Ngamanye amaxesha xa ugqirha esixelela igama lemeko umntwana wakho anayo, siziva sisoyika kakhulu, sothukile, kwaye sididekile . Elithi '22q11.2 Deletion Syndrome' lelinye lamagama anjalo. Musa ukoyika, nokuba igama livakala linzima kancinci. Ukuqonda le meko ngokulula kuya kuba luncedo olukhulu kuwe nakumntwana wakho. Masithethe ngale nto ngokulula, ukususela ekuqaleni.
Okokuqala, masibone ukuba zeziphi ezi genes kunye neechromosomes.
Ngamafutshane, imizimba yethu ifana nencwadi enkulu yemiyalelo. Izahluko ezikule ncwadi zezo sizibiza ngokuba 'ziiChromosomes'. Ngokwesiqhelo, iseli yomntu ineechromosomes ezingama-46. Ichromosome nganye inamawaka 'eegene', ulwazi oluchaza zonke iimpawu zomzimba wethu. Yonke into ukususela kubude bethu ukuya kumbala wolusu lwethu ukuya kuhlobo lweenwele zethu imiselwa zezi genes.
I-'22q11.2 deletion syndrome' yimeko yemfuza. Okwenzekayo apha kukuba inxalenye encinci kakhulu ye-chromosome 22, kwii-chromosomes ezingama-46 esizikhankanyileyo, ilahleka. Igama lesiNgesi elithi 'deletion' lithetha 'ukucima' okanye 'ukunciphisa'. Xa inxalenye ye-chromosome ilahleka ngale ndlela, ii-genes ezazikwelo cala nazo ziyalahleka. Yiyo loo nto ukusebenza kwamalungu ahlukeneyo omzimba, njengentliziyo, inkqubo yomzimba yokuzikhusela, kunye nengqondo, kunokuchaphazeleka.
Ingaba oku kuyafana 'neDiGeorge Syndrome'?
Ewe, kusenokwenzeka ukuba ukhe weva igama elithi 'DiGeorge Syndrome'. Eli lelinye lawona magama abonisa imeko yokususwa kwe-22q11.2. Ngaphambili, ngaphambi kokuba kwenziwe uvavanyo lwemfuza, oogqirha babesebenzisa amagama ahlukeneyo kweli qela leempawu, njenge-'DiGeorge Syndrome'. Kodwa kamva, uvavanyo lwemfuza lwafumanisa ukuba unobangela wezi meko ezininzi kukulahleka kwenxalenye ye-chromosome 22. Ngoko ke zonke zifakwa phantsi kwesambulela esinye, '22q11.2 deletion syndrome'.
Ayingabo bonke abantwana abanale meko abaya kuba neempawu ezifanayo. Abanye abantwana banokuba neempawu ezimbalwa, ngelixa abanye banokuba neempawu ezininzi. Kuxhomekeke kwinani kunye nohlobo lwezakhi zofuzo ezingekhoyo.
Apha ngezantsi kukho ezinye zeengxaki eziqhelekileyo ezinxulumene nale meko.
| Inkqubo/ilungu elichaphazelekayo | Iingxaki ezinokwenzeka |
|---|---|
| Intliziyo | Isifo sentliziyo esizalwa naso. Ezinye zezi zinokuba yingozi ebomini ukuba azilungiswa ngokukhawuleza ngotyando. |
| Uphuhliso kunye nokuziphatha | Ukulibaziseka ekufundeni izinto ezifana nokuhamba nokuthetha. Iimeko ezinje ngokukhubazeka kokufunda, i-autism, okanye i-ADHD (i-Attention Deficit Hyperactivity Disorder). |
| I-Hormonal | Iingxaki zokulawula amanqanaba e-calcium ngenxa yokuncipha kophuhliso lwe-parathyroid glands. Oku kunokubangela ukungcangcazela okanye ukuxhuzula. |
| Umlomo kunye nokondla | Ukuba nencakuba okanye umlomo oqhekekileyo. Ubunzima bokuginya kunye nokukhupha amanzi empumlweni. |
| Iindlebe kunye nokuva | Usulelo lwendlebe oluqhelekileyo kunye nokulahlekelwa kukuva nako kunokubangela ukulibaziseka ekufundeni ukuthetha. |
| Ukuzikhusela komzimba | Inkqubo yomzimba yokuzikhusela iba buthathaka ngenxa yokuncipha kophuhliso lwe-thymus gland. Oku kunokukhokelela kwiintsholongwane ezixhaphakileyo. |
Into ebalulekileyo kukuba kwabanye abantu, ezi mpawu azibalulekanga kangako kwaye azibonakali kangako. Ngoko ke abanye abantu basenokungazi nokuba banale meko de babe ngabantu abadala.
Yintoni ebangele oku? Ingaba le yimpazamo yam?
Xa ufumanisa ukuba umntwana wakho unale meko, omnye wemibuzo yokuqala efika engqondweni yakho ngulo, "Kwenzeke njani oku? Ingaba ndim onoxanduva lwale nto?"
Kukho into ekufuneka uyiqonde ngokucacileyo apha.
