Ingabe ingane yakho encane inalezi zimpawu? Ake sixoxe nge-Prader-Willi Syndrome

Kungenzeka ukuthi uke waba nokukhathazeka ngokukhula nokukhula kwengane yakho, noma ngendlela edla futhi ephuza ngayo. Ezinye izingane zidinga ukunakekelwa okukhethekile. Namuhla, sizokhuluma ngesimo esingavamile kodwa esibalulekile okufanele usiqaphele.

Iyini i-Prader-Willi Syndrome?

Kalula nje, i-Prader-Willi Syndrome (PWS) yisimo esingavamile sofuzo esithinta i-metabolism yengane. Singabangela izinguquko ekukhuleni nasekuziphatheni kwengane.

Ingane encane enalesi simo ayinawo umsindo wemisipha (hypotonia). Lokhu kusho ukuthi umzimba ungase uzizwe ubuthakathaka kakhulu. Kungaba nzima ukuncela nokudla ukudla ekuqaleni. Kodwa-ke, phakathi kweminyaka emibili neyisithupha, kuqala ukukhula isifiso sokudla esingavamile, noma indlala engapheli (hyperphagia). Uma ukudla kungalawulwa kahle, lokhu kudla ngokweqile kungaholela ekutheni ingane ibe nkulu kakhulu, noma ikhuluphale kakhulu.

Ngaphezu kwalokho, i-PWS ingabangela ingane ukuthi iphuthelwe yizinyathelo ezijwayelekile zokukhula futhi ilibazise ukuthomba. Akuvamile ukuthi kube nezinkinga ezisongela impilo, njengezinkinga zokuphefumula, izinkinga zenhliziyo ezibangelwa ukukhuluphala, i-sleep apnea, kanye nesifo sikashukela.

Ubani othinteka kakhulu yilesi simo?

Empeleni, lesi simo esibizwa ngokuthi i-Prader-Willi syndrome singenzeka kunoma ubani. Ngenxa yokuthi sibangelwa izakhi zofuzo, sivame ukwenzeka ngokungahleliwe, okusho ukuthi senzeka ngaphandle kwesizathu lapho kwakheka amangqamuzana egciwane. Akuvamile kakhulu, singazuzwa njengefa uma othile emndenini wake waba nalesi simo ngaphambili.

Ivame kangakanani i-Prader-Willi Syndrome?

Lesi yisimo esingavamile kakhulu. Uma ubheka emhlabeni wonke, cishe singu-1 kwabayi-10,000 kuya ku-1 kwabayi-30,000. Ngakho-ke, ungacabanga ukuthi lokhu kuyivelakancane kangakanani.

Ziyini izimpawu ze-Prader-Willi Syndrome?

Indlela i-PWS ethinta ngayo umuntu ngamunye ingahluka, kodwa kunezimpawu ezithile ezivamile.

Izimpawu ezibonakala ngesikhathi sokukhulelwa:

Ezinye zalezi zimpawu zingabonakala ngokushesha nje lapho umntwana ezalwa:

• Ukukhala okubuthakathaka .
• Ukukhathala okuqhubekayo kanye nokuzola.
• Ubunzima bokuncela nokudla (Amandla okuphakela aphansi).
• Umzimba obuthakathaka , noma ukuntuleka kwemisipha (`hypotonia`). Kungase kuzwakale sengathi umzimba wakho ugobile njengonodoli.

Izici zomzimba ezibonakala njengoba ingane ikhula:

Lezi zici ngezinye izikhathi zikhona lapho umntwana ezalwa, kodwa zibonakala kakhulu njengoba umntwana ekhula:

• Amehlo anomumo we-almond.
• Ikhanda elide, elincane.
• Umlomo ongunxantathu.
• Ukuba mfushane kancane kunezinye izingane (ubude obufushane).
• Izandla nezinyawo ezincane.
• Izitho zangasese ezingakakhuli kahle.

