Ese umwana wawe afite ibi bimenyetso? Reka twige kuri Cohen Syndrome.

Ese wigeze wibaza impamvu abana bamwe bitwara kandi bagakura mu buryo butandukanye n’ubw’abandi? Hari igihe, ndetse n’ibintu bito bishobora kugira inkuru ikomeye inyuma yabyo. Uyu munsi, tugiye kuvuga ku ndwara y’uturemangingo ifata ibintu byinshi mu bana, nko kugaragara kwabo, imikurire yabo, ndetse n’imbaraga z’imitsi. Iyi ndwara yitwa Cohen Syndrome.

Indwara ya Cohen Syndrome ni iki?

Muri make, Cohen Syndrome ni indwara iterwa n’impinduka mu miterere y’uturemangingo. Ishobora kugira ingaruka ku bice byinshi by’umubiri, harimo kureba, imikurire y’umwana, imitsi, n’ubushobozi bwo gutekereza. Ishobora kandi gutera ibimenyetso by’umubiri nk’umutwe muto, umusatsi mwinshi, n’uburebure bugufi.

Abana bavutse bafite iyi ndwara bagira ibibazo byo gukura nabi . Ibi bivuze ko ibintu nko kwizunguruka, kugenda no kuvuga bishobora gutinda kurusha uko byari byitezwe. Urugero, mu gihe umwana w'inshuti yawe ashobora kuba arimo kwizunguruka afite amezi atandatu, umwana ufite iyi ndwara ashobora kumara igihe kirekire. Ariko, nubwo hari ibi bihe byo gutinda, aba bana akenshi baba beza cyane, bishimye kandi basabana n'abandi. Barangwa n'urukundo rwinshi iyo bamwenyuye kandi bavuga.

Ibi biterwa n'impinduka mu miterere y'uturemangingo, kandi nta muti uhari kuri ubu. Nubwo abantu benshi barwaye indwara ya Cohen Syndrome babaho ubuzima busanzwe, bazakenera ubufasha mu buzima bwabo bwose.

Iyi ndwara yitwa Cohen Syndrome ikunze kugaragara gute?

Mu by’ukuri, indwara ya Cohen Syndrome si indwara ikunze kugaragara cyane. Hari ubushakashatsi bwerekana ko abantu bari munsi y’1.000 ku isi yose basanzwe bafite iyi ndwara. Ariko, kubera ko iyi ndwara akenshi idakunze kugaragara neza, umubare nyawo ushobora kuba uri hejuru cyane. Kubwibyo, ni ngombwa kumenya izi ndwara.

Ni ibihe bimenyetso by'indwara ya Cohen Syndrome?

Hariho ibimenyetso byinshi bya Cohen Syndrome. Ni ngombwa kwibuka ko atari buri wese uzagira ibimenyetso byose. Reka turebe ibimenyetso by'ingenzi bishobora kugaragara:

• Ibibazo by'iterambere ry'ubwenge: Ibi bivuze ko bifata igihe kirekire kugira ngo wige kandi usobanukirwe ibintu. Ushobora gukenera ubufasha bw'inyongera mu kazi k'ishuri.
• Ubunebwe bw'imitsi (hypotonia): Kumva ufite intege nke cyangwa urembye mu mubiri. Ibi bishobora kugaragara no mu gihe uterura umwana.
• Guhindagurika kw'ingingo: Guhindagurika cyane kw'ingingo. Abana bamwe bashobora kunama amaguru yabo mu buryo budasanzwe.
• Myopia (kureba hafi) yiyongera uko umuntu asaza: Kubona ibintu hafi ariko ntubone ibintu kure neza. Ibi birushaho kwiyongera uko umuntu asaza, bityo ni ngombwa ko umuntu apimwa amaso buri gihe.
• Kurwara amaso mu maso cyangwa mu maso: Kwangirika kw'igice cy'ijisho gifasha mu kureba. Ibi bishobora gutuma umuntu atabasha kubona neza.

