Omwana wo alina embeera eno? Ka twogere ku bulwadde bwa Edwards Syndrome oba Trisomy 18.

Ku mmwe abasuubira okufuuka maama, oba abasuubira omuntu omupya okwegatta ku maka gammwe, kino kiyinza okuwulikika ng’ekizibu katono. Kyokka waliwo ebintu ebimu oluusi bye tutayagala kuwulira, naye nga bikulu nnyo okumanya. Leero tugenda kwogera ku mbeera emu ng’ezo. Oyo ye Edwards Syndrome, era emanyiddwa nga Trisomy 18, embeera y’obuzaale ey’amaanyi ennyo.

Obulwadde bwa Edwards Syndrome kye ki?

Mu ngeri ennyangu, obulwadde bwa Edwards Syndrome mbeera ya buzaale ekosa nnyo enkula n’enkula y’omwana . Abalongo abazaalibwa n’embeera eno batera okuzaalibwa nga bazaalibwa nga bazitowa nnyo. Era balina obulemu obw’enjawulo obuwerako mu kuzaalibwa n’engeri ez’enjawulo ez’omubiri. Kya bulijjo okuwulira ennaku n’okutya ng’owulira bino. Naye ka twogere ku nsonga eno, okay?

Ani ayinza okufuna obulwadde bwa Edwards Syndrome (Trisomy 18)?

Mu butuufu, obulwadde bwa Edwards Syndrome (Trisomy 18) busobola okutuuka ku mwana w’omuntu yenna . Kibaawo mu ngeri ya kimpowooze, ekitegeeza nti tekitegeerekeka, nga kkopi ey’enjawulo eya chromosome 18 esangibwa mu butoffaali bw’omwana. Kyokka, kizuuliddwa nti maama gy’akoma okukula, kwe kugamba, singa maama aba ng’alina emyaka egisukka mu 35 mu kiseera ky’olubuto, emikisa gy’okufuna embeera eno gye gikoma okuba egy’amaanyi . Naye jjukira nti omwana omu bw’aba n’embeera eno, emikisa gy’omwana addako okugifuna giba mitono nnyo (nga wansi wa 1%).

Obulwadde bwa Edwards Syndrome (Trisomy 18) butera kwenkana wa?

Embeera eno, Edwards Syndrome (Trisomy 18), ebaawo mu baana nga omu ku buli baana 5,000 ku 6,000 abazaalibwa nga balamu. Wabula mu kiseera ky’olubuto, embeera eno esingako katono, ebaawo mu lubuto nga emu ku buli lubuto 2,500. Eky’ennaku, ebizibu ebiva mu kuzuula kuno bitera okuvaamu omwana ali mu lubuto okubula mu lubuto (okuvaamu olubuto) oba okuzaalibwa nga afudde .

Obulwadde bwa Edwards Syndrome (Trisomy 18) bwazuulibwa ddi?

Embeera eno eyitibwa Edwards syndrome (Trisomy 18) yasooka kuzuulibwa mu 1960 John Hilton Edwards ne ttiimu ye. Baakizudde nga banoonyereza ku mwana eyaakazaalibwa ng’alina obuzibu obw’enjawulo mu kuzaalibwa n’obuzibu mu nkula y’obwongo. Baagamba nti embeera eno yava ku kwongerako kkopi ey’okusatu eya chromosome 18 (y’ensonga lwaki eyitibwa trisomy 18).

Bubonero ki obulaga obulwadde bwa Edwards Syndrome (Trisomy 18)?

Obubonero bw’omwana alina obulwadde bwa Edwards syndrome (Trisomy 18) butera okulabibwa nga tannazaalibwa n’oluvannyuma lw’okuzaalibwa . Obubonero obukulu mulimu okukula okutono ennyo, okuzaalibwa n’obulema obuwera, n’okulwawo ennyo mu nkula oba obulemu mu kuyiga .

