Ingabe ingane yakho inalesi simo esingavamile sofuzo? Ake sixoxe nge-Trisomy 13 (Trisomy 13 - Patau Syndrome)!

Uma ulindele umntwana, noma unengane encane, kuyinto evamile ukuzizwa ukhathazekile noma unelukuluku ngempilo yakhe, akunjalo? Ngezinye izikhathi sifunda ngezifo ngamagama esingakaze sizwe ngawo. Isibonelo, isimo esingavamile sofuzo abantu abaningi abangasijwayele, kodwa esingathinta ingane, sibizwa ngokuthi i-Trisomy 13. Abanye abantu basibiza nangokuthi i-Patau Syndrome. Ngisho noma lokhu kungase kuzwakale kusabeka kancane, kubalulekile ukuba nolwazi oluphelele ngakho. Ngakho-ke, ake sixoxe ngakho kalula, ngendlela ongayiqonda?

Uyazi ukuthi iyini i-Trisomy 13?

Kalula nje, iseli ngalinye emzimbeni wethu liqukethe amaphakheji amancane abizwa ngokuthi ama-chromosome agcina ulwazi lwezakhi zofuzo. Lokhu kufana nezincwadi zemiyalelo ezidingwa yimizimba yethu ukuze ikhule futhi isebenze. Zicabange njengezahluko encwadini. Ngokuvamile, sinezimbili, noma ezimbili, ze-chromosome ngayinye. Sithola eyodwa kumama wethu kanye nenye kubaba wethu.

Kodwa-ke, ingane ene-Trisomy 13 inamakhophi amathathu e-chromosome ye-13 esikhundleni samakhophi amabili. Yingakho ibizwa ngokuthi 'i-trisomy' ('tri' isho ezintathu). Le chromosome eyengeziwe ithinta ubuso bomntwana, ubuchopho, inhliziyo, kanye nokukhula komzimba ngezindlela ezahlukene. Lokhu kungaba yisimo esisongela impilo yengane. Ngakho-ke, ngezinye izikhathi kunengozi yokuphuphuma kwesisu ngesikhathi sokukhulelwa, noma, ngokudabukisayo, ingozi yokulahlekelwa ingane phakathi nonyaka wokuqala wokuphila iphezulu.

Ubani othinteka kakhulu yilesi simo?

Lokhu kuyinto engenzeka kunoma ubani. Ngoba kubangelwa iphutha lokukopisha elenzeka ngengozi lapho amangqamuzana ehlukana ngesikhathi sokukhula kombungu. Okusho ukuthi, akubangelwa yiphutha likamama noma likababa. Kodwa-ke, ezinye izifundo zithole ukuthi omama abangaphezu kweminyaka engu-35 basengozini enkulu yokuthuthukisa lesi simo sofuzo lapho benomntwana . Kodwa-ke, lokhu akusho ukuthi akwenzeki komama abasebasha, futhi akwenzeki nakubo bonke asebekhulile.

Ukuze uthole ukuthi usengozini yalolu hlobo lwesimo sofuzo, kuwumqondo omuhle ukukhuluma nodokotela wakho mayelana nokuhlolwa kofuzo , ikakhulukazi uma uhlela ukuqala umndeni noma ukhulelwe.

Ivame kangakanani i-Trisomy 13 (i-Patau Syndrome)?

Lesi yisimo esingavamile kakhulu. Sithinta cishe umntwana oyedwa kwabayi-10,000 kuya kwabayi-20,000 abazalwa bephila. Izinga lokufa liphezulu ezinsukwini zokuqala ezimbalwa zokuphila. Ngenxa yokuthi izimo ezisongela ukuphila ezifana nezinkinga zenhliziyo kanye nokukhubazeka komgogodla kungavela ngesikhathi sokukhulelwa, ukukhulelwa okuningi kugcina ngokuphuphuma kwesisu. Kuphela u-5% kuya ku-10% wezingane ezizalwa zine-Trisomy 13 ezisinda ngaphezu konyaka wazo wokuqala. Kuyaqondakala ukuzizwa udabuke uma uzwa lezi zibalo, kodwa kubalulekile ukuqaphela lesi simo.

I-Trisomy 13 (i-Patau Syndrome) iwuthinta kanjani umzimba wengane yami?

I-Trisomy 13 ingaba nomthelela omkhulu ekukhuleni komntwana wakho. Le miphumela ingahluka kusuka komntwana kuya komntwana.