Ibimenyetso abana bavutse bashobora kubona

Ushobora kubona ibintu nk'ibi mu bana bavutse:

• Ingorane mu konsa: Ingorane mu konsa umwana.
• Kurira gukomeye cyangwa gukomeye: Kurira k'umwana bishobora kuba bitandukanye, gukomeye kurusha uko bisanzwe.
• Ingorane zo guhumeka: Umwana afite ikibazo cyo guhumeka.
• Kugorana kwiyongera ibiro: Ibiro by'umwana ntibiri kwiyongera neza.

Icy'ingenzi cyane: Niba umwana wawe afite ikibazo cyo guhumeka cyangwa asa n'uhinduka ubururu, hamagara 119 cyangwa nimero y'ubutabazi yo mu gace utuyemo vuba umujyane kwa muganga.

Gutinda mu mikurire n'imyitwarire

Abana bashobora gukenera igihe kinini cyo kwiga no gukura kurusha abandi bo mu kigero cyabo. Uku gutinda mu mikurire bishobora gutangira bakiri bato. Urugero, ibintu nko kwizunguruka no kwicara wenyine bishobora gutinda. Umwana wawe ashobora gutangira kugenda nyuma y'imyaka 2, ariko mbere y'imyaka 5. Bishobora kandi gufata igihe kugira ngo atange kuvuga.

Nubwo iyi ndwara ishobora guteza ibibazo bimwe na bimwe mu myitwarire , nk'uko byavuzwe haruguru, abana benshi bakunda gusabana cyane kandi bishimye. Bakunda gusabana no gukina n'abandi.

Ariko ibuka ko ibi bimenyetso bitagaragara ku bana bose mu buryo bumwe. Hari abana bashobora kutagira ibi bimenyetso byose.

Ni ibihe bimenyetso by'umubiri bya Cohen Syndrome?

Hariho imiterere myinshi isanzwe mu maso no ku mubiri igaragara ku bana barwaye indwara ya Cohen. Imwe muri yo igaragara igihe bavuka, indi ikagaragara uko bakura.

Ibiranga isura:

• Microcephaly: Umutwe muto ugereranije n'ibisanzwe.
• Umusatsi mwinshi, amaso manini, n'amaso maremare.
• Amaso amanuka (imiyoboro ya palpebral isa n'umuraba): Ijisho rifite imiterere isa n'umuraba.
• Umutwe w'izuru ryimbitse.
• Intera ngufi hagati y'izuru n'umunwa wo hejuru (philtrum).
• Amenyo yo hejuru agaragara.
• Amatwi manini.

Bimwe muri ibi biranga umwana bigenda bigaragara uko agenda akura, akenshi nyuma y'imyaka 5.

Izindi miterere y'umubiri:

Byongeye kandi, ibindi bimenyetso bishobora kugaragara mu bwana ndetse no mu gihe kizaza. Ibi birimo:

• Kugaragara kw'ibinure mu gice cy'umubiri no kugabanya amaguru: Ibi bivuze ko igice cyo hagati cy'umubiri (gikikije igifu) kiba kinini kandi amaguru akagabanuka.
• Mugufi.
• Gutinda mu bugimbi.
• Amasaro adatembera mu bahungu.
• Uguhindagurika k'umugongo (scoliosis cyangwa kyphosis).

Ni izihe ndwara zindi zishobora kubaho umuntu ufite indwara ya Cohen Syndrome?

Abana basanzwe barwaye indwara ya Cohen Syndrome baba bafite ibyago byinshi byo kurwara izindi ndwara zigira ingaruka ku budahangarwa bw'umubiri wabo. Ni ngombwa kubimenya no.

• Neutropenia: Uku ni ukugabanuka k'ubwoko bw'uturemangingo tw'amaraso (twitwa neutrophils) mu mubiri. Izi neutrophils zirwanya mikorobe n'indwara zinjira mu mibiri yacu. Rero iyo izi nke, dushobora kurwara byoroshye. Dushobora kurwara umuriro kenshi, ibicurane, n'izindi ndwara.
• Indwara z’ubwiyongere bw’umubiri: Ibi bivuze ko ubudahangarwa bw’umubiri bwibasira uturemangingo tuzima mu mubiri. Tekereza nk’ingabo zacu zitwibasira. Ingero zirimo diyabete , indwara ya tiroyide, n’indwara ya celiac (allergie kuri poroteyine gluten).