Obubonero obulabibwa ng’oli lubuto

Omusawo wo ajja kunoonya ebintu bino mu kiseera ky’okukebera amaloboozi aga ultrasound ng’oli lubuto:

• Entambula z’omwana ali mu lubuto ntono nnyo.
• Omusuwa gwo ogw’omu nnabaana gulina omusuwa gumu gwokka (ebiseera ebisinga guba gumu).
• Ensigo ntono nnyo.
• Okubeerawo kw’obulema obw’enjawulo obw’okuzaalibwa.
• Omuwendo oguyitiridde ogw'amazzi g'omu lubuto ageetoolodde omwana ali mu lubuto guyitibwa ``polyhydramnios''.

Wadde ng’abalongo abamu abalina obulwadde bwa Edwards Syndrome bazaalibwa nga balamu, emirundi egisinga bajja kuvaamu embuto oba okufa mu myezi esatu egisooka nga bali lubuto .

Obubonero obulabibwa oluvannyuma lw’okuzaalibwa

Oluvannyuma lw’okuzaalibwa omwana, omwana alina obulwadde bwa Edwards syndrome (Trisomy 18) ayinza okuba n’engeri zino wammanga ez’omubiri:

• Okukendeera kw’ebinywa (hypotonia) - omwana awulira nga mugonvu nnyo.
• Earlobes ziteekebwa wansi okusinga eza bulijjo.
• Ebitundu by’omubiri eby’omunda (nga omutima n’amawuggwe) biyinza obutatondebwa bulungi oba emirimu gyabyo giyinza okukyuka.
• Ebizibu by’enkulaakulana y’amagezi (ebitera okuba eby’amaanyi ennyo ).
• Engalo ezitumbibwa waggulu ku ndala ne/oba ebigere ebikubiddwa wamu (`(clubfeet)`).
• Omubiri, omutwe, akamwa n’akawanga bitono nnyo.
• Okukaaba okutono ennyo n'okuddamu okutono ennyo ku maloboozi .

Obubonero obw’amaanyi obw’obulwadde bwa Edwards syndrome (Trisomy 18) .

Olw’okuba omubiri gw’omwana alina obulwadde bwa Edwards Syndrome (Trisomy 18) tegukula mu bujjuvu, ebizibu ebiva mu mbeera eno biba bya maanyi nnyo, era ebiseera ebisinga biba mu matigga obulamu bwe . Ebimu ku byo mulimu:

• Obulwadde bw’omutima obuzaalibwa n’ensigo.
• Obutabeera bulungi mu kussa (okulemererwa okussa).
• Ebizibu n’obulema mu kuzaalibwa kw’enkola y’okugaaya emmere (`(Gastrointestinal tract)`) ne bbugwe w’olubuto.
• Obulwadde bw’okusannyalala (`(Hernias)`).
• Obulwadde bwa scoliosis.

Lowooza ku kino: Abalongo nga 90% abalina obulwadde bwa Edwards Syndrome (Trisomy 18) balina obulwadde bw’omutima. Kino kye kisinga okuvaako abalongo bano okufa nga tebanneetuuka, oluvannyuma lw’okulemererwa okussa.

Kiki ekivaako obulwadde bwa Edwards Syndrome (Trisomy 18)?

Mu ngeri ennyangu, obulwadde bwa Edwards (Trisomy 18) buva ku kubeerawo kwa kkopi ssatu eza chromosome 18 mu kifo ky’ebiri eza bulijjo .

Kati, laba, ffenna tulina chromosomes 46 mu mibiri gyaffe, nga twawuddwamu babiri 23. Chromosomes zino zirimu DNA yaffe (ebiragiro omubiri gwaffe bye gwetaaga okukula n’okukola). Seti emu eya chromosomes zino tugifuna okuva ku maama waffe ate endala okuva ku kitaffe.

Obutoffaali bwe butondebwa, busooka kutandika nga butoffaali obuzaala mu bitundu by’okuzaala (ensigo mu basajja, amagi mu bakazi). Obutoffaali buno bweyawukana (mu nkola eyitibwa ``meiosis'') ne bwekoppa okukola babiri babiri. Akatoffaali akavaamu kalina ekitundu kya DNA ng’akatoffaali akasooka, kwe kugamba, 23 ku 46 chromosomes. Buli pair ya chromosomes erina ennamba.

