Ingabe ingane yakho yayikhathele kakhulu, ingenampilo, futhi yayinenkinga yokuncelisa lapho izalwa? Kodwa lapho isikhulile kancane, cishe ineminyaka emibili noma emithathu, ingabe yaqala ukubonisa isifiso sokudla esingavamile kanye nokuntuleka kwesifiso sokudla? Ungase ukhathazeke futhi wesabe kancane ngalezi zinguquko. Namuhla sikhuluma ngesimo esingavamile sofuzo esibonisa lezi zimpawu, abantu abaningi ezweni lethu abangakaze bezwe ngaso, kodwa okubaluleke kakhulu ukwazi ngaso. Leso yi-Prader-Willi Syndrome.
Iyini i-Prader-Willi Syndrome (PWS)?
Kalula nje, i-Prader-Willi syndrome (PWS) iyisimo esingavamile sofuzo esiba khona kusukela ekuzalweni. Sithinta indlela umzimba wengane osebenza ngayo, inqubo lapho ukudla esikudlayo kuguqulwa khona kube amandla. Siphinde sithinte ukukhula nokuziphatha kwengane.
Izigaba ezimbili eziyinhloko zingabonakala kulesi simo.
1. Ubuntwana Obuncane: Imisipha yengane ayiphili noma inemisipha ephansi kakhulu. Lokhu kwenza kube nzima kakhulu ukuncela. Ingane ingase ilale futhi ikhathale.
2. Ubuntwana: Phakathi kweminyaka engu-2 nengu-6, kwenzeka into ehluke ngokuphelele. Okusho ukuthi, ingane iba nesifiso sokudla esingalawuleki nesingaphezu kwamandla. Kungakhathaliseki ukuthi idla kangakanani, ayizizwa igcwele. Uma lokhu kudla ngokweqile kungalawulwa, ingane ingaba nkulu kakhulu.
Ngaphezu kwalezi zimpawu eziyinhloko, ingane ingase iphuthelwe yizigaba zokukhula ezifanele iminyaka, njengokukhasa, ukuhamba, nokukhuluma. Ukuthomba nakho kungase kubambezeleke. Uma kungaphathwa kahle, ukukhuluphala kungaholela ezinkingeni ezisongela ukuphila njengesifo senhliziyo, isifo sikashukela, kanye nokuphefumula kokulala.
Ubani othola lesi simo? Sivame kangakanani?
Lesi yisimo sofuzo esingathinta noma ubani. Sivame ukubangelwa ushintsho olungahleliwe lwezakhi zofuzo olwenzeka lapho kwakheka amangqamuzana egciwane likamama nobaba. Lokhu kusho ukuthi akubangelwa yiphutha labazali. Akuvamile kakhulu, uma othile emndenini eke waba nalesi simo, kunethuba elincane lokuthi sizodluliselwa ezizukulwaneni ngezizukulwane.
Kuvamile kakhulu ukuthi i-Prader-Willi syndrome ithinta cishe umuntu oyedwa kwabayi-10,000 kuya kwabayi-30,000 emhlabeni jikelele. Lokhu kusho ukuthi yisimo esingavamile kakhulu.
Ziyini izimpawu ze-Prader-Willi syndrome?
Lezi zimpawu zingahluka kumuntu nomuntu, kodwa kunezinye izimpawu ezivamile. Ake sizihlukanise ngale ndlela ukuze zicace.
| Uhlobo oluyisici | Izinto ezivame ukubonwa |
|---|---|
| Izici zobuntwana (Ubuntwana) |
|
| Izici ezihlobene nokubukeka komzimba | |
| Izici zokuziphatha kanye nentuthuko |
Into ebaluleke kakhulu okufanele uyikhumbule lapha ukuthi ukukhuluphala ngokweqile, okubangelwa yi-`(Hyperphagia)`, kungaholela kwezinye izifo eziningi ezimbi njengesifo sikashukela nesifo senhliziyo.
Kungani lesi simo senzeka? Iyini imbangela yofuzo?
