Kodi Weaver Syndrome ndi chiyani? Dziwani mwana wanu!

Kodi mwaonapo kuti ana ena amakula msanga kuposa ana ena a msinkhu wawo, kapena kuti pali kusiyana kwina pa maonekedwe awo? Nthawi zina monga makolo, timada nkhawa pang'ono tikaona zinthu ngati izi, sichoncho? Nthawi zina ngati izi, zimakhala zodabwitsa, koma pali vuto losowa kwambiri la majini lotchedwa Weaver Syndrome. Lero, tikambirana izi m'njira yosavuta yomwe mungamvetse.

Kodi Weaver Syndrome ndi chiyani kwenikweni?

Mwachidule, Weaver Syndrome, yomwe nthawi zina imatchedwa Weaver-Smith syndrome, ndi matenda a majini . Chofunika kwambiri pa izi ndichakuti mafupa a thupi amakula mofulumira kuposa momwe amafunikira. Izi zingapangitse mwana kukhala wamtali kwambiri kuposa zaka zake. Komanso, vutoli lingayambitse kusintha kwa mawonekedwe a nkhope ndi mutu wa mwana. Nthawi zina lingakhudzenso minofu ndi ziwalo zina za thupi.

Kumbukirani, si aliyense amene amakhudzidwa mofanana. Komabe, chizindikiro chachikulu chomwe anthu ambiri amakumana nacho ndi kutalika kwambiri. Ngati inu kapena mwana wanu muli ndi Weaver Syndrome, mutha kukhala ndi minofu yochepa, kuvutika kuyenda ndi kugwira zinthu, komanso manja kapena miyendo yowerama kapena yopindika. Ana ena amathanso kukhala ndi vuto la maganizo . Izi zimatha kuyambira pang'ono mpaka kufika poipa kwambiri.

Kodi vutoli ndi lofala bwanji?

Imeneyi ndi vuto losowa kwambiri. Madokotala apeza anthu ochepa okha padziko lonse lapansi, pafupifupi 50, kotero mutha kuganiza momwe limakhalira losowa.

Kodi Weaver Syndrome imakhudza bwanji thanzi?

Matendawa angawonjezere pang'ono chiopsezo cha mwana chotenga khansa yotchedwa Neuroblastoma . Neuroblastoma ndi mtundu wa khansa womwe nthawi zambiri umakhudza ana osakwana zaka 5. Ana ena amathanso kukhala ndi matenda a mtima obadwa nawo, omwe angafunike opaleshoni. Komabe, ndi chisamaliro choyenera chachipatala ndi kuyang'aniridwa , ana ambiri omwe ali ndi Weaver Syndrome amatha kukhala ndi moyo wathanzi mpaka atakula.

Kodi chifukwa chake ndi chiyani? N’chifukwa chiyani izi zikuchitika?

Weaver Syndrome ndi matenda a majini . Matenda a majini ndi vuto lomwe limachitika pakachitika kusintha (tikutcha kusintha kwa majini) m'majini athu. Weaver Syndrome imagwirizanitsidwa ndi jini yotchedwa EZH2. Kusintha kumeneku mu jini ya EZH2 kumayambitsa kutayika kwa mafupa.Imakula mofulumira. Komanso, izi zimayambitsa kayendedwe ka unyolo komwe kamakhudza majini ena ambiri m'thupi. Ichi ndichifukwa chake Weaver Syndrome imatha kukhudza minofu, mafupa, ndi ziwalo zosiyanasiyana.

Komabe, madokotala sakumvetsabe bwino momwe kusintha kwa majini kwa `(EZH2)` kumeneku kumachititsira Weaver Syndrome. Pafupifupi theka la anthu omwe ali ndi Weaver Syndrome amalandira kusintha kwa majini kuchokera kwa m'modzi mwa makolo awo. Ngati mayi kapena bambo ali ndi kusintha kwa majini kwa `(EZH2)`, pali mwayi wa 50% kuti mwanayo adzalandiranso akabereka mwana.

Komabe, Weaver Syndrome si nthawi zonse yochokera kwa makolo. Anthu ena amatha kukhala ndi kusintha kwa majini (EZH2) ngakhale makolo awo alibe.

Kodi zizindikiro za Weaver Syndrome ndi ziti?

