Ngiyaqonda ukuthi uzizwa udabuke kangakanani, ushaqekile, futhi ungenalusizo uma uthola ukuthi ingane yakho inesifo esingavamile esibizwa ngokuthi i-Wolf-Hirschhorn syndrome. Ungase ube nemibuzo eminingi engqondweni yakho ngokuzumayo, njengokuthi, 'Kungani lokhu kwenzeke enganeni yami?', 'Kwenzeke kanjani lokhu?', 'Ngenzenjani manje?' Ungacabangi ukuthi uwedwa ngalesi sikhathi. Ake sixoxe ngakho konke ngokucacile nangokulula.
Iyini ngempela i-Wolf-Hirschhorn Syndrome?
Kalula nje, i-Wolf-Hirschhorn syndrome iyisimo esingavamile kakhulu sofuzo umntwana azalwa naso. Ibizwa nangokuthi `(4p- syndrome)`. Amaseli omzimba wethu anento ebizwa ngokuthi ama-chromosome . Cabanga ngalezi zincwadi njengezincwadi eziqukethe uhlelo oluphelele lwendlela umzimba wethu okufanele wakhiwe ngayo. Kunama-chromosome angu-46, ngamabili angu-23.
Ku-Wolf-Hirschhorn syndrome, ingxenye encane kakhulu ye-chromosome 4 ayikho. Kufana nengxenye encane yekhasi ku-planner ekhishwa ekhoneni. Ngisho nengxenye encane ye-chromosome ingaphazamisa ukukhula okuvamile kwengane. Uhlobo kanye nobunzima bezimpawu kuyahlukahluka kuye ngengane, kuye ngobukhulu bengxenye engekho.
Iyini imbangela yalesi simo? Ingabe leli yiphutha labazali?
Lona umbuzo abazali abaningi abawubuzayo. Into ebaluleke kakhulu okudingeka uyiqonde kahle lapha ukuthi isikhathi esiningi, lokhu akuyona into evela kubazali, futhi akuyona into abazali abanephutha ngayo.
Lokhu kuqhekeka kwama-chromosome kuvame ukwenzeka njengesenzakalo esingahleliwe ngesikhathi sokuhlukaniswa kwamaseli ngemva kokuba umntwana ekhulelwe esibelethweni. Odokotela abasazi kahle ukuthi kungani kwenzeka lolu shintsho olusheshayo lwezakhi zofuzo.
Kodwa-ke, ezimweni ezingavamile kakhulu, lesi simo singazuzwa njengefa komunye wabazali. Lokhu kubizwa ngokuthi 'i-balanced translocation' . Lokhu kusho ukuthi ama-chromosome amabili noma ngaphezulu kumama noma kubaba aphuke futhi ashintsha izindawo ngesikhathi sokukhula kwawo. Kodwa ngenxa yokuthi alinganisele, umama noma ubaba akabonisi zimpawu. Kodwa-ke, uma umuntu onjalo enengane, kunethuba elikhulu lokuthi i-chromosome engalinganisele izodluliselwa enganeni. Uma ufuna, ungenza ukuhlolwa kofuzo ukuze ubone ukuthi wena noma umlingani wakho ninesimo 'se-balanced translocation'. Khuluma nodokotela wakho ukuze uthole ulwazi olwengeziwe ngalokhu.
Yiziphi izimpawu ezingabonakala enganeni?
I-Wolf-Hirschhorn syndrome ingathinta izingxenye eziningi zomzimba. Yingakho kunezimpawu eziningi. Akuzona zonke izingane ezizoba nazo zonke lezi zimpawu. Izimpawu eziyinhloko ukubukeka kobuso okuhlukile, ukubambezeleka kokukhula, ukukhubazeka kwengqondo, kanye nokuxhuzula.
Ake sibheke lezi zimpawu ngokucacile etafuleni.
| Umkhakha othintekile | Izici ezivamile zibonwe |
|---|---|
| Izici zobuso |
|
| Ukukhula nomzimba | |
| Uhlelo lwezinzwa kanye nobuhlakani | |
| Izitho zangaphakathi |
Ungasithola kanjani lesi simo?
