Ese umwana wawe afite iyi ndwara idasanzwe? Menya ibijyanye na Cornelia de Lange Syndrome (CdLS)

Nk'umubyeyi, ushobora guhora utekereza ku buzima n'imikurire y'umwana wawe. Hari igihe tuhura n'indwara zidasanzwe cyane tutajya twumva byinshi kuri zo. Imwe muri izo ndwara zidasanzwe ariko zikomeye ni Cornelia de Lange Syndrome, cyangwa (CdLS) mu magambo ahinnye. Mbere yuko tubitinya, reka tubiganireho mu buryo bworoshye kandi busobanutse neza kandi dusobanukirwe icyo ari cyo.

Mu by'ukuri indwara ya Cornelia de Lan (CdLS) ni iki?

Mu magambo make, (CdLS) ni indwara idakunze kugaragara cyane iboneka mu gihe cyo kuvuka. Ishobora kugira ingaruka ku bice byinshi by'umubiri w'umwana. Mu by'ukuri, iterwa n'impinduka (mutation) mu turemangingo twinshi tujyanye n'imikurire y'umubiri wacu.

Iyi ndwara igaragara mu buryo bubiri bw'ingenzi. Bumwe ni imiterere yoroheje , ubundi ni imiterere ya kera . Akenshi, iyo tuvuga kuri iyi ndwara, tuba tuvuga imiterere ya kera. Ariko, abana bafite imiterere yoroheje nabo bashobora kugaragaza ibimenyetso bimwe, ariko ku rugero ruto.

Abana bafite CdLS bavuka ari bato mu buremere no mu bunini. Umuzenguruko w'umutwe wabo ushobora no kuba muto ugereranije n'uw'umwana usanzwe. Mu buvuzi, ibi byitwa mikorosefali . Uretse izi mpinduka ku mubiri, hashobora kubaho imbogamizi zimwe na zimwe mu bwenge no mu myitwarire. Bamwe mu bana bashobora no kugira ikibazo cyo gutinda kuvuga.

Ni ibihe bimenyetso by'iyi ndwara?

Ibimenyetso bya CdLS bishobora kugaragara mbere cyangwa nyuma yuko umwana avutse. Hari ibintu bimwe na bimwe bikunze kugaragara ku bana bafite iyi ndwara. Bashobora kandi kubona ibibazo mu buryo bw'igogora n'iterambere ry'ubwenge. Reka tubirebe mu mbonerahamwe.

Byongeye kandi, bamwe mu bana bashobora kugira ubumuga bwo kutumva no kutabona neza (urugero, myopia).

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Ni iki kibitera? Ese ni umurage?

CdLS ni indwara ishobora kugira ingaruka ku muntu uwo ari we wese, hatitawe ku bwoko cyangwa igitsina. Akenshi, iterwa n'impinduka mu miterere y'umubiri ibaho mu buryo butunguranye kandi itarigeze igaragara mu muryango mbere.

Kugeza ubu, hamaze kumenyekana jeni zigera kuri 7 zitera indwara ya CdLS. Umwana ufite iyi ndwara ashobora kugira impinduka muri imwe cyangwa nyinshi muri izi jeni. Imiterere n'uburemere bw'indwara biterwa na jeni impinduka za jeni zibamo n'uburyo zibaho. Urugero, abana bafite impinduka muri jeni (NIPBL) bashobora kugira ibimenyetso bikomeye kurushaho.

Igikuru ni uko niba umwana umwe mu muryango afite CdLS, amahirwe yo kubyara undi mwana aba make cyane (hafi 1-2%).

Ariko, mu bihe bidasanzwe, iyo umwe mu babyeyi afite ikibazo cya CdLS, hari amahirwe 50% ko umwana azakira. Ibi byitwa (Autosomal dominant) inheritance.

Ni gute wasuzuma indwara?

Niba ukeka ko umwana wawe afite ibi bimenyetso, intambwe ya mbere ugomba gutera ni ukubonana na muganga w'abana .

Muganga azabanza akore isuzuma ryimbitse ry’umwana hanyuma akubaze amateka y’ubuzima bw’umwana wawe n’umuryango we. Azareba by’umwihariko ibimenyetso n’ibimenyetso bifitanye isano na CdLS.

Hanyuma, ibizamini bya gene bishobora kuba inama yo kwemeza ko umuntu yanduye. Ibi ahanini bireba impinduka muri izi gene:

• NIPBL
• SMC1A
• RAD21
• SMC3
• HDAC8

Mu gihe cyo gutwita, gupima umwana hakoreshejwe ultrasound hagati y'ibyumweru 18-20 rimwe na rimwe bishobora kugaragaza ibitagenda neza mu maso cyangwa mu maguru y'umwana. Ibi bishobora gutanga ibimenyetso bimwe na bimwe kuri CdLS.

Ivurwa ite?

Ni ngombwa kumenya ibi: Nta buryo bwihariye bwo kuvura bushobora gukiza burundu CdLS. Ariko, ibyo ntibivuze ko nta cyo twakora. Intego nyamukuru yo kuvura ni ukuvura ibimenyetso by'umwana no kumufasha kubaho ubuzima bwiza kandi bushimishije uko bishoboka kose.

Umuganga umwe ntabwo ahagije kuri ibi. Itsinda ry'inzobere n'abavuzi baturutse mu nzego zitandukanye barahurira hamwe kugira ngo bakore gahunda nziza yo kuvura umwana. Iri tsinda rishobora kuba ririmo abantu nka:

• Abaganga b'abana
• Inzobere mu ndwara z'umutima - ku ndwara z'umutima
• Abavuzi b'umubiri - kunoza imigendere y'umubiri no gukomeza imitsi
• Abahanga mu by'indwara z'imivugire - ku bibazo by'imivugire n'itumanaho
• Abaganga b'indwara zo mu gifu - ku bibazo byo mu gifu
• Inzobere mu kubaga amaso n'abaganga b'indwara zo mu bwonko

Mu bihe bimwe na bimwe, kubagwa bishobora kuba ngombwa kugira ngo hakorwe ikibazo cy’umutima cyangwa ikibazo cy’umutima. Imiti ishobora no gutangwa ku bibazo nka aside yo mu gifu. Ibi byemezo byose bifatwa n’abaganga basuzuma umwana wawe.

Ni iki wavuga ku byerekeye ahazaza?

Ushobora kumva ibi. Abana benshi bafite CdLS babaho ubuzima busanzwe. Ariko, kubera ko bafite ubumuga bwo mu mutwe runaka, bazakenera ubufasha n'ubuyobozi mu buzima bwabo bwose, ndetse no mu gihe bazaba bakuru. Ibi bivuze kubaha ahantu heza ho kuba no gukora, ariko bikabaha ubwigenge.

Ariko, mu bihe bidasanzwe, ingorane zimwe na zimwe zishobora kugabanya igihe cyo kubaho. By'umwihariko, umusonga ugaruka, inenge z'umutima wavukanye, n'ibibazo bikomeye byo mu igogora biri mu kaga iyo bitasuzumwe neza kandi bigavurwa neza.

Bityo rero, icy'ingenzi ni ugukomeza kugira umwana wawe inama n'ubuvuzi bikwiye. Nubikora, umwana wawe azagira amahirwe menshi yo kubaho ubuzima burambye kandi bushimishije.