Mwana wako ane dambudziko rekukura kwehuropi here? Ngatikurukurei nezve Joubert Syndrome

Unogara uchifunga nezvehutano hwemwana wako, handiti? Dzimwe nguva, vacheche vanogona kuva nematambudziko ehutano asingawanzoitiki. Chimwe chezvirwere zvakadaro iJoubert Syndrome. Unganzwa kushamisika kana ukanzwa zita iri, asi ngatitaure nezvazvo zviri nyore. Ichi chirwere chinokonzerwa nezvinhu zvemajini uye chinokanganisa kukura kwehuropi hwemwana.

Chii chinonzi Joubert Syndrome? Zvichitaurwa zviri nyore...

Joubert syndrome chirwere chisingawanzoitiki chemajini . Chinoitika kana chikamu cheuropi hwemwana chikasakura zvakanaka panguva yekukura kwemwana ari mudumbu, ndiko kuti, achiri mudumbu raamai. Funga nezvazvo, uropi hwedu hwakaita semuchina wakaoma kunzwisisa. Ndiwo mativi akasiyana ayo anodzora zviito zvedu zvese nekushanda pamwe chete. Saka, mumamiriro ezvinhu aya , kukura kwecerebellum neuropi zvinonyanya kukanganiswa.

Kune mhando dzakasiyana dzechirwere ichi, saka zviratidzo zvinogona kusiyana kubva pamwana kuenda kumwana. Zvisinei, zviratidzo zvinowanzoonekwa zvinosanganisira matambudziko ekudzora tsandanyama, kuchinja kwechimiro chetsandanyama, kuoma kufema, uye matambudziko ekufamba kwemaziso.

Pasi rose, mwana mumwe chete pavana 100,000 anoberekwa aine chirwere ichi. Kazhinji, izvi zvinokonzerwa nekuchinja kwemajini kunobva kuvabereki. Asi dzimwe nguva, chirwere ichi chinogona kuitika nguva nenguva pasina chikonzero chakajeka.

Ndezvipi zviratidzo zveJoubert syndrome?

Mwana ane chirwere cheJoubert anogona kuratidza zviratidzo zvakasiyana-siyana. Zviratidzo izvi zvinogona kuchinja mwana paanokura. Zviratidzo zvikuru zvinosanganisira kuchinja kwemuviri, matambudziko emaziso, uye matambudziko echiropa neitsvo.

Matambudziko ane chekuita nehurongwa hwetsinga:

Mwana wako anogona kunge aine matambudziko kana mamiriro ezvinhu ane chekuita netsinga dzakadai se:

• Kunzwa tsandanyama dzisina simba (Hypotonia): Apa ndipo apo tsandanyama dziri mumuviri wemwana dzinotanga kusunuruka. Gare gare, izvi zvinogona kukonzera matambudziko ekubatana kwetsandanyama (ataxia) . Izvi zvinoreva kuti zvinova zvakaoma kufamba kana kubata zvinhu.
• Matambudziko emaziso: Semuenzaniso, unogona kuona mafambiro emaziso anokurumidza zvisingawanzoitiki (nystagmus) kana strabismus (maziso achitenderera mativi akasiyana).
• Matambudziko ekufema: Izvi zvinogona kusanganisira kufema nekukurumidza, kusina kudzika (tachypnea) kana kumbomira kufema (apnea) . Izvi zvinonyanya kuitika kuvana vadiki.
• Kunonoka kukura: Mwana anogona kunonoka kuita zvinhu zvakaita sekutaura, kufamba, uye kutamba zvinoenderana nezera rake.
• Kuremara kwepfungwa: Vamwe vana vanogona kunge vaine zvimwe zvinhu zvisina kunaka zvakaita sekugona kudzidza nekunzwisisa.

Kuchinja kwemuviri:

Zvimwe zvinhu zvakakosha zvinogona kuonekwa muchitarisiko chevana vane chirwere ichi:

• Muromo wakapwanyika uye/kana mukanwa wakapwanyika .
• Zvimiro zvechiso: Semuenzaniso, huma yakafara, maziso akarembera (`ptosis`) , chinhambwe chakafara kupfuura chakajairika pakati pemaziso. Nzeve dzinogona kunge dzakadzikira pane zvakajairika, uye muromo unogona kunge wakaita setriangle nemuromo wepamusoro wakatarira kumusoro pakati.
• Kuva neminwe yakawedzerwa (Polydactyly) (pamaoko kana patsoka).
• Rurimi rwunobuda .

