Ingabe ingane yakho inalezi zimpawu? Ake sifunde nge-Williams Syndrome

Njengomama noma ubaba, iphupho lethu elikhulu ukuba nengane enempilo. Kodwa ngezinye izikhathi izingane zethu zingafika kuleli zwe zinezinkinga zempilo ezingavamile. Ingabe ingane yakho encane ibukeka incane kakhulu kunobudala bayo? Ingabe ubuso bayo bubukeka buhlukile, bukhethekile kunezinye izingane? Futhi ingabe inobungane kakhulu, iyamomotheka futhi ikhuluma nabo bonke abantu ebabonayo? Lokhu kungaba ngezinye izikhathi izimpawu zesimo esingavamile sofuzo esibizwa ngokuthi "i-Williams Syndrome". Ungakhathazeki, sizokhuluma ngalokhu ngokucacile nangokulula.

Kalula nje, iyini i-Williams Syndrome?

I-Williams syndrome, ngezinye izikhathi ebizwa ngokuthi i-Williams-Beuren syndrome, iyisimo esingavamile sofuzo. Kalula nje, ama-chromosome, angaphakathi kwamaseli emizimba yethu, anquma konke kusukela ekuphakameni kwethu kuya kumbala wethu nokubukeka kwethu. Afana nencwadi yemiyalelo eyakha imizimba yethu. Ingane ene-Williams syndrome inengxenye encane ye-chromosome 7 engekho. Kufana namakhasi ambalwa angekho encwadini yemiyalelo. Le ngxenye ye-gene engekho ibangela izimpawu ezihambisana nalesi simo.

Lesi simo singathinta ukukhula kwengane, ikhono lokufunda, ukusebenza kwenhliziyo, kanye nokubukeka kwayo. Singabangela nezinkinga ezithile zamahomoni, njengamazinga aphezulu e-calcium egazini, i-thyroid engasebenzi kahle, kanye nokuthomba kwasekuqaleni.

Lesi simo sivela kanjani? Ubani othola lokhu ?

Ezimweni eziningi, lokhu akuyona into ezuzwe njengefa kumama noma kuyise. Kungukuguquka okuzenzakalelayo okwenzeka ngesikhathi sokukhulelwa, okubangela ukulahlekelwa yingxenye ye-chromosome yesi-7. Ngakho-ke, umama noma ubaba abanakusolwa ngalokhu. Lokhu akuyona into umuntu angayivimbela.

Kodwa-ke, uma umuntu one-Williams syndrome enengane, kunethuba elingu-50% lokuthi ingane izozuza lesi simo njengefa.

Lesi yisimo esingavamile kakhulu. Ngokwezibalo emazweni afana neMelika, ingane eyodwa kuphela kweziyi-10,000 ezizalwayo inalesi simo. Kukhona nezingane ezinalesi simo eSri Lanka, kodwa akuvamile kakhulu.

Lesi simo siyithinta kanjani ingane yami?

Ukukhulisa ingane ene-Williams Syndrome kungaba yinselele, kodwa ngokuhlonza ingane kusenesikhathi kanye nokwelashwa nokusekelwa okudingekayo, nayo ingafinyelela amandla ayo aphelele.

Cabanga nje, ngoba laba bantwana banamajoyinti axegayo, baqala ukuhlala nokuhamba sekwephuzile kunezinye izingane. Bangase babe nezinkinga ezithile zokuzalwa ezinhliziyweni zabo noma emithanjeni yegazi ehlobene nenhliziyo. Ngezinye izikhathi lokhu kungadinga ukuhlinzwa. Ngakho-ke, ukuhlolwa njalo kwezokwelapha kuyadingeka.

Enye yezinto ezimangalisa kakhulu ngalaba bantwana ukuthi banamakhono aphezulu okukhuluma nokuxhumana. Bakhuluma kahle futhi banomusa kakhulu. Kodwa ngenxa yaleli thalente, ngezinye izikhathi siyabukhumbula ubuthakathaka babo bokufunda, isibonelo, ubunzima bokufunda izinombolo nezinhlamvu. Banobunzima obuncane bokuqonda umehluko phakathi kwento eyodwa nenye (ukucabanga kwendawo).

Yiziphi izimpawu ezivamile?

Akuzona zonke izingane ezine-Williams syndrome ezifanayo. Ezinye zingase zibe nezimpawu eziningi, ezinye zingase zibe nezimbalwa. Ake sihlukanise lezi zimpawu.

Izinto okufanele uziqaphele kakhulu: Isifo senhliziyo

Inkinga enkulu kakhulu ebonakala kulesi simo yisifo senhliziyo. Ikakhulukazi, ukuncishiswa (i-stenosis) kwemithambo yegazi eyinhloko exhunywe enhliziyweni kanye nemithambo ethwala igazi emaphashini kungabonakala. Lokhu kungaholela ekucindezelekeni kwegazi okuphezulu, ukushaya kwenhliziyo okungajwayelekile (i-arrhythmia), futhi ngezinye izikhathi ngisho nokwehluleka kwenhliziyo. Ngokuvamile, ukusola kokuqala ukuthi ingane ine-Williams syndrome kungenxa yale nkinga yenhliziyo.

Odokotela bakuthola kanjani lokhu?