Ensigo zino bwe ziteekeddwa okwawukana mu kiseera ky’okutondebwa kw’amagi n’ensigo, oluusi pair emu eya chromosomes teyawukana bulungi (nga ekintu ekikwatagana), era kkopi zombi ziggweera mu ggi oba ensigo emu. Oluvannyuma, nga zizaala, zeegatta ku kkopi emu okuva eri omuzadde omulala, ne zikola kkopi ssatu zonna awamu . Obutakwatagana bwa chromosome obw’ekika kino bubaawo mu ngeri ya kimpowooze, tebutegeerekeka, era tebuva ku kintu kyonna abazadde kye baakola nga tebannafuna lubuto oba nga bali lubuto .

Kopi eyokusatu ey’ekirungo kya chromosome pair bwe kigattibwako, kiyitibwa trisomy. Trisomy kitegeeza ekintu nga "emibiri esatu." Omuntu alina obulwadde bwa Edwards Syndrome alina kkopi eyokusatu eya chromosome 18 mu butoffaali bwe.

Obulwadde bwa Edwards Syndrome (Trisomy 18) buzuulibwa butya?

Okukebera obulwadde bwa Edwards Syndrome (Trisomy 18) kutera kutandika ng’oli lubuto . Okuzuula obulwadde buno bukakasibwa oba nga omwana tannazaalibwa oba ng’amaze okuzaalibwa. Omusawo wo ajja kutera okukola ‘ultrasound scan’ okunoonya obubonero bw’obulwadde bwa Edwards Syndrome (Trisomy 18) ng’atunuulira entambula y’omwana, obungi bw’amazzi g’omu lubuto n’obunene bw’enseke. Singa obubonero bw’embeera eno ey’obuzaale buzuulibwa, omusawo ajja kukuwa amagezi okwongera okukeberebwa okukakasa nti omuntu azuuliddwa.

Bikebere ki ebikozesebwa okuzuula obulwadde bwa Edwards Syndrome (Trisomy 18)?

Mu kiseera ky’olubuto, singa omwana alaga obubonero bw’obulwadde bwa Edwards Syndrome (Trisomy 18), omusawo ayinza okumuwa amagezi okukeberebwa okw’enjawulo okukakasa nti alina obulwadde buno, gamba nga:

• Amniocentesis : Wakati wa wiiki 15 ne 20 ng’oli lubuto, omusawo ajja kuddira akatundu akatono ak’amazzi g’omu lubuto agekebe okuzuula obulamu bw’omwana wo.
• Chorionic villus sampling (CVS) : Wakati wa wiiki 10 ne 13 ng’oli lubuto, omusawo aggyayo akatono ku butoffaali okuva mu nnabaana n’abukebera okunoonya embeera z’obuzaale.
• Okukebera : Oluvannyuma lwa wiiki 10 ng’oli lubuto, osobola okukeberebwa omusaayi gwo okulaba oba omwana wo alina embeera z’obutonde ez’enjawulo ezitera okubeerawo, gamba nga trisomy 18.

Omwana bw’amala okuzaalibwa, omusawo ajja kukebera omutima gw’omwana ng’akozesa ‘ultrasound scan’, azuule obuzibu bwonna obw’omutima obuyinza okuba nga bwava ku kuzuula kuno, era akole emitendera gy’okubujjanjaba.

Obulwadde bwa Edwards Syndrome (Trisomy 18) bujjanjabwa butya?

Emirundi egisinga embeera eno eba ya maanyi nnyo ne kiba nti abalongo abazaalibwa nga balamu baweebwa obujjanjabi obw’okubudaabudibwa.. Ekyo kitegeeza okuyamba omwana okubeera nga yeeyagaza era nga talina bulumi. Wabula obujjanjabi bw’obulwadde bwa Edwards Syndrome (Trisomy 18) bwa njawulo ku buli mwana, okusinziira ku buzibu bw’okuzuulibwa . Tewali ddagala eriwonya obulwadde bwa Edwards Syndrome (Trisomy 18) .