Zvimwe zvirwere:

Mwana paanokura, matambudziko e retina (chikamu cheziso chinoshandura chiedza kuita mifananidzo), itsvo, nechiropa zvinogona kukura. Semuenzaniso, Leber's congenital amaurosis (chirwere chekuona chakakomba), chirwere cheitsvo chinonzi polycystic , kana kutadza kwechiropa kunogona kukura.

Sei chirwere cheJoubert chichiitika? Ndezvipi zvinokonzera?

Chikonzero chikuru cheJoubert syndrome kuchinja kwemajini, kunonzi mutations . Dambudziko iri rinogona kukonzerwa nekuchinja kwemajini anopfuura makumi matatu nemashanu akasiyana anobatsira mukukura kwehuropi.

Kazhinji, kuchinja kwemajini uku kunogarwa nhaka nenzira ye autosomal recessive . Zvichitaurwa zviri nyore, mwana achava nechirwere ichi kana akagara nhaka jini rakachinjwa kubva kuna amai nababa vake.

Zvisinei, chimwe chezvitadzo izvi chinogonawo kugarwa nhaka semutation 'X-linked' . Izvi zvinoreva kuti mutation yemajini iri pachromosome X. Mutations pachromosome X inogona kupfuudzwa kumwana semutation inotonga kana kuti semutation inodzokera shure. Zvisinei, hazvisi pachena nguva dzose kuti mwana akaiwana sei kubva kuvabereki.

Kuchinja kwemajini uku kunokonzera kusashanda zvakanaka muzvikamu zvinotevera zveuropi hwemwana:

• Cerebellum: Apa ndipo patinodzora kubatana kwedu uye kufamba. MuJoubert syndrome, cerebellar vermis, chikamu checerebellum, inogona kunge isipo kana kuti ingave diki pane zvakajairika.
• Brainstem: Izvi zvinodzora kufema uye kuenzana. Izvi hazvikure zvakanaka. Pakuongororwa kwemifananidzo, cerebellar vermis iyi isina kujairika uye brainstem iyi inoita kunge zino. Vanachiremba vanoti ichi chiratidzo chemazino emolar . Kuziva chiratidzo ichi inzira imwe yekuongorora Joubert syndrome.
• Cilia:Idzi idzo zvivako zvidiki zvinobuda pamusoro pemasero, sema antenna anobuda padenga rechivako. Idzi cilia, dzinowanikwa mumasero europi, dzinobatsira nhengo dzemuviri kutaurirana sezvadzinokura. Vaongorori vanotenda kuti kushanduka kwemajini kunokanganisa idzi cilia ndiko kunokonzera matambudziko emaziso, itsvo, nechiropa ane vanhu vane chirwere cheJoubert.

Kuchinja kwemajini uku kunokanganisa sei mhuri yose?

Zvinoenderana nezvinhu zvakaita serudzi rwekuchinja kwemajini uye kuti munhurume kana mukadzi here kana kuti munhukadzi.

• Kugara nhaka yeAutosomal recessive: Munin'ina wemwana ane Joubert syndrome ane mukana we25% wekuva nechirwere ichi. Pane mukana we50% wekuva mutakuri wegene mutation pasina zviratidzo. Pane mukana we25% wekusava negene mutation kana zviratidzo.
• Kugara nhaka kweX-linked: Mwana wechirume ane mukana we50% wekuva nechirwere ichi. Asi kana asina zviratidzo, haasi iye ane chirwere ichi. Mwana wechikadzi ane mukana we25% wekuva nechirwere ichi. Pane mukana we50% wekuva mutakuri wekuchinja kwemajini pasina zviratidzo.

Joubert syndrome inoonekwa sei?

Vanachiremba vanoongorora chirwere cheJoubert zvichibva pazviratidzo zvemwana uye bvunzo dzemifananidzo. Zvinodiwa pakuongorora chirwere ichi ndeizvi:

• 'Chiratidzo chemazino emusana' chinoonekwa paMRI (Magnetic Resonance Imaging) scan yeuropi.
• Zviratidzo zvekusasimba kwetsandanyama (Hypotonia) .
• Kunonoka kukura kwemwana .