Ngezinye izikhathi, udokotela wakho angase asole lesi simo ngokusekelwe ezicini ezithile zomzimba wengane yakho ezibonwe ngesikhathi sokuhlolwa kwakho okuvamile kwe-ultrasound ngesikhathi sokukhulelwa. Futhi, ezinye izivivinyo zegazi ezikhethekile (ukuhlolwa kwe-DNA okungenamaseli) ezitholakalayo manje zinganikeza izinkomba mayelana nezinkinga ze-chromosome.
Kodwa khumbula, lokhu kumane nje kuwukuhlolwa. Akuqiniseki ngokuphelele ukuthi ingane inalesi simo ngenxa nje yokuthi kukhona okuyibonayo.
Ukuqinisekisa ukuxilongwa okunembile, kudingeka ukuhlolwa kofuzo okuqondile. Phakathi kwazo, okubaluleke kakhulu ukuhlolwa kwe -`fluorescence in situ hybridization (FISH)` . Lokhu kungabona ukulahleka kwengxenye ye-chromosome yesine ngokunemba okungaphezu kuka-95%. Lokhu kuhlolwa kungenziwa ngaphambi noma ngemva kokuzalwa komntwana.
Uma ingane yakho iqinisekisiwe ukuthi ine-Wolf-Hirschhorn syndrome, udokotela wakho cishe uzoncoma ukuhlolwa okwengeziwe, njengokuskena, ukuze kutholakale ukuthi yiziphi ezinye izindawo zomzimba ezithintekile.
Iphathwa kanjani?
Ungase uzizwe udangele ukuzwa lokhu, kodwa iqiniso liwukuthi akukho ukwelashwa okutholakale okungayelapha ngokuphelele isimo sikaWolf-Hirschhorn.
Kodwa lokho akusho ukuthi akukho esingakwenza. Umgomo oyinhloko wokwelashwa ukulawula izimpawu zengane nokuyisiza iphile impilo engcono kakhulu.
Ngenxa yokuthi ingane ngayinye ihlukile, uhlelo lokwelashwa luzohluka kusuka kwengane eyodwa kuya kwenye. Ngokuvamile, lolu hlelo lokwelashwa luzofaka okulandelayo:
| Indlela yokwelapha | Inhloso |
|---|---|
| Ukwelashwa Komzimba Nokwelashwa Komsebenzi | Ukuqinisa imisipha, ukwandisa ukuhamba, nokuyiqeqesha ukuba yenze imisebenzi yansuku zonke ngokuzimela. |
| Ukwelashwa Ngezidakamizwa | Ukunikeza imithi, ikakhulukazi ukulawula ukuxhuzula. |
| Ukuhlinzwa | Ukulungiswa kokuhlinzwa kweziphambeko zokuzalwa ezifana nokukhubazeka kwenhliziyo noma kobuchopho. |
| Imfundo Ekhethekile | Ukuhlinzeka ngemfundo efanela ikhono lokufunda lengane. |
| Ukwelulekwa Ngezakhi Zofuzo | Ukunikeza amalungu omndeni ukuqonda lesi simo nokukhuluma ngezingozi ezihilelekile ekukhuliseni izingane esikhathini esizayo. |
Ukunakekela lo mntwana kuwumzamo omkhulu weqembu. Kudinga usizo lwabantu abaningi, okuhlanganisa odokotela bezingane, abelaphi bomzimba, kanye nabelaphi bokukhuluma.
Umlayezo Wokuya Nawe Ekhaya
- I-Wolf-Hirschhorn syndrome iyisifo esingavamile esibangelwa izakhi zofuzo. Ngokuvamile sibangelwa kungengenxa yephutha labazali.
- Izimpawu kanye nobukhali bengane ngayinye kuyahluka.
- Nakuba lesi simo singelapheki ngokuphelele, kunezindlela eziningi zokwelapha ezitholakalayo zokulawula izimpawu nokunikeza ingane impilo engcono.
- Kulokhu, ukusekelwa kwethimba lodokotela nabelaphi kubalulekile.
- Ukunakekela ingane enjengalena kuyinselele. Njengomzali, kubalulekile ukuthi unakekele impilo yakho yengqondo futhi uthole ukwesekwa okudingayo.
- Uma unemibuzo noma ukukhathazeka ngesimo sengane yakho, khuluma nodokotela wakho ngokukhululekile.
💬 Comments (0)
Awekho amazwana athunyelwe okwamanje. Faka amazwana akho lapha okokuqala ngqa.
Engeza amazwana akho