Ingaba umntwana wakho unale meko ingaqhelekanga yemfuza? Masithethe ngeTrisomy 13 (Trisomy 13 - Patau Syndrome)!

Xa ulindele umntwana, okanye unomntwana omncinci, kuyinto eqhelekileyo ukuba uzive ukhathazekile okanye unomdla malunga nempilo yakhe, akunjalo? Ngamanye amaxesha sifunda ngezifo ngamagama esingazange sive ngawo. Umzekelo, imeko engaqhelekanga yemfuza abantu abaninzi abangayaziyo, kodwa enokuchaphazela umntwana, ibizwa ngokuba yiTrisomy 13. Abanye abantu bayibiza ngokuba yiPatau Syndrome. Nangona oku kunokuvakala kuyoyikisa kancinci, kubalulekile ukuba nolwazi olupheleleyo ngayo. Ngoko ke, masithethe ngayo ngokulula, ngendlela onokuyiqonda?

Ngaba uyazi ukuba yintoni iTrisomy 13?

Ngamafutshane, iseli nganye emzimbeni wethu ineepakethe ezincinci ezibizwa ngokuba ziichromosomes ezigcina ulwazi lwemfuza. Ezi zifana neencwadi zemiyalelo ezixelela imizimba yethu indlela yokukhula nokusebenza. Zicinge njengezahluko encwadini. Ngokwesiqhelo, sinezibini, okanye ezimbini, zechromosome nganye. Sifumana enye kumama wethu kwaye enye kutata wethu.

Nangona kunjalo, umntwana oneTrisomy 13 uneekopi ezintathu zechromosome ye-13 endaweni yezimbini. Yiyo loo nto ibizwa ngokuba yi-'trisomy' ('tri' ithetha ezintathu). Le chromosome eyongezelelweyo ichaphazela ubuso bomntwana, ingqondo, intliziyo, kunye nophuhliso lomzimba ngeendlela ezahlukeneyo. Oku kunokuba yimeko esongela ubomi bomntwana. Ke ngoko, ngamanye amaxesha kukho umngcipheko wokuphuphuma kwesisu ngexesha lokukhulelwa, okanye, ngelishwa, umngcipheko wokulahlekelwa ngumntwana kunyaka wokuqala wobomi uphezulu.

Ngubani ochaphazeleka kakhulu yile meko?

Le yinto enokwenzeka nakubani na. Kuba ibangelwa yimpazamo yokukopa eyenzeka ngengozi xa iiseli zahlukana ngexesha lokukhula komntwana ongekazalwa. Oko kukuthi, ayibangelwa yimpazamo kamama okanye katata. Nangona kunjalo, ezinye izifundo zifumanise ukuba oomama abangaphezu kweminyaka engama-35 ubudala banomngcipheko ophezulu wokufumana le meko yemfuza xa benomntwana . Nangona kunjalo, oku akuthethi ukuba akwenzeki koomama abancinci, kwaye akwenzeki nakubani na omdala.

Ukuze ufumane ukuba usemngciphekweni wolu hlobo lwesi sifo semfuza, kulungile ukuthetha nogqirha wakho malunga novavanyo lwemfuza , ingakumbi ukuba uceba ukuqala usapho okanye ukhulelwe.

Ixhaphake kangakanani iTrisomy 13 (Patau Syndrome)?

Le yimeko engaqhelekanga kakhulu. Ichaphazela malunga nomntu omnye kwabayi-10,000 ukuya kwabayi-20,000 abazalwa bephila. Izinga lokufa liphezulu kwiintsuku zokuqala zobomi. Ngenxa yokuba iimeko ezisongela ubomi ezifana neengxaki zentliziyo kunye nokuphazamiseka komgogodla zinokuvela ngexesha lokukhulelwa, ukukhulelwa okuninzi kuphelisa ukuphuphuma kwesisu. Yi-5% ukuya kwi-10% kuphela yeentsana ezizelwe zineTrisomy 13 eziphila ngaphaya konyaka wazo wokuqala. Kuyaqondakala ukuba uzive ulusizi xa usiva ezi nkcukacha-manani, kodwa kubalulekile ukuba uqaphele le meko.

I-Trisomy 13 (iPatau Syndrome) iyichaphazela njani umzimba womntwana wam?

I-Trisomy 13 inokuba nefuthe elikhulu ekukhuleni komntwana wakho. Ezi ziphumo zinokuhluka ukusuka kumntwana omnye ukuya komnye.