Izici ezithinta intuthuko nokuziphatha kwengane:

Lezi yizici abazali abazizwa kakhulu ngezinye izikhathi, futhi kungaba yinselele kancane:

• Ukucasuka , ukuqhuma ngokomzwelo noma inkani.
• Ukukhubazeka kwengqondo: Lokhu kusho ukuthi kuthatha isikhathi ukufunda nokuqonda izinto ezintsha.
• Ukuziphatha okuphoqayo noma okuphoqelelayo njengokukha isikhumba .
• Ukuphazamiseka kokulala. Ngezinye izikhathi uzizwa ulele kakhulu emini, kanti ebusuku, kuzwakala sengathi awukwazi ukulala.
• Izinkinga zokudla. Lolu uphawu oluvelele kakhulu. Kungakhathaliseki ukuthi udla kangakanani, awuzizwa usuthi. Lokhu kuholela ekudleni ngokweqile (hyperphagia).

Cabanga ukuthi kungaba nzima kangakanani ukube ingane yakho, kungakhathaliseki ukuthi idle kangakanani, iqhubeka ithi, "Ngifuna okwengeziwe, ngilambile." Lokhu kudla ngokweqile kungaholela ekukhuluphaleni kwesigaba sesi-3, okungandisa ingozi yokuthola ezinye izinkinga, njengesifo sikashukela nesifo senhliziyo.

Iyini imbangela yalokhu? Kungani lokhu kwenzeka?

I-Prader-Willi syndrome ibangelwa ushintsho ezizakhini zethu zofuzo. Ngokukhethekile, ezinye izakhi zofuzo eziku- chromosome 15 emizimbeni yethu azisebenzi kahle.

Sonke sithola ikhophi eyodwa ye-chromosome 15 kumama wethu ngesikhathi sokukhulelwa, kanye nekhophi eyodwa kubaba wethu. Ngokuvamile, izakhi zofuzo ezikukhophi ye-chromosome 15 kubaba wethu ziyavuselelwa, okungukuthi, "zivuliwe." Izakhi zofuzo ezikukhophi ye-chromosome 15 kumama wethu "azikho," okungukuthi, azithuli. Lokhu sikubiza ngokuthi 'ukushicilelwa kwezakhi zofuzo.' Kodwa-ke, womabili amakhophi ayadingeka ukuze izakhi zofuzo emizimbeni yethu zisebenze kahle.

Manje, isimo esithi `PWS` singabangelwa izinguquko eziningana kule chromosome 15:

• Ukususwa kwama-chromosome : Cishe kuma-70% eziguli ze-PWS, ingxenye yama-chromosome angu-15 azuzwe njengefa kubaba ayikho eseli ngalinye. Ngakho-ke, izimpawu zenzeka ngoba izakhi zofuzo ezivela kubaba azisebenzi kahle futhi izakhi zofuzo ezivela kumama azikhulumi.
• I-disomy yomama engabazali: Cishe u-25% wesikhathi, ingane izuza amakhophi amabili e-chromosome 15 kunina futhi ayikho kuyise. Kulesi simo, womabili amakhophi e-chromosome 15 awakhulumi, ngakho-ke izakhi zofuzo azisebenzi kahle.
• Ukudluliselwa: Ezimweni ezingaphansi kwe-1%, ingxenye ye-chromosome 15 iyaphuka bese inamathela kwenye i-chromosome. Ngemuva kwalokho, izakhi zofuzo azikho lapho kufanele zibe khona, ngakho azenzi umsebenzi okufanele zenziwe.

Kalula nje, le chromosome 15 yiyo enikeza imiyalelo yokwenza izinto ezibizwa ngokuthi `ama-RNA amancane e-nucleolar (ama-snoRNA)` asiza amangqamuzana ethu ukwenza izinto ezahlukene. Lawa `ama-snoRNA` alawula amanye ama-molecule e-`RNA`. Ama-molecule e-`RNA` enza amaprotheni, futhi lawo maprotheni enza umsebenzi omningi emaseli. Ngakho-ke, uma kunenkinga nge-chromosome 15, yonke le nqubo iyaphambuka.

Odokotela bakuthola kanjani lokhu? (Ukuxilongwa)

Udokotela uxilonga i-Prader-Willi syndrome ngokuhlola ingane ngokucophelela nokwenza izivivinyo zofuzo. Udokotela uzobheka izici zomzimba zengane bese ekubuza imibuzo mayelana nezimpawu zengane yakho, imikhuba yokudla kanye nokuziphatha kwayo.

