Chii chinonzi Weaver Syndrome? Ziva mwana wako!

Wakamboona here kuti vamwe vana vanokura nekureba nekukurumidza kupfuura vamwe vana vezera ravo, kana kuti pane musiyano muchimiro chavo? Dzimwe nguva sevabereki, tinonetseka zvishoma patinoona zvinhu zvakaita seizvi, handiti? Dzimwe nguva zvakaita seizvi, zvinogona kushamisa, asi pane chirwere chisingawanzoitiki, chinonzi Weaver Syndrome. Nhasi, tichataura nezvazvo nenzira iri nyore yaunogona kunzwisisa.

Chii chinonzi Weaver Syndrome?

Zvichitaurwa zviri nyore, Weaver Syndrome, dzimwe nguva inonzi Weaver-Smith syndrome, chirwere chinokonzerwa nemajini . Chinhu chikuru pane izvi ndechekuti mapfupa emuviri akure nekukurumidza kupfuura zvaanoda. Izvi zvinogona kukonzera kuti mwana arebe kupfuura zera rake. Uyewo, chirwere ichi chinogona kukonzera shanduko muchimiro chechiso nehukuru hwemusoro wemwana. Dzimwe nguva zvinogonawo kukanganisa tsandanyama nedzimwe nhengo dzemuviri.

Yeuka kuti havasi vese vanobatwa nenzira imwechete. Zvisinei, chiratidzo chikuru chinowanikwa nevanhu vazhinji kureba zvisina kujairika. Kana iwe kana mwana wako muine Weaver Syndrome, munogona kunzwa tsandanyama dzisina kusimba, kunetseka kufamba nekubata zvinhu, uye maoko kana makumbo akakotama kana akaremara. Vamwe vana vanogonawo kuva nepfungwa dzakaremara . Izvi zvinogona kubva pane zvishoma kusvika zvakanyanya.

Dambudziko iri rakajairika zvakadii?

Ichi chirwere chisingawanzoitiki. Vanachiremba vakangowana vanhu vashoma pasi rose, vanenge makumi mashanu, saka unogona kufungidzira kuti hachiwanzoitiki sei.

Weaver Syndrome inokanganisa sei hutano?

Dambudziko iri rinogona kuwedzera zvishoma mukana wemwana wekuva nerudzi rwekenza inonzi Neuroblastoma . Neuroblastoma rudzi rwekenza runowanzobata vana vari pasi pemakore mashanu. Vamwe vana vanogonawo kuva nechirwere chemwoyo chekuzvarwa nacho, icho chingada kuvhiyiwa. Zvisinei, nekurapwa kwakakodzera uye kuongororwa , vana vazhinji vane Weaver Syndrome vanogona kurarama hupenyu hwakanaka kusvika vakura.

Chii chiri kukonzera izvi? Sei izvi zviri kuitika?

Weaver Syndrome chirwere chemajini . Chirwere chemajini chirwere chinoitika kana paine shanduko (tinoti kuchinja) mumajini edu. Weaver Syndrome inobatanidzwa nejini rinonzi EZH2. Kuchinja uku mujini reEZH2 kunokonzera kurasikirwa nemapfupa.Inokura nekukurumidza. Zvakare, izvi zvinotanga ketani yekuchinja inokanganisa mamwe majini akawanda mumuviri. Ndosaka Weaver Syndrome ichigona kukanganisa tsandanyama dzakasiyana-siyana, mapfupa, uye nhengo.

Zvisinei, vanachiremba havasati vanyatsonzwisisa kuti kuchinja kwemajini uku kwe`(EZH2)` kunokonzera sei Weaver Syndrome. Vanhu vanenge hafu vane Weaver Syndrome vanogara nhaka kuchinja kwemajini uku kubva kune mumwe wevabereki vavo. Kana amai kana baba vaine kuchinja kwemajini uku kwe`(EZH2)`, pane mukana we50% wekuti mwana achagarawo nhaka kana ava nemwana.

Zvisinei, Weaver Syndrome haisi nguva dzose inogarwa nhaka kubva kuvabereki. Vamwe vanhu vanogona kukura nekuchinja kwemajini uku (EZH2) kunyangwe vabereki vavo vasina.

Ndezvipi zviratidzo zveWeaver Syndrome?