Ngokwesibonelo,

• I-Cleft palate noma i-cleft lip
• Ukuba neminwe eyengeziwe ezandleni nasezinyaweni (ngokuvamile)
• Ubuthakathaka bemisipha (hypotonia) , okusho ukuthi umzimba womntwana uzizwa ungaphili.
• Ikhanda elincane (i-microcephaly)

Kungabonakala ukungajwayelekile ekukhuleni komzimba.

Kuphinde kuthinte ukukhula kwezitho zangaphakathi zomntwana. Lokhu kungabangela izinkinga ngezitho ezibalulekile, ikakhulukazi inhliziyo, ubuchopho kanye nezinso. Lokhu kungaholela ezimpawini ezisongela impilo. Ngemva kokuzalwa komntwana, cishe umntwana uzogcinwa eYunithi Yokunakekelwa Okujulile Kwezingane Ezisanda Kuzalwa (i-NICU) . Lapho, odokotela nabahlengikazi bazonikeza umntwana ukwelashwa okudingekayo kanye nokunakekelwa ngokusekelwe ezimpawini zomzimba zomntwana ukuze amnike ithuba elihle lokusinda.

Ziyini izimpawu ze-Trisomy 13 (i-Patau Syndrome)?

Lezi zimpawu zingahluka kumuntu nomuntu, futhi ubukhali bazo bungahluka. Ezinye izingane zingase zibe nezimpawu eziningi, kanti ezinye zingase zibe nezimbalwa.

Izici eziyinhloko ezibonakalayo yilezi:

• Ukukhubazeka kwenhliziyo okubangelwa ukuzalwa. Lesi yisimo esivame kakhulu.
• Ukuphazamiseka kokukhula komzimba, ikakhulukazi ukukhubazeka komgogodla.
• Izinkinga ezinkulu ngokusebenza kwengqondo. Lokhu kusho ukuthi kunomthelela omkhulu ekukhuleni kwengqondo kwengane.
• Izitho zangaphakathi ezingakakhuli kahle.

Ziyini izimpawu zomzimba?

Lezi ezinye zezici zangaphandle:

• Umlomo oqhekekile noma ulwanga oluqhekekile.
• Ubunzima bokukhula kwesisindo, okusho ukuthi umntwana akatholi ubisi olwanele futhi akabambeki kahle.
• Ukuba neminwe noma izinzwane ezengeziwe (ezine-polydactyly).
• Izindlebe eziphansi.
• Ukukhubazeka ekukhuleni kwezingalo nemilenze.
• Ubuthakathaka bemisipha (hypotonia).
• Ikhanda elincane (i-microcephaly) kanye nomhlathi omncane (i-micrognathia).
• Amehlo amancane kakhulu, asondelene, noma angakakhuli kahle.

Yiziphi izimpawu ezithinta izitho zangaphakathi?

Lesi simo sithinta nezitho zomzimba ezingaphakathi:

• Izinkinga zesisu (GI) ezibangela ubunzima bokudla.
• Ukwehluleka kwenhliziyo.
• Izinkinga zokuzwa, okungukuthi, izinkinga zokuzwa.
• Amaphaphu angakakhuli kahle.
• Izinkinga zokubona.

Ngenxa yokuthi lezi zimpawu zesitho sangaphakathi zingasongela ukuphila, cishe u-80% wezingane ezitholakale zine-Trisomy 13 ziyafa ngaphambi kosuku lwazo lokuzalwa lokuqala.Ngisho nalabo abaphila kanjalo bangaba nezinye izimo ezisongela ukuphila, njengomdlavuza kanye nokuquleka, ngemva konyaka wokuqala.

Yini ebangela i-Trisomy 13 (i-Patau Syndrome)?

Njengoba sishilo ngaphambili, i-Trisomy 13 ibangelwa ukwengezwa kwe-chromosome eyengeziwe ngaphezu kwe-chromosome 13. Ngakho-ke, umuntu one-trisomy 13 unama-chromosome angu-47 esewonke, esikhundleni sama-chromosome ajwayelekile angu-46.

Cabanga nje, imizimba yethu inokuthile okubizwa ngokuthi ama-chromosome. Lawa yi-DNA (i-Deoxyribonucleic Acid) emaseli ethu, egcina imiyalelo imizimba yethu eyidingayo ukuze ikhule futhi isebenze. Izakhi zofuzo ziyizingxenye zale DNA, njengezahluko encwadini yemiyalelo.