Uma kukhona okusolakala nge-PWS, kuzokwenziwa ukuhlolwa kofuzo . Lokhu kuvame ukuba ukuhlolwa kwegazi. Lokhu kunganquma ngokunembile ukuthi kukhona yini ukuphazamiseka ku-DNA yengane, okungukuthi, izinguquko ku-genes.

Yiziphi izindlela zokwelapha lokhu?

Lapho welapha i-Prader-Willi syndrome, ukugxila okuyinhloko ukulawula izimpawu nokuvimbela izinkinga. Akukho ukwelashwa okukodwa kwalokhu, kodwa kusetshenziswa inhlanganisela yezindlela zokwelapha.

Izindlela zokwelapha:

• Kubantwana abancane, ungasebenzisa amadivayisi akhethekile njenge- nipples ekhethekile yamabhodlela ukuze ubasize baphuze ubisi . Ngenxa yokuthi banenkinga yokumunca, badinga ukuthola ukudla okunomsoco abakudingayo.
• Into ebaluleke kakhulu ukusiza ingane yakho idle kahle . Lokhu kusho ukuyipha ukudla okunama-calorie aphansi nokulawula inani elidlayo. Lokhu kungaba yinselele kancane, njengoba ingane yakho ivame ukuzizwa ilambile.
• Imithi inikezwa ukwandisa ama-hormone athile . Isibonelo, i-growth hormone. Kwabafana, i-testosterone noma i-human chorionic gonadotropin (HCG) inganikezwa, kanti kwamantombazane, i-estrogen.
• Izindlela zokwelapha ezisekelayo zibaluleke kakhulu. Ukwelashwa ngokomzimba kusiza ukuqinisa imisipha, ukwelashwa ngolimi lokukhuluma kusiza ukuthuthukisa inkulumo, kanti imfundo ekhethekile isiza ukuthuthukisa amakhono okufunda engane.

Yiziphi imiphumela emibi ye-Prader-Willi Syndrome?

Ngokuvamile, izingane ezinalesi simo ziyakhuluphala ngenxa yokudla ngokweqile. Lokhu kukhuluphala kungaholela kwezinye izinkinga:

• Izinkinga zenhliziyo.
• Isifo Sikashukela (Isifo Sikashukela Sohlobo 2).
• Umfutho wegazi ophezulu (i-Hypertension).
• Izinkinga zokuphefumula.
• Ukuphefumula komoya.

Nakuba ukukhuluphala kuyisimo esiyinkimbinkimbi, singalawulwa. Udokotela wengane yakho uzokwazi ukukunikeza isiqondiso esihle kulokhu.

Singakuvimbela lokhu?

Ngeshwa, i-Prader-Willi syndrome ayinakuvinjelwa . Ibangelwa izakhi zofuzo. Esikhathini esiningi, ibangelwa ukuguquka kwezakhi zofuzo okungahleliwe. Akubikezeleki. Ayibangelwa yinoma yini abazali abayenzile ngaphambi noma ngesikhathi sokukhulelwa.

Uma uhlela ukuba nomunye umntwana, noma uma ufuna ukufunda okwengeziwe ngalokhu, kuwumqondo omuhle ukuthola ukwelulekwa ngofuzo. Ngemuva kwalokho, ungakhuluma ngengozi yokuba nomntwana onalesi simo sofuzo.

Yini okufanele ngiyilindele uma ingane yami ine-Prader-Willi Syndrome?

Lokhu kungakwenza uzizwe udabuke kakhulu futhi ushaqekile. Lokho kujwayelekile. Kodwa-ke, ngokwelashwa okufanele kusukela ekuqaleni kanye nokunakekelwa okuhle okuqhubekayo , izingane eziningi ezine-Prader-Willi syndrome zingaphila impilo evamile.

Kuvamile ukudinga usizo olwengeziwe ngomsebenzi wesikole. Bonke abantwana abane-PWS bazodinga ukwesekwa kukho konke ukuphila kwabo ukuze baphile ngokuzimela ngangokunokwenzeka. Udokotela wakho angakuthumela kuchwepheshe wezokudla. Bangakusiza ukuphatha ukudla kwengane yakho futhi bakhe uhlelo lokudla. Kuyasiza futhi kubazali nemindeni ukubona umeluleki wezempilo yengqondo noma ukujoyina iqembu lokusekela imindeni enezingane ezinalesi simo. Lokhu kungakusiza ufunde izindlela ezintsha zokubhekana nokusekela ingane yakho.