Umzekelo,

• I-Cleft palate okanye i-cleft lip
• Ukuba neminwe eyongezelelweyo ezandleni nasezinyaweni (nge-polydactyly)
• Ubuthathaka bemisipha (hypotonia) , oko kuthetha ukuba umzimba womntwana uziva ungenabomi.
• Intloko encinci (i-microcephaly)

Ukungaqheleki kophuhliso lomzimba kunokubonwa.

Ikwachaphazela nophuhliso lwamalungu angaphakathi omntwana. Oku kunokubangela iingxaki kwizitho ezibalulekileyo zomzimba, ingakumbi intliziyo, ingqondo, kunye nezintso. Oku kunokubangela iimpawu ezisongela ubomi. Emva kokuba umntwana ezelwe, umntwana uya kugcinwa kwiYunithi yoKhathalelo oluNzulu lweZifo eziSandulelayo (i-NICU) . Apho, oogqirha kunye nabahlengikazi baya kunika umntwana unyango olufunekayo kunye nonyango olusekelwe kwiimpawu zomzimba zomntwana ukuze afumane ithuba elihle lokusinda.

Zithini iimpawu zeTrisomy 13 (Patau Syndrome)?

Ezi mpawu zinokwahluka kumntu nomntu, kwaye ubukhali bazo bungahluka. Abanye abantwana banokuba neempawu ezininzi, ngelixa abanye benokuba neempawu ezimbalwa.

Iimpawu eziphambili ezibonakalayo zezi:

• Ukuphazamiseka kwentliziyo okubangelwa kukuzalwa. Le yimeko eqhelekileyo kakhulu.
• Iingxaki zophuhliso lomzimba, ingakumbi iingxaki zomqolo.
• Iingxaki ezinkulu zokusebenza kwengqondo. Oku kuthetha ukuba inempembelelo enkulu ekuphuhlisweni kwengqondo yomntwana.
• Izitho zangaphakathi ezingaphuhliswanga kakuhle.

Zithini iimpawu zomzimba?

Nazi ezinye zeempawu zangaphandle:

• Imilebe eqhekekileyo okanye incakuba eqhekekileyo.
• Ubunzima bokukhula kobunzima, nto leyo ethetha ukuba umntwana akafumani ubisi olwaneleyo kwaye akakwazi ukuncancisa kakuhle.
• Ukuba neminwe okanye iinzwane ezingaphezulu (ezine-polydactyly).
• Iindlebe ezisezantsi.
• Ukungaqheleki ekuphuhlisweni kweengalo nemilenze.
• Ubuthathaka bemisipha (hypotonia).
• Intloko encinci (i-microcephaly) kunye nomhlathi omncinci (i-micrognathia).
• Amehlo amancinci kakhulu, aqinileyo, okanye aphuhlileyo.

Ziziphi iimpawu ezichaphazela amalungu angaphakathi?

Le meko ikwachaphazela amalungu angaphakathi emzimbeni:

• Iingxaki zesisu (GI) ezibangela ubunzima bokutya.
• Ukumelwa yintliziyo.
• Iingxaki zokuva, oko kukuthi, iingxaki zokuva.
• Imiphunga engaphuhliswanga kakuhle.
• Iingxaki zokubona.

Ngenxa yokuba ezi mpawu zangaphakathi zinokuba yingozi ebomini, malunga nama-80% eentsana ezifunyaniswe zineTrisomy 13 zifa ngaphambi kokuba zifikelele kwiminyaka yazo yokuqala.Kwanabo baphila ngolo hlobo banokufumana ezinye iimeko ezisongela ubomi, ezinje ngomhlaza kunye nokuxhuzula, emva konyaka wokuqala.

Yintoni ebangela iTrisomy 13 (Patau Syndrome)?

Njengoko besitshilo ngaphambili, iTrisomy 13 ibangelwa kukongezwa kwechromosome eyongezelelweyo ukongeza kwichromosome 13. Ngoko ke, umntu onetrisomy 13 uneechromosome ezingama-47 zizonke, endaweni ye-46 eqhelekileyo.

Khawucinge nje, imizimba yethu inento ebizwa ngokuba zii-chromosomes. Ezi yi -DNA (i-Deoxyribonucleic Acid) kwiiseli zethu, egcina imiyalelo efunekayo kwimizimba yethu ukuze ikhule kwaye isebenze. Iijini ziinxalenye zale DNA, njengezahluko kwincwadi yemiyalelo.

