Mwana wenyu ane chirwere cheTay-Sachs here? (Chirwere cheTay-Sachs) - Ngatikurukurei nezvenyaya iyi

Hapana chinofadza kupfuura kuona mwana achangoberekwa. Asi mwana iyeye paanokura, achikunguruka sevamwe vacheche, asingagari, uye achimuka kana angonzwa ruzha rudiki, zvakaoma kutaura kutya nekuzvidya mwoyo kunonzwa amai kana baba. Nhasi tiri kutaura nezvechirwere chisingawanzoitiki chinoshungurudza vabereki vakadaro, asi tinofanira kuziva. Ichi chirwere cheTay-Sachs.

Zvichitaurwa zviri nyore, chii chinonzi chirwere cheTay-Sachs?

Tay-Sachs chirwere chemajini chinopfuudzwa kubva kuchizvarwa kuenda kune chimwe, chichikuvadza ma neuron muuropi hwemwana wedu nemusana, zvichizopedzisira zvaparadza masero iwayo. Funga nezvazvo sefekitori mumuviri wedu. Fekitori iyi ine enzyme yakakosha yekubvisa marara asina kufanira (zvinhu zvine chepfu). Chinoitika muchirwere cheTay-Sachs ndechekuti enzyme iyi haigadzirwe. Ipapo marara iwayo, kureva mafuta, anotanga kuungana mukati memasero etsinga. Zvinhu izvi zvine chepfu zvinoungana uye zvinokuvadza masero etsinga.

Ichi chirwere chinoramba chichienderera mberi, chine zviratidzo zvinoramba zvichiwedzera kubva pamwana kuenda kumwana. Zvinosuwisa kuti vana vanofa vachiri vadiki nekuda kwechirwere ichi. Hapana mushonga parizvino. Zvisinei, kune mishonga inogona kubatsira kuderedza zviratidzo uye kuchengetedza mwana akasununguka sezvinobvira.

Ndeapi marudzi makuru echirwere cheTay-Sachs?

Chirwere ichi chakakamurwa kuita mhando nhatu huru zvichienderana nezera rinotanga kuoneka zviratidzo. Kuti zvive nyore kunzwisisa, ngatichitarisei nenzira iyi.

Chinonyanya kukosha ndechekuti chirwere cherudzi urwu chinopfuudzwa kubva kuchizvarwa kuenda kune chimwe mumhuri nenzira imwecheteyo. Semuenzaniso, kana mwana mumwe chete akava nechimiro chevacheche, vamwe vana mumhuri havazove panjodzi yekuva nechimiro chechirwere ichi panguva yekunonoka.

Ndezvipi zviratidzo zvechirwere cheTay-Sachs?

Zviratidzo zvinosiyana zvichienderana nezera remwana uye rudzi rwechirwere. Tichatarisa mhando yezviratidzo zvinowanzoonekwa muhucheche (Classic Infantile).

Zviratidzo zveVacheche zveClassical

• Zviratidzo zvekutanga (anenge mwedzi mitanhatu):
• Kushaya simba kwetsandanyama.
• Kuomerwa nekukunguruka, kugara, kana kukambaira.
• Ruzha rukuru runobva rwangoerekana rwaitika runokonzera kuvhunduka kwakasimba.

• Munguva yekuwedzera kwechirwere (gore risati rasvika):
• Kusvetuka-svetuka kwetsandanyama kusingatarisirwi (myoclonic jerks).
• Kubatwa nepfari.
• Kuoma kumedza chikafu (dysphagia).
• Kurasikirwa zvishoma nezvishoma kwekuona nekunzwa.
• Chiremba paanoongorora maziso, anoona dota dzvuku rakaita secherry pa retina yeziso. Ichi chiratidzo chinozivikanwa nechirwere ichi.
• Zvirwere zvekufema zvinowanzoitika (semuenzaniso pneumonia).

Pazera remakore maviri, chirwere chacho chave kutonga mwana zvizere. Mwana anogona kupinda mumamiriro ezvinhu asingachaiti basa. Izvi zvinoreva kuti mashandiro mazhinji europi anorasikirwa. Zvinosuwisa kuti vana ava vanowanzofa vari pakati pemakore maviri nemana. Chikonzero cherufu kazhinji chirwere chakakomba chakadai sepneumonia.

Zviratidzo muhudiki nekukura

Izvi hazviwanzoitiki, saka ngatimboongororai zvishoma.

• Vana: Zviratidzo zvinosanganisira kushaya simba kwetsandanyama, kunetseka kutaura, kukanganwa zvinhu zvakadzidzwa, kuchinja maitiro, uye pfari.
• Kutanga kunonoka:Kushaya simba kwetsandanyama nekudedera, kuoma kufamba (ataxia), kuoma kutaura nekumedza, uye matambudziko epfungwa (psychosis) zvinogona kuitika.

Sei izvi zvichiitika? Chikonzero chacho ndechei?

Chirwere cheTay-Sachs chinokonzerwa nekuchinja kwemajini kunonzi HEXA . Zvichitaurwa zviri nyore, kuchinja kudiki kwemajini.

Majini aya anopa mirairo kumasero ese ari mumuviri wedu. Jini reHEXA rinopa mirairo yekugadzira enzyme inonzi `hexosaminidase A` yatakambotaura nezvayo. Kana jini racho rikachinja, enzyme iyi haigadzirwe. Ipapo mafuta iwayo ane chepfu anoungana mumasero etsinga oaparadza.

Izvi zvingagarwa nhaka sei nemwana?