Le yimeko yemfuza ngokupheleleyo. Ayibangelwa yinto oyenzileyo, oyityileyo, okanye oyiseleyo ngaphambi okanye ngexesha lokukhulelwa. Nceda ungakhathazeki ngayo okanye uzibeke ityala.
Uninzi lwexesha (malunga nama-90% exesha), le meko ibangelwa lutshintsho olungaqhelekanga lwemfuza. Oko kuthetha ukuba ayizuzwa njengelifa. Kodwa kwiimeko ezimbalwa (malunga ne-10%), umntwana unokuyifumana njengelifa le meko komnye wabazali. Ngamanye amaxesha, abo bazali basenokungabi nazimpawu kwaphela okanye babe neempawu ezincinci kakhulu kwaye basenokungazi nokuba zinjani. Ngoko ke, ukuba kuyimfuneko, ugqirha wakho unokunithumela nobabini ukuze nivavanywe imfuza.
Iphathwa njani?
Okwangoku akukho 'nyango' lufanelekileyo kolu hlobo lwesifo se-chromosome. Ngenxa yokuba olu tshintsho lukho kuyo yonke iseli emzimbeni, alunakulungiswa ngokupheleleyo. Kodwa, okubaluleke kakhulu, kukho unyango kunye neendlela zokulawula phantse zonke iingxaki ezibangelwa koku.
Iimfuno zonyango zaba bantwana zahlukile kumntwana ngamnye. Ke ngoko, ugqirha wakho kunye neqela leengcali baza kusebenzisana ukwenza isicwangciso sonyango esilungiselelwe umntwana wakho. Esi sicwangciso singabandakanya:
- Unyango lwesifo sentliziyo: Ukuba kuyimfuneko, utyando lokulungisa isiphene sentliziyo.
- Unyango lweFiziyoloji: Ukuqinisa nokuqeqesha izihlunu kwimisebenzi efana nokuhamba nokubaleka.
- Unyango lomsebenzi: Ukuphuhlisa izakhono ezintle ezinje ngokubopha imitya yezihlangu nokubhala.
- Unyango lokuthetha: Ukoyisa ubunzima bokuthetha. (Oku kuya kufuneka kuqalwe emva kotyando ukuze kulungiswe i-cleft palate ukuba ikhona).
- Ukuhlolwa rhoqo: Jonga rhoqo ukukhula komntwana, ubunzima bakhe, ubude bakhe, kunye nokuva kwakhe.
- Unyango lwenkqubo yomzimba yokuzikhusela: Ukuba inkqubo yomzimba yokuzikhusela ibuthathaka, unyango oluthile (umz., ukufakelwa umongo wethambo) okanye iingcebiso zokuthintela usulelo.
- Unyango lweengxaki zehomoni: Ukuba amanqanaba e-calcium aphantsi, nika iipilisi ze-calcium kunye ne-vitamin D.
- Inkxaso yempilo yengqondo: Ukunika iingcebiso ngengcinezelo yengqondo enokuthi ichaphazele umntwana kunye nawe.
Ingaba le meko ingenzeka komnye umntwana kusapho?
Le yingxaki enkulu nakubazali.
- Ukuba bobabini abazali abanalo olu tshintsho lwezakhi zofuzo , umngcipheko wokuba omnye umntwana abe nale meko kwixesha elizayo uphantsi kakhulu (malunga ne-1%).
- Nangona kunjalo, ukuba omnye umzali unale nguqu yezakhi zofuzo , umntwana ngamnye ozelweyo usengozini ye-50% yokuyifumana njengelifa.
Ukuba kukho umntu kusapho lwakho onayo le meko okanye unamathandabuzo ngayo, eyona nto ingcono onokuyenza kukubona ugqirha wakho.Thetha nogqirha wakho ngale nto. Emva koko, ukuba kuyimfuneko, umntwana ongekazalwa unokuvavanywa ngale meko ngexesha lokukhulelwa okulandelayo. Uvavanyo olufana ne-`(Chorionic villus sampling)` okanye `(amniocentesis)` lusetyenziselwa oku. Kodwa khumbula, nangona olu vavanyo lunokubonisa ukuba umntwana unotshintsho kwimfuza okanye akunjalo, alunakutsho ukuba iimpawu ziya kuba nzima kangakanani na.
Umyalezo Wokuya Ekhaya
- I-22q11.2 deletion syndrome yimeko yemfuza. Ayibangelwanga yimpazamo yabazali konke konke.
- Iimpawu zahlukile kumntwana ngamnye onesi sifo. Ezinye zinokuba buthathaka kakhulu, ngelixa ezinye zinokuba nzima kakhulu.
- Nangona kungekho nyango lwale meko yemfuza, kukho iindlela eziphambili kakhulu zokulawula nokunyanga zonke iingxaki ezivela kuyo.
- Umntwana usenokufuna inkxaso yeqela lezonyango, njengengcali yentliziyo, ingcali yokuthetha, kunye nengcali yokunyanga umzimba.
- Ukuba le meko iyenzeka kusapho lwakho, kubalulekile ukuthetha nogqirha wakho malunga nonyango lwemfuza ngaphambi kokuba ukhulelwe kwakhona.
- Awuwedwa. Ukuthetha nabanye abazali nabantwana ngolu hlobo nokwabelana ngamava abo kunokuba ngumthombo omkhulu wamandla.
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