Mwana wenyu ane zviratidzo izvi here? Ngatitaurei nezve Ataxia-Telangiectasia (AT)!

Mwana wako mudiki anogumburwa kakawanda kupfuura vamwe vana paanenge achifamba here, kana kuti anoita seanonetseka kuchengetedza kuenzana kwake? Dzimwe nguva ane dandemutande diki dzvuku remadandemutande pameso ake kana pamatama ake here? Izvi zvinhu zvidiki zvatinomboregeredza, asi zvinogona kunge zviri zviratidzo zvekutanga zvechirwere chemajini chisingawanzoitiki chinonzi `Ataxia-Telangiectasia (AT). Saka, kunyangwe iyi iri nyaya yakaoma, ngatitaurei nezvayo nenzira iri nyore yaunogona kunzwisisa.

Chii chaizvo chinonzi `Ataxia-Telangiectasia (AT)`?

Zvichitaurwa zviri nyore, `Ataxia-Telangiectasia (AT),` inozivikanwawo nevamwe se`Louis-Bar Syndrome,` chirwere chisingawanzoitika mumajini chinokanganisa tsinga dzedu, network yetsinga dzinotakura mashoko kubva kuuropi, musana, uye mumuviri wese, uye immune system, iyo inodzivirira muviri wedu kubva kuzvirwere.

Ichi chirwere chinonzi `(neurodegenerative)`. Izvi zvinoreva kuti, nekufamba kwenguva, masero ari mutsinga dzedu anopera simba zvishoma nezvishoma, uye mashandiro awo anoderera. Funga nezvazvo semuchina waimboshanda zvakanaka unokwegura zvishoma nezvishoma, uye zvikamu zvinopera zvorega kushanda. Kana masero aya etsinga asina simba, chirwere chinonzi `(ataxia)` chinoitika, umo muviri unorasikirwa nechiyero pazera diki uye mafambiro anova asina kurongeka. Ndosaka "ataxia" ichinzi kudaro.

Chimwe chiratidzo chikuru i telangiectasia. Izvi zvinoitika kana tsinga dzeropa diki tsvuku dzakaita seshinda dzichionekwa pazvichena zvemaziso, uye dzimwe nguva pamatama nepanzeve. Izvi hazviwanzo rwadza, asi chiratidzo chechirwere.

Ndiani anogona kuva nechirwere ichi?

`Ataxia-Telangiectasia (AT)` inokonzerwa nekuchinja kwemajini, kureva kuti, `gene mutation` . Munhu wese anogona kugara nhaka iyi. Asi unozviziva sei? Chirwere ichi chinoitika chete kana mwana akagamuchira kopi yakachinja yejini iri re`ATM` kubva kuna amai nababa. Mukurapa, tinoidaidza kuti nhaka iyi `(autosomal recessive)`.

Fungidzira kuti vabereki vese vane kopi imwe chete yejini iri rakachinja. Saka havazoratidzi zviratidzo, nekuti makopi maviri ejini rakachinja anodiwa kuti chirwere ichi chiwedzere. Asi ivo vachave "vatakuri" vejini iri. Saka, mwana anobva kuvabereki vaviri vane mukana wekugamuchira makopi ese ejini iri rakachinja. Kana izvozvo zvikaitika, mwana achava nechirwere che'AT'. Zvichienderana nehuwandu hweUnited States, vanhu vanosvika 1% munyika iyoyo vanotakura kopi iyi yakachinja yejini re'ATM'.

Chirwere che `Ataxia-Telangiectasia (AT)` chakajairika zvakadii?

Ichi chirwere chisingawanzoitiki . Pasi rose, zvinofungidzirwa kuti munhu mumwe chete pavanhu 40,000 kusvika 100,000 ane chirwere ichi. Izvi zvinoreva kuti hachiwanzoitiki muSri Lanka zvakare.

Chirwere ichi chinokanganisa sei muviri wemwana?

Ataxia-Telangiectasia (AT) chirwere chinokura zvishoma nezvishoma nekufamba kwenguva.Kureva kuti, zviratidzo zvinowedzera nekufamba kwenguva. Mwana ane `AT` anowanzotanga kuratidza zviratidzo pazera remakore mashanu.

Zviratidzo zvekutanga zvinoonekwa matambudziko ekufamba.

