Nukae nye Weaver Syndrome? Kpɔ nyuie le viwòa ŋu!

Ède dzesii kpɔ be ɖevi aɖewo tsina kabakaba wu ɖevi bubu siwo nye woƒe ƒemetɔwo, alo be vovototo aɖewo le woƒe dzedzeme mea? Ɣeaɖewoɣi abe dzilawo ene la, míetsia dzimaɖi vie ne míekpɔ nu siawo tɔgbi, alo? Le ɣeyiɣi siawo tɔgbe me la, ate ŋu atɔtɔ susu, gake domenyiŋusẽfianu ƒe nɔnɔme aɖe si mebɔ kura o, si woyɔna be Weaver Syndrome, li. Egbea, míaƒo nu tso esia ŋu le mɔ bɔbɔe aɖe si gɔme nàte ŋu ase nu.

Nuka tututue nye Weaver Syndrome?

Kpuie ko la, Weaver Dɔléle, si woyɔna ɣeaɖewoɣi be Weaver-Smith ƒe dɔléle, nye domenyiŋusẽfianu ƒe dɔléle . Nu vevitɔ si le esia mee nye be ŋutilãa ƒe ƒuwo tsina kabakaba wu alesi wòhiã. Esia ate ŋu ana ɖevia nakɔ wu woƒe ƒe sãsãsã. Azɔ hã, nɔnɔme sia ate ŋu ana ɖevia ƒe mo ƒe nɔnɔme kple ta ƒe lolome natrɔ. Ɣeaɖewoɣi la, ate ŋu agblẽ nu le lãmekawo kple ŋutilã ƒe akpa bubuwo hã ŋu.

Ðo ŋku edzi be menye amesiamee wògblẽa nu le le mɔ ɖeka nu o. Gake dzesi vevitɔ si ame geɖe kpɔnae nye kɔkɔme si mesɔ o. Ne Weaver Syndrome le ŋuwò alo viwòa ŋu la, àte ŋu akpɔ lãmekawo ƒe ɖiɖi, azɔlizɔzɔ kple nuwo léle sesẽ na wò, eye wò abɔ alo afɔwo nabɔbɔ alo azu nuwɔametɔ. Ðevi aɖewo hã ate ŋu axɔ susu ƒe dɔmawɔmawɔ nyuie . Esia ate ŋu atso esi nu mesẽ o dzi va ɖo esi nu sẽ dzi.

Aleke gbegbee nɔnɔme sia bɔe?

Le nyateƒe me la, esia nye nɔnɔme si mebɔ kura o. Ame ʋɛ aɖewo koe ɖɔktawo de dzesii le xexeame katã, siwo ade 50, eyata àte ŋu akpɔ alesi gbegbe wòbɔe la le susu me.

Aleke Weaver Syndrome kpɔa ŋusẽ ɖe lãmesẽ dzii?

Nɔnɔme sia ate ŋu ana ɖevi ƒe kansa ƒomevi aɖe si woyɔna be Neuroblastoma xɔxɔ nadzi ɖe edzi vie. Neuroblastoma nye kansa ƒomevi aɖe si dzea ɖevi siwo mexɔ ƒe 5 haɖe o dzi zi geɖe. Dzidɔ si wodzina hã ate ŋu anɔ ɖevi aɖewo ŋu, si ate ŋu ahiã be woawɔ dɔ na wo. Gake ne wokpɔ egbɔ nyuie eye wole ŋku lém ɖe ɖevi siwo ŋu Weaver Syndrome le ŋu la, woate ŋu anɔ agbe le lãmesẽ me vaseɖe woƒe tsitsime.

Nuka tae wòle alea ɖo? Nukatae esia le dzɔdzɔm?

Weaver Syndrome nye domenyiŋusẽfianu ƒe dɔléle . Domenyiŋusẽfianu ƒe dɔléle nye nɔnɔme si dzɔna ne tɔtrɔ (míeyɔnɛ be tɔtrɔ) va míaƒe domenyiŋusẽfianuwo me. Weaver Syndrome do ƒome kple domenyiŋusẽfianu aɖe si woyɔna be EZH2. Dzɔdzɔmenugbagbevi sia si trɔna le EZH2 domenyiŋusẽfianu me nana ƒuwo buna.Etsina kabakaba wu. Azɔ hã, esia dzea kɔsɔkɔsɔ ƒe dɔwɔwɔ gɔme si gblẽa nu le domenyiŋusẽfianu bubu geɖe siwo le ŋutilãa me ŋu. Esia tae Weaver Syndrome ate ŋu agblẽ nu le lãmeka, ƒu, kple ŋutinu vovovowo ŋu ɖo.

