Ngezinye izikhathi lapho udokotela esitshela igama lesimo ingane yakho enaso, sizizwa sesaba kakhulu, sishaqekile futhi sididekile . Igama elithi '22q11.2 Deletion Syndrome' lingenye yalezo zinhlobo. Ungesabi, noma ngabe igama lizwakala liyinkimbinkimbi kancane. Ukuqonda lesi simo ngamagama alula kuzoba usizo olukhulu kuwe nakumntanakho. Ake sixoxe ngalokhu kalula, kusukela ekuqaleni.
Okokuqala, ake sibone ukuthi lezi zakhi zofuzo nama-chromosome ziyini.
Kalula nje, imizimba yethu ifana nencwadi enkulu yemiyalelo. Izahluko kule ncwadi yilokho esikubiza ngokuthi 'ama-Chromosomu'. Ngokuvamile, iseli lomuntu linama-chromosome angu-46. I-chromosome ngayinye iqukethe izinkulungwane 'zama-gene', ulwazi olunquma zonke izici zomzimba wethu. Konke kusukela ekuphakameni kwethu kuya embala wesikhumba sethu kuya ekubunjweni kwezinwele zethu kunqunywa yilezi zakhi zofuzo.
I-'22q11.2 deletion syndrome' iyisimo sofuzo. Okwenzekayo lapha ukuthi ingxenye encane kakhulu ye-chromosome 22, kuma-chromosome angu-46 esikhulume ngawo, ilahlekile. Igama lesiNgisi elithi 'deletion' lisho 'deletion' noma 'reduction'. Uma ingxenye ye-chromosome ilahleka ngale ndlela, izakhi zofuzo ezazikuleyo ngxenye nazo ziyalahleka. Yingakho ukusebenza kwezingxenye ezahlukene zomzimba, njengenhliziyo, amasosha omzimba, kanye nobuchopho, kungathinteka.
Ingabe lokhu kufana ne-'DiGeorge Syndrome'?
Yebo, kungenzeka ukuthi wake wezwa igama elithi 'DiGeorge Syndrome'. Empeleni lokhu kungenye yezimpawu zesimo sokususwa kwe-22q11.2. Esikhathini esidlule, ngaphambi kokuba kuthuthukiswe ukuhlolwa kwezakhi zofuzo, odokotela basebenzisa amagama ahlukene kuleli qembu lezimpawu, njenge-'DiGeorge Syndrome'. Kodwa kamuva, ukuhlolwa kwezakhi zofuzo kwathola ukuthi imbangela eyinhloko yalezi zimo eziningi ukulahleka kwengxenye ye-chromosome 22. Ngakho-ke manje zonke zilethwa ngaphansi kwesambulela esifanayo, '22q11.2 deletion syndrome'.
Akuzona zonke izingane ezinalesi simo ezizoba nezimpawu ezifanayo. Ezinye izingane zingase zibe nezimpawu ezimbalwa, kanti ezinye zingase zibe neziningi. Kuya ngenani kanye nohlobo lwezakhi zofuzo ezingekho.
Ngezansi kunezinye zezinkinga ezivame kakhulu ezihlobene nalesi simo.
| Uhlelo/isitho esithintekile | Izinkinga ezingaba khona |
|---|---|
| Inhliziyo | Isifo senhliziyo esizalwa naso. Ezinye zalezi zingaba yingozi empilweni uma zingalungiswa ngokushesha ngokuhlinzwa. |
| Intuthuko Nokuziphatha | Ukubambezeleka kokufunda izinto ezifana nokuhamba nokukhuluma. Izimo ezinjengokukhubazeka kokufunda, i-autism, noma i-ADHD (Attention Deficit Hyperactivity Disorder). |
| Ama-hormone | Izinkinga zokulawula amazinga e-calcium ngenxa yokwehla kokukhula kwezindlala ze-parathyroid. Lokhu kungabangela ukuthuthumela noma ukuxhuzula. |
| Umlomo Nokudla | Ukuba nomlomo oqhekekile noma oqhekekile. Ubunzima bokugwinya kanye nokuphuma koketshezi ekhaleni. |
| Izindlebe Nokuzwa | Ukutheleleka njalo ezindlebeni kanye nokulahlekelwa ukuzwa nakho kungaholela ekubambezelekeni kokufunda ukukhuluma. |
| Ukungavikeleki komzimba | Amasosha omzimba abuthakathaka ngenxa yokuncipha kokukhula kwe-thymus gland. Lokhu kungaholela ekuthelelekeni njalo. |
Into ebalulekile ukuthi kwabanye abantu, lezi zimpawu zincane kakhulu futhi azibonakali. Ngakho-ke abanye abantu bangase bangazi nokuthi banalesi simo baze babe badala.
Yini ebangele lokhu? Ingabe leli yiphutha lami?
Uma uthola ukuthi ingane yakho inalesi simo, omunye wemibuzo yokuqala efika engqondweni yakho uthi, "Kwenzeke kanjani lokhu? Ingabe mina ngingunobangela walokhu?"
Kukhona into okudingeka uyiqonde kahle lapha.
Lesi yisimo esibangelwa ufuzo ngokuphelele. Asibangelwa yinoma yini oyenzile, oyidlile, noma oyiphuzile ngaphambi noma ngesikhathi sokukhulelwa. Sicela ungakhathazeki ngakho noma uzisole.