Zviratidzo zveWeaver Syndrome dzimwe nguva zvinogona kuonekwa mwana achiri mudumbu . Panguva yekuongororwa kwe ultrasound panguva yekuzvitakura kwako, chiremba anogona kuona kuti mapfupa emwana akareba kupfuura zvakajairika. Kana izvi zvikaitika, chiremba anogona kutaura kuti mwana ane chirwere chinonzi macrosomia, zvinoreva kuti mwana mukuru pane zvakajairika.

Kana mwana wako achangoberekwa aine Weaver Syndrome, anogona kunge areba pakuzvarwa kana kuti ane huremu hwakanyanya . Vana vane Weaver Syndrome vanowanzochema nenzwi rakashoshoma, rakaderera, uye rinochema.

Mune zvimwe zviitiko, mwana anogona kusaratidza zviratidzo zviri pachena kwemwedzi yakati wandei.

Chiremba wako angati mwana wako "ane mapfupa akura." Izvi zvinoreva kuti mapfupa ake ari kukura nekukurumidza kupfuura zvakajairika. Kukura kwemwana wako kunogona kukurumidza zvekuti kunogona kutopfuura machati ekukura akajairika.

Weaver Syndrome inogona kukonzera shanduko dzinotevera pakuonekwa kwemusoro kana kumeso:

• Huru yakafara
• Ganda rakawedzerwa pakona yemukati memaziso (Epicanthal folds)
• Mitswe yepalpebral inotsveyama pasi
• Kupisa kwemaziso ari kure zvakanyanya (orbital hypertelorism)
• Kuva nemusoro mukuru (Macrocephaly)
• Nzeve dzakakura kana dzakaderera
• Kureba kwakawedzera kwephiltrum pakati pemuromo wepamusoro nemhino
• Rushaya rudiki rwezasi `(Micrognathia)`

Weaver Syndrome inogona kukanganisa dzimwe nhengo dzemuviri nenhengo dzemuviri. Kana iwe kana mwana wako muine chirwere ichi, munogonawo kusangana ne:

• Matambudziko emwoyo ekuzvarwa nawo
• Clubfoot kana metatarsus adductus
• Magokora kana mabvi asingakwanise kutambanudza zvizere
• Kusakwanisa kutambanudza minwe zvizere (Camptodactyly) uye zvigunwe zvikuru zvakafara
• Kukanganisika kwemajoini ezvigunwe
• Kuremara kwepfungwa
• Kureruka kwetsandanyama dzemudumbu kunogona kukonzera hernia (kubuda kwemudumbu).
• Scoliosis
• Kunzwa kuomarara kwetsandanyama mumaoko nemakumbo
• Kuomerwa nekusvika padanho rekukura muvana vacheche nevana vadiki (semuenzaniso, kunonoka kusimudza musoro, kukunguruka, kugara, uye kufamba)

Unozviziva sei izvi chaizvo?

Kana chiremba wako achifungidzira kuti ane Weaver Syndrome, anogona kuraira kuongororwa kwemajini kuti vaone kana EZH2 gene mutation yavapo . Izvi zvinowanzosanganisira kutora ropa woritumira kuchipatara chekuongorora majini.

Dzimwe nguva, chiremba wako anogona kuyedza magene akasiyana-siyana kuti aone kana paine mamwe majini asina kunaka. Izvi zvinonzi genetic testing panel . Izvi zvinodaro nekuti kune mamwe majini, akadai seSotos syndrome, ane zviratidzo zvakafanana neWeaver Syndrome. Saka, test panel yakaita seiyi inogona kukubatsira kuziva kuti ndeipi gene mutation yaunayo iwe kana mwana wako.

Ndezvipi zvinorapwa zveWeaver Syndrome?

Parizvino hapana mushonga weWeaver Syndrome. Zvisinei, chiremba wako anogona kukubatsira iwe kana mwana wako kugadzirisa dambudziko iri nekugadzira hurongwa hwekuchengeta hunogona kusanganisira:

• Kana paine matambudziko epfungwa, rubatsiro rwehutano hwemaitiro (semuenzaniso, dzidzo yakakosha, kurapwa kwemaitiro) rwunowanikwa.
• Kana paine matambudziko emwoyo awakazvarwa nawo, arape uye uarape nekuchengetedza mwoyo .
• Rutsigiro rwakawedzerwa rwebasa rechikoro nekudzidza (semuenzaniso, kudzidziswa kwakakosha, mupi wezano wezvedzidzo).
• Kana uine matambudziko nemajoini ako, maoko, kana makumbo, ungangoda kuvhiyiwa kwemapfupa kana mamwe maitiro ekurapa .
• Kurapa kwemuviri kuti kusimbise tsandanyama uye kushanda pamwe chete kwemuviri.