• Pandinofamba , ndinonzwa sekunge makumbo angu ari kuvhiringika uye ndinorasikirwa nekugadzikana kwangu .
• Makumbo ari kugwinha-gwinha zvisizvo.
• Tsandanyama dzinongonyemwerera.
• Pandinotaura , mashoko angu anovhiringika, uye zvinoita sekunge ndiri kunetseka kutaura .

Mwana wako paanokura opinda muhudiki, angangoda chimwe chinhu chinobatsira pakufamba, chakadai sewiricheya, kuti afambe. Ndinonzwisisa kuti izvi zvinogona kuomera vabereki, asi zvakakosha kuziva nezvemamiriro ezvinhu aya.

Ndezvipi zviratidzo zve `Ataxia-Telangiectasia (AT)`?

Sezvatakambotaura, pane zviratidzo zviviri zvikuru zvechirwere ichi:

1. Kuoma kwekubatanidza mafambiro (ataxia) : Kuoma kwekufamba, kurasikirwa nekuenzana, nezvimwewo.

2. Mitsipa midiki mitsvuku yeropa inoonekwa mumaziso neganda (telangiectasia) : Idzi dzinowanzoonekwa mumachena emaziso, matama, nenzeve.

Pamusoro peizvi, zvimwe zviratidzo zvine chekuita nekufamba zvinogona kuonekwa muchimiro che'AT':

• Kuomerwa nekufamba (ichi ndicho chimwe chezviratidzo zvikuru zvinoonekwa pakutanga).
• Kusakwanisa kufambisa maziso kubva kurutivi kuenda kurutivi ``oculomotor apraxia`` kana mafambiro asina kujairika emaziso ``nystagmus``.
• Kufamba-famba kusingatarisirwi, kusvetuka-svetuka (chorea).
• Kugwinha kwetsandanyama (myoclonus).
• Kurasikirwa zvishoma nezvishoma kwebasa retsinga (neuropathy).
• Kutaura kusina kunyatsojeka : Vana vazhinji vanonetseka kutaura mazwi nemazvo uye kushandisa kusimbiswa kwakakodzera mukutaura kwavo. Nekuda kweizvozvo, kutaura kwavo hakunzwike sekutaura "kwakajairika".
• Matambudziko ekuenzanisa .
• Kunonoka kukura kana kusashanda zvakanaka kwehurongwa hwe endocrine: Dambudziko iri rinogona kuwedzerwa nekutapukirwa kakawanda uye kuchinja kwemahormone ekukura.

Ataxia-Telangiectasia (AT) chirwere chinopedza simba remuviri wemunhu . Kushaya simba uku kunowedzera nekufamba kwenguva. Zviratidzo zvemuviri wemunhu usina simba zvinosanganisira:

• Kuitika kakawanda kwezvirwere zvemapapu zvisingaperi.
• Kunzwa kuneta nguva dzese (kuneta).
• Kurwara nekukurumidza kupfuura vamwe.
• Kutapukirwa nezvirwere kakawanda uye kupora kwemaronda zvishoma nezvishoma.
• Kuwanda kwenjodzi yekubatwa nekenza dzakadai se'Leukemia' (kenza yeropa) kana 'Lymphoma' (kenza yema lymph nodes).
• Kunzwa zvakanyanya kana munhu akasangana nemwaranzi (semuenzaniso X-rays).

Chimwe chiratidzo kuwedzera kwehuwandu hwepuroteni inonzi `alpha-fetoprotein (AFP)` muropa. Chikonzero chaicho chekuwedzera uku kwehuwandu hwe`AFP` hachizivikanwe.

Chii chinokonzera `Ataxia-Telangiectasia (AT)`?

Chirwere ichi chinokonzerwa nekuchinja kwemajini kunonzi "ATM".

Zvino ngationei kuti majini aya nemakromosomu aya chii. Fungidzira kuti kune bhuku guru rine mirairo yese yekuti muviri wedu ukure. Bhuku iroro rinonzi `DNA`. Zvitsauko zvebhuku iri re`DNA` zvinonzi `majini`. Iri `DNA` rinochengetwa mukati mezvinhu zvinonzi `makromosomu`. Kazhinji, munhu ane makromosomu makumi mana nematanhatu, akarongwa muzvikamu makumi maviri nematatu. Tinowana rimwe kubva kuna amai vedu uye rimwe kubva kuna baba vedu kuti tigadzire zvikamu izvi zvekromosomu.