Ke hã, ɖɔktawo mese alesi tututu domenyiŋusẽfianu ƒe tɔtrɔ sia si nye `(EZH2)` hea Weaver Syndrome vɛ la gɔme bliboe haɖe o. Amesiwo ŋu Weaver Syndrome le ƒe afã lɔƒo nyi domenyiŋusẽfianu ƒe tɔtrɔ sia ƒe dome tso wo dzilawo dometɔ ɖeka gbɔ. Ne domenyiŋusẽfianu ƒe tɔtrɔ sia le vidada alo fofoa si `(EZH2)` la, mɔnukpɔkpɔ anɔ abe 50% ene be ɖevia hã anyi dome ne wodzi vi.

Gake menye ɣesiaɣie wonyi Weaver Syndrome ƒe dome tso dzilawo gbɔ o. Ame aɖewo ate ŋu axɔ domenyiŋusẽfianu ƒe tɔtrɔ sia (EZH2) ne mele wo dzilawo si o gɔ̃ hã.

Nukawoe nye Weaver Syndrome ƒe dzesiwo?

Woate ŋu akpɔ Weaver Syndrome ƒe dzesiwo ɣeaɖewoɣi esime vidzĩa gakpɔtɔ le vidzidɔa me . Le ultrasound scan wɔwɔ me le wò fufɔɣi la, ɖɔkta ate ŋu akpɔe be vidzĩa ƒe ƒuwo didi wu alesi wòle dzɔdzɔmee. Ne edzɔ alea la, ɖɔkta ate ŋu agblɔ be dɔléle aɖe le vidzĩa ŋu si woyɔna be macrosomia, si fia be vidzĩa lolo wu alesi wòle dzɔdzɔmee.

Ne Weaver Syndrome le viwò yeyea ŋu la, ate ŋu adidi wu le edziɣi alo woƒe kpekpeme asɔ gbɔ wu le edziɣi . Zi geɖe la, vidzĩ siwo ŋu Weaver Syndrome le la faa avi kple gbe si me kɔ, si mebɔ o, si me ɣlidodo.

Le go aɖewo me la, ɖewohĩ vidzĩa maɖe dzesi siwo dze ƒã afia o hena ɣleti geɖe.

Ðewohĩ wò ɖɔkta agblɔ be viwòa ƒe “ƒuwo tsi wu.” Esia fia be eƒe ƒuwo le tsitsim kabakaba wu alesi wòle dzɔdzɔmee. Viwòa ƒe tsitsi ate ŋu awɔ kabakaba ale gbegbe be ate ŋu agbɔ tsitsi ƒe nɔnɔmetata siwo sɔ gɔ̃ hã ŋu.

Weaver Syndrome ate ŋu ana tɔtrɔ siwo gbɔna nava ta alo mo ƒe dzedzeme me:

• Ŋgonu si keke
• Ŋutilã bubu le ŋkuawo ƒe dzogoe ememetɔ (Epicanthal folds) .
• Aɖuɖɔtoe ƒe ʋuʋudedi siwo le anyigba
• Orbital hypertelorism ( ŋku siwo dome didi akpa ) .
• Ta gã aɖe ƒe amesinɔnɔ (Macrocephaly) .
• To gãwo alo esiwo mebɔbɔ o
• Philtrum ƒe didime si dzi ɖe edzi le nuyi si le etame kple ŋɔti dome
• Aɖu sue si le ete `(Micrognathia)`

Weaver Syndrome ate ŋu adze ŋutilã ƒe akpa bubuwo kple eƒe ɖoɖowo dzi. Ne nɔnɔme sia le ŋuwò alo viwòa ŋu la, àte ŋu akpɔe hã be:

• Dzi ƒe nɔnɔme siwo wodzina
• Afɔkpodzi alo metatarsus adductus
• Abɔta alo klo siwo womate ŋu akeke bliboe o
• Asibidɛwo keke bliboe ƒe ŋutete manɔamesi (Camptodactyly) kple afɔbidɛ gã siwo keke
• Afɔbidɛwo ƒe ƒunukpeƒewo ƒe nɔnɔme madeamedziwo
• Susu ƒe nuwɔametɔnyenye
• Ƒodo ƒe lãmekawo ƒe ʋuʋu ate ŋu ana ame nazu hernia (dɔgbo ƒe dodo).
• Scoliosis ƒe dɔléle
• Seselelãme be lãmekawo le sesẽm le abɔwo kple afɔwo ŋu
• Vidzĩwo kple ɖevi suewo ƒe tsitsi ƒe nu veviwo gbɔ ɖoɖo sesẽ (e.g., ta kɔkɔ, ʋuʋu, anyinɔƒe, kple azɔlizɔzɔ ƒe megbetsitsi) .

