Ese umwana wawe afite ikibazo kidasanzwe cyo gukura k'ubwonko? (Miller-Dieker Syndrome)

Uyu munsi tugiye kuvuga ku ngingo idakunze kugaragara kandi ikomeye ku babyeyi. Iyi ni indwara yitwa Miller-Dieker Syndrome. Iyi ni indwara iterwa n'uturemangingo igira ingaruka ku mikurire y'ubwonko bw'umwana wawe. Ushobora kuba utari warigeze wumva iri zina mbere, ariko kumenya izi ndwara bishobora kuba ingenzi cyane, cyane cyane ku babyeyi bashya.

Indwara ya Miller-Dieker ni iki?

Mu magambo make, indwara ya Miller-Decker ni indwara idakunze kugaragara mu buryo bw’uturemangingo aho igice cyo hanze cy’ubwonko bw’umwana wawe, cyitwa cerebral cortex , kiba cyoroshye. Ubusanzwe, mu bwonko buzima, iki gice gifite imikunjo myinshi, iminkanyari n’imirongo. Ni nk’umunyu. Ariko ku bana bafite iyi ndwara, iyo mikunjo n’imirongo ntibibaho neza.

Umwana ufite iyi ndwara ashobora kugaragaza ibimenyetso bimwe na bimwe by’umubiri akivuka. Bitabaye ibyo, ibibazo bikomeye by’imikurire n’imitsi bitangira kugaragara afite amezi atandatu. Akenshi, ibi biterwa n’impinduka mu buryo butunguranye mu miterere ya chromosomes. Ariko, rimwe na rimwe, iyi ndwara ishobora no guterwa n’impinduka mu ngirabuzimafatizo z’umubyeyi.

Ikibabaje ni uko nta muti uhari wa Miller-Decker syndrome. Ni indwara igabanya ubuzima, aho abana benshi bapfa batarageza ku myaka 2.

Iyi ndwara yasobanuwe bwa mbere mu myaka ya 1960 n'abaganga babiri, James Q. Miller na H. Dieker. Niyo mpamvu yitwa "syndrome ya Miller-Dieker."

Ni ayahe mazina yandi kuri ibi?

Muganga wawe ashobora gukoresha izina ry'ubuvuzi rya lissencephaly kuri Miller-Decker syndrome. Lissencephaly bisobanura "ubwonko bworoshye." Ushobora kandi kumva aya mazina:

• Indwara ya lissencephaly isanzwe
• MDS
• indwara ya Miller-Dieker lissencephaly

Iyi ndwara ikunze kugaragara gute?

Indwara ya Miller-Decker ni indwara idakunze kugaragara cyane . Ifata hafi umwana umwe mu bana 100.000 bavutse. Ibi bivuze ko no muri Sri Lanka, ari gake cyane kubona umwana ufite iyi ndwara.

Impamvu ni iyihe?

Abana barwaye indwara ya Miller-Decker bafite igice cya chromosome 17 kibura.Hari. Ibyo bivuze ko batakaje jeni imwe cyangwa nyinshi. Tekereza nk'aho dufite ibitabo bike by'amabwiriza mu mibiri yacu, ibyo twita chromosomes. Muri izi chromosomes harimo jeni, ari zo kode zigenga byose mu mibiri yacu. Rero, uku gutakaza jeni akenshi bibaho ku buryo butunguranye, ni ukuvuga, nta mpamvu igaragara. Uku gutakaza jeni bishobora kubaho mu ntanga, mu igi, cyangwa mu gihe cy'imikurire y'umwana nyuma yo gusama mu nda.

Mu miryango myinshi, iyo umwana ufite iyi ndwara avutse, nta muntu n'umwe mu muryango wigeze arwara iyi ndwara mbere. Ibyo bivuze ko nta mateka y'umuryango yigeze abaho.

Ariko, rimwe na rimwe, mu muryango umwe muri 10 , umwe mu babyeyi afite gene yahindutse gato kuri chromosome 17, bivuze ko itondetse mu buryo butari bwo. Abaganga babyita translocation iringaniye . Kubera ko gene zose kuri iyi chromosome ziba zihari, bivuze ko nta gene zibura, yaba nyina cyangwa se ntazagaragaza ibimenyetso bya syndrome ya Miller-Decker. Ariko, iyo umubyeyi ufite ubwo bwoko bwa 'translocation' afite umwana, umwana ashobora gutakaza ibice bya gene kubera imiterere idahwitse.

Uku kubura kwa gene bigira ingaruka ku buryo ubwonko bukura umwana akiri mu nda. Nkuko byavuzwe mbere, igice cy'inyuma cy'ubwonko (cortex yo mu bwonko) ntikigira aho kiboha n'aho kiboha, kandi icyo gice kiba cyoroshye.