Lokhu kuyinkimbinkimbi kancane, kodwa ake sizame ukukuqonda kalula.
Iseli ngalinye lethu liqukethe iphakheji yolwazi lwezakhi zofuzo. Sibiza lawa ma-chromosome ngokuthi. Sithola angu-23 kulawa ma-chromosome kumama wethu kanye nangu-23 kubaba wethu. I-Prader-Willi syndrome ibangelwa inkinga engxenyeni ye-chromosome 15 esiyithola kubaba wethu.
Kwenzeka okuthile okukhethekile lapha. Kubizwa ngokuthi `(genomic imprinting)`. Kalula nje, kwezinye izakhi zofuzo ku-chromosome 15, ikhophi evela kubaba iyavulwa 'ivuliwe', kanti ikhophi evela kumama iyavulwa 'ivaliwe'. Lokhu 'kuvuliwe', okungukuthi, ikhophi esebenzayo evela kubaba ibalulekile ukuze umzimba usebenze kahle . Ku-PWS, le khophi esebenzayo evela kubaba ilahlekelwa umsebenzi wayo.
Kungaba nezizathu ezintathu eziyinhloko zalokhu.
| Imbangela yofuzo | Kuchazwe kalula |
|---|---|
| Ukususwa kwe-Chromosome | Lokhu kuyimbangela yeziguli ezingama-70% ze-PWS. Kulesi simo, ingxenye encane ye-chromosome 15, ezuzwe njengefa kubaba, iyasuswa. Ngakho-ke, izakhi zofuzo ezidingekayo azisebenzi. |
| I-disomy yomzali engabazali | Lokhu kuyimbangela yamacala e-PWS angaba ngu-25%. Okwenzekayo ukuthi ingane ayitholi i-chromosome 15 kuyise, kodwa ithola amakhophi amabili e-chromosome 15 kunina. Njengoba izakhi zofuzo ezifanele kuzo zombili izikhophi ezivela kunina 'zivaliwe', azikho izakhi zofuzo ezisebenzayo ezilahlekile. |
| Ukuthutha | Lokhu akuvamile kakhulu (ngaphansi kuka-1%). Kulesi simo, ingxenye ye-chromosome 15 iyaphuka bese inamathela kwenye i-chromosome. Ngenxa yalokho, lawo ma-gene awakwazi ukusebenza kahle. |
Udokotela usithola kanjani lesi sifo?
Uma uya kudokotela ngoba ukhathazekile ngezimpawu zengane yakho, into yokuqala azokwenza ukuhlola ingane yakho ngokomzimba. Uzobheka ngokucophelela ukubukeka kwengane yakho, ithoni yemisipha, kanye nokuziphatha kwayo. Uzophinde akubuze ngemikhuba yokudla yengane yakho kanye nokubambezeleka kokukhula kwayo.
Uma udokotela esola i-PWS ngokusekelwe kulezi zimpawu, uzoyala ukuhlolwa kofuzo ukuze kuqinisekiswe lokho.Lokhu kuvame ukwenziwa ngokuthatha isampula yegazi enganeni bese kutholakala izinguquko ku-DNA ekuyo .
Ilashwa kanjani? Ingabe akunakwenzeka yini ukuyelapha ngokuphelele?
Eqinisweni, alikho ikhambi le-Prader-Willi syndrome okwamanje. Kodwa ungakhathazeki. Kunezindlela eziningi zokwelapha ezingasiza ekulawuleni izimpawu, ukuvimbela izinkinga, nokusiza ingane yakho iphile impilo enhle. Imigomo eyinhloko yokwelashwa yile:
- Ukuphathwa kokudla okunempilo: Amadivayisi akhethekile njenge-nipples yebhodlela angasetshenziswa ukusiza ingane yakho ukuthi iphuze ubisi ngesikhathi isencane. Njengoba ingane yakho ikhula, kubalulekile ukunikeza ukudla okunama-calorie aphansi nokulinganiselayo nokulawula ngokuqinile inani lokudla ekudlayo. Ngezinye izikhathi, kungadingeka ngisho nokukhiya izinto ezifana namakhabethe neziqandisi ekhaya.