Iiseli ziqala ukwakheka kwizitho zokuzala, xa isidoda neqanda zidibana ukuze zenze iseli evundisiweyo. Iiseli ezintsha ziyahlukana kwaye zenze iikopi zazo ngesiqingatha se-DNA yeseli yokuqala. Ngexesha lale nkqubo yokwahlukana kweeseli, ngamanye amaxesha i-chromosome yesithathu inokongezwa kwisibini see-chromosomes ngengozi - oku kubizwa ngokuba yi-trisomy. Kufana nokukopa incwadi yemiyalelo igama negama uze uphoswe ngunobumba. Xa olu 'typo' lusenzeka, iimpawu ze-trisomy 13 ziyenzeka. Kuba iiseli azifumani miyalelo ziyidingayo ukuze zikhule kwaye zisebenze ngokufanelekileyo.

Kukho iindlela ezintathu ezinokwenzeka ngazo i-trisomy 13:

Kukho iindlela ezintathu eziphambili apho i-trisomy 13 inokwenzeka khona, kuxhomekeke kwindlela i-chromosome 13 edityaniswe ngayo:

1. I-Trisomy epheleleyo 13: Le yeyona ixhaphakileyo. Okwenzekayo apha kukuba ngaphambi kokukhulelwa, xa kwakheka isidoda neqanda, impazamo yokukopa ngokungacwangciswanga ibangela ukuba kongezwe izinto ezininzi zemfuza kwi-chromosome 13 kunokuba kufuneka. Oku kuthetha ukuba iseli nganye yomntwana ineekopi ezintathu ze-chromosome 13. Ezi zinto zongezelelweyo zemfuza zizo ezibangela iimpawu.

2. Ukutshintshwa kweseli: Oku kwenzeka kubantu abamalunga nama-20% abane-trisomy 13. Oku kwenzeka xa, ngexesha lokukhula kwe-embryonic, isiqwenga se-chromosome 13 sinamathela kwenye i-chromosome ekufutshane (umzekelo, i-chromosome 14). Kule meko, ngokuqhelekileyo kukho iipere ezimbini ze-chromosome 13, kodwa ukongeza, isiqwenga se-chromosome 13 sinamathele kwenye i-chromosome.

3. I-Mosaic Trisomy 13: Oku kunqabile kakhulu. Okwenzekayo apha kukuba ezinye iiseli emzimbeni zinekopi eyongezelelweyo ye-chromosome 13, kungekhona zonke iiseli. Oko kukuthi, ezinye iiseli zinee-chromosome ezintathu kwezili-13, ngelixa ezinye iiseli zinezibini ezimbini eziqhelekileyo (i-euploid). Ubunzima beempawu kwi-mosaic trisomy 13 buxhomekeke kwinani leeseli ezine-chromosome eyongezelelweyo. Okukhona iiseli zininzi zinekopi eyongezelelweyo, kokukhona iimpawu zisiba mbi ngakumbi.

Ifunyanwa njani iTrisomy 13 (Patau Syndrome)?

Ngexesha lekota yokuqala yokukhulelwa, malunga neveki ye-11-14, ugqirha wakho uya kwenza ii-ultrasounds eziqhelekileyo ngaphambi kokukhulelwa.Ukongeza , kucetyiswa uvavanyo lokuhlola i-genetic . Ezi scan zijonga izinto ezifana nolwelo olugqithisileyo lwe-amniotic kunye nazo naziphi na iingxaki ekukhuleni komntwana. Ezi ziquka novavanyo lwegazi.

Ukuba ezi mvavanyo zokuqala zibonisa umngcipheko, ugqirha unokucebisa ezinye iimvavanyo zokuxilonga. Ukuxilongwa kunokuqinisekiswa emva kokuba umntwana ezelwe. Ugqirha angamxilonga umntwana ngokomzimba ukuze ajonge iimpawu, kwaye ukuba kuyimfuneko, enze iimvavanyo ezikhethekileyo ze-chromosome, ezifana novavanyo lwe-karyotype . Olu vavanyo lwe-karyotype lusetyenziselwa ukuqinisekisa ukungahambi kakuhle kwe-chromosome.

Inyangwa njani iTrisomy 13 (Patau Syndrome)?

Usana oluneTrisomy 13 luza kufuna unyango ekuzalweni nasekuhambeni kwexesha elide, ukulawula iimpawu nokwenza umntwana azive ekhululekile kangangoko. Nangona kunjalo, kufuneka siqonde ukuba akukho nyango lupheleleyo lwale meko . Unyango lujolise kakhulu ekulawuleni iimpawu kunye nokuphucula umgangatho wobomi.