Kana masero ari munhengo dzekubereka aumbwa, masero aya anopatsanuka uye anoita makopi awo. Dzimwe nguva, semuchina wekudhinda unovhara bepa, masero aya anogona kukanganisa majini avo, anonzi mutations. Mamwe makopi emirairo akagadzirwa sezvaari chaizvo, uye mamwe anogadzirwa zvisiri izvo.

Sezvatakambotaura, jini iri rakachinja rinogara nhaka nenzira ye "autosomal recessive". Izvi zvinoreva kuti amai nababa vese ndivo vanotakura jini iri rakachinja re "ATM" gene, uye mwana acharwara kana vese vakagara nhaka jini rakachinja. Kana richibva kumubereki mumwe chete, mwana achangogara ari mutakuri uye haazoratidzi zviratidzo.

Jini iri re'ATM' rakakosha zvikuru. Nekuti rinogadzira mapuroteni anoudza muviri kuti ungagadzirisa sei 'DNA' yedu kana yakuvara. Mapuroteni e'ATM' akafanana nevaongorori. Ndivo vanowana masero akakuvara nezvidimbu zve'DNA' vounza '(enzymes)' zvinodiwa kuti vagadzirise. Imhaka yeiyi nzira yekugadzirisa 'DNA' kuti mapeji ebhuku remirayiridzo yemuviri wedu atenderere zvakanaka.

Uyewo, puroteni ye'ATM' inoudza sisitimu yedu yetsinga uye sisitimu yekudzivirira muviri kuti, "Unofanira kushanda nemazvo." Saka, kana paine shanduko mujini re'ATM', basa repuroteni ye'ATM' rinoderera nekufamba kwenguva. Izvi zvinoreva kuti masero anorasikirwa nezvikamu zvebhuku rawo remirayiridzo, uye haagone kushanda nemazvo. Ndicho chikonzero chikuru chezviratidzo zve'Ataxia-Telangiectasia (AT)'. Wanzwisisa here?

Chirwere che'Ataxia-Telangiectasia (AT)' chinoonekwa sei?

Chiremba achatanga nekuongorora zviratidzo zvako uye kuita bvunzo dzemifananidzo uye bvunzo dzeropa kuti aone kushanduka kwemajini kuri kukonzera zviratidzo zvako. Chiremba wako achaongororawo zvakadzama hutano hwemwana wako uye nhoroondo yezveutano hwemhuri kuti aone kana uine chirwere ichi. Kana uchifungidzira kuti une AT, zvakakosha kuona chiremba wezvirwere kuti akuongorore zvizere.

Ndezvipi zviedzo zvinoshandiswa kuongorora `Ataxia-Telangiectasia (AT)`?

Kune nzira dzakawanda dzekuongorora chirwere ichi:

• Kuongororwa kwemajini : Uku kuongororwa kweropa kunogona kuratidza shanduko chaiyo yemajini iri kukonzera zviratidzo zvako.
• Magnetic Resonance Imaging (MRI) : MRI scan inotora mifananidzo yeuropi uye inotarisa zviratidzo zvemasero etsinga kana masero ecerebellum asina simba (cerebellar atrophy). Ichi chiratidzo chekuti ataxia iri kuwedzera kuipa.
• Karyotyping : Iyi iongororo yeropa zvakare. Inoongorora machromosomes kuti ione mamiriro ezvinhu emajini.
• Kuongororwa kweropa : Kuongororwa kweropa kunoitwa kuti kuonekwe kuti mazinga e alpha-fetoprotein (AFP) akakwira here.

Munyika dzakawanda, kuongororwa kwevana vacheche kunoshandiswa kuona chirwere cheAtaxia-Telangiectasia (AT). Zvikasadaro, vanachiremba vanowanzoongorora chirwere ichi vachiri vadiki.

Ndeipi mishonga yekurapa `Ataxia-Telangiectasia (AT)`?