Ni iki gitera indwara ya Cohen Syndrome?

Syndrome ya Cohen iterwa n'impinduka mu ngirabuzimafatizo ya VPS13B (izwi kandi nka ngirabuzimafatizo ya COH1) . Muri make, ni inenge mu ngirabuzimafatizo mu mubiri wacu.

Tekereza, mu mibiri yacu dufite ikintu cyitwa Golgi apparatus . Ni nk'uruganda rukora poroteyine. Iyo poroteyine nshya ikozwe, umubiri wacu wohereza ibikoresho fatizo muri Golgi apparatus, aho ihinduka bimwe na bimwe igashyirwa hamwe n'izindi poroteyine zisa nazo kugira ngo zitondekane. Nyuma y'uko izi mpinduka zikozwe, Golgi apparatus ishyira poroteyine hamwe n'amabwiriza yazo hanyuma ikayohereza aho igenewe.

Gene ya VPS13B ikora by’umwihariko glycosylation , ari na yo nzira ikoreshwa mu guhuza isukari na poroteyine. Ifasha kandi gutunganya no kohereza ibimenyetso ku miyoboro y’ubwonko n’uturemangingo tw’ibinure (adipocytes) .

Rero, iyo habayeho impinduka muri gene ya VPS13B, ni nk'aho urwo ruganda rudashobora gukora neza. Ibyo bivuze ko rudashobora gukora ibicuruzwa byiza. Ibyo nibyo bitera ibimenyetso bya Cohen Syndrome.

Ese indwara ya Cohen iravukana?

Yego, indwara ya Cohen ni indwara umuntu avukana. Iyi ndwara yandurira mu buryo bw’umubiri.Niba ibi bisa nkaho bigoye kubyumva, tekereza kuri ubu buryo: Umwana arwara iyo azunguye kopi ebyiri za gene ifite inenge iyitera (imwe iva kuri nyina n'indi iva kuri se). Ababyeyi b'umubiri bashobora kuba ari bo batwara gene. Ibyo bivuze ko badafite iyo ndwara kuko bafite kopi imwe gusa ya gene ifite inenge. Indi kopi ni nzima. Ariko, iyo abantu babiri banduye bahuye, hari amahirwe ko umwana wabo yagira iyo ndwara.

Ni nde uri mu kaga gakomeye kuri ibi?

Indwara ya Cohen ishobora kwibasira umuntu uwo ari we wese. Ariko, iyi ndwara ikunze kugaragara cyane mu matsinda amwe n'amwe y'abantu. Urugero:

• Abantu b'Aba-Amish
• Abanya-Finilande
• Abantu bakomoka mu Bugereki (Mediterane)
• Abantu bakomoka muri Irilande

Nubwo ibi atari umwihariko kuri twe muri Sri Lanka, ni byiza kubimenya.

Ni izihe ngorane zishobora guterwa na Cohen Syndrome?

Indwara ya Cohen ishobora gutera ingorane zikurikira:

• Indwara zikunze kugaragara, nko kwandura indwara zo mu matwi yo hagati (otitis media) (ziterwa n'ubudahangarwa buke buterwa no kurwara indwara ya neutropenia)
• Ingorane z'ubuzima bw'amenyo n'akanwa nka gingivitis n'ibisebe bya kanseri .
• Ibibazo by'amaso byiyongera.
• Ubumuga bwo mu mutwe ku nzego zitandukanye.

Indwara ya Cohen Syndrome ipimwa ite?

Umuganga ashobora gusuzuma indwara ya Cohen Syndrome nyuma yo gupimwa umubiri n'ibindi bipimo. Nk'umubyeyi, niba wumva umwana wawe adashoboye kugera ku ntambwe z'iterambere zijyanye n'imyaka ye (urugero: kutamwenyura, kutitabira amajwi, kutizunguruka, kutavuga nk'abandi bana), reba muganga w'umwana wawe. Iki gishobora kuba ikimenyetso cy'ibanze cy'iyi ndwara.