Obujjanjabi bw’obulwadde bwa Edwards syndrome (Trisomy 18) buyinza okuli:

• Obujjanjabi bw’endwadde z’omutima : Kumpi abalongo bonna abalina obulwadde bwa Edwards syndrome (Trisomy 18) bakosebwa endwadde z’omutima. Wadde ng’abalongo bonna tebasobola kulongoosebwa, abamu basobola.
• Obuwagizi mu kuliisa : Abalongo abalina obulwadde bwa Edwards syndrome (Trisomy 18) bayinza okufuna obuzibu mu kulya mu ngeri eya bulijjo olw’okulwawo okukula. Ziyinza okwetaaga okuliisibwa nga ziyita mu ttanka y’okuliisa okuyamba ku bizibu by’okuliisa nga bakyali bato.
• Obujjanjabi bw’amagumba : Abalongo abalina obulwadde bwa Edwards syndrome (Trisomy 18) bayinza okuba n’obuzibu bw’omugongo, gamba ng’obulwadde bwa scoliosis. Bino bisobola okukosa entambula y’omwana. Obujjanjabi bw’amagumba buyinza okuli okusiba amagumba oba okulongoosa.
• Obuwagizi mu birowoozo n‟embeera z‟abantu : Okuzaala omwana alina obulwadde bwa Edwards Syndrome (Trisomy 18) kyetaagisa okuyambibwa ggwe, amaka go, n‟omwana wo. Ojja kwetaaga obuyambi okusobola okugumira ennaku y’okufiirwa omwana wo naddala ng’ofiiriddwa omwana wo, oba okusobola okugumira obulwadde bw’omwana wo obuzibu.

Nnyinza ntya okukendeeza ku bulabe bw’omwana wange okufuna obulwadde bwa Edwards Syndrome (Trisomy 18)?

Okuva bwe kiri nti mu butuufu obulwadde bwa Edwards (Trisomy 18) buva ku nkyukakyuka mu buzaale, tewali ngeri yonna gye tuyinza kuziyiza mbeera eno . Wabula singa oba olina ebisaanyizo okukeberebwa obuzaale n’okukeberebwa embuto (preimplantation genetic testing) n’okuzaala mu kisenge (IVF), osobola okukendeeza ennyo ku mikisa gy’okuzaala omwana alina obulwadde bwa Edwards syndrome (Trisomy 18). Bw’oba ​​oteekateeka okufuna olubuto, yogerako n’omusawo wo ku kubuulirira ku buzaale omanye akabi akali mu kuzaala omwana alina embeera y’obuzaale.

Kiki ekibaawo singa oba olina omwana alina obulwadde bwa Edwards Syndrome (Trisomy 18)?

Tewali ddagala eriwonya obulwadde bwa Edwards Syndrome (Trisomy 18). Embuto ezisinga zikoma mu kuggyamu embuto oba okuzaala nga bafu . Ku mbuto eziwangaala okutuuka mu kiseera eky’okusatu, abaana nga 40% abalina obulwadde bwa Edwards Syndrome (Trisomy 18) tebawona nga bazaalibwa, ate nga kimu kya kusatu ku abo abawangaala bazaalibwa nga tebanneetuuka.

Omuwendo gw’abaana abazaalibwa n’obulwadde bwa Edwards Syndrome (Trisomy 18) abawangaala guli bwe guti:

• Wakati wa 60% ne 75% bawangaala wiiki esooka.
• Wakati wa 20% ne 40% bawangaala omwezi ogusooka.
• Ebitundu ebisoba mu 10% tebajaguza mazaalibwa gaabwe agasooka.

Abalongo abazaalibwa n’obulwadde bwa Edwards Syndrome (Trisomy 18) beetaaga okulabirira okw’enjawulo amangu ddala nga bamaze okuzaalibwa, nga batuukana n’obubonero bwabwe obw’enjawulo.. Emikisa gy’okuwangaala mitono nnyo naddala ng’omwana alwawo okukula kw’ebitundu by’omubiri oba ng’omutima alina obuzibu mu kuzaalibwa. Ku bitundu 10% abawona amazaalibwa gaabwe agasooka, abaana abamu babeera mu bulamu obumatiza nga bayambibwa nnyo ab’omu maka gaabwe n’abalabirira. Naye emirundi mingi tebayiga kutambula wadde okwogera.