Zizindikiro za Weaver Syndrome nthawi zina zimatha kuoneka mwana akadali m'mimba . Pa nthawi ya ultrasound scan mukakhala ndi pakati, dokotala angaone kuti mafupa a mwana ndi aatali kuposa masiku onse. Ngati izi zitachitika, dokotala anganene kuti mwanayo ali ndi vuto lotchedwa macrosomia, zomwe zikutanthauza kuti mwanayo ndi wamkulu kuposa masiku onse.

Ngati mwana wanu wakhanda ali ndi Weaver Syndrome, akhoza kukhala ndi nthawi yayitali pobadwa kapena kukhala ndi kulemera kwakukulu . Ana omwe ali ndi Weaver Syndrome nthawi zambiri amalira ndi mawu okweza, otsika, komanso odandaula.

Nthawi zina, mwana sangasonyeze zizindikiro zoonekeratu kwa miyezi ingapo.

Dokotala wanu anganene kuti mwana wanu "wakula bwino mafupa." Izi zikutanthauza kuti mafupa ake akukhwima mofulumira kuposa masiku onse. Kukula kwa mwana wanu kumatha kukhala kofulumira kwambiri kotero kuti kungapitirire ngakhale matchati a kukula kwachibadwa.

Matenda a Weaver Syndrome angayambitse kusintha kotereku pa mawonekedwe a mutu kapena nkhope:

• Pamphumi ponseponse
• Khungu lowonjezera pakona yamkati mwa maso (Epicanthal folds)
• Ming'alu ya palpebral yokhotakhota pansi
• Orbital hypertelorism ( maso omwe ali kutali kwambiri )
• Kukhala ndi mutu waukulu (Macrocephaly)
• Makutu akuluakulu kapena otsika
• Kutalika kwa philtrum pakati pa mlomo wapamwamba ndi mphuno
• Nsagwada yaying'ono yapansi `(Micrognathia)`

Matenda a Weaver Syndrome angakhudze ziwalo zina za thupi ndi machitidwe. Ngati inu kapena mwana wanu muli ndi vutoli, mungakumanenso ndi izi:

• Matenda a mtima obadwa nawo
• Clubfoot kapena metatarsus adductus
• Zigongono kapena mawondo omwe sangathe kukulitsidwa mokwanira
• Kulephera kutambasula zala mokwanira (Camptodactyly) ndi zala zazikulu zazikulu
• Kufooka kwa ziwalo za zala za mapazi
• Kulephera kwa nzeru
• Kusakhazikika kwa minofu ya m'mimba kungayambitse hernia (kutuluka kwa m'mimba).
• Scoliosis
• Kumva kuuma kwa minofu m'manja ndi miyendo
• Kuvutika kufika pamlingo wokulirapo mwa makanda ndi ana aang'ono (monga kuchedwa kukweza mutu, kugubuduzika, kukhala tsonga, ndi kuyenda)

Kodi mumazindikira bwanji izi?

Ngati dokotala wanu akukayikira kuti muli ndi Weaver Syndrome, angakupatseni mayeso a majini kuti afufuze kusintha kwa majini a EZH2 . Izi nthawi zambiri zimaphatikizapo kutenga magazi ndikutumiza ku labu yoyesera majini.

Nthawi zina, dokotala wanu angayese kusintha kwa majini angapo kuti atsimikizire matenda ena a majini. Izi zimatchedwa gulu loyesera majini . Izi zili choncho chifukwa pali matenda ena a majini, monga Sotos syndrome, omwe ali ndi zizindikiro zofanana ndi Weaver Syndrome. Chifukwa chake, gulu loyesera ngati ili lingakuthandizeni kudziwa bwino lomwe kusintha kwa majini komwe inu kapena mwana wanu muli nako.

Kodi mankhwala a Weaver Syndrome ndi ati?

Pakadali pano palibe mankhwala a Weaver Syndrome. Komabe, dokotala wanu angakuthandizeni inu kapena mwana wanu kuthana ndi vutoli popanga dongosolo la chisamaliro lomwe lingaphatikizepo:

• Ngati pali zilema zamaganizo, chithandizo chamankhwala cha khalidwe (monga maphunziro apadera, chithandizo cha khalidwe) chimapezeka.
• Ngati muli ndi matenda a mtima obadwa nawo, chizani ndi kuwasamalira ndi chisamaliro cha mtima .
• Thandizo lowonjezera pa ntchito ya kusukulu ndi kuphunzira (monga mphunzitsi wapadera, mlangizi wa maphunziro).
• Ngati muli ndi vuto ndi mafupa anu, manja, kapena miyendo, mungafunike opaleshoni ya mafupa kapena njira zina zamankhwala .
• Kuchiza thupi kuti minofu ikhale yolimba komanso kuti thupi lizigwirizana bwino.