Amaseli aqala ukwakheka ezithweni zokuzala, lapho isidoda neqanda kuhlangana ndawonye ukuze kwakhiwe iseli elivundisiwe. Amaseli amasha ayahlukana futhi enze amakhophi awo ngengxenye ye-DNA yeseli lokuqala. Phakathi nale nqubo yokuhlukaniswa kwamaseli, ngezinye izikhathi i-chromosome yesithathu ingafakwa kuma-chromosome amabili ngengozi - lokhu kubizwa ngokuthi i-trisomy. Kufana nokukopisha incwadi yemiyalelo igama negama bese uphuthelwa uhlamvu. Lapho lokhu 'uhlobo' kwenzeka, kuvela izimpawu ze-trisomy 13. Ngoba amaseli awatholi imiyalelo ayidingayo ukuze akhule futhi asebenze kahle.

Kunezindlela ezintathu i-trisomy 13 engenzeka ngazo:

Kunezindlela ezintathu eziyinhloko i-trisomy 13 engenzeka ngazo, kuye ngokuthi i-chromosome 13 ihlanganiswe kanjani:

1. I-Trisomy ephelele 13: Lena yiyona evame kakhulu. Okwenzekayo lapha ukuthi ngaphambi kokukhulelwa, lapho kwakheka isidoda neqanda, iphutha lokukopisha elingahleliwe libangela ukuthi kufakwe izinto eziningi zofuzo ku-chromosome 13 kunalokho okudingekayo. Lokhu kusho ukuthi iseli ngalinye lomntwana linamakhophi amathathu e-chromosome 13. Lezi zinto ezengeziwe zofuzo yizona ezibangela izimpawu.

2. Ukudluliselwa kwe-chromosome: Lokhu kwenzeka kubantu abangaba ngu-20% abane-trisomy 13. Lokhu kwenzeka lapho, ngesikhathi sokuthuthukiswa kombungu, ingxenye ye-chromosome 13 inamathela kwenye i-chromosome eseduze (isibonelo, i-chromosome 14). Kulesi simo, ngokuvamile kuba nezibhangqwana ezimbili ze-chromosome 13, kodwa ngaphezu kwalokho, ingxenye ye-chromosome 13 inamathela kwenye i-chromosome.

3. I-Mosaic Trisomy 13: Lokhu akuvamile kakhulu. Okwenzekayo lapha ukuthi amanye amangqamuzana emzimbeni kuphela anekhophi eyengeziwe ye-chromosome 13, hhayi wonke amangqamuzana. Okusho ukuthi, amanye amangqamuzana anama-chromosome amathathu kwangu-13, kanti amanye amangqamuzana anama-pair amabili ajwayelekile (i-euploid). Ubukhali bezimpawu ku-mosaic trisomy 13 buxhomeke enanini lamangqamuzana ane-chromosome eyengeziwe. Lapho amangqamuzana amaningi enekhophi eyengeziwe, kulapho izimpawu ziba zimbi kakhulu.

Itholakala kanjani i-Trisomy 13 (Patau Syndrome)?

Ngesikhathi se-trimester yokuqala yokukhulelwa, cishe amasonto 11-14, udokotela wakho uzokwenza ukuhlolwa kwe-ultrasound okuvamile ngaphambi kokubeletha.Ngaphezu kwalokho , kunconywa ukuhlolwa kofuzo . Lokhu kuskena kuhlola izinto ezifana noketshezi oluningi lwe-amniotic kanye nanoma yikuphi ukukhubazeka ekukhuleni komntwana. Lokhu kufaka phakathi nokuhlolwa kwegazi.

Uma lezi zivivinyo zokuqala zibonisa ingozi, udokotela angase aphakamise ezinye izivivinyo zokuxilonga. Ukuxilongwa kungaqinisekiswa ngemva kokuzalwa komntwana. Udokotela angabe esehlola umntwana ngokomzimba ukuze abheke izimpawu, futhi uma kudingeka, enze izivivinyo ezikhethekile ze-chromosome, njengokuhlolwa kwe-karyotype . Lokhu kuhlolwa kwe-karyotype kusetshenziselwa ukuqinisekisa ukungalingani kwe-chromosome ngqo.

Iphathwa kanjani i-Trisomy 13 (Patau Syndrome)?

Ingane ene-Trisomy 13 izodinga ukwelashwa kokubili ekuzalweni kanye nesikhathi eside, ukulawula izimpawu nokwenza umntwana azizwe ekhululekile ngangokunokwenzeka. Kodwa-ke, kumelwe futhi siqonde ukuthi ayikho ikhambi eliphelele lalesi simo . Ukwelashwa kuhloswe ngokuyinhloko ukulawula izimpawu nokuthuthukisa ikhwalithi yokuphila.