Vanachiremba vanogonawo kuraira bvunzo dzemajini kuti vasimbise kuongororwa kwechirwere ichi uye kuronga kurapwa. Ongororo dzakaratidza kuti pakati pe62% ne94% yevana vane chirwere cheJoubert vane chimwe chekuchinja kwemajini kunokonzera chirwere ichi. Kuziva kuchinja kwemajini chaiko kunogona kubatsira vanachiremba kufanotaura matambudziko ehutano emangwana uye kuvarapa nekukurumidza.

"'Chiratidzo chemazino emusana' paMRI yeuropi chakakosha zvikuru pakuongorora chirwere cheJoubert. Kuongororwa kwemajini kunobatsirawo zvikuru pakusimbisa chirwere ichi uye kuronga kurapwa mune ramangwana."

Izvi zvinogona kuonekwa here kuburikidza nekuongororwa kwemwana asati aberekwa?

Zvinogoneka, asi kwete nguva dzose. Shanduko muuropi hwemwana asati aberekwa kana kuti cerebellum dzimwe nguva dzinogona kuonekwa paMRI yemwana asati aberekwa . Zvisinei, zvimwe zvirwere muuropi hwemwana asati aberekwa zvingasaonekwa paMRI scan.

Ndeipi mishonga yekurapa chirwere cheJoubert?

Kurapwa kunosiyana kubva pamwana kuenda kumwana. Zvinoenderana nezvinhu zvakaita serudzi rwechirwere ichi uye kuti chinokanganisa sei mwana. Semuenzaniso:

• Kana mwana wako achinetseka kufema, rubatsiro rwakadai sekuwedzera okisijeni kana kuti mechanical ventilation zvinogona kupihwa.
• Vana vemazera ese vane kunonoka kukura vanogona kurapwa nemuviri , kurapwa nemutauro, uye kurapwa nebasa . Izvi zvinogona kubatsira kuita kuti mabasa ezuva nezuva ave nyore kumwana.
• Mwana ane dambudziko reziso rakadai sestrabismus anogona kuvhiyiwa (strabismus surgery) .

Zvichienderana nekuti Joubert syndrome inokanganisa sei mwana wako, ungangoda kuona nyanzvi nguva nenguva kuti dziongorore, dzitarise, uye dzirape zvirwere zvakaita sechirwere cheitsvo, matambudziko emaziso, uye matambudziko etsinga.

Kana mwana wangu aine chirwere cheJoubert, chii chandinofanira kutarisira?

Remangwana revacheche nevana vane Joubert syndrome rinoenderana nezvinhu zvakawanda. Kunyanya, kushanduka kwemajini kunokanganisa mwana kwakakosha. Kazhinji, vana vane Joubert syndrome vachada rubatsiro rwehutano rwehupenyu hwavo hwese uye rumwe rubatsiro. Chiremba wemwana wako ndiye munhu akakodzera kukupa ruzivo nezveizvi.

Mwana anozvarwa aine chirwere cheJoubert anotarisirwa kurarama hupenyu hwakadii?

Joubert syndrome inogona kuuraya muhudiki. Zvisinei, vamwe vanhu vane chirwere ichi vanorarama kusvika vakura. Vaongorori vachiri kudzidza nezvenguva yekurarama kwechirwere ichi chisingawanzoitiki. Zvakare, chirwere chemwana wako chakasiyana, zvichireva kuti nzira iyo chirwere ichi chinomubata nayo yakasiyana. Zvingori muropa kuda kuziva kuti mwana wako achararama kwenguva yakareba sei. Chikwata chevanachiremba vemwana wako ndicho chakanakisa kuwana ruzivo nezveizvi.

Ndinogona kudzivirira chirwere cheJoubert here?

Zvinosuwisa kuti hapana nzira yekudzivirira chirwere cheJoubert. Zvisinei, nyanzvi dzezvemajini nevapi vemazano ezvemajini vanogona kubatsira kuona kana mumwe munhu mumhuri yako ari panjodzi. Ruzivo irworwo runogona kubatsira vanhu kusarudza, semuenzaniso, kana vachida kuva nevana kana kusaita.

Mwana wangu anofanira kuona chiremba rini?

Zviratidzo zveJoubert syndrome zvinogona kuchinja muhupenyu hwemwana wako. Saka, zvakakosha kuenda nemwana wako kunoongororwa gore rega rega . Chiremba anogona kutarisa zvinotevera:

• Kukura kwemwana nekukura kwake.
• Kuona maziso.
• Kushanda kwechiropa neitsvo.

