Ingabe ingane yakho inalezi zimpawu? Ake sixoxe nge-'Ataxia-Telangiectasia (AT)'!

Ingabe ingane yakho encane ikhubeka kaningi kunezinye izingane lapho ihamba, noma ibonakala inenkinga yokugcina ibhalansi yayo? Ingabe ngezinye izikhathi inezinsika ezincane ezibomvu ze-spider webs emehlweni ayo amhlophe noma ezihlathini zayo? Lezi yizinto ezincane esizishaya indiva ngezinye izikhathi, kodwa zingaba izimpawu zokuqala zesimo esingavamile sezakhi zofuzo esibizwa ngokuthi i-'Ataxia-Telangiectasia (AT). Ngakho-ke, nakuba lesi kuyisihloko esiyinkimbinkimbi kancane, ake sixoxe ngaso ngendlela elula ongayiqonda.

Iyini ngempela i-`Ataxia-Telangiectasia (AT)`?

Kalula nje, i-'Ataxia-Telangiectasia (AT),' eyaziwa nangokuthi i-'Louis-Bar Syndrome,' yisimo esingavamile kakhulu sezakhi zofuzo esithinta kakhulu uhlelo lwethu lwezinzwa, inethiwekhi yezinzwa ezithwala imiyalezo evela ebuchosheni, emgogodleni, nasemzimbeni wonke, kanye nesistimu yomzimba yokuzivikela, evikela umzimba wethu ezifweni.

Lesi yisimo `(se-neurodegenerative)`. Okusho ukuthi, ngokuhamba kwesikhathi, amaseli ohlelweni lwethu lwezinzwa ayawohloka kancane kancane, futhi umsebenzi wawo uyawohloka. Cabanga ngakho njengomshini owawusebenza kahle kancane kancane uyaguga, bese izingxenye ziguga futhi ziyeke ukusebenza. Lapho la maseli ezinzwa eba buthakathaka, kuvela isimo esibizwa ngokuthi `(ataxia)`, lapho umzimba ulahlekelwa khona ibhalansi usemncane futhi ukunyakaza kuba okungajwayelekile. Yingakho i-"ataxia" ibizwa kanjalo.

Esinye isibonakaliso esiyinhloko yi-telangiectasia. Lokhu kwenzeka lapho kuvela imithambo yegazi emincane ebomvu efana nentambo ezindaweni ezimhlophe zamehlo, futhi ngezinye izikhathi ezihlathini nasezindlebeni. Lokhu ngokuvamile akubuhlungu, kodwa kuyisibonakaliso sesifo.

Ubani ongahlakulela lesi simo?

I-`Ataxia-Telangiectasia (AT)` ibangelwa ushintsho kuma-gene, okungukuthi, `ukuguquka kwezakhi zofuzo` . Noma ubani angakuthola lokhu njengefa. Kodwa wazi kanjani? Lesi sifo senzeka kuphela uma ingane ithola ikhophi eguquliwe yalesi sakhi sofuzo se-`ATM` kumama nakubaba. Kwezokwelapha, lokhu sikubiza ngokuthi `(autosomal recessive)` njengefa.

Ake sithi bobabili abazali banekhophi eyodwa kuphela yalesi sakhi sofuzo esiguquliwe. Khona-ke ngeke babonise izimpawu, ngoba kudingeka amakhophi amabili esakhi sofuzo esiguquliwe ukuze kuthuthukiswe lesi sifo. Kodwa bazoba "abathwali" balesi sakhi sofuzo. Ngakho-ke, ingane evela kubazali ababili abangabathwali inethuba lokuthola womabili amakhophi alesi sakhi sofuzo esiguquliwe. Uma lokho kwenzeka, ingane izoba nesimo se-'AT'. Ngokwezibalo e-United States, cishe u-1% wabantu kulelo zwe bangabathwali balesi sakhi sofuzo esiguquliwe se-'ATM'.

Ivame kangakanani i-`Ataxia-Telangiectasia (AT)`?

Lesi yisifo esingavamile kakhulu . Emhlabeni wonke, kulinganiselwa ukuthi cishe umuntu oyedwa kwabangu-40,000 kuya kwabangu-100,000 unalesi sifo. Lokhu kusho ukuthi asivamile naseSri Lanka.

Lesi sifo sithinta kanjani umzimba wengane?

I-Ataxia-Telangiectasia (AT) yisifo esiba sibi kancane kancane ngokuhamba kwesikhathi.Okusho ukuthi, izimpawu ziyanda ngokuhamba kwesikhathi. Ingane ene-'AT' ivame ukuqala ukukhombisa izimpawu cishe eminyakeni emi-5.