Ibimenyetso ni ibihe?

Indwara ya Miller-Decker igira ingaruka ku mikurire y'umwana haba ku mubiri no mu mutwe . Ubukana bw'ibimenyetso biterwa n'uburyo ubwonko bw'umwana butarakura.

Umwana ashobora kugira ibimenyetso nk'ibi:

• Guhumeka bigoranye
• Gutinda mu mikurire - Ibi bivuze gutinda mu gukora ibintu bijyanye n'imyaka y'umuntu.
• Kugorwa no kumira (dysphagia)
• Ibibazo byo kugaburira
• Imitsi idafite imbaraga (hypotonia) - Ibi bivuze ko imitsi yo mu mubiri iba ifite intege nke kandi idafite imbaraga.
• Kugorama kw'imitsi cyangwa gucika intege
• Indwara zo mu mutwe - Indwara itera indwara yo kurwara buri gihe.
• Iterambere ry'umubiri rigenda buhoro

Ibiranga umwana bishobora kugaragara mu miterere ye

Abana barwaye indwara ya Miller-Decker bakunze kugira imitwe mito ugereranyije n’isanzwe. Ibi byitwa mikorosefali . Bashobora kandi kugira imiterere imwe n’imwe mu maso yabo:

• Amatwi aba ari hasi ugereranyije n'ibisanzwe kandi ashobora kugira imiterere idasanzwe.
• Agahanga kari imbere.
• Izuru ni rito kandi rishobora kuba ryarazamutse.
• Igice cyo hagati cy'isura gisa nkaho cyarohamye mu gice cyo hagati cy'isura (midface hypoplasia) .
• Umunwa wo hejuru ushobora kuba munini, kandi umusaya wo hasi ushobora kuba muto.

Ni izihe ngorane zishobora guterwa n'iki kibazo?

Hari abana bashobora kugira izindi ngorane igihe cyo kuvuka. Urugero:

• Indwara z'umutima zivukanwa - indwara z'umutima zibaho igihe umuntu avuka.
• Intoki zishobora kuba zigoramye cyangwa zigoramye (clinodactyly) .
• Ibibazo by'impyiko.
• Zimwe mu ngingo zo mu nda zishobora kuba ziherereye hanze y'inda (omphalocele) .

Iyi ndwara ipimwa ite?

Ibipimo bimwe na bimwe bikorerwa mu gihe utwite, nko gupimwa hakoreshejwe ultrasound , bishobora gufasha muganga wawe kureba niba umwana wawe afite imikurire idasanzwe y'ubwonko cyangwa ibindi bimenyetso by'iyi ndwara. Niba bikekwa ibi, muganga wawe ashobora kukugira inama yo kumupima amniocentesis cyangwa chorionic villus sampling (CVS) . Ibi bizamini bishobora kwemeza niba umwana wawe afite impinduka mu ngirabuzimafatizo zijyanye na Miller-Decker syndrome.

Nyuma yuko umwana avutse, wowe cyangwa muganga wawe mushobora kubona bimwe mu bimenyetso byihariye byo mu maso byavuzwe haruguru. Cyangwa, umwana ashobora gutangira kugira ibicurane . Akenshi, abo bana ntibarenga intambwe z'iterambere ry'umwana kuva ku mezi atatu kugeza kuri atanu - nko kwicara no kuzunguruka.

Ni ubuhe buryo bwo kuvura ibi?

Nkuko twabivuze mbere, ikibabaje ni uko nta muti uhari wa Miller-Decker syndrome . Iyi ni indwara igabanya ubuzima. Ubuvuzi bugamije ahanini kugenzura ibimenyetso nk'igicuri no gutuma umwana yumva amerewe neza uko bishoboka kose. Kubera ingorane zo kumira, bamwe mu bana bashobora gukenera kugaburirwa binyuze mu muyoboro (kugaburira mu muyoboro / indyo y'imbere) .

Wakora iki niba umwana wawe afite iyi ndwara?

Kwita no kurera umwana ufite indwara ikomeye nk'iyi imubuza ubuzima ni akazi katoroshye cyane . Ushobora kugira imihangayiko myinshi, stress, ndetse no kwiheba . Kubwibyo, ni ingenzi cyane kwita ku buzima bwawe bw'umubiri n'ubwo mu gihe wita ku mwana wawe.