Mwana wenyu achaongororwa tsinga nguva nenguva uye kuongororwa kukura kwemwana.Ungangodawo kutarisirwa zvakanyanya pakurapa matambudziko emaziso, chirwere cheitsvo, kana chirwere chechiropa.

Ndingazvitarisira sei ini nemhuri yangu?

Joubert syndrome inogona kuita mutsauko mukuru muhupenyu hwemhuri. Inogona kushungurudza munhu wese anoda uye ane hanya nemwana ane chirwere ichi. Kana uine mwana ane Joubert syndrome, mazano aya anogona kubatsira:

• Mapoka ekutsigira: Joubert syndrome chirwere chisingawanzoitiki. Unganzwa sekuti mhuri yako ndiyo yega iri kusangana nematambudziko aya. Nekubatana neboka rekutsigira, unogona kubatana nevamwe vabereki, vanochengeta vana, nemhuri dziri kusangana nematambudziko akafanana.
• Kupa Mazano: Kutaura nachiremba wepfungwa kana imwe nyanzvi yehutano hwepfungwa kunogona kukubatsira iwe nemhuri yako kugadzirisa kushushikana, kuzvidya mwoyo, uye mamwe manzwiro anouya neizvi.
• Iva Nesimba: Joubert syndrome inokonzerwa nezvinhu zvausingagoni kudzora, saka unganzwa usina simba. Kana zvakadaro, funga nezvekushanda nemasangano anotsigira mapurogiramu netsvakiridzo yakaita seiyi.

Mibvunzo ipi yandinofanira kubvunza chiremba wemwana wangu?

Ungave nemibvunzo yakawanda nezvezvinodiwa nemwana wako pari zvino uye remangwana rake. Heano mamwe mazano:

• Rudzii rwekuremara rwatinofanira kutarisira?
• Ndeapi marudzi enyanzvi atinofanira kuona?
• Tinofanira kusangana navo kangani?
• Mwana wangu achada kuvhiyiwa here?
• Upenyu hwemwana wedu huchava hwakaita sei?
• Vamwe vemumhuri vanofanira kuongororwa majini here?

Kuziva kuti mwana wako ane chirwere cheJoubert kunogona kukushamisa zvikuru. Chirwere ichi hachiwanzoitiki, saka ungasaziva zvakawanda nezvacho. Unganzwa sekunge wangoerekana wasvika munyika yausingazive wobva warasika usina mepu kana kambasi yekukuwana nzira.

Vanachiremba vemwana wenyu vanonzwisisa kuti muchava nemibvunzo yakawanda uye zvinokunetsai panguva iyi yausingazive. Musazeza kukumbira ruzivo nerubatsiro. Semuenzaniso, Joubert syndrome inogona kukonzera matambudziko mazhinji ehutano ane zviratidzo zvakasiyana. Uyewo, matambudziko matsva anogona kumuka mwana wenyu achikura.

Vana vazhinji vane chirwere ichi vanoda rubatsiro rwehutano nerubatsiro rwehupenyu hwavo hwese. Chikwata chevanachiremba vemwana wenyu chichavepo kuti chikutsigirei imi nemwana wenyu munzira iyi yausingazive.

Mharidzo Yekuenda Nayo Kumba

Joubert syndrome chirwere chinonetsa, asi yeuka kuti hausi wega.

• Wana ruzivo rwakarurama: Bvunza timu yako yezvekurapa zvese zvaunoda kuziva.
• Kugara uchitarisa mwana wako nezveutano kwakakosha: Gara uchitarisa kukura kwake nehutano hwake.
• Tarisa kune mishonga yekurapa:Zvinhu zvakaita sekurovedza muviri nekurapa kutaura zvinobatsira zvikuru mukuvandudza hunyanzvi hwemwana.
• Ramba wakasimba: Semubereki, kuramba wakasimba isimba guru kumwana wako. Tsvaga mazano kana zvichidikanwa.
• Joyina mapoka ekutsigirana: Zvakaitika kune vamwe zvichakusimbisa.

Kunyangwe rwendo urwu rwakaoma, nerutsigiro rwakakodzera uye kurapwa, unogona kubatsira mwana wako kurarama hupenyu hwakanakisisa.

Joubert syndrome, zvirwere zvemajini, kukura kwehuropi, zvirwere zvevana, hypotonia, ataxia, chiratidzo chemazino emolar