Kurapa kwe `Ataxia-Telangiectasia (AT)` ndekwekungodzora zviratidzo . Hapana mushonga wechirwere ichi parizvino . Nzira dzekurapa dzinosarudzwa dzega dzega, zvichireva kuti dzinogona kusiyana kubva pamwana kuenda kumwana. Dzinogona kusanganisira:

• Kuti udzore telangiectasia, inova network yetsinga dzeropa dzinoonekwa paganda , dzivisa kupiswa nezuva zvakanyanya .
• Kana kenza ikatanga , chemotherapy inoshandiswa.
• Kurapa kwemuviri kusimbisa tsandanyama.
• Kupihwa majekiseni egammaglobulin ezvirwere zvekufema.
• Kurapwa ne immunoglobulin kuti kubatsire immune system isina simba.
• Kutora mishonga inorwisa utachiona kurapa hutachiona.
• Kutora mishonga yakaita seDiazepam kudzora matambudziko ekutaura uye kufamba kwetsandanyama kusingatarisirwi.

Ndingaderedza here njodzi yemwana wangu yekubatwa nechirwere che 'Ataxia-Telangiectasia (AT)'?

Nekuti `Ataxia-Telangiectasia (AT)` inokonzerwa nekuchinja kwemajini, hapana nzira yekudzivirira kuti zvisaitike . Zvisinei, kazhinji, pane zvinhu zvaunogona kuita kuderedza njodzi yako yekuva nemwana ane chirwere chemajini, zvakaita sekudzivisa kusvuta uye kudzivirira kusangana nemakemikari. Kana uchironga kuva nepamuviri, zvakanaka kutaura nachiremba wako nezvemazano ezvemajini kuti unzwisise njodzi yako yekuva nemwana ane chirwere chemajini senge `Ataxia-Telangiectasia (AT)`.

Chii chandinofanira kutarisira kana ndine mwana ane `AT`?

Ataxia-Telangiectasia (AT) chirwere chinowedzera kuipa nekufamba kwenguva. Zviratidzo zvishoma zvinokanganisa kufamba kwemwana zvinotanga achiri mudiki, pamwe chete netsinga dzeropa dzinoonekwa paganda. Mwana paanokura, masero ake anorasikirwa nekugona kwake kushanda zvichienderana nebhuku remirayiridzo. Izvi zvinoreva kuti zviratidzo zvemwana zvinova zvakanyanya, uye angangoda kushandisa wiricheya pavanosvika pakukura.

Chimwe chiratidzo chechirwere ichi kushomeka kwemasoja emuviri, saka kunyangwe hutachiona hudiki hunogona kukanganisa hutano hwemwana zvakanyanya.

Kusasimba kwemasoja emuviri kunowedzerawo njodzi yekubatwa nekenza dzakadai seleukemia kana lymphoma. Zvisinei, kune mishonga yekuvandudza mashandiro emasoja emuviri, izvo zvinogona kubatsira kuchengetedza mwana wako aine hutano.

Nguva yekurarama yeAT inosiyana zvichienderana nekuoma kwezviratidzo. Zvisinei, vanhu vazhinji vane chirwere ichi vanorarama kusvika vakura (anenge makore makumi matatu, avhareji yemakore makumi maviri nemashanu). Kurapwa kwezvirwere zvakajairika nekukurumidza uye kuongororwa kwegomarara kunogona kubatsira kuwedzera nguva yekurarama.

Pane mushonga we `Ataxia-Telangiectasia (AT)` here?

Kwete, hapana mushonga we `Ataxia-Telangiectasia (AT)` parizvino . Kurapa kwacho kunovavarira kuderedza zviratidzo, kuita kuti hupenyu hwemunhu wese ane chirwere huve nyore, uye kubatsira kuwedzera hupenyu hwake.

Ndingatarisira sei mwana wangu ne `AT`?

Kana ukaziva kuti mwana wako ane `Ataxia-Telangiectasia (AT)` zvinogona kuoma kunzwisisa mamiriro ese echirwere ichi uye kuziva nzira chaiyo yekubatsira mwana wako. Chiremba wemwana wako achapa hurongwa hwekurapa hwakagadzirirwa zviratidzo zvake, uye iye achavepo kuti apindure chero mibvunzo yaungave nayo.