- Ukwelashwa ngama-hormone: I-hormone yokukhula inikezwa ukusiza ingane ikhule. Njengoba ukuthomba kuqhubeka, abafana kungadingeka banikezwe i-testosterone kanti amantombazane angadinga i-estrogen.
- Izindlela Zokwelapha Ezisekelayo:
- Ukwelashwa ngokomzimba: Kusiza ukuqinisa imisipha nokuthuthukisa ibhalansi.
- Ukwelashwa ngolimi lokukhuluma: Kusiza ekunqobeni ubunzima bokukhuluma.
- Imfundo ekhethekile: Inikeza ukwesekwa kwemisebenzi yokufunda eyenzelwe amakhono engqondo yengane.
Liyoba njani ikusasa uma ingane yami ine-PWS?
Kujwayelekile ukuthi abazali bazizwe bethukile futhi besaba lapho bezwa ngalesi simo. Kodwa khumbula, ngokuxilongwa kusenesikhathi kanye nokwelashwa okuqhubekayo nokusekelwa, izingane ezine-PWS zingaphila impilo evamile.
Yebo, kunezinselele. Bazodinga usizo olwengeziwe ngomsebenzi wesikole. Bazodinga ukwesekwa okuthile kukho konke ukuphila kwabo. Kodwa bangasizwa futhi ukuba bazimele ngangokunokwenzeka futhi basebenzise amakhono abo ngokugcwele.
Kubalulekile ukuhlangana nochwepheshe wezokudla ukuze wakhe uhlelo lokudla olufanele ingane yakho, futhi ucele iseluleko kumeluleki wezempilo yengqondo . Futhi, ukujoyina amaqembu okusekelana nabanye abazali abanokuhlangenwe nakho okufanayo nokwakho kuzoba umthombo omkhulu wamandla.
Yimiphi imibuzo okufanele uyibuze udokotela?
Uma uya kudokotela, ungakhohlwa ukubuza le mibuzo.
- Yini okufanele ngiyenze ukuze ngivimbele ingane yami ukuthi ingabi nokukhuluphala ngokweqile?
- Yikuphi ukwelashwa ingane edingayo? Kunikezwa kanjani?
- Yiziphi izinkinga zokuziphatha engingazilindela enganeni yami?
- Ingabe akhona amaqembu okusekelana esingawafinyelela ukuze asisize siphile nalesi simo?
- Ingabe wonke umndeni wami udinga ukuhlolwa kofuzo?
Kuvamile ukuzizwa ukhungathekile uma uthola ukuthi ingane yakho inesifo esingavamile nesingelapheki. Kodwa awuwedwa. Ithimba lezokwelapha lengane yakho lizokunikeza ukwesekwa nesiqondiso osidingayo. Ingane yakho ingase idinge isikhathi esithe xaxa nosizo kunezinye izingane. Kodwa ngokuphathwa okufanele, ingane yakho nayo ingajabula.
Umlayezo Wokuya Nawe Ekhaya
- I-Prader-Willi syndrome (PWS) yisimo sofuzo esenzeka ngokungahleliwe futhi esingabangelwa yinoma yiliphi iphutha labazali.
- Izimpawu zokuqala zifaka phakathi ubuthakathaka bemisipha kanye nobunzima bokuncelisa. Kamuva, kuba nokudla okungalawuleki.
- Inselele enkulu ebhekene nalesi simo ukulawula ukudla nokuvimbela ukukhuluphala kanye nezinkinga ezihambisana nakho.
- Nakuba kungekho ikhambi eliphelele lalokhu, ukuphathwa kahle, ukwelashwa, kanye nokusekelwa kukho konke ukuphila kungasiza ingane ukuba iphile impilo egcwele.
- Uma unenkinga mayelana nokukhula noma ukuziphatha kwengane yakho, khuluma nodokotela wakho ngokushesha. Ukutholwa kusenesikhathi kubalulekile ukuze ukwelashwa kuphumelele.
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