Yintoni iWeaver Syndrome? Lumka ngomntwana wakho!

Ngaba wakha waphawula ukuba abanye abantwana bakhula ngokukhawuleza kakhulu kunabanye abantwana abaneminyaka yabo, okanye ukuba kukho umahluko othile kwinkangeleko yabo? Ngamanye amaxesha njengabazali, siyakhathazeka kancinci xa sibona izinto ezinje, akunjalo? Ngamanye amaxesha ezinje, kunokuba yinto engaqhelekanga, kodwa kukho imeko engaqhelekanga kakhulu, yemfuza ebizwa ngokuba yiWeaver Syndrome. Namhlanje, siza kuthetha ngale nto ngendlela elula onokuyiqonda.

Yintoni kanye kanye iWeaver Syndrome?

Ngamafutshane, i-Weaver Syndrome, ngamanye amaxesha ebizwa ngokuba yi-Weaver-Smith syndrome, yimeko yemfuza . Eyona nto iphambili koku kukuba amathambo omzimba akhule ngokukhawuleza kunokuba kufuneka. Oku kunokubangela ukuba umntwana abe mde kakhulu kuneminyaka yakhe. Kwakhona, le meko inokubangela utshintsho kwimo yobuso bomntwana kunye nobukhulu bentloko yakhe. Ngamanye amaxesha inokuchaphazela izihlunu kunye nezinye iindawo zomzimba.

Khumbula, ayinguye wonke umntu ochaphazeleka ngendlela efanayo. Nangona kunjalo, uphawu oluphambili abantu abaninzi abalubonayo kukuphakama okungaqhelekanga. Ukuba wena okanye umntwana wakho une-Weaver Syndrome, unokuba nemisipha ephantsi, ubunzima bokuhamba nokubamba izinto, kunye neengalo okanye imilenze egobileyo okanye ekhubazekileyo. Abanye abantwana banokuba nokukhubazeka kwengqondo . Oku kunokuqala kokuncinci ukuya kokuqatha.

Ixhaphake kangakanani le meko?

Esi sisifo esingaqhelekanga kakhulu. Oogqirha bafumanise inani elincinci labantu kwihlabathi liphela, malunga nama-50, ngoko ungacinga ukuba sinqabile kangakanani.

I-Weaver Syndrome iyichaphazela njani impilo?

Le meko inokunyusa kancinci umngcipheko womntwana wokuba nohlobo lomhlaza olubizwa ngokuba yiNeuroblastoma . I-Neuroblastoma luhlobo lomhlaza oludla ngokuchaphazela abantwana abangaphantsi kweminyaka emi-5 ubudala. Abanye abantwana banokuba nesifo sentliziyo esizalwa naso, esinokufuna utyando. Nangona kunjalo, ngonyango olufanelekileyo kunye nokubekwa esweni , uninzi lwabantwana abane-Weaver Syndrome banokuphila ubomi obusempilweni baze babe ngabantu abadala.

Yintoni isizathu soku? Kutheni oku kusenzeka?

I-Weaver Syndrome sisifo semfuza . Isifo semfuza yimeko eyenzeka xa kukho utshintsho (silubiza ngokuba yi-mutation) kwiijini zethu. I-Weaver Syndrome inxulunyaniswa nejini ebizwa ngokuba yi-EZH2. Olu tshintsho kwijini ye-EZH2 lubangela ukulahleka kwamathambo.Ikhula ngokukhawuleza. Kwakhona, oku kuqala ukusabela kwetsheyini echaphazela ezinye iijini ezininzi emzimbeni. Yiyo loo nto iWeaver Syndrome inokuchaphazela izihlunu ezahlukeneyo, amathambo, kunye namalungu omzimba.

Nangona kunjalo, oogqirha abakayiqondi kakuhle indlela olu tshintsho lwezakhi zofuzo lwe-`(EZH2)` olubangela ngayo i-Weaver Syndrome. Malunga nesiqingatha sabantu abane-Weaver Syndrome balufumana njengelifa olu tshintsho lwezakhi zofuzo komnye wabazali babo. Ukuba umama okanye utata unalo tshintsho lwezakhi zofuzo lwe-`(EZH2)`, kukho amathuba angama-50% okuba umntwana naye uza kulufumana njengelifa xa enomntwana.

Nangona kunjalo, i-Weaver Syndrome ayisoloko izuzwa ngabazali. Abanye abantu banokuhlakulela olu tshintsho lwezakhi zofuzo (EZH2) nokuba abazali babo abanalo.

Zithini iimpawu zeWeaver Syndrome?