Chiremba wako anogonawo kukukurudzira kuti usangane nemupi wezano wezvemajini . Vapi vezano vezvemajini inyanzvi dzezvemajini. Vanogona kubatsira mhuri yako kudzidza zvakawanda nezveAtaxia-Telangiectasia (AT) uye kubatsira mwana wako kurarama hupenyu hwakanaka uye hunogutsa. Vanogonawo kukubatsira kuti utsungirire kushushikana kwaungave uri kusangana nako sezvo mwana wako achiongororwa chirwere.

Ndinofanira kuona chiremba rini?

Nekuti Ataxia-Telangiectasia (AT) inokanganisa masoja emuviri, kana mwana wako akaratidza zviratidzo zvehutachiona , unofanira kuona chiremba nekukasika kuti arapwe. Zviratidzo zvehutachiona zvinogona kusanganisira:

• Kuchinja ruvara rweganda munzvimbo ine chirwere.
• Kutonhora.
• Kukosora.
• Kupindwa nechando.
• Kunzwa kurwadziwa kana kukuvara mune imwe nhengo yemuviri kana muviri wese.
• Kuzvimba pane imwe nzvimbo mumuviri.
• Kushaya mweya.
• Kurutsa kana manyoka.

Mibvunzo ipi yandinofanira kubvunza chiremba wangu?

• Ndinofanira kuona chiremba wemuviri kuti ndivandudze simba remhasuru dzemwana wangu here?
• Pane mimwe migumisiro yakaipa here kubva mukurapwa kwandakapihwa pazviratidzo zvemwana wangu?
• Kana ndiri mutakuri wejini rakachinja, ndiri panjodzi here yekuva nemwana ane `Ataxia-Telangiectasia (AT)`?

Kunzwisisa kuongororwa kwemwana wako ne `Ataxia-Telangiectasia (AT)` kunogona kuva chiitiko chakaoma uye chinoshungurudza kwauri semuchengeti. Zvisinei, chiremba wako achakupa hurongwa hwakanaka hwekurapa hwakagadzirirwa zviratidzo zvemwana wako. Chinhu chakakosha ndechekupa mwana wako rudo nerutsigiro rwaanoda muhupenyu hwake hwese. Zvakare, ziva chero zviratidzo zvitsva zvinoonekwa, zvirapwe nekukurumidza, uye edza kuwedzera hupenyu hwemwana wako zvakanyanya sezvinobvira.

## Zvinhu zvakakosha zvekurangarira (Mharidzo Yekuenda Kumba)

Ataxia-Telangiectasia (AT) chirwere chisingawanzoitiki chemajini chinogona kukanganisa zvikuru mwana nemhuri yake. Zvakajairika kuti unzwe kutya uye kuzvidya mwoyo paunodzidza nezvazvo.

• Zvakakosha kuziva zviratidzo zvekutanga : Tsvaga rubatsiro rwechiremba kana ukaona shanduko mukufamba kwemwana wako, kuenzana, kuoma kutaura, kana mavanga matsvuku asingawanzoonekwi paganda/maziso.
• Kunyange hazvo pasina mushonga weizvi, zviratidzo zvinogona kugadziriswa : kurapwa kwakakodzera uye mabasa ekutsigira zvinogona kubatsira kuvandudza hupenyu hwemwana uye kuwedzera hupenyu hwake.
• Chengetedza dziviriro yemuviri wako : Vana vane `AT` vari panjodzi huru yekuwana hutachiona. Saka ziva zviratidzo zvehutachiona uye tsvaga kurapwa nekukurumidza.
• Hausi wega : Iwe nemwana wako munogona kuwana rutsigiro rwamunoda kubva kuna vanachiremba, vanachipangamazano vemajini, uye mapoka ekutsigirana.
• Rudo nerutsigiro ndizvo zvinhu zvinonyanya kukosha : Rudo rwenyu, mwoyo murefu, nerutsigiro ndizvo zvinhu zvinonyanya kukosha kumwana wenyu panguva ino yerwendo.

Ndinovimba ruzivo urwu rwakubatsira kunzwisisa dambudziko iri rakaoma. Kana uine mimwe mibvunzo, usazeza kutaura nachiremba.

Ataxia -telangiectasia, AT, Louis-Bar syndrome, zvirwere zvemajini, tsinga, immune system, matambudziko ekufamba, zvirwere zvisingawanzoitiki, zvirwere zvevana