Iyini i-Weaver Syndrome? Qaphela ingane yakho!

Wake waphawula ukuthi ezinye izingane zikhula ngokushesha kakhulu kunezinye izingane ezingontanga yazo, noma ukuthi kunomehluko othile ekubukekeni kwazo? Ngezinye izikhathi njengabazali, siyakhathazeka kancane uma sibona izinto ezinjengalezi, akunjalo? Ngezinye izikhathi ezinjengalezi, kungaba yinto exakile, kodwa kukhona isimo esingavamile kakhulu, esibizwa ngokuthi i-Weaver Syndrome. Namuhla, sizokhuluma ngalokhu ngendlela elula ongayiqonda.

Iyini ngempela i-Weaver Syndrome?

Kalula nje, i-Weaver Syndrome, ngezinye izikhathi ebizwa ngokuthi i-Weaver-Smith syndrome, iyisimo sofuzo . Into eyinhloko kulokhu ukuthi amathambo omzimba akhule ngokushesha kunalokho okudingekayo. Lokhu kungabangela ingane ukuba ide kakhulu kuneminyaka yayo. Futhi, lesi simo singabangela izinguquko esimweni sobuso nekhanda lengane. Ngezinye izikhathi kungathinta nemisipha nezinye izingxenye zomzimba.

Khumbula, akubona bonke abantu abathinteka ngendlela efanayo. Kodwa-ke, uphawu oluyinhloko abantu abaningi abalubonayo ukuphakama okuphezulu ngendlela engavamile. Uma wena noma ingane yakho nine-Weaver Syndrome, ningase nibe nemisipha ephansi, ubunzima bokuhamba nokubamba izinto, kanye nezingalo noma imilenze egobile noma ekhubazekile. Ezinye izingane zingase zibe nokukhubazeka kwengqondo . Lokhu kungasukela kokuncane kuya kokubi kakhulu.

Sivame kangakanani lesi simo?

Empeleni lesi yisimo esingavamile kakhulu. Odokotela bathole inani elincane labantu emhlabeni wonke, cishe abangu-50, ngakho ungacabanga ukuthi singavamile kangakanani.

I-Weaver Syndrome iyithinta kanjani impilo?

Lesi simo singase sandise kancane ingozi yengane yokuthola uhlobo lomdlavuza olubizwa nge-Neuroblastoma . I-Neuroblastoma uhlobo lomdlavuza oluvame ukuthinta izingane ezingaphansi kweminyaka emi-5. Ezinye izingane zingase zibe nesifo senhliziyo esizalwa naso, esingadinga ukuhlinzwa. Kodwa-ke, ngokunakekelwa okufanele kwezokwelapha nokuqapha , izingane eziningi ezine-Weaver Syndrome zingaphila impilo enempilo zize zibe ngabantu abadala.

Iyini imbangela yalokhu? Kungani lokhu kwenzeka?

I-Weaver Syndrome iyisifo sofuzo . Isifo sofuzo yisimo esenzeka lapho kukhona ushintsho (silubiza ngokuthi ukuguquka kwezakhi zofuzo) ezizakhi zofuzo zethu. I-Weaver Syndrome ihlotshaniswa nesakhi sofuzo esibizwa ngokuthi i-EZH2. Lokhu kuguquka kwesakhi sofuzo se-EZH2 kubangela ukulahlekelwa amathambo.Ikhula ngokushesha. Futhi, lokhu kuqala ukusabela kweketanga okuthinta ezinye izakhi zofuzo eziningi emzimbeni. Yingakho i-Weaver Syndrome ingathinta imisipha, amathambo, kanye nezitho ezahlukahlukene.

Kodwa-ke, odokotela abakaqondi kahle ukuthi lokhu kuguqulwa kwezakhi zofuzo `(EZH2)` kubangela kanjani i-Weaver Syndrome. Cishe ingxenye yabantu abane-Weaver Syndrome izuza lokhu kuguqulwa kwezakhi zofuzo komunye wabazali babo. Uma umama noma ubaba enalokhu kuguqulwa kwezakhi zofuzo `(EZH2)`, kunethuba elingama-50% lokuthi ingane nayo izolizuza njengefa uma inengane.

Kodwa-ke, i-Weaver Syndrome ayizuzwa njalo kubazali. Abanye abantu bangathuthukisa lolu shintsho lwezakhi zofuzo (EZH2) noma ngabe abazali babo abanalo.

Ziyini izimpawu ze-Weaver Syndrome?