Izindlela zokwelapha izingane ezizalwa zine-trisomy 13 zifaka:

• Ukusekelwa kwezemfundo: Izinhlelo zemfundo ezenzelwe izingane ezinezidingo ezikhethekile.
• Imithi yokunciphisa izimpawu: Isibonelo, imithi yokulawula ukuquleka noma isifo senhliziyo.
• Ukwelapha ngenkulumo, ukuziphatha kanye nomzimba: Lokhu kwelashwa kusiza ekuthuthukiseni amakhono engane.
• Ukuhlinzwa ukuze kulungiswe ukukhubazeka ngokomzimba: Isibonelo, ukuhlinzwa kungenziwa ukuze kulungiswe ulwelwesi oluqhekekile noma ukukhubazeka okuthile kwenhliziyo. Kodwa-ke, lokhu kuhlinzwa kwenziwa ngemva kokubheka impilo yonke yomntwana.

Kwezinye izimo ze-trisomy 13, ingane ingase ingafi kuze kube usuku lwayo lokuzalwa lokuqala, kodwa ubukhulu bezimpawu bungayivimbela ekufinyeleleni usuku lwayo lokuzalwa lokuqala. Ezimweni eziningi, ukuxilongwa kwe-trisomy 13 kuholela ekuphuphumeni kwesisu noma ekulahlekelweni ukukhulelwa. Phakathi nalesi sikhathi esinzima, kubalulekile ukufuna ukwesekwa kubangani bakho, umndeni, kanye nabasebenzi bezokwelapha ukuze bakusize ubhekane nakho. Ukwelulekwa ngosizi noma ukwelulekwa ngokushonelwa kungaba yindlela enhle yokukusiza ubhekane nokulahlekelwa othandekayo, ikakhulukazi ingane.

Ngingayinciphisa kanjani ingozi yokuba ingane yami ibe ne-Trisomy 13 (Patau Syndrome)?

I-Trisomy 13 iyiphutha lofuzo elivela ngokungahleliwe, ngakho-ke ayikho indlela yokulivimbela. Lokho kusho ukuthi alinakubangelwa yinoma yini oyenzile noma ongayenzanga. Kodwa-ke, njengoba sishilo ngaphambili, uma uneminyaka engaphezu kwengu-35 lapho ukhulelwa, ingozi yakho yokuthola umntwana onesimo sofuzo iphakeme kancane.

Uma uhlela ukuba nomntwana, khuluma nodokotela wakho mayelana nokwelulekwa ngofuzo.Kubalulekile ukuqaphela ukuhlolwa kwezakhi zofuzo nokuqonda ingozi yokuba nengane enesifo sofuzo.

Yini ongayilindela uma unengane ene-Trisomy 13 (Patau Syndrome)?

Nakuba lokhu kungase kube nzima ukukuzwa, kubalulekile ukukhuluma iqiniso. Kunzima ukusho noma yini enhle mayelana nokubikezelwa kwengane etholakale ine-Trisomy 13. Lokhu kungenxa yokuthi izinkinga ezinkulu zingavela ngesikhathi sokukhulelwa, ikakhulukazi ezithinta izitho ezibalulekile zomntwana, njengobuchopho, inhliziyo, umgogodla, namaphaphu.

Uma ingane ine-trisomy 13, ukuphuphuma kwesisu kuvamile enyangeni yokuqala. Ama-80% ezinsana ezizalwa zine-trisomy 13 aphila isikhathi esifushane. Iningi lezinsana liyafa phakathi namasonto ambalwa okuqala okuphila noma ngaphambi kosuku lwazo lokuzalwa lokuqala. Cishe ama-10% kuphela aphila ngaphezu konyaka wazo wokuqala. Lezi zingane nazo kufanele ziphile nezinkinga ezinkulu zempilo kanye nokubambezeleka kokukhula kwesikhathi eside.

Ngingazinakekela kanjani ngemva kokuthola ukuthi ngine-Trisomy 13 (Patau Syndrome)?

Ukuthola ukuxilongwa kwe-Trisomy 13, noma ukulahlekelwa ingane ngenxa yayo, kuyinto enzima kakhulu ukubhekana nayo. Kubaluleke kakhulu ukuthi uzinakekele wena nomndeni wakho ngalesi sikhathi.