Chofunika kwambiri n’chakuti, popeza zonsezi zimasiyana malinga ndi mwana, gulu la madokotala limasonkhana kuti lipange dongosolo losamalira mwana lomwe ndi loyenera.

Kodi pali njira yopewera Weaver Syndrome?

Mwatsoka, pakadali pano palibe njira yodziwika yopewera Weaver Syndrome.Ana akhoza kutenga izi kuchokera kwa makolo awo, koma zimathanso kukula zokha popanda wina aliyense m'banjamo kukhala nazo. N'zotheka kuti kholo likhale ndi kachilombo ka kusintha kwa majini, koma mwina sakudziwa.

Ndingadziwe bwanji ngati ndili pachiwopsezo?

Ngati wina m'banja mwanu ali ndi vuto lobadwa nalo kapena kusintha kwa majini komwe kumadziwika , ndi bwino kufunsa dokotala wanu za kuyezetsa majini. Mayesowa amatha kuzindikira kusintha kwa majini komwe kungayambitse mavuto azaumoyo. Mayesowa angakuthandizeni kudziwa za matenda a majini omwe mungapereke kwa ana anu.

Kodi chiyembekezo cha munthu amene ali ndi matenda a Weaver Syndrome ndi chotani?

Ngakhale kuti palibe mankhwala a Weaver Syndrome, anthu omwe ali ndi vutoli akhoza kukhala ndi moyo wathanzi ngati akusamalidwa bwino. Chofunika kwambiri ndikuonana ndi dokotala nthawi zonse kuti athetse zizindikiro zanu ndikupeza chithandizo chomwe mukufuna. Ana ena omwe ali ndi Weaver Syndrome ali pachiwopsezo chotenga khansa yotchedwa neuroblastoma, koma ambiri satero. Komabe, dokotala wanu akhoza kukuuzani za zizindikiro za neuroblastoma ndipo angachite mayeso ena kwa mwana wanu ngati pakufunika kutero.

Kodi muyenera kufunafuna upangiri wa dokotala liti? Ndi zizindikiro ziti zomwe muyenera kuda nkhawa nazo?

Ndikofunikira kupita kukayezetsa nthawi zonse ndikukambirana ndi dokotala wanu za mavuto aliwonse okhudzana ndi thanzi lanu la thupi kapena lamaganizo. Tsatirani dongosolo la chisamaliro lomwe dokotala wanu wakupatsani. Ngati mwana wanu ali ndi Weaver Syndrome, inunso muyenera kuchita chimodzimodzi.

Makamaka, ngati mwana wanu akuwoneka kuti ali ndi zizindikiro zotsatirazi za neuroblastoma , dziwitsani dokotala wa mwana wanu nthawi yomweyo:

• Maso otuluka kapena mabwalo akuda ozungulira maso.
• Kuoneka kwa chotupa chatsopano pakhosi kapena thunthu (m'mimba, pachifuwa).
• Kutsegula m'mimba, kuvutika m'mimba, kusowa chilakolako cha chakudya.
• Kumva kutopa kwambiri chifukwa cha malungo kapena chifuwa.
• Kuoneka kwa ziphuphu zabuluu kapena zofiirira pansi pa khungu.
• Khungu lotumbululuka.
• Kutupa m'mimba.
• Kuvuta kupuma.
• Kufooka kapena kufooka kwa miyendo ndi mapazi (monga kulephera kuyenda).

Pomaliza, zinthu zoti muzikumbukira (Uthenga Wopita Nawo Kunyumba)

Ndikofunikira kumvetsetsa kuti Weaver Syndrome ndi matenda osowa kwambiri ndipo amakhudza aliyense mosiyana . Ngakhale kuti palibe mankhwala, ndi chithandizo choyenera chamankhwala ndi dongosolo losamalira, inu kapena mwana wanu mutha kuthana ndi zizindikirozo ndikukhala ndi moyo wathanzi momwe mungathere. Ndikofunikira kupeza chithandizo chamankhwala nthawi zonse ndikutsatira malangizo a dokotala wanu. Ngati inu kapena wina m'banja mwanu muli ndi mafunso okhudza izi, musazengereze kulankhula ndi dokotala. Adzakuthandizani.

'Matenda a Weaver, Matenda a Majini, Kukula kwa Mafupa, Kukwera Msinkhu, Jini la EZH2, Neuroblastoma