Izimpawu zokuqala ezibonakala yizinkinga zokunyakaza.

• Uma ngihamba , kuzwakala sengathi imilenze yami iyaphambana futhi ngilahlekelwa yibhalansi yami .
• Izitho zomzimba ziyanyakaza ngendlela engavamile.
• Imisipha ivele inyakaze.
• Uma ngikhuluma , amazwi ami ayaxaka, futhi kuba sengathi nginenkinga yokukhuluma .

Njengoba ingane yakho ikhula futhi ingena ebusheni, ingadinga usizo lokuhamba, njengesitulo sabakhubazekile, ukuze ikwazi ukuhambahamba. Ngiyaqonda ukuthi lokhu kungaba nzima kubazali ukusingatha, kodwa kubalulekile ukuqaphela lesi simo.

Ziyini izimpawu ze-'Ataxia-Telangiectasia (AT)'?

Njengoba sesixoxile ngaphambili, kunezimpawu ezimbili eziyinhloko zalesi sifo:

1. Ubunzima bokuxhumanisa ukunyakaza (i-ataxia) : Ubunzima bokuhamba, ukulahlekelwa ibhalansi, njll.

2. Imithambo yegazi emincane ebomvu evela emehlweni nasesikhumbeni (i-telangiectasia) : Lokhu kuvame ukubonakala ezindaweni ezimhlophe zamehlo, ezihlathini nasezindlebeni.

Ngaphezu kwalokhu, izimpawu eziningi ezihlobene nokunyakaza zingabonakala esimweni se-'AT':

• Ubunzima bokuhamba (lokhu kungenye yezimpawu eziyinhloko ezibonakala kuqala).
• Ukungakwazi ukuhambisa amehlo kusukela ohlangothini olulodwa kuya kolunye ``oculomotor apraxia`` noma ukunyakaza kwamehlo okungavamile ``nystagmus``.
• Ukunyakaza okungahleliwe, okuguquguqukayo (i-chorea).
• Ukudikiza kwemisipha (i-myoclonus).
• Ukulahlekelwa kancane kancane komsebenzi wezinzwa (i-neuropathy).
• Inkulumo engacacile : Izingane eziningi zinenkinga yokuphimisela amagama ngendlela efanele nokusebenzisa ukugcizelela okufanele enkulumweni yazo. Ngenxa yalokho, inkulumo yazo ayizwakali njengenkulumo "evamile".
• Izinkinga zokulinganisela .
• Ukukhubazeka kokukhula noma ukungasebenzi kahle kwesistimu ye-endocrine: Lesi simo singaba sibi kakhulu ngenxa yokutheleleka okuvamile kanye noshintsho kuma-hormone okukhula.

I-Ataxia-Telangiectasia (AT) yisifo esenza buthaka isimiso somzimba somuntu sokuzivikela . Lobu buthakathaka buyanda ngokuhamba kwesikhathi. Izimpawu zesimiso somzimba sokuzivikela esibuthakathaka zifaka:

• Ukwenzeka njalo kwezifo zamaphaphu ezingamahlalakhona.
• Ukuzizwa ukhathele ngaso sonke isikhathi (ukukhathala).
• Ukugula ngokushesha kunabanye.
• Ukutheleleka njalo kanye nokuphola kancane kwamanxeba.
• Ingozi eyengeziwe yokuthola umdlavuza ofana ne-'Leukemia' (umdlavuza wegazi) noma i-'Lymphoma' (umdlavuza wama-lymph node).
• Ukuzwela okukhulu ekuchayekeni emisebeni (isb. imisebe ye-X).

Esinye isibonakaliso ukwanda kwezinga leprotheyini ebizwa ngokuthi i-`alpha-fetoprotein (AFP)` egazini. Imbangela eqondile yalokhu kwanda kwamazinga e-`AFP` ayaziwa.

Yini ebangela i-'Ataxia-Telangiectasia (AT)'?

Lesi sifo sibangelwa ukuguquka kwezakhi zofuzo okubizwa ngokuthi ``ATM''.

Manje ake sibone ukuthi la ma-gene nama-chromosome anjani kalula. Cabanga ukuthi kukhona incwadi enkulu enayo yonke imiyalelo yokuthi imizimba yethu ikhule. Leyo ncwadi ibizwa ngokuthi 'i-DNA'. Izahluko zale ncwadi ethi 'i-DNA' zibizwa ngokuthi 'ama-gene'. Le 'DNA' igcinwa ngaphakathi kwezinto ezibizwa ngokuthi 'ama-chromosome'. Ngokuvamile, umuntu unama-chromosome angu-46, ahlelwe ngamabhangqa angu-23. Sithola elilodwa kumama wethu kanti elinye kubaba wethu ukuze sakhe la mabhangqa e-chromosome.