Iimpawu zeWeaver Syndrome ngamanye amaxesha zinokubonakala xa umntwana esesesibelekweni . Ngexesha lokuhlolwa kwe-ultrasound ngexesha lokukhulelwa kwakho, ugqirha angabona ukuba amathambo omntwana made kunesiqhelo. Ukuba oku kuyenzeka, ugqirha angatsho ukuba umntwana unesifo esibizwa ngokuba yi-macrosomia, oko kuthetha ukuba umntwana mkhulu kunesiqhelo.

Ukuba usana lwakho olusandul’ ukuzalwa lune-Weaver Syndrome, lusenokuba lude xa luzalwa okanye lube nobunzima obuphezulu . Iintsana ezine-Weaver Syndrome zihlala zikhala ngelizwi eliphantsi, elirhabaxa, nelikhalayo.

Kwezinye iimeko, umntwana usenokungabonakalisi zimpawu zicacileyo kangangeenyanga eziliqela.

Ugqirha wakho usenokuthi umntwana wakho "uneminyaka yamathambo ephucukileyo." Oku kuthetha ukuba amathambo akhe akhula ngokukhawuleza kunesiqhelo. Ukukhula komntwana wakho kunokukhawulezisa kangangokuba kunokugqitha neetshathi zokukhula eziqhelekileyo.

I-Weaver Syndrome inokubangela utshintsho olulandelayo kwinkangeleko yentloko okanye yobuso:

• Ibunzi elibanzi
• Ulusu olongezelelekileyo kwikona engaphakathi yamehlo (ii-Epicanthal folds)
• Imingxunya ye-palpebral ejonge phantsi
• I-Orbital hypertelorism ( amehlo akude kakhulu )
• Ukuba nentloko enkulu (iMacrocephaly)
• Iindlebe ezinkulu okanye ezisezantsi
• Ukwanda kobude bephiltrum phakathi komlomo ophezulu kunye nempumlo
• Umhlathi omncinci ongezantsi `(Micrognathia)`

I-Weaver Syndrome inokuchaphazela amanye amalungu omzimba kunye neenkqubo zomzimba. Ukuba wena okanye umntwana wakho unale meko, unokufumana oku kulandelayo:

• Iimeko zentliziyo zokuzalwa
• I-clubfoot okanye i-metatarsus adductus
• Iingqiniba okanye amadolo angenakwandiswa ngokupheleleyo
• Ukungakwazi ukwandisa ngokupheleleyo iminwe (iCamptodactyly) kunye neenzwane ezinkulu ezibanzi
• Ukukhubazeka kwamalungu ezinzwane
• Ukukhubazeka kwengqondo
• Ukungakhululeki kwemisipha yesisu kunokubangela i-hernia (ukuvela kwamathumbu).
• I-Scoliosis
• Ukuziva ukuqina kwemisipha kwiingalo nasemilenzeni
• Ubunzima bokufikelela kwimigangatho yophuhliso kwiintsana nabantwana abancinci (umz., ukulibazisa ukuphakamisa intloko, ukuqengqeleka, ukuhlala, nokuhamba)

Uyibona njani le nto kanye kanye?

Ukuba ugqirha wakho urhanela ukuba kukho iWeaver Syndrome, unokuyalela uvavanyo lwemfuza ukuze kukhangelwe utshintsho lwemfuza lwe-EZH2 . Oku kudla ngokubandakanya ukuthatha isampuli yegazi uze uyithumele kwilebhu yovavanyo lwemfuza.

Ngamanye amaxesha, ugqirha wakho unokuvavanya utshintsho oluninzi lwezakhi zofuzo ukuze athintele ezinye iimeko zezakhi zofuzo. Oku kubizwa ngokuba yiphaneli yovavanyo lwezakhi zofuzo . Oku kungenxa yokuba kukho ezinye iimeko zezakhi zofuzo, ezifana neSotos syndrome, ezineempawu ezifanayo neWeaver Syndrome. Ngoko ke, iphaneli yovavanyo efana nale inokukunceda ufumanise ukuba loluphi utshintsho lwezakhi zofuzo onalo wena okanye umntwana wakho.

Ziziphi iindlela zonyango lwe-Weaver Syndrome?

Okwangoku akukho nyango lweWeaver Syndrome. Nangona kunjalo, ugqirha wakho anokukunceda wena okanye umntwana wakho ukuba alawule le meko ngokwenza isicwangciso sokhathalelo esinokuquka:

• Ukuba kukho ukukhubazeka kwengqondo, unyango lwempilo yokuziphatha (umz., imfundo ekhethekileyo, unyango lokuziphatha) luyafumaneka.
• Ukuba kukho izifo zentliziyo ezizalwa nazo, zinyange kwaye uzilawule ngononophelo lwentliziyo .
• Inkxaso eyongezelelweyo yomsebenzi wesikolo nokufunda (umz., uqeqesho olukhethekileyo, umcebisi wezemfundo).
• Ukuba uneengxaki ngamalunga akho, iingalo, okanye imilenze, unokufuna utyando lwamathambo okanye ezinye iinkqubo zonyango .
• Unyango lomzimba lokuphuhlisa amandla emisipha kunye nokulungelelaniswa komzimba.