Esikhathini esiningi (cishe u-90% wesikhathi), lesi simo sibangelwa ushintsho lwezakhi zofuzo olungahleliwe. Lokho kusho ukuthi asizuzwa njengefa. Kodwa ezimweni ezimbalwa (cishe u-10%), ingane ingazuza lesi simo komunye wabazali. Ngezinye izikhathi, labo bazali bangase bangabi nazimpawu nhlobo noma babe nezimpawu ezincane kakhulu futhi bangase bangazi ngisho nakancane ngaso. Ngakho-ke, uma kudingeka, udokotela wakho anganithumela nobabili ukuze niyohlolwa izakhi zofuzo.
Iphathwa kanjani?
Okwamanje akukho 'ikhambi' elilodwa elifanela wonke umuntu lalolu hlobo lwesifo se-chromosome. Ngenxa yokuthi lolu shintsho lukhona kuwo wonke amaseli emzimbeni, alukwazi ukulungiswa ngokuphelele. Kodwa, okubaluleke kakhulu, kunezindlela zokwelapha kanye nezindlela zokuphatha cishe zonke izinkinga ezibangelwa yilokhu.
Izidingo zokwelapha zalezi zingane zihlukile kumntwana ngamunye. Ngakho-ke, udokotela wakho kanye nethimba lochwepheshe bazosebenzisana ukudala uhlelo lokwelapha olufanela ingane yakho. Lolu hlelo lungafaka:
- Ukwelashwa kwesifo senhliziyo: Uma kudingeka, ukuhlinzwa ukuze kulungiswe inkinga yenhliziyo.
- Ukwelapha ngokuzivocavoca umzimba: Ukuqinisa nokuqeqesha imisipha yemisebenzi efana nokuhamba nokugijima.
- Ukwelashwa Komsebenzi: Ukuthuthukisa amakhono amahle njengokubopha izintambo zezicathulo nokubhala.
- Ukwelashwa ngenkulumo: Ukunqoba ubunzima bokukhuluma. (Lokhu kuzodingeka kuqalwe ngemva kokuhlinzwa ukuze kulungiswe ulwelwesi oluqhekekile uma lukhona).
- Ukuhlolwa njalo: Hlola njalo ukukhula kwengane, isisindo sayo, ukuphakama kwayo kanye nokuzwa kwayo.
- Ukwelashwa kwesimiso sokuzivikela komzimba: Uma isimiso sokuzivikela somzimba sibuthakathaka, ukwelashwa okuqondile (isib. ukufakelwa umnkantsha) noma iseluleko sokuvimbela ukutheleleka.
- Ukwelashwa kwezinkinga zamahomoni: Uma amazinga e-calcium ephansi, nikeza amaphilisi e-calcium ne-vitamin D.
- Ukusekelwa kwempilo yengqondo: Ukwelulekwa ngokucindezeleka kwengqondo okungase kuthinte ingane kanye nawe.
Ingabe lesi simo singavela komunye umntwana emndenini?
Lokhu futhi kuyinkinga enkulu kubazali.
- Uma bobabili abazali bengenalo lolu hlobo lofuzo , ingozi yokuthi omunye umntwana abe nalesi simo esikhathini esizayo iphansi kakhulu (cishe i-1%).
- Kodwa-ke, uma umzali oyedwa enalolu hlobo lwezakhi zofuzo , ingane ngayinye ezalwayo isengozini engu-50% yokuluthola njengefa.
Uma othile emndenini wakho enalesi simo noma unemibuzo ngaso, into engcono kakhulu ongayenza ukubona udokotela wakho.Ukukhuluma ngalokhu nodokotela wakho. Ngemuva kwalokho, uma kudingeka, ingane engakazalwa ingahlolwa lesi simo ngesikhathi sokukhulelwa okulandelayo. Ukuhlolwa okufana ne-`(Chorionic villus sampling)` noma `(amniocentesis)` kuyasetshenziswa kulokhu. Kodwa khumbula, yize lokhu kuhlolwa kungasho ukuthi ingane inoshintsho lwezakhi zofuzo noma cha, akukwazi ukusho ukuthi izimpawu zizoba zimbi kangakanani.
Umlayezo Wokuya Nawe Ekhaya
- I-22q11.2 deletion syndrome iyisimo sofuzo. Akubangelwa yiphutha labazali nhlobo.
- Izimpawu ziyahlukahluka kuzo zonke izingane ezinalesi simo. Ezinye zingase zibe zincane kakhulu, kanti ezinye zingase zibe zimbi kakhulu.
- Nakuba kungekho ikhambi lalesi simo sofuzo, kunezindlela ezithuthuke kakhulu zokuphatha nokwelapha zonke izinkinga ezivela kuso.
- Ingane ingadinga ukwesekwa yithimba lezokwelapha, njengodokotela wenhliziyo, uchwepheshe wezokukhuluma, kanye nochwepheshe wezokuzivocavoca.
- Uma lesi simo singena emndenini wakho, kubalulekile ukukhuluma nodokotela wakho mayelana nokwelulekwa ngofuzo ngaphambi kokukhulelwa kwakho okulandelayo.
- Awuwedwa. Ukukhuluma nabanye abazali nezingane kanje nokwabelana ngolwazi lwabo kungaba umthombo omkhulu wamandla.
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