Uma kwakheka amangqamuzana ezithweni zokuzala, lawa maseli ayahlukana futhi enze amakhophi awo. Ngezinye izikhathi, njengomshini wokunyathelisa ofaka iphepha, lawa maseli angenza amaphutha ezizakhini zawo zofuzo, okuthiwa ukuguqulwa kwezakhi zofuzo. Amanye amakhophi emiyalelo enziwa njengoba enjalo, kanti amanye enziwa ngendlela engafanele.

Njengoba sishilo ngaphambili, lesi sakhi sofuzo esiguquliwe sizuzwe njengefa ngendlela ethi ``autosomal recessive``. Lokhu kusho ukuthi bobabili umama nobaba bangabathwali balesi sakhi sofuzo esithi ``ATM`` esiguquliwe, futhi ingane izoba nalesi sifo uma bobabili bezuza ifa lesi sakhi sofuzo esiguquliwe. Uma sivela kumzali oyedwa kuphela, ingane izoba ngumthwali kuphela futhi ngeke ibonise izimpawu.

Le gene ye-'ATM' ibaluleke kakhulu. Ngoba ikhiqiza amaprotheni atshela umzimba ukuthi ungayilungisa kanjani i-'DNA' yethu uma yonakele. Amaprotheni e-'ATM' afana nabaphenyi. Yiwo athola amangqamuzana alimele kanye nezingcezu ze-'DNA' bese eletha '(ama-enzyme)' adingekayo ukuze azilungise. Kungenxa yale nqubo yokulungisa i-'DNA' ukuthi amakhasi encwadi yemiyalelo yomzimba wethu aphenduka kahle.

Futhi, iphrotheni ethi `ATM` itshela isimiso sethu sezinzwa kanye nesimiso somzimba sokuzivikela, "Kudingeka usebenze kahle." Ngakho-ke, uma kukhona ukuguquka kwezakhi zofuzo ze-`ATM`, umsebenzi wephrotheni ethi `ATM` uyancipha ngokuhamba kwesikhathi. Lokho kusho ukuthi amaseli alahlekelwa yizingxenye zencwadi yawo yemiyalelo, futhi awakwazi ukusebenza kahle. Leso yisona sizathu esiyinhloko sezimpawu ze-`Ataxia-Telangiectasia (AT)`. Uyaqonda?

Itholakala kanjani i-`Ataxia-Telangiectasia (AT)`?

Udokotela uzoqala ngokuhlola izimpawu zakho bese enza izivivinyo zezithombe kanye nokuhlolwa kwegazi ukuze athole ukuguquka kwezakhi zofuzo okubangela izimpawu zakho. Udokotela wakho uzophinde ahlole ngokuningiliziwe impilo yengane yakho kanye nomlando wezokwelapha womndeni ukuze athole ukuthi unayo yini imbangela. Uma usola ukuthi une-AT, kubalulekile ukubona udokotela wezifo zomzimba ukuze ahlolwe ngokugcwele.

Yiziphi izivivinyo ezisetshenziswa ukuxilonga i-'Ataxia-Telangiectasia (AT)'?

Kunezinhlobo eziningana zokuhlolwa ezingasiza ekuxilongeni lesi sifo:

• Ukuhlolwa kofuzo : Lokhu ukuhlolwa kwegazi okungakhomba ukuguquka kofuzo okubangela izimpawu zakho.
• I-Magnetic Resonance Imaging (MRI) : I-MRI scan ithatha izithombe zobuchopho bese ibheka izimpawu zamangqamuzana ezinzwa noma amangqamuzana e-cerebellum abuthakathaka (i-cerebellar atrophy). Lokhu kuyisibonakaliso sokuthi i-ataxia iya iba yimbi kakhulu.
• I-Karyotyping : Lokhu futhi ukuhlolwa kwegazi. Kuhlola ama-chromosome ukuze kutholakale izimo zofuzo.
• Ukuhlolwa kwegazi : Ukuhlolwa kwegazi kwenziwa ukuze kuhlolwe amazinga aphezulu e-alpha-fetoprotein (AFP).

Emazweni amaningi, ukuhlolwa kwezinsana ezisanda kuzalwa kusetshenziselwa ukuthola isimo i-Ataxia-Telangiectasia (AT). Ngaphandle kwalokho, odokotela bavame ukuxilonga lesi simo besebancane.

Yiziphi izindlela zokwelapha i-'Ataxia-Telangiectasia (AT)'?