Gusuzuma indwara ya Cohen Syndrome rimwe na rimwe bishobora kugorana kuko ibimenyetso byayo bishobora gusa n'ibindi bibazo byinshi. Ibizamini bishobora gufasha muganga wawe kumenya neza ko izi ndwara zitari zo. Ikizamini cy'amaraso gikozwe mu maraso gishobora kugaragaza ihinduka ry'uturemangingo ritera ibi bimenyetso.

Indwara ya Cohen Syndrome ivurwa ite?

Kugeza ubu nta muti uhari wa Cohen Syndrome. Ubuvuzi bugamije ahanini kuvura ibimenyetso no gufasha umwana kubaho neza uko bishoboka kose. Ibi bishobora kuba birimo:

• Gahunda z'uburezi zigamije gufasha umwana hakiri kare: Gahunda zihariye zifasha mu mikurire no kwiga by'umwana.
• Ubuvuzi bw'akazi: Ubuvuzi bugufasha gukora imirimo ya buri munsi (nk'ukurya, kwambara no gukina) ku giti cyawe.
• Ubuvuzi bw'umubiri: Ubuvuzi bufasha kunoza imigendere y'umubiri no gukomera kw'imitsi. Ibi ni ingenzi cyane kuri hypotonia.
• Ubuvuzi bwo kuvuga: Ubuvuzi bufasha guteza imbere ubushobozi bwo kuvuga no kuvugana n'abandi.
• Kwambara indorerwamo cyangwa gukora imyitozo yo kutabona neza.

Ubusanzwe indwara ya neutropenia ijyana na Cohen Syndrome ivurwa hakoreshejwe umuti witwa Granulocyte-Colony Stimulating Factor (G-CSF) uterwa munsi y’umubiri. Ibi bitera umwongo gukora uturemangingo tw’amaraso twinshi, bigabanya ibyago byo kwandura.

Niba umwana wawe akunze kwandura indwara, muganga azaguha imiti igabanya ubukana bw'indwara kugira ngo umuvure uko bikenewe.

Imyaka yo kubaho k'umuntu urwaye indwara ya Cohen Syndrome ni iyihe?

Kubera ko indwara ya Cohen Syndrome atari indwara ikunze kugaragara cyane, nta bimenyetso bihagije bigaragaza neza uburyo igira ingaruka ku buzima bw'umuntu. Nubwo abantu benshi barwaye iyi ndwara babaho igihe gisanzwe, si bose babikora. Ibi bishobora kugira ingaruka ku buzima bwabo, cyane cyane niba umwana wawe afite izindi ndwara zigira ingaruka ku budahangarwa bw'umubiri (nk'indwara zikunze kugaragara kandi zikomeye).

Ni iki gipimo cy’indwara ya Cohen Syndrome?

Indwara ya Cohen Syndrome ishobora kugira ingaruka ku bice byinshi by'ubuzima bw'umwana wawe. Ariko, iyo avuwe neza kandi akamwitaho mu rukundo, ashobora kugira icyerekezo cyiza.

Muganga azagusaba uburyo butandukanye bwo kuvura bujyanye n'ibimenyetso bye. Ubu buryo bushobora gutandukana bitewe n'umuntu ku giti cye. Ubusanzwe ubuvuzi bukubiyemo uburyo bwo kuvura no kwigisha. Ubu buryo bufasha umwana kugera ku ntambwe z'iterambere zijyanye n'imyaka ye.

Umwana wawe ashobora kugira ibibazo byo kutabona no kugira ibibazo by'amenyo. Ibi bikunze gutangira iyo ageze mu kigero cyo kujya mu ishuri. Rero, komeza urebe inzobere mu kwita ku maso , amenyo y'amenyo, n'abandi baganga bashinzwe kwita ku buzima kugira ngo bakurikirane ibimenyetso bye uko agenda akura.

Ese indwara ya Cohen Syndrome ishobora kwirindwa?