Izimpawu ze-Weaver Syndrome ngezinye izikhathi zingabonakala ngenkathi umntwana esesesibelethweni . Ngesikhathi sokuhlolwa kwe-ultrasound ngesikhathi sokukhulelwa kwakho, udokotela angase abone ukuthi amathambo omntwana amade kunokujwayelekile. Uma lokhu kwenzeka, udokotela angase athi umntwana unesifo esibizwa ngokuthi i-macrosomia, okusho ukuthi umntwana mkhulu kunokujwayelekile.

Uma ingane yakho esanda kuzalwa ine-Weaver Syndrome, ingase ibelethwe isikhathi eside noma ibe nesisindo esiphezulu . Izingane ezine-Weaver Syndrome zivame ukukhala ngezwi elibukhali, eliphansi, nelikhalayo.

Kwezinye izimo, umntwana angase angabonakali izimpawu ezisobala izinyanga eziningana.

Udokotela wakho angase athi ingane yakho "ineminyaka yamathambo ethuthukile." Lokhu kusho ukuthi amathambo ayo avuthwa ngokushesha kunokujwayelekile. Ukukhula kwengane yakho kungashesha kakhulu kangangokuthi kungadlula ngisho namashadi okukhula ajwayelekile.

I-Weaver Syndrome ingabangela izinguquko ezilandelayo ekubukekeni kwekhanda noma kobuso:

• Ibunzi elibanzi
• Isikhumba esengeziwe ekhoneni elingaphakathi lamehlo (ama-Epicanthal folds)
• Imifantu ye-palpebral ebheke phansi
• I-Orbital hypertelorism ( amehlo aqhelelene kakhulu )
• Ukuba nekhanda elikhulu (i-Macrocephaly)
• Izindlebe ezinkulu noma eziphansi
• Ubude obukhulu be-philtrum phakathi kodebe oluphezulu nekhala
• Umhlathi omncane ongezansi `(Micrognathia)`

I-Weaver Syndrome ingathinta ezinye izingxenye zomzimba nezinhlelo. Uma wena noma ingane yakho ninalesi simo, ningase nibhekane nalokhu:

• Izimo zenhliziyo ezizalwa nazo
• I-Clubfoot noma i-metatarsus adductus
• Izindololwane noma amadolo angenakunwetshwa ngokugcwele
• Ukungakwazi ukwelula iminwe ngokugcwele (i-Camptodactyly) kanye nezinzwane ezinkulu ezibanzi
• Ukukhubazeka kwamalunga ezinzwane
• Ukukhubazeka kwengqondo
• Ukuxega kwemisipha yesisu kungabangela i-hernia (ukuvela kwamathumbu).
• I-Scoliosis
• Ukuzwa ukuqina kwemisipha ezingalweni nasemilenzeni
• Ubunzima bokufinyelela izigaba zokukhula ezinganeni ezincane (isib., ukubambezeleka ekuphakamiseni ikhanda, ukugingqika, ukuhlala phansi, nokuhamba)

Ukubona kanjani lokhu ngqo?

Uma udokotela wakho esola i-Weaver Syndrome, angase acele ukuhlolwa kwezakhi zofuzo ukuze abheke ukuguqulwa kwezakhi zofuzo ze-EZH2 . Lokhu kuvame ukuhilela ukuthatha isampula yegazi bese ulithumela elabhorethri yokuhlola izakhi zofuzo.

Ngezinye izikhathi, udokotela wakho angase ahlole izinguquko eziningana zezakhi zofuzo ukuze anqume ezinye izimo zezakhi zofuzo. Lokhu kubizwa ngokuthi iphaneli yokuhlola izakhi zofuzo . Lokhu kungenxa yokuthi kunezinye izimo zezakhi zofuzo, njenge-Sotos syndrome, ezinezimpawu ezifana ne-Weaver Syndrome. Ngakho-ke, iphaneli yokuhlola efana nale ingakusiza ukuthola ukuthi yikuphi ngempela ukuguqulwa kwezakhi zofuzo wena noma ingane yakho enakho.

Yiziphi izindlela zokwelapha i-Weaver Syndrome?

Okwamanje akukho ukwelashwa kwe-Weaver Syndrome. Kodwa-ke, udokotela wakho angakusiza wena noma ingane yakho ukuthi niphathe lesi simo ngokudala uhlelo lokunakekelwa olungafaka:

• Uma kukhona ukukhubazeka kwengqondo, ukunakekelwa kwempilo yokuziphatha (isib. imfundo ekhethekile, ukwelashwa kokuziphatha) kuyatholakala.
• Uma kunezinkinga zenhliziyo ezizalwa nazo, zelaphe futhi uzilawule ngokunakekelwa kwenhliziyo .
• Ukusekelwa okwengeziwe komsebenzi wesikole nokufunda (isb., ukufundisa okukhethekile, umeluleki wezemfundo).
• Uma unezinkinga ngamajoyinti akho, izingalo, noma imilenze, ungadinga ukuhlinzwa kwamathambo noma ezinye izinqubo zezokwelapha .
• Ukwelashwa ngokomzimba ukuthuthukisa amandla emisipha kanye nokuxhumana komzimba.