Ukwelashwa kwe-'Ataxia-Telangiectasia (AT)' kumane nje ukulawula izimpawu . Akukho ukwelashwa kwalesi sifo okwamanje . Izindlela zokwelapha zihlukaniswa ngazinye, okusho ukuthi zingahluka kuye ngengane. Zingafaka:

• Ukuze ulawule i-telangiectasia, okuyinethiwekhi yemithambo yegazi evela esikhumbeni , gwema ukuchayeka elangeni ngokweqile .
• Uma umdlavuza uvela , kusetshenziswa i-chemotherapy .
• Ukwelashwa ngokomzimba ukuze kuqiniswe imisipha.
• Ukuthola imijovo ye-gammaglobulin yezifo zokuphefumula.
• Ukuthola ukwelashwa nge-immunoglobulin ukusekela isimiso somzimba esibuthakathaka.
• Ukuthatha ama-antibiotic ukwelapha izifo.
• Ukuthatha imithi efana ne-Diazepam ukulawula ubunzima bokukhuluma kanye nokunyakaza kwemisipha okungahleliwe.

Ngingayinciphisa yini ingozi yengane yami yokuthola i-'Ataxia-Telangiectasia (AT)'?

Ngenxa yokuthi i-`Ataxia-Telangiectasia (AT)` ingumphumela wokuguquka kwezakhi zofuzo, ayikho indlela yokukuvimbela ukuthi kungenzeki . Kodwa-ke, ngokuvamile, kunezinto ongazenza ukunciphisa ingozi yokuba nengane enesifo sofuzo, njengokugwema ukubhema nokugwema ukuchayeka kumakhemikhali. Uma uhlela ukukhulelwa, kuwumqondo omuhle ukukhuluma nodokotela wakho mayelana nokwelulekwa kwezakhi zofuzo ukuze uqonde ingozi yakho yokuba nengane enesifo sofuzo njenge-`Ataxia-Telangiectasia (AT)`.

Yini okufanele ngiyilindele uma nginengane ene-'AT'?

I-Ataxia-Telangiectasia (AT) yisifo esiba sibi kakhulu ngokuhamba kwesikhathi. Izimpawu ezincane ezithinta ukunyakaza kwengane yakho ziqala ebuntwaneni, kanye namanethiwekhi emithambo yegazi ebonakalayo esikhumbeni. Njengoba ingane ikhula, amangqamuzana ayo alahlekelwa amandla awo okusebenza ngokwencwadi yemiyalelo. Lokhu kusho ukuthi izimpawu zengane ziba zimbi kakhulu, futhi kungase kudingeke ukuthi isebenzise isihlalo sabakhubazekile lapho ifika ebudaleni.

Esinye isibonakaliso salesi simo ubuthakathaka besimiso somzimba sokuzivikela, ngakho-ke ngisho nokutheleleka okuncane kungaba nomthelela omkhulu empilweni yengane.

Isimiso somzimba esibuthakathaka siphinde sandise ingozi yokuthola umdlavuza ofana ne-leukemia noma i-lymphoma. Kodwa-ke, kunezindlela zokwelapha zokuthuthukisa ukusebenza kwesimiso somzimba, ezingasiza ukugcina ingane yakho iphilile.

Isikhathi sokuphila se- AT siyahlukahluka kuye ngokuthi izimpawu zibucayi kangakanani. Kodwa-ke, abantu abaningi abanalesi sifo baphila baze babe ngabantu abadala (cishe iminyaka engama-30, isilinganiso seminyaka engama-25). Ukwelashwa kusenesikhathi kwezifo ezivamile kanye nokuhlolwa komdlavuza okuvimbelayo kungasiza ekwandiseni isikhathi sokuphila.

Ingabe ikhona ikhambi le-'Ataxia-Telangiectasia (AT)'?

Cha, alikho ikhambi le-'Ataxia-Telangiectasia (AT)' okwamanje . Ukwelashwa kuhlose ukuqeda izimpawu, ukwenza impilo ibe lula kumuntu ngamunye onesifo, nokusiza ukwandisa isikhathi sakhe sokuphila.

Ngingayinakekela kanjani ingane yami nge-'AT'?

Uma uthola ukuthi ingane yakho ine-‘Ataxia-Telangiectasia (AT)’, kungaba nzima ukuqonda uhlobo oluphelele lwalesi simo nokwazi kahle ukuthi ungayisiza kanjani ingane yakho. Udokotela wengane yakho uzokunikeza uhlelo lokwelashwa oluhambisana nezimpawu zayo, futhi izotholakala ukuphendula noma yimiphi imibuzo ongase ube nayo.