Ddi lwe nnina okulaba omusawo?

Omwana alina obulwadde bwa Edwards syndrome (Trisomy 18) bw’aba mu lubuto, wabaawo akabi k’okuvaamu olubuto oba okufiirwa olubuto. Bw’oba ​​oli lubuto, laba omusawo mu bwangu bw’oba ​​olina obubonero bw’okuvaamu olubuto :

• Okulumwa olubuto.
• Bw’owulira ennyonta n’ofuna omusujja.
• Obulumi bw’omugongo.
• Bw’oba ​​ovaamu omusaayi mungi okusinga ogwa bulijjo (okuvaamu omusaayi omungi).
• Obulumi mu lubuto olwa wansi.

Ddi lwe nnina okugenda mu kisenge ky’abalwadde ab’amangu?

Omwana wo eyazaalibwa n’obulwadde bwa Edwards Syndrome (Trisomy 18) bw’aba alina obubonero buno, mutwale mangu mu kisenge ky’abalwadde ab’amangu, oba kuba 1990 :

• Bw’oba ​​ossa mangu oba mpola nnyo, oba nga tossa n’akatono.
• Singa olususu oba emimwa gifuuka bbululu oba kakobe.
• Singa omutima gukuba mangu nnyo.
• Bwe kiba kizibu okulya.
• Singa omubiri gwonna guzimba.

Bibuuzo ki bye nnina okubuuza omusawo wange?

Mu mbeera eno, oyinza okuba n’ebibuuzo bingi. Buuza omusawo wo ku bintu nga:

• "Bulabe ki bwe nnina okuzaala omwana alina embeera y'obuzaale?"
• "Bujjanjabi ki obuyinza okuweebwa ku bubonero bw'omwana wange?"
• "Nkole ntya okulaba ng'omwana wange abeera mulamu bulungi ng'ali lubuto?"

Okuzuula obulwadde bwa Edwards Syndrome (Trisomy 18) kiyinza okuba ekizibu ennyo. Ebizibu ebijja n‟embeera eno biyinza okukusukkiridde. Omusawo wo ajja kukuyamba n’ab’omu maka go okuyita mu lugendo luno , ka kibeere ku kukola ku kuzuulibwa kw’omwana wo oba okugumira okufiirwa omwana wo. Bw’oba ​​oteekateeka okufuna olubuto, yogerako n’omusawo wo ku kubuulirira ku buzaale omanye ku bulabe bw’okuzaala omwana alina embeera y’obuzaale.

Ebintu ebikulu by'olina okujjukira (Take-Home Message)

Okay, kale, ka nfunze ebimu ku bintu bye twogeddeko bye ndowooza nti bijja kuba bikulu gy’oli:

• Obulwadde bwa Edwards Syndrome oba Trisomy 18, mbeera ya buzaale ya maanyi nnyo .
• Kino kiva ku kkopi ey’enjawulo eya chromosome 18. Kino kya butanwa, so si musango gwa bazadde.
• Kino kiyinza okuzuulibwa okuyita mu sikaani n’okukebera okulala okw’enjawulo (`(Amniocentesis)`, `(CVS)`) okukolebwa ng’oli lubuto.
• Embeera eno tewali ddagala , obujjanjabi bugendereddwamu kufuga bubonero n’okufuula omwana okweyagaza.
• Abalongo bangi tebawangaala , naye abaana abamu bawangaala n’omukwano n’obuwagizi bw’amaka gaabwe.
• Bwoba oli lubuto era...Bw’oba ​​olaga obubonero obulaga nti olubuto luvuddemu, genda mangu omusawo amagezi.
• Bw’oba ​​ozuuliddwa ng’olina embeera eno, si ggwe wekka . Funa obuyambi okuva mu basawo, ab’omu maka, n’ababuulirira.

Nsuubira nti amawulire gano gakuyamba. Kizibu okwogera ku miramwa egy’amaanyi bwe gityo, naye kirungi okubeera nga okimanyi.

` Edwards Syndrome, Trisomy 18, Endwadde z’obuzaale, Chromosomes, Olubuto, Obulamu bw’abaana, Obulema obuzaalibwa