Chinhu chinonyanya kukosha ndechekuti, sezvo zvese izvi zvichisiyana kubva pamwana kuenda kumwana, timu yevanachiremba inoungana kuti igadzire hurongwa uhwu hwekutarisira hwakakodzera mwana.

Pane nzira yekudzivirira Weaver Syndrome here?

Zvinosuwisa kuti pari zvino hapana nzira inozivikanwa yekudzivirira Weaver Syndrome.Vana vanogona kugara nhaka iyi kubva kuvabereki vavo, asi inogonawo kukura yoga pasina mumwe munhu mumhuri ane chirwere ichi. Zvinokwanisika kuti mubereki ave ndiye anotakura chirwere ichi, asi vanogona kusazviziva.

Ndingaziva sei kana ndiri panjodzi?

Kana mumwe munhu mumhuri yako aine chirwere chakagarwa nhaka kana kuti chinozivikanwa nekuchinja kwemajini , zvakanaka kubvunza chiremba wako nezvekuongororwa kwemajini. Kuongororwa uku kunogona kuona mamwe majini anogona kukonzera matambudziko ehutano. Kuongororwa uku kunogona kukubatsira kuziva nezvezvirwere zvemajini zvaungapfuudza kuvana vako.

Ndeipi tarisiro yemunhu ane Weaver Syndrome?

Kunyange hazvo pasina mushonga weWeaver Syndrome, vanhu vane chirwere ichi vanogona kurarama hupenyu hwakanaka kana vachitarisirwa zvakanaka. Chinhu chakakosha ndechekuona chiremba wako nguva dzose kuti ugadzirise zviratidzo zvako uye uwane rubatsiro rwaunoda. Vamwe vana vane Weaver Syndrome vari panjodzi yekubatwa negomarara rinonzi neuroblastoma, asi vazhinji havadaro. Zvisinei, chiremba wako anogona kutaura newe nezvezviratidzo zve neuroblastoma uye anogona kuita mimwe miedzo yemwana wako kana zvichidikanwa.

Unofanira kutsvaga rubatsiro rwechiremba riini? Ndezvipi zviratidzo zvaunofanira kunetseka nazvo?

Zvakakosha kugara uchiongororwa uye kutaura nachiremba wako nezvematambudziko emuviri kana epfungwa aungave nawo. Tevedzera chirongwa chekuchengeta chaunopihwa nachiremba wako. Kana mwana wako aine Weaver Syndrome, iwe unofanira kuitawo saizvozvo.

Zvikuru sei, kana mwana wako achiratidzika kunge ane chimwe chezviratidzo zvinotevera zve neuroblastoma , zivisa chiremba wemwana wako nekukasika:

• Maziso akabudikira kana kuti madenderedzwa matema akakomberedza maziso.
• Kuonekwa kwebundu idzva kana bundu pamutsipa kana pahudyu (dumbu, pachipfuva).
• Manyoka, kushushikana mudumbu, kushaya chido chekudya.
• Kunzwa kuneta zvakanyanya nefivha kana kukosora.
• Kuonekwa kwemapundu ebhuruu kana epepuru pasi peganda.
• Ganda rakachenuruka.
• Kuzvimba kwedumbu.
• Kutadza kufema zvakanaka.
• Kushaya simba kana kuoma mitezo yemakumbo netsoka (sekutadza kufamba).

Pakupedzisira, zvinhu zvekurangarira (Mharidzo Yekuenda Kumba)

Zvakakosha kunzwisisa kuti Weaver Syndrome chirwere chisingawanzoitiki uye chinobata munhu wese zvakasiyana . Kunyangwe pasina mushonga, nekurapwa kwakakodzera uye chirongwa chekuchengeta, iwe kana mwana wako munogona kugadzirisa zviratidzo uye kurarama hupenyu hune hutano sezvinobvira. Zvakakosha kuwana rubatsiro rwechiremba nguva dzose uye kutevedzera mirairo yachiremba wenyu. Kana iwe kana mumwe munhu mumhuri yako ane mibvunzo nezveizvi, musazeza kutaura nachiremba. Vachakwanisa kukubatsirai.

'Weaver Syndrome, Zvirwere zveMajini, Kukura kweMapfupa, Kureba, EZH2 Gene, Neuroblastoma