Udokotela wakho angase futhi asikisele ukuthi uhlangane nomeluleki wezakhi zofuzo . Abeluleki bezakhi zofuzo bangochwepheshe bezakhi zofuzo. Bangasiza umndeni wakho ufunde kabanzi nge-Ataxia-Telangiectasia (AT) futhi basize ingane yakho iphile impilo ekhululekile neyanelisayo. Bangakusiza futhi ukuthi ubhekane nokucindezeleka okungenzeka ukuthi ubhekene nakho njengoba ingane yakho ithola ukuxilongwa.

Kufanele ngimbone nini udokotela?

Ngenxa yokuthi i-Ataxia-Telangiectasia (AT) ithinta amasosha omzimba, uma ingane yakho ibonisa izimpawu zokutheleleka , kufanele ubone udokotela ngokushesha ukuze uthole ukwelashwa. Izimpawu zokutheleleka zingafaka:

• Ukushintsha kombala wesikhumba endaweni ethelelekile.
• Ukugodola.
• Ukukhwehlela.
• Imfiva.
• Ukuzwa ubuhlungu noma ukulimala engxenyeni eyodwa yomzimba noma emzimbeni wonke.
• Ukuvuvukala endaweni ethile emzimbeni.
• Ukuphelelwa umoya.
• Ukuhlanza noma uhudo.

Yimiphi imibuzo okufanele ngiyibuze udokotela wami?

• Ingabe kufanele ngibone udokotela wezokwelapha ukuze athuthukise amandla emisipha yengane yami?
• Ingabe ikhona imiphumela emibi evela ekwelashweni okunikezwe izimpawu zengane yami?
• Uma ngingumthwali we-gene eguquliwe, ingabe ngisengozini yokuba nomntwana one-`Ataxia-Telangiectasia (AT)`?

Ukuqonda ukuxilongwa kwengane yakho nge-'Ataxia-Telangiectasia (AT)' kungaba yinto enzima kakhulu futhi ecindezelayo kuwe njengomnakekeli. Kodwa-ke, udokotela wakho uzokunikeza uhlelo oluhle lokwelashwa oluhambisana nezimpawu zengane yakho. Into ebaluleke kakhulu ukunikeza ingane yakho uthando nokusekelwa ekudingayo kukho konke ukuphila kwayo. Futhi, qaphela noma yiziphi izimpawu ezintsha ezivelayo, zitholele ukwelashwa ngokushesha, bese uzama ukwandisa impilo yengane yakho ngangokunokwenzeka.

## Izinto ezibalulekile okufanele uzikhumbule (Umyalezo Ofanele Uwuthathe Uhambe Nawe Ekhaya)

I-Ataxia-Telangiectasia (AT) iyisifo esingavamile sofuzo esingaba nomthelela omkhulu enganeni nasemndenini wayo. Kuvamile ukuzizwa wesaba futhi ukhathazekile lapho ufunda ngakho.

• Kubalulekile ukuqaphela izimpawu zakuqala : Funa iseluleko sezokwelapha uma ubona ushintsho endleleni yokuhamba kwengane yakho, ibhalansi, ubunzima bokukhuluma, noma amabala abomvu angajwayelekile esikhumbeni/emehlweni.
• Nakuba kungekho ikhambi lalokhu, izimpawu zingalawulwa : ukwelashwa okufanele kanye nezinsizakalo zokusekela kungasiza ekuthuthukiseni ikhwalithi yokuphila kwengane futhi kwandise isikhathi sayo sokuphila.
• Nakekela amasosha omzimba wakho : Izingane ezine-'AT' zisengozini enkulu yokuthola izifo. Ngakho-ke qaphela izimpawu zokutheleleka futhi ufune ukwelashwa ngokushesha.
• Awuwedwa : Wena nengane yakho ningathola ukwesekwa enikudingayo kodokotela, abeluleki bezakhi zofuzo, kanye namaqembu okusekela.
• Uthando nokusekelwa yizinto ezibaluleke kakhulu : Uthando lwakho, isineke, kanye nokusekelwa yizinto ezibaluleke kakhulu enganeni yakho phakathi nalolu hambo.

Ngiyethemba ukuthi lolu lwazi lukusizile ukuthi uqonde lesi simo esiyinkimbinkimbi. Uma uneminye imibuzo, ungangabazi ukukhuluma nodokotela.

I- Ataxia-telangiectasia, i-AT, i-Louis-Bar syndrome, izifo zofuzo, isimiso sezinzwa, isimiso somzimba sokuzivikela, ukuphazamiseka kokunyakaza, izifo ezingavamile, izifo zezingane