Izvi zvakaoma kunzwisisa, asi zvakakosha zvikuru. Chirwere cheTay-Sachs chinogara nhaka nenzira ye autosomal recessive pattern. Izvi zvinoreva kuti kuti mwana awane chirwere ichi, anofanira kugara nhaka iyi gene yeHEXA yakachinja kubva kuna amai nababa vake.

Funga nezvazvo nenzira iyi. Munhu wese ane makopi maviri ejini rega rega. Rimwe rakabva kuna amai vake, uye rimwe rakabva kuna baba vake.

• Ndiani anotakurwa nechirwere ichi?: Munhu ane chirwere ichi munhu ane kopi imwe chete yegene reHEXA rine hutano uye imwe kopi yacho yakachinja. Vanhu ava havaratidzi chirwere ichi kana kuratidza zviratidzo nekuti kopi ine hutano yegene iyi inogadzira enzyme inodiwa. Zvisinei, vanogona kupa gene iri rakachinja kuvana vavo.

Zvino, tarisa zvinogona kuitika kumwana kana vabereki vese vari ivo vane chirwere ichi :

• Pane mukana we25% (mumwe chete pavana) wekuti mwana achagara nhaka majini ane hutano kubva kuvabereki vese. Ipapo mwana achava neutano hwakanaka kwete mutakuri wechirwere ichi.
• Pane mukana we50% (mumwe chete pavaviri) wekuti mwana achagamuchira jini rakachinja kubva kune mumwe mubereki uye jini rine hutano kubva kune mumwe mubereki . Mwana wacho achava mutakuri, asi haazove nechirwere ichi.
• Pane mukana we25% (mumwe chete pavana) wekuti mwana achagara nhaka majini ese akachinja kubva kuvabereki vese . Mwana iyeye achabata chirwere cheTay-Sachs.

Nzira yekuziva sei chirwere ichi?

Kana chiremba achifungidzira kuti ane chirwere cheTay-Sachs, anonyanya kuongorora ropa kuti asimbise chirwere chacho.

• Kuongororwa kweropa: Muenzaniso weropa remwana unotorwa uye huwandu hweenzyme inonzi `hexosaminidase A` hunoyerwa. Mwana ane chirwere cheTay-Sachs ane huwandu hwakaderera kwazvo kana kuti haana huwandu hweenzyme iyi.
• Kuongororwa kwemaziso: Chiremba achaongorora maziso emwana uye achaongorora nzvimbo yakatsvuka seruvara rwecherry yatakambotaura.

Izvi zvinogona kuonekwa here panguva yekuzvitakura?

Ehe. Kune bvunzo mbiri dzakakosha dzinogona kuona chirwere ichi nguva isati yakwana panguva yekuzvitakura. Izvi zvinowanzoitirwa vabereki vari panjodzi huru yekubata chirwere ichi.

1. Amniocentesis:Muenzaniso wemvura yeamniotic yakakomberedza mwana ari mudumbu unotorwa woongororwa.

2. Chorionic Villus Sampling (CVS): Kanyama kadiki kanotorwa kubva muplacenta koongororwa.

Miedzo iyi yese inotarisa huwandu hweenzyme inonzi `hexosaminidase A`. Kana huwandu ihwohwo hwakaderera, zvinogona kuonekwa kuti mwana ane chirwere ichi.

Kurapwa uye kutarisirwa kwemwana

Ndinoziva kuti izvi zvinofanira kunge zviri mutoro mukuru kwauri kuti uzvinzwe. Hapana mushonga wechirwere cheTay-Sachs parizvino. Zvisinei, pane zvakawanda zvaunogona kuita kuti ubatsire mwana wako kuti asanyanya kurwadziwa uye kusagadzikana uye kuti agare akasununguka sezvinobvira. Izvi zvinonzi rubatsiro rwekutsigira .

• Matambudziko ekufema: Vana ava vanogona kunetseka nekumedza, izvo zvinogona kukonzera hutachiona hwemapapu nguva nenguva. Mishonga, zvishandiso zvakakosha, uye kuisa mwana panzvimbo yake zvakanaka zvinogona kubatsira.
• Kudya: Sezvo matambudziko ekumedza achiwedzera, chubhu yekudyisa inogona kudiwa.
• Kubatwa nepfari: Mishonga inopiwa kuderedza pfari.
• Kukurudzira kunzwa: Sezvo kunzwa kwemwana kushoma, zvinhu zvakaita semimhanzi yakapfava, hwema, uye matoyi akapfava zvinogona kupa nyaradzo kumwana.

Unofanira kuona chiremba rini?

• Kana uchironga kuva nemwana: Zvakakosha kutsvaga mazano ezvemajini usati wava nemwana, kunyanya kana iwe kana mumwe wako ane nhoroondo yemhuri yechirwere cheTay-Sachs, kana kana uchifungidzira kuti mese mungave muine chirwere ichi. Bvunza chiremba wako kuti akupe mazano panyaya iyi.
• Munguva yekuzvitakura: Kana muine kusava nechokwadi kana kunetseka nezveutano hwemwana wenyu, kurumidzai kuonana nachiremba wenyu.
• Kana mukaona dambudziko pakukura kwemwana wenyu: Kana mukaona kuti mwana wenyu haasi kuita zvinhu zvaaifanira kunge achiita pazera rake (sekukunguruka, kugara), taurai nachiremba wevana nezvenyaya iyi.

Tay-Sachs chirwere chinoshungurudza zvikuru. Asi nekuziva nezvazvo, kunzwisisa njodzi dziripo, uye kutsvaga kuongororwa kwemajini nekukurumidza kana zvichidikanwa, tinogona kudzivirira kurwadziwa kwemoyo mune ramangwana.