Kubera ko indwara ya Cohen Syndrome ari indwara iterwa n’uturemangingo, nta buryo bwo kuyirinda . Niba uteganya gushinga umuryango, kandi hari umuntu wo mu muryango wawe ufite iyi ndwara, cyangwa niba ushaka kumenya ibyago byo kubyara umwana ufite indwara nk’iya Cohen Syndrome, ni ngombwa cyane kuvugana n’umuganga utwite cyangwa umuganga w’ubuzima ku bijyanye no gupima/kugira inama ku ndwara .

Ni ryari ngomba kujya kwa muganga?

Nk'umurezi w'umwana wawe, uramuzi neza. Niba ubona ikintu kidasanzwe cyangwa kidasanzwe mu mikurire ye cyangwa mu mikurire ye, hamagara muganga we. Ntutinye kubivugaho, kabone niyo byaba ari ibintu bito gusa.

Witondere cyane intambwe umwana wawe akuramo . Ni ibisanzwe ko abana barwaye indwara ya Cohen Syndrome bafata igihe kirekire kugira ngo bagere ku ntambwe nko kwisubiraho no kuvuga amagambo yabo ya mbere. Muganga wawe ashobora kugufasha kumenya uko wafasha umwana wawe muri iki gihe.

Ingorane! Niba umwana wawe afite ikibazo cyo guhumeka, cyangwa afite uruhu rwera cyangwa ubururu n'inzara, hamagara inzego z'ubutabazi ako kanya.

Ni ibihe bibazo ngomba kubaza muganga wanjye?

Mu gihe uganira na muganga ku mwana wawe, byaba byiza ubajije ibibazo nk'ibi:

• Ni iki nakora mu gihe umwana wanjye abuze intambwe z'iterambere mu mikurire ye?
• Ni ibihe bimenyetso ngomba kwitondera?
• Ni ubuhe buryo bwo kuvura usaba?
• Ese hari ingaruka mbi zikomoka ku buvuzi?
• Nigute nafasha umwana wanjye gutsinda mu ishuri?
• Ese hari andi matsinda y'ababyeyi cyangwa imiryango dushobora kuvugana nayo kugira ngo tuyifashe?

Ese indwara ya Cohen yitwa Autism?

Oya. Indwara ya Autism Spectrum Disorder (ASD) ni indwara iterwa n'iterambere ry'imitsi . Cohen Syndrome ni indwara iterwa n'uturemangingo. Ibyo byombi si bimwe. Ariko, abana benshi basanzwe barwaye Cohen Syndrome bashobora kugira ibimenyetso bisa na autism (ASD) (urugero: ingorane zo mu muryango, imyitwarire isubiramo), cyangwa bashobora kugira ASD hamwe na Cohen Syndrome. Muganga ashobora kubisobanura neza.

Amaherezo, icyo ugomba kwibuka (Ubutumwa bwo kujyana mu rugo)

Ni ibisanzwe kumva ufite stress kandi ubabaye iyo umwana wawe adageze ku ntego ze zijyanye n'imyaka ye. Bishobora kandi gutera stress kurushaho mu gihe abaganga bakora ibizamini kugira ngo bamenye ibiri kuba. Nyamara, nubwo indwara ya Cohen Syndrome ari indwara idakunze kugaragara, abaganga barimo kwiga byinshi kuri iyo ndwara n'uburyo bwo kuyifata buri munsi.

Gahunda zo gufasha umwana wawe hakiri kare zishobora gufasha kugera ku ntego ze z'iterambere, nubwo byatwara igihe kirekire ugereranyije n'abandi bo mu kigero cye. Kubera ko Cohen Syndrome ishobora no kugira ingaruka ku bushobozi bw'ubwenge bw'umwana, azakenera urukundo rwawe, inkunga yawe, n'ubufasha bwawe mu buzima bwe bwose.

Ntukigere wumva uri wenyine.Abaganga, abaganga, n'andi matsinda y'ubufasha barahari kugira ngo bagufashe wowe n'umwana wawe. Baza ibibazo byawe, usangize amarangamutima yawe. Tukwifurije imbaraga zo guha umwana wawe ibyiza byose!

Indwara za Cohen , Indwara z'uturemangingo, Gutinda mu mikurire, Ubuzima bw'Umwana, Neutropenia, Microcephaly, Hypotonia