Unyango lwabantwana abazelwe bene-trisomy 13 luquka:

• Inkxaso yemfundo: Iinkqubo zemfundo ezenzelwe abantwana abaneemfuno ezizodwa.
• Amayeza okunciphisa iimpawu: Umzekelo, amayeza okulawula ukuxhuzula okanye isifo sentliziyo.
• Unyango lokuthetha, ukuziphatha kunye nonyango lomzimba: Olu nyango lunceda ekuphuhliseni izakhono zomntwana.
• Utyando lokulungisa iingxaki zomzimba: Umzekelo, utyando lunokwenziwa ukulungisa i-cleft palate okanye iziphene ezithile zentliziyo. Nangona kunjalo, olu tyando lwenziwa emva kokuqwalasela impilo yomntwana iyonke.

Kwezinye iimeko ze-trisomy 13, umntwana usenokungafi de abone usuku lwakhe lokuzalwa lokuqala, kodwa ubukhali beempawu bunokuthintela ekufikeleleni kusuku lwakhe lokuzalwa lokuqala. Kwiimeko ezininzi, ukuxilongwa kwe-trisomy 13 kubangela ukuba isisu siphume okanye silahlekelwe kukukhulelwa. Ngeli xesha linzima, kubalulekile ukufuna inkxaso kubahlobo bakho, usapho, kunye nabasebenzi bezonyango ukuze bakuncede uhlangabezane nalo. Ingcebiso yosizi okanye ingcebiso yokufelwa inokuba yindlela entle yokukunceda uhlangabezane nokulahlekelwa ngumntu omthandayo, ingakumbi umntwana.

Ndingawunciphisa njani umngcipheko wokuba umntwana wam abe neTrisomy 13 (Patau Syndrome)?

I-Trisomy 13 sisiphene semfuza esenzeka ngokungacwangciswanga, ngoko ke akukho ndlela yokusithintela. Oko kuthetha ukuba asinakubangelwa yinto oyenzileyo okanye ongayenzanga. Nangona kunjalo, njengoko besitshilo ngaphambili, ukuba ungaphezulu kweminyaka engama-35 xa ukhulelwa, umngcipheko wakho wokuba nomntwana onesimo semfuza uphezulu kancinci.

Ukuba uceba ukuba nomntwana, thetha nogqirha wakho malunga neengcebiso zofuzo.Kubalulekile ukuba uqaphele uvavanyo lwemfuza kwaye uqonde umngcipheko wokuba nomntwana onemeko yemfuza.

Yintoni onokuyilindela ukuba unomntwana oneTrisomy 13 (Patau Syndrome)?

Nangona oku kunokuba nzima ukukuva, kubalulekile ukuthetha inyani. Kunzima ukuthetha nantoni na elungileyo malunga noqikelelo lomntwana ofunyenwe eneTrisomy 13. Oku kungenxa yokuba iingxaki ezinkulu zinokwenzeka ngexesha lokukhulelwa, ingakumbi ezichaphazela amalungu abalulekileyo omntwana, njengengqondo, intliziyo, umqolo, kunye nemiphunga.

Ukuba umntwana une-trisomy 13, ukuphuphuma kwesisu kuxhaphakile kwi-trimester yokuqala. Ama-80% eentsana ezizalwa zine-trisomy 13 aphila ubomi obufutshane. Uninzi lweentsana lufa kwiiveki zokuqala zobomi okanye ngaphambi komhla wazo wokuqala wokuzalwa. Malunga ne-10% kuphela eziphila ngaphaya konyaka wazo wokuqala. Aba bantwana kufuneka baphile neengxaki zempilo ezinzulu kunye nokulibaziseka kokukhula kwixesha elide.

Ndingazinyamekela njani emva kokuba ndifunyaniswe ndineTrisomy 13 (Patau Syndrome)?

Ukufumana isifo seTrisomy 13, okanye ukulahlekelwa ngumntwana ngenxa yaso, yinto enzima kakhulu ukuyinyamezela. Kubaluleke kakhulu ukuba uzikhathalele wena nosapho lwakho ngeli xesha.