• Uma uzizwa udangele, ukhathazekile, ucindezelekile, noma ungenathemba, futhi unenkinga yokubhekana nokulahlekelwa ingane yakho, bona udokotela noma umeluleki wezempilo yengqondo .
• Ukuthola iseluleko kungaba usizo olukhulu ekubhekaneni nalolu sizi.
• Yabelana ngemizwa yakho nomndeni wakho nabangane abaseduze.
• Khumbula ukuthi awuwedwa. Futhi, funa amaqembu okusekelana lapho ungathola khona ukwesekwa kwabanye abazali abake babhekana nobunzima obufanayo.

Kufanele ngimbone nini udokotela?

Bonana nodokotela ngokushesha uma ingane yakho ibonisa izimpawu ezinzima ze-Trisomy 13. Lokhu kusho ukuthi:

• Uma kunzima ukudla, uma ubisi lubonakala lunamathele emphinjeni.
• Uma ukuphefumula kunzima, uma indlela yokuphefumula ihlukile.
• Uma ukushaya kwenhliziyo kungajwayelekile.
• Uma kwenzeka ukuxhuzula.

Futhi, uma ubhekene nokudabuka okungabekezeleleki, ukukhathazeka, noma ukucindezeleka ngenxa yokulahlekelwa ingane noma lokhu kutholakala, qiniseka ukuthi ubona udokotela futhi ukhulume ngakho.

Yimiphi imibuzo okufanele ngiyibuze udokotela wami?

Kuvamile ukuba nemibuzo eminingi ngesikhathi esinjengalesi. Ungesabi ukubuza udokotela wakho le mibuzo:

• "Iyini ingozi yami/yethu yokuba nengane enesifo sofuzo?"
• "Yiziphi izindlela zokwelapha ozincomayo ukusiza ingane yami iphile ngemva kokuzalwa kwayo?"
• "Yiziphi izinto ezikhethekile okufanele ngizazi lapho nginakekela ingane ezelwe inalesi simo?"
• "Uma ngilahlekelwa yingane yami, ungangitshela ngezinsizakalo zokwelulekwa noma ezinye izinsiza ezizongisiza ngibhekane nosizi?"

Uyini umehluko phakathi kwe-Trisomy 13 ne-Trisomy 18?

I-Trisomy 13 kanye ne-Trisomy 18 – eyaziwa nangokuthi i-Edwards syndrome – zifana ngoba zombili zihilela ukwengezwa kwe-chromosome eyengeziwe kumbhangqwana. Umehluko uwukuthi ngabe i-chromosome eyengeziwe ifakiwe ku-chromosome 13 noma ku-chromosome 18. Kuzo zombili izimo, isiguli sinama-chromosome angu-47, esikhundleni sama-chromosome ajwayelekile angu-46.

Izimpawu zazo zombili lezi zimo zifana kakhulu, futhi zombili zimbi kakhulu. Imiphumela ivame ukusongela impilo. Abazali abaningi babhekana nokuphuphuma kwezisu, ukuzalwa kwengane ifile, noma ingane ishone ingakafiki usuku lwayo lokuzalwa.

Umyalezo obalulekile wokwenza isinqumo sakho

Uma uthola ukuthi ingane yakho ine-Trisomy 13 futhi ngenxa yalokho kulindeleke ukuthi iphile impilo emfushane, ungase uzizwe ushaqekile kakhulu, udabuke, futhi uzwe ubuhlungu. Ungase uzizwe imizwa eminingi ngesikhathi esisodwa, njengokudabuka, intukuthelo, ukudideka, ukungabi namandla, noma ungase uzizwe ulahlekile. Yonke le mizwa ijwayelekile.

Khumbula ukuthi awuwedwa kulesi sikhathi esinzima. Kubalulekile ukuba nabantu abakusekelayo abakuzungezile, okuhlanganisa umndeni wakho, oshade naye, nabangane othembekile, kanye nochwepheshe bezempilo yengqondo njengodokotela, abahlengikazi, kanye nabeluleki bosizi abangakusiza ukuthi udlule kulesi simo esinzima. Ungesabi ukukhuluma ngemizwa yakho nokucela usizo.

Ngiyethemba ukuthi lolu lwazi lukusizile ukuthi uqonde isimo esibizwa ngokuthi i-Trisomy 13 (i-Patau Syndrome).

I- Trisomy 13, i-Patau syndrome, izifo zofuzo, ukukhubazeka kwe-chromosome, ukukhulelwa, impilo yengane, ukukhubazeka kokuzalwa