Eyona nto ibalulekileyo kukuba, ekubeni konke oku kwahluka kumntwana ngamnye, iqela loogqirha liyahlangana ukuze lenze esi sicwangciso sokhathalelo esifanelekileyo kumntwana.

Ngaba ikho indlela yokuthintela iWeaver Syndrome?

Ngelishwa, okwangoku akukho ndlela eyaziwayo yokuthintela iWeaver Syndrome.Abantwana banokuyizuza le nto kubazali babo, kodwa isenokukhula ngokuzenzekelayo ngaphandle kokuba nabani na kusapho abe nayo. Kunokwenzeka ukuba umzali abe ngumthwali wale nguqu yemfuza, kodwa basenokungazi.

Ndingayazi njani ukuba ndisemngciphekweni?

Ukuba kukho umntu kusapho lwakho onesimo esizuzwe njengelifa okanye esaziwayo sokuguquka kwezakhi zofuzo , licebo elihle ukubuza ugqirha wakho malunga novavanyo lwezakhi zofuzo. Olu vavanyo lunokuchonga utshintsho oluthile lwezakhi zofuzo olunokubangela iingxaki zempilo. Olu vavanyo lunokukunceda ufumane malunga neemeko zezakhi zofuzo onokuzidlulisela kubantwana bakho.

Injani imbono yomntu one-Weaver Syndrome?

Nangona kungekho nyango lwe-Weaver Syndrome, abantu abanale meko banokuphila ubomi obusempilweni ngokulawulwa ngokufanelekileyo. Eyona nto ibalulekileyo kukubona ugqirha wakho rhoqo ukuze alawule iimpawu zakho aze afumane unyango olufunayo. Abanye abantwana abane-Weaver Syndrome basengozini yokuba nomhlaza obizwa ngokuba yi-neuroblastoma, kodwa uninzi lwabo alunalo. Nangona kunjalo, ugqirha wakho unokuthetha nawe ngeempawu ze-neuroblastoma kwaye angenza iimvavanyo ezongezelelweyo kumntwana wakho ukuba kuyimfuneko.

Ufanele ufune nini ingcebiso kagqirha? Zeziphi iimpawu ekufuneka uzixhalabise ngazo?

Kubalulekile ukuba uhlolwe rhoqo kwaye uthethe nogqirha wakho malunga nazo naziphi na iingxaki zempilo yomzimba okanye yengqondo onokuba nazo. Landela isicwangciso sokhathalelo esinikwa ngugqirha wakho. Ukuba umntwana wakho une-Weaver Syndrome, nawe kufuneka wenze okufanayo.

Ngokukodwa, ukuba umntwana wakho ubonakala enezinye zeempawu ezilandelayo ze-neuroblastoma , yazisa ugqirha womntwana wakho ngoko nangoko:

• Amehlo avele ngaphandle okanye izangqa ezimnyama ezijikeleze amehlo.
• Ukubonakala kweqhubu okanye ithumba elitsha entanyeni okanye esiqwini (esiswini, esifubeni).
• Urhudo, isisu esibuhlungu, ukungabi namdla wokutya.
• Ukuziva udiniwe kakhulu ngumkhuhlane okanye ukukhwehlela.
• Ukuvela kwamaqhuqhuva aluhlaza okwesibhakabhaka okanye amfusa phantsi kolusu.
• Ulusu oluphaphathekileyo.
• Ukudumba kwesisu.
• Ubunzima bokuphefumla.
• Ubuthathaka okanye ukukhubazeka kwemilenze neenyawo (njengokungakwazi ukuhamba).

Okokugqibela, izinto ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

Kubalulekile ukuqonda ukuba i-Weaver Syndrome yimeko engaqhelekanga kakhulu kwaye ichaphazela wonke umntu ngokwahlukileyo . Nangona kungekho nyango, ngonyango olufanelekileyo kunye nesicwangciso sokhathalelo, wena okanye umntwana wakho ninokulawula iimpawu kwaye niphile ubomi obusempilweni kangangoko kunokwenzeka. Kubalulekile ukufumana unyango rhoqo kwaye ulandele imiyalelo kagqirha wakho. Ukuba wena okanye umntu kusapho lwakho unemibuzo malunga noku, ungathandabuzi ukuthetha nogqirha. Baya kukwazi ukukunceda.

"I-Weaver Syndrome, Izifo zeMfuzo, Ukukhula kwamathambo, Ukwanda kobude, i-EZH2 Gene, i-Neuroblastoma