Ushobora kubona ubufasha mu bintu nk'ibi:

• Shaka serivisi z'ubufasha umwana wawe akeneye, nko serivisi zo gusana abana, ubuvuzi bwo mu rugo, n'ibikoresho by'ubufasha.
• Jya mu itsinda rishinzwe gufashanya n'ababyeyi bafite abana nk'aba. Bizagufasha kumva utari wenyine kandi ushobora kwigira ku byo abandi banyuzemo.
• Menya indwara y'umwana wawe n'ibimenyetso bimwe na bimwe bimuranga.
• Fata umwanya wawe . Fata ikiruhuko, kora ikintu ukunda.
• Shaka uburyo bwiza bwo kugabanya stress. Bishobora kuba nko gutembera n'inshuti cyangwa gutangira ikindi kintu gishya.
• Vugana n'inzobere mu by'ubuzima bwo mu mutwe . Bizaguha ihumure ryinshi.
• Niba bibaye ngombwa, koresha imiti nk'imiti igabanya ubukana nk'uko muganga yabigusabye.

Ese indwara ya Miller-Decker ishobora kwirindwa?

Mu by’ukuri, ibyo bivuze ko nta buryo na bumwe bwo kwirinda indwara ya Miller-Decker, ibaho mu buryo butunguranye nta mpamvu igaragara.

Ariko, niba ufite umwana ufite iyi ndwara, ikizamini cya genetiki gishobora gukorwa kugira ngo hamenyekane niba wowe cyangwa umukunzi wawe mufite "translocation ingana" yavuzwe haruguru kuri chromosome 17. Iyo umubyeyi ufite "translocation" nk'iyo afite undi mwana, akenshi haba hari amahirwe angana na rimwe muri atatu ko uwo mwana na we yazarwara indwara ya Miller-Decker.

Kubwibyo, ni ngombwa cyane ko wowe n'umukunzi wawe muhura n'umujyanama mu by'uturemangingo kugira ngo muganire kuri iyi ngaruka n'amahitamo yanyu.

Ese ahazaza h'umwana ufite iyi ndwara ni he?

Ibi birababaje cyane. Imyaka yo kubaho y'abana barwaye indwara ya Miller-Decker akenshi iba mike cyane . Abana benshi bagira igicuri gikomeye gishobora gushyira ubuzima bwabo mu kaga. Cyangwa, kubera ko imitsi yo mu muhogo iba idakomeye, indwara nka 'aspiration pneumonia' zishobora kubaho, aho ibiryo n'ibinyobwa bijya mu bihaha. Ibi ni bibi cyane.

Abana benshi bapfa bafite imyaka 2. Hari abana bashobora kubaho imyaka 10. Ariko, kubaho kugeza mu gihe cy'ubugimbi ni gake cyane.

Ni ryari ukwiye kujya kwa muganga?

Niba umwana wawe afite kimwe muri ibi bimenyetso, hita ubonana na muganga:

• Gutinda mu mikurire - niba udakora ibintu bijyanye n'imyaka yawe.
• Niba ufite ikibazo cyo guhumeka, kurya, cyangwa kumira.
• Niba ukunze kugira ibisebe .
• Niba iterambere ry'umubiri risa n'aho rigenda buhoro.
• Niba ubonye imiterere idasanzwe yo mu maso cyangwa imiterere y'umubiri .

Ni ibihe bibazo by'ingenzi ugomba kubaza muganga?

Umaze kumenya ko umwana wawe afite indwara ya Miller-Deeker, ushobora kubaza muganga ibibazo nk'ibi:

• Ni iki gituma umwana wanjye arwara indwara ya Miller-Decker?
• Ni ubuhe buryo bwo kuvura bushobora gufasha umwana wanjye?
• Nakora iki kugira ngo mfashe umwana wanjye ari mu rugo?
• Ese njye n'umukunzi wanjye twakwipimisha imiterere y'uturemangingo?
• Ni izihe ngorane zindi ngomba guhangayikishwa nazo?

Amaherezo, ibuka

Iyo umwana wawe afite indwara ikomeye nk'iyi ishobora kumuviramo ingaruka mbi, ni ngombwa gushaka ubufasha ku bahanga n'abashinzwe ubuzima bafite ubumenyi kuri iyo ndwara. Muganga wawe ashobora kugufasha gucunga ibimenyetso by'umwana wawe no kumufasha kumva amerewe neza uko bishoboka kose. Bashobora kandi kuguhuza n'ibikoresho n'ubufasha bishobora gufasha umuryango wawe muri iki gihe kigoye.

Uko bishoboka kose, ishimire igihe umuryango wawe winjiza hamwe. Mukundane kandi mushyigikirane. Gerageza gukusanya ibihe byiza utazigera wibagirwa. Ntugerageze kunyura muri uru rugendo wenyine, hari abantu benshi bashobora kugufasha.

Indwara ya Miller -Dieker, lissencephaly, iterambere ry'ubwonko, indwara z'uturemangingo, chromosome 17, ubuzima bw'abana, gutinda mu mikurire