Aleke tututu nèwɔna dea dzesi esia?

Ne wò ɖɔkta susui be Weaver Syndrome le eŋu la, ate ŋu aɖe gbe be woado domenyiŋusẽfianu kpɔ atsɔ adi EZH2 domenyiŋusẽfianu ƒe tɔtrɔ . Zi geɖe la, esia bia be woaɖe ʋu aɖe atsɔ aɖoe ɖe domenyiŋusẽfianu dodokpɔwɔƒe.

Ɣeaɖewoɣi la, wò ɖɔkta ate ŋu ado domenyiŋusẽfianu ƒe tɔtrɔ geɖe kpɔ be yeaɖe domenyiŋusẽfianu ƒe nɔnɔme bubuwo ɖa. Woyɔa esia be domenyiŋusẽfianu dodokpɔ ƒe ƒuƒoƒo . Esia le alea elabena domenyiŋusẽfianu ƒe nɔnɔme bubuwo li, abe Sotos ƒe dɔléle ene, siwo ƒe dzesiwo sɔ kple Weaver Dɔléle. Eyata dodokpɔha aɖe abe esia ene ate ŋu akpe ɖe ŋuwò nànya domenyiŋusẽfianu ƒe tɔtrɔ si tututu le wò alo viwòa ŋu.

Nukawoe nye Weaver Syndrome ƒe atikewo?

Fifia la, womekpɔ atike aɖeke na Weaver Syndrome o. Gake wò ɖɔkta ate ŋu akpe ɖe ŋuwò alo viwòa ŋu nàkpɔ dɔlélea gbɔ to belélename ƒe ɖoɖo aɖe wɔwɔ me . Le kpɔɖeŋu me, belélename ƒe ɖoɖo sia ate ŋu anye:

• Ne susu ƒe nuwɔametɔwo li la, nuwɔna ŋuti lãmesẽnyawo gbɔ kpɔkpɔ (e.g., hehenana tɔxɛ, nuwɔna ƒe atikewɔwɔ) li.
• Ne dzidɔ aɖewo li siwo wodzina la, tsɔ Dzitodzito me dɔlélewo da dɔe eye nàkpɔ wo gbɔ .
• Kpekpeɖeŋu bubuwo na sukudɔwo kple nusɔsrɔ̃ (e.g., hehenana tɔxɛ, sukudede ŋuti aɖaŋuɖola).
• Ne kuxiwo le wò ƒunukpeƒewo, abɔwo, alo afɔwo ŋu la, ahiã be woawɔ dɔ na wò le ƒumeŋuɖui alo atikewɔwɔ bubuwo me .
• Lãmesẽfefewɔwɔ be woatu lãmekawo ƒe ŋusẽ kple ŋutilã ƒe dɔwɔwɔ ɖekae ɖo.

Nu vevitɔe nye be, esi nusiawo katã toa vovo tso ɖevi ɖesiaɖe gbɔ ta la, ɖɔktawo ƒe ƒuƒoƒo aɖe ƒoa ƒu wɔa belélename ƒe ɖoɖo sia si sɔ na ɖevia.

Ðe mɔ aɖe li si dzi woato axe mɔ ɖe Weaver Syndrome nua?

Nublanuitɔe la, mɔ aɖeke meli si wonya fifia si dzi woato axe mɔ ɖe Weaver Syndrome nu o.Ðeviwo ate ŋu anyi esia ƒe dome tso wo dzilawo gbɔ, gake ate ŋu adzɔ le eɖokui si hã evɔ ƒomea me tɔ aɖeke manɔ esia si o. Ate ŋu adzɔ be dzila nanye domenyiŋusẽfianu ƒe tɔtrɔ sia tsɔla, gake ɖewohĩ womenyae o.

Aleke mawɔ anya ne mele afɔku me?