Ingabe ikhona ikhambi eliphelele lalokhu?

Cha, okwamanje alikho ikhambi le-Prader-Willi syndrome. Kodwa-ke, ucwaningo luyaqhubeka ukuze kuqondwe kabanzi ngalesi simo.

Ngingayibona nini udokotela?

Uma ucabanga ukuthi ingane yakho inezimpawu ze-Prader-Willi syndrome, bona udokotela wengane yakho ngokushesha . Ungakushayi indiva noma yikuphi ukulibaziseka kokukhula (izinyathelo zokukhula ezingabanjwanga) ngesikhathi isencane. Uma lesi simo sibonakala kusenesikhathi, udokotela wakho angasiza ekuphatheni isimo sengane yakho, ayisize ifinyelele izigaba zokukhula, futhi anciphise izinkinga ngokulawula ukudla kwayo.

Yimiphi imibuzo okufanele ngiyibuze udokotela?

Uma uya kudokotela, kuwumqondo omuhle ukubuza imibuzo efana nale:

• Ngingasiza kanjani ekuvikeleni ingane yami ekukhuluphaleni ngokweqile?
• Ukwelashwa kwengane yami kuzohlanganisani?
• Yiziphi izinkinga zokuziphatha ingane yami engase ibe nazo?
• Ingabe akhona amaqembu okusekelana angasisiza sifunde futhi sibhekane ne-PWS?
• Ingabe kuwumqondo omuhle ukwenza ukuhlolwa kofuzo komndeni wami wonke?

Kuvamile ukuzizwa ukhungathekile uma uthola ukuthi ingane yakho inesifo sofuzo esingavamile nesingelapheki. Kodwa-ke, ithimba lezokwelapha lengane yakho lizokunikeza ukwesekwa nesiqondiso osidingayo. Ingane yakho ingathatha isikhathi eside ukufinyelela izigaba zokukhula kunezinye izingane ezingontanga yayo. Izodinga nokunakekelwa okusekelwe impilo yonke ukuze ivimbele izinkinga. Uma unemibuzo mayelana nokuxilongwa kwengane yakho noma ukuthi ungayinakekela kanjani kangcono ingane yakho, ungangabazi ukukhuluma nodokotela wengane yakho.

Izinto ezibaluleke kakhulu okudingeka sizikhumbule (Umyalezo Wokuya Ekhaya)

Kulungile, ake siphinde sixoxe ngezinye zezinto ezibaluleke kakhulu esikhulume ngazo namuhla nge-Prader-Willi Syndrome:

• Lesi yisimo esingavamile kakhulu sofuzo, okusho ukuthi akubangelwanga iphutha labazali.
• Ezinye izimpawu zingabonakala ngisho nasebuntwaneni , njengokudinwa kanye nobunzima bokuncelisa.
• Ukulamba njalo nokudla ngokweqile kuyizimpawu ezibalulekile zalesi simo, okungaholela ekukhuluphaleni ngokweqile.
• Lokhu kungathinta intuthuko yengane, ukuziphatha kwayo, kanye nokufunda kwayo.
• Nakuba kungekho ikhambi, kunezindlela zokwelapha ezingasiza ekulawuleni izimpawu nasekuphileni impilo engcono. Kubaluleke kakhulu ukuqaphela lesi sifo kusenesikhathi bese uqala ukwelashwa.
• Ukusekela abazali nomndeni kubaluleke kakhulu. Ungathola usizo kodokotela, ochwepheshe bezokudla, abelaphi, kanye namaqembu okusekela.

Ngithemba ukuthi lolu lwazi luzokusiza. Uma unenkinga ethile ngengane yakho, ungangabazi ukufuna iseluleko sezokwelapha.

I- Prader-Willi syndrome, i-PWS, izifo zofuzo, impilo yezingane, ukukhuluphala ngokweqile, ukudla, ukubambezeleka kokukhula