• Ukuba uziva ulusizi, uxhalabile, udandathekile, okanye ungenathemba, kwaye unengxaki yokujongana nokulahlekelwa ngumntwana wakho, bona ugqirha okanye umcebisi wezempilo yengqondo .
• Ukufumana ingcebiso kunokuba luncedo kakhulu ekulawuleni le ntlungu.
• Yabelana ngeemvakalelo zakho nosapho lwakho kunye nabahlobo abasondeleyo.
• Khumbula ukuba awuwedwa. Kwakhona, khangela amaqela enkxaso apho unokufumana khona inkxaso kwabanye abazali abaye badlula kwiimeko ezifanayo.

Ndifanele ndimbone nini ugqirha?

Bona ugqirha ngokukhawuleza ukuba umntwana wakho ubonisa iimpawu eziqatha zeTrisomy 13. Oku kuthetha ukuba:

• Ukuba kunzima ukutya, ukuba ubisi lubonakala lunamathele emqaleni.
• Ukuba ukuphefumla kunzima, ukuba indlela yokuphefumla yahlukile.
• Ukuba ukubetha kwentliziyo akuhambelani kakuhle.
• Ukuba kuvela ukuxhuzula.

Kwakhona, ukuba uziva ulusizi, uxhalabile, okanye uxinezeleko olungapheliyo ngenxa yokulahlekelwa ngumntwana okanye olu xilongo, qiniseka ukuba ubona ugqirha uze uthethe ngako.

Ndingayibuza yiphi imibuzo ugqirha wam?

Kuqhelekile ukuba nemibuzo emininzi ngexesha elinje. Ungoyiki ukubuza ugqirha wakho le mibuzo:

• "Ingaba ndingu/singakanani ingozi yokuba nomntwana onesifo semfuza?"
• "Zeziphi iindlela zonyango ozicebisayo ukunceda umntwana wam aphile emva kokuba ezelwe?"
• "Zeziphi izinto ezikhethekileyo ekufuneka ndizazi xa ndinyamekela umntwana ozelwe enale meko?"
• "Ukuba ndilahlekelwa ngumntwana wam, ungandixelela ngeenkonzo zokunika iingcebiso okanye ezinye izixhobo eziza kundinceda ndijamelane nentlungu?"

Yintoni umahluko phakathi kweTrisomy 13 kunye neTrisomy 18?

I-Trisomy 13 kunye ne-Trisomy 18 – ekwaziwa ngokuba yi -Edwards syndrome – ziyafana kuba zombini zibandakanya ukongezwa kwe-chromosome eyongezelelweyo kwisibini. Umahluko kukuba ingaba i-chromosome eyongezelelweyo yongezwa kwi-chromosome 13 okanye kwi-chromosome 18. Kuzo zombini iimeko, isigulana sinee-chromosome ezingama-47 zizonke, endaweni ye-46 eqhelekileyo.

Iimpawu zezi meko zombini ziyafana kakhulu, kwaye zombini zimbi kakhulu. Iziphumo zihlala zibeka ubomi esichengeni. Abazali abaninzi bafumana ukuphuphuma kwezisu, ukuzalwa kwabantwana abaswelekileyo, okanye umntwana afe ngaphambi komhla wakhe wokuqala wokuzalwa.

Umyalezo obalulekileyo wokwenza isigqibo

Xa ufumanisa ukuba umntwana wakho uneTrisomy 13 kwaye ngenxa yoko kulindeleke ukuba aphile ubomi obufutshane, unokuziva wothukile kakhulu, usizi, kunye nentlungu. Unokuziva iimvakalelo ezininzi ngaxeshanye, ezinje ngosizi, umsindo, ukudideka, ukungabi namandla, okanye unokuziva ulahlekile. Zonke ezi mvakalelo ziqhelekile.

Khumbula ukuba awuwedwa ngeli xesha linzima. Kubalulekile ukuba nabantu abakuxhasayo abakungqongileyo, kuquka usapho lwakho, iqabane lakho, nabahlobo obathembayo, kunye neengcali zempilo yengqondo ezifana noogqirha, abahlengikazi, kunye nabacebisi bentlungu abanokukunceda udlule kolu bunzima. Ungaze woyike ukuthetha ngeemvakalelo zakho kwaye ucele uncedo.

Ndiyathemba ukuba olu lwazi lukuncede ukuba uqonde imeko ebizwa ngokuba yiTrisomy 13 (Patau Syndrome).

I- Trisomy 13, i-Patau syndrome, izifo zemfuza, ukungaqheleki kwe-chromosome, ukukhulelwa, impilo yomntwana, iziphene zokuzalwa