Ne dɔléle aɖe si ƒe dome nènyi alo domenyiŋusẽfianu ƒe tɔtrɔ si wonya le wò ƒomea me , anyo be nàbia wò ɖɔkta tso domenyiŋusẽfianu dodokpɔ ŋu. Dodokpɔ siawo ate ŋu ade dzesi domenyiŋusẽfianu ƒe tɔtrɔ aɖewo siwo ate ŋu ahe lãmesẽkuxiwo vɛ. Dodokpɔ siawo ate ŋu akpe ɖe ŋuwò nànya domenyiŋusẽfianu ƒe nɔnɔme siwo nàte ŋu atsɔ ana viwòwo.

Nukae nye mɔkpɔkpɔ na amesi ŋu Weaver Syndrome le?

Togbɔ be atike aɖeke meli na Weaver Syndrome o hã la, amesiwo ŋu dɔlélea le ate ŋu anɔ agbe le lãmesẽ me ne wokpɔ egbɔ nyuie. Nu vevitɔe nye be nàyi ɖɔkta gbɔ edziedzi be nàkpɔ wò dzesiwo gbɔ eye nàkpɔ beléle si nèhiã. Ðevi aɖewo siwo ŋu Weaver Syndrome le la ate ŋu axɔ kansa si woyɔna be neuroblastoma, gake wo dometɔ akpa gãtɔ ya mexɔe o. Gake wò ɖɔkta ate ŋu aƒo nu tso ahɔhɔ̃mekawo ƒe dɔléle ƒe dzesiwo ŋu na wò eye ate ŋu awɔ dodokpɔ bubuwo na viwòa ne ehiã.

Ɣekaɣie wòle be nàdi atikewɔlawo ƒe aɖaŋuɖoɖo? Dzesi kawo ŋue wòle be nàtsi dzi ɖo?

Ele vevie be nàdo wò ɖɔkta kpɔ edziedzi eye nàƒo nu tso ŋutilã alo susu me lãmesẽkuxi ɖesiaɖe si ate ŋu ado mo ɖa ŋu na wò ɖɔkta. Wɔ ɖe belélename ƒe ɖoɖo si wò ɖɔkta na wò dzi. Ne Weaver Syndrome le viwòa ŋu la, ele be nàwɔ nenema ke.

Vevietɔ ne edze abe ahɔhɔ̃mekawo ƒe dɔléle ƒe dzesi siwo gbɔna dometɔ aɖe le viwòa ŋu ene la, na viwòa ƒe ɖɔkta nanya enumake:

• Ŋku siwo do ɖe gota alo gotagome doviviti siwo ƒo xlã ŋkuawo.
• Kpe alo dɔdzẽ yeye ƒe dzedzeme le kɔ alo akɔta (dɔgbo, akɔta).
• Aɖuɖɔtoe, dɔgbo ƒe dɔmawɔmawɔ nyuie, nuɖuɖu ƒe dzodzro.
• Ðeɖiteameŋu si gbɔ eme kple dzoxɔxɔ alo kɔdzidede.
• Blu alo aŋutiɖiɖi ƒe dzedzeme le ŋutigbalẽa te.
• Ŋutilã si ƒe ŋutigbalẽ le ɣie.
• Ƒodo ƒe ʋuʋu.
• Yagbɔgbɔ sesẽ.
• Afɔwo kple afɔwo ƒe gbɔdzɔgbɔdzɔ alo lãmetutudɔ (abe azɔlizɔzɔ ƒe ŋutetemanɔamesi ene).

Mlɔeba la, nusiwo dzi wòle be woaɖo ŋkui (Take-Home Message) .

Ele vevie be míase egɔme be Weaver Syndrome nye dɔléle si mebɔ kura o eye wòdzea amesiame dzi le mɔ vovovowo nu . Togbɔ be atike aɖeke meli o hã la, ne wowɔ atike na viwò nyuie eye nèwɔ ɖoɖo ɖe beléle nɛ ŋu la, àte ŋu akpɔ dzesiawo gbɔ ahanɔ agbe le lãmesẽ me alesi nàte ŋui. Ele vevie be nàkpɔ atikewɔnyawo gbɔ edziedzi eye nàwɔ ɖe wò ɖɔkta ƒe mɔfiamewo dzi. Ne nya aɖe le wò alo wò ƒomea me tɔ aɖe si ku ɖe esia ŋu la, mègahe ɖe megbe le nuƒoƒo kple ɖɔkta me o. Woate ŋu akpe ɖe ŋuwò.

`Weaver Syndrome, Domenyiŋusẽfianudɔlélewo, Ƒu ƒe Tsitsi, Kɔkɔme ƒe Dzidziɖedzi, EZH2 Domenyiŋusẽfianu, Neuroblastoma