wanjye kwa muganga?

Niba ubonye ko umwana wawe adashoboye kugera ku ntego z'iterambere rye, cyane cyane nyuma y'amezi 6, hita ubonana na muganga.

Niba umwana wawe yarasanzwe arwaye Rett Syndrome , niba afite ingaruka mbi zikomoka ku kuvurwa, cyangwa niba agaragaje ibimenyetso bishya cyangwa niba ibimenyetso bihari birushijeho kwiyongera, menyesha muganga wawe.

Icyizere cy'ubuzima bw'umwana urwaye Rett Syndrome ni ikihe?

Abantu benshi barwaye Rett Syndrome babaho neza kugeza ku myaka 40 no hejuru yayo. Iyo ibimenyetso bidakomeye, umwana wawe ashobora kubaho ubuzima busanzwe. Ariko, iyo habayeho ibibazo by'ubuzima, igihe cyo kubaho gishobora kugabanuka.

Umuntu mwiza wo kubaza umwana wawe ku gihe cyo kubaho ni umuganga we. Ashobora kumva ikibazo cy’umwana wawe kandi akagusobanurira.

Gusuzuma indwara ya Rett Syndrome

Indwara ya Rett Syndrome ni indwara ibaho ubuzima bwose. Ibimenyetso bigira ingaruka ku muntu ku giti cye mu buryo butandukanye. Umwana wawe ashobora kuba ashobora kugenzura ingendo ze, kugenda no kuvugana na we ku giti cye. Ariko, azakenera kwitabwaho amasaha yose mu buzima bwe bwose.

Nanone, umwana wawe azakenera kujya kwa muganga buri gihe kugira ngo amenye ibimenyetso neza kandi akumire ingorane. Mu bihe bimwe na bimwe bya Rett Syndrome, ingorane zishobora gutuma apfa hakiri kare.

Kumenya ko umwana wawe afite indwara idakunze kugaragara yo mu bwonko bishobora kugutera ubwoba. Ushobora kumva uhangayitse kandi ubabaye ko umwana wawe adakura nk'abandi bana. Nubwo umubiri w'umwana wawe uzakenera umwanya n'ubwitonzi byinshi uko agenda akura, ntucike intege. Abaganga bazaba bari kumwe nawe mu ntambwe zose kugira ngo bahe umwana wawe ubuvuzi akeneye.

Abashakashatsi barimo gushaka uburyo bushya bwo kuvura bushobora gufasha abana barwaye Rett Syndrome binyuze mu igeragezwa ry’ubuvuzi . Niba ufite ikibazo ku bijyanye n’uko umwana wawe abona cyangwa uburyo avurwa, baza muganga wawe.

Ibintu by'ingenzi cyane ugomba kwibuka (Ubutumwa bwo kujyana mu rugo)

Ni ibisanzwe kumva uremerewe cyane iyo umenye ko umwana wawe afite Rett Syndrome . Ariko ibuka ibi bintu:

• Nturi wenyine: Hari abandi babyeyi bahura n'ibibazo nk'ibyo. Abaganga, abavuzi, n'amatsinda y'abaterankunga biteguye kugufasha.
• Kumenya umwana wawe hakiri kare ni ingenzi: Niba ubonye ko umwana wawe atinze gukura, shaka ubufasha bwa muganga ako kanya.
• Ubuvuzi bushobora kuvura ibimenyetso: Nubwo nta muti wuzuye uhari, ubuvuzi n'imiti bishobora kuzamura ubuzima bw'umwana.
• Buri mwana aratandukanye: Ibimenyetso n'ingaruka z'indwara biratandukanye bitewe n'umuntu ku giti cye. Abaganga bazagufasha gutegura gahunda yo kwita ku mwana wawe ijyanye neza n'ibyo arwaye.
• Komeza kugira icyizere: Ubumenyi bw'ubuvuzi burimo gutera imbere kandi ubushakashatsi bushya burimo gukorwa, bityo rero ni ngombwa kugumana icyizere.

Igikuru ni uguha umwana wawe urukundo, ubwitonzi, n'ubuvuzi bukwiye.

Indwara ya Rett , indwara z'uturemangingo, indwara z'imitsi, imikurire y'umwana, gene ya MECP2, gutinda k'imikurire