Into ebaluleke kakhulu ukuthi, njengoba konke lokhu kuhluka kuye ngengane, ithimba lodokotela liyahlangana ukuze lenze lolu hlelo lokunakekela olufanele ingane.

Ingabe ikhona indlela yokuvimbela i-Weaver Syndrome?

Ngeshwa, okwamanje ayikho indlela eyaziwayo yokuvimbela i-Weaver Syndrome.Izingane zingazuza lokhu kubazali bazo, kodwa kungakhula ngokuzenzekelayo ngaphandle kokuba noma ubani emndenini abe nakho. Kungenzeka ukuthi umzali abe ngumthwali walolu shintsho lwezakhi zofuzo, kodwa kungenzeka ukuthi akazi.

Ngingazi kanjani ukuthi ngisengozini?

Uma othile emndenini wakho enesimo esizuzwe njengefa noma esaziwayo sokuguquka kwezakhi zofuzo , kungumqondo omuhle ukubuza udokotela wakho mayelana nokuhlolwa kwezakhi zofuzo. Lokhu kuhlolwa kungakhomba izinguquko ezithile zezakhi zofuzo ezingabangela izinkinga zempilo. Lokhu kuhlolwa kungakusiza ukuthi uthole ngezimo zezakhi zofuzo ongase uzidlulisele ezinganeni zakho.

Uyini umbono womuntu one-Weaver Syndrome?

Nakuba kungekho ikhambi le-Weaver Syndrome, abantu abanalesi simo bangaphila impilo enempilo ngokuphathwa ngendlela efanele. Into ebaluleke kakhulu ukubona udokotela wakho njalo ukuze alawule izimpawu zakho futhi athole ukunakekelwa okudingayo. Ezinye izingane ezine-Weaver Syndrome zisengozini yokuthola umdlavuza obizwa ngokuthi i-neuroblastoma, kodwa iningi lazo alikwenzi lokho. Kodwa-ke, udokotela wakho angakhuluma nawe ngezimpawu ze-neuroblastoma futhi angenza izivivinyo ezengeziwe zengane yakho uma kudingeka.

Kufanele ufune nini iseluleko sezokwelapha? Yiziphi izimpawu okufanele ukhathazeke ngazo?

Kubalulekile ukuhlolwa njalo nokukhuluma nodokotela wakho nganoma yiziphi izinkinga zempilo yomzimba noma yengqondo ongase ube nazo. Landela uhlelo lokunakekelwa udokotela wakho akunikeza lona. Uma ingane yakho ine-Weaver Syndrome, nawe kufanele wenze okufanayo.

Ikakhulukazi, uma ingane yakho ibonakala inezinye zezimpawu ezilandelayo ze-neuroblastoma , yazisa udokotela wengane yakho ngokushesha:

• Amehlo avelele noma imibuthano emnyama ezungeze amehlo.
• Ukuvela kweqhubu elisha noma isimila entanyeni noma esiqwini (esiswini, esifubeni).
• Uhudo, ukucasuka kwesisu, ukulahlekelwa yisifiso sokudla.
• Ukuzizwa ukhathele kakhulu ngenxa yomkhuhlane noma ukukhwehlela.
• Ukuvela kwamaqhubu aluhlaza okwesibhakabhaka noma ansomi ngaphansi kwesikhumba.
• Isikhumba esimpunga.
• Ukuqunjelwa kwesisu.
• Ubunzima bokuphefumula.
• Ubuthakathaka noma ukukhubazeka kwemilenze nezinyawo (njengokungakwazi ukuhamba).

Okokugcina, izinto okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)

Kubalulekile ukuqonda ukuthi i-Weaver Syndrome iyisimo esingavamile kakhulu futhi sithinta wonke umuntu ngendlela ehlukile . Nakuba kungekho ikhambi, ngokwelashwa okufanele kanye nohlelo lokunakekelwa, wena noma ingane yakho ningaphatha izimpawu futhi niphile impilo enempilo ngangokunokwenzeka. Kubalulekile ukuthola ukunakekelwa kwezokwelapha njalo nokulandela imiyalelo kadokotela wakho. Uma wena noma othile emndenini wakho enemibuzo ngalokhu, unganqikazi ukukhuluma nodokotela. Bazokwazi ukukusiza.

'I-Weaver Syndrome, Izifo Zofuzo, Ukukhula Kwamathambo, Ukuphakama, I-EZH2 Gene, i-Neuroblastoma