Lesi simo sivame ukutholakala ebuntwaneni noma ebuntwaneni. Uma udokotela wakho esola ngokubukeka kwengane yakho kanye nezimpawu zayo, uzoqala ngokuyihlola ngokucophelela.

Ngemuva kwalokho, kwenziwa ukuhlolwa okukhethekile kwezakhi zofuzo ukuqinisekisa lesi simo. Lokhu kufana nokuhlolwa kwegazi okuvamile. Lokhu kungahlola kahle ukuthi leyo ngxenye ye-chromosome 7 engikhulume ngayo ekuqaleni ayikho yini.

Ngaphezu kwalokho, kungenziwa ezinye izivivinyo eziningana ukuqinisekisa ezinye izimpawu zengane:

• Ukuhlola inhliziyo: I-ECG noma i-Echocardiogram (i-ultrasound scan yenhliziyo)
• Ukulinganisa umfutho wegazi: Hlola ukuthi umfutho wegazi lakho uphakeme ngendlela engavamile.
• Ukuhlolwa kwegazi nomchamo: Hlola ukusebenza kwezinso kanye namazinga e-calcium egazini.

Ilashwa kanjani? Ingabe lokhu kungelapheka?

I-Williams Syndrome ayisona isifo esingelapheki ngokuphelele. Ngoba ibangelwa ukuguquka kwezakhi zofuzo. Kodwa-ke, izimpawu nezinkinga ezibangelwa yiyo zingalawulwa kahle kakhulu. Lokho kusho ukuthi singenza konke okusemandleni ethu ukusiza ingane iphile impilo evamile nejabulisayo.

Uhlelo lokwelashwa luzohluka kuye ngengane, kuye ngezimpawu zengane.

• Ukuvakashela udokotela wenhliziyo: Uma kunenkinga yenhliziyo, uzonquma ukuthi yiluphi ukwelashwa okudingekayo (mhlawumbe imithi noma ukuhlinzwa).
• Izinhlelo Zokungenelela Kwasekuqaleni:Kubaluleke kakhulu ukudlulisela ingane ezintweni ezifana nokwelashwa kokukhuluma kanye nokwelashwa nge-physiotherapy ukuze kuvinjelwe ukubambezeleka kokukhula.
• Imfundo Ekhethekile: Uma kukhona izinkinga zokufunda, ingane idinga uhlelo lwemfundo oluhambisana nezidingo zayo.
• Abanye ochwepheshe: Uma amazinga e-calcium egazini lakho ephezulu, kungadingeka ukuthi ubonane nodokotela wezinzwa noma isazi sokudla okunempilo. Kungadingeka futhi ukuthi ufune usizo lochwepheshe ngezinkinga zamazinyo, amehlo kanye nezindlebe.

Yini okudingeka ngiyazi njengomzali?

Kuvamile ukuzizwa udabuke futhi wesaba uma uthola isifo esinjengalesi. Kodwa into ebaluleke kakhulu ukunikeza ingane yakho uthando, ukunakekelwa kanye nokusekelwa okungcono kakhulu.

• Bona udokotela wakho ngesikhathi: Kubalulekile ukuqapha impilo yengane yakho njalo, ikakhulukazi uma kunezinkinga ezihlobene nenhliziyo.
• Yiba nesineke: Ingane yakho ifunda konke ngejubane layo. Sebenza nayo ngesineke nangothando. Yazisa ngisho nempumelelo yayo emincane.
• Awuwedwa: ​​Khuluma nabanye abazali abanezingane ezinje. Okuhlangenwe nakho kwabo kuzoba umthombo omkhulu wamandla kuwe. Futhi, khuluma ngokukhululekile nodokotela wakho ngemibuzo nezinto ezikukhathazayo.

Iningi labantu abane-Williams syndrome liphila impilo ejwayelekile. Kodwa-ke, izinkinga ezinkulu zenhliziyo ngezinye izikhathi zinganciphisa isikhathi sabo sokuphila. Bangase badinge ukwesekwa okuthile njengoba bekhula.

Kufanele ubonane nini nodokotela?

Uma ingane yakho inezimpawu ezilandelayo, kubaluleke kakhulu ukubona udokotela wezingane ukuze uthole iseluleko.

Kufanele uye nini e-Emergency Treatment Unit (ETU)?

Uma ingane ikhombisa noma yiziphi izimpawu ezilandelayo zesifo senhliziyo, yiyise ngokushesha eMnyangweni Wezimo Eziphuthumayo (ETU) wesibhedlela esiseduze.

• Ukushintsha kombala wesikhumba noma wezindebe okuluhlaza okwesibhakabhaka/okunsomi .
• Ukuphefumula okusheshayo noma ubunzima bokuphefumula.
• Ukuthola ubunzima obukhulu bokudla.
• Isilinganiso senhliziyo sishesha kakhulu.
• Ukuvuvukala komzimba, ikakhulukazi ubuso nemilenze .

Lesi simo asithelelani, kodwa uthando nobudlelwano balezi zingane "buthelelana ngempela." Ziletha injabulo kubo bonke abazungezile. Ukubhekana nokuxilongwa okusha kungaba nzima, ngakho-ke nikeza ingane yakho ukwesekwa kwakho njalo.