Ngaba umntwana wakho unazo ezi mpawu? Masithethe nge-'Ataxia-Telangiectasia (AT)'!

Ngaba umntwana wakho omncinci ukhubeka rhoqo kunabanye abantwana xa ehamba, okanye ubonakala enengxaki yokugcina ibhalansi yakhe? Ngaba ngamanye amaxesha uneentsontelo ezincinci ezibomvu emehlweni akhe okanye ezidleleni zakhe? Ezi zizinto ezincinci esizityeshelayo ngamanye amaxesha, kodwa zinokuba ziimpawu zokuqala zesifo esingaqhelekanga semfuza esibizwa ngokuba yi-'Ataxia-Telangiectasia (AT). Ngoko ke, nangona esi sisihloko sinzima kancinci, masithethe ngaso ngendlela elula onokuyiqonda.

Yintoni kanye kanye i-`Ataxia-Telangiectasia (AT)`?

Ngamafutshane, i-'Ataxia-Telangiectasia (AT),' ekwaziwa ngabanye njenge-'Louis-Bar Syndrome,' yimeko engaqhelekanga kakhulu yemfuza echaphazela kakhulu inkqubo yethu yemithambo-luvo, uthungelwano lwemithambo-luvo ethwala imiyalezo evela kwingqondo, kumqolo, nakuwo wonke umzimba, kunye nenkqubo yomzimba yokuzikhusela, ekhusela imizimba yethu kwizifo.

Le yimeko `(neurodegenerative)`. Oko kukuthi, ngokuhamba kwexesha, iiseli kwinkqubo yethu yemithambo-luvo ziyaphela kancinci kancinci, kwaye umsebenzi wazo uyaphela. Cinga ngayo njengomatshini owawusebenza kakuhle kancinci kancinci uyaguga, kwaye amalungu ayaguga aze ayeke ukusebenza. Xa ezi seli zemithambo-luvo zibuthathaka, kuvela imeko ebizwa ngokuba yi`(ataxia)`, apho umzimba ulahlekelwa yibhalansi usemncinci kwaye iintshukumo ziba zingaqhelekanga. Yiyo loo nto ibizwa ngokuba yi-"ataxia".

Olunye uphawu oluphambili yi-telangiectasia. Oku kwenzeka xa kuvela imithambo yegazi emincinci ebomvu efana nomsonto kwiindawo ezimhlophe zamehlo, kwaye ngamanye amaxesha ezidleleni nakwiindlebe. Ezi zihlala zingenabuhlungu, kodwa ziluphawu lwesifo.

Ngubani onokuhlakulela le meko?

I-`Ataxia-Telangiectasia (AT)` ibangelwa lutshintsho kwiijini, oko kukuthi, `uguquko kwijini` . Nabani na angayizuza le nto. Kodwa wazi njani? Esi sifo senzeka kuphela xa umntwana efumana ikopi eguquliweyo yale jini ye-`ATM` evela kumama nakutata. Kwizonyango, esi sibizwa ngokuba yi-`(autosomal recessive)` njengelifa.

Khawucinge ukuba bobabini abazali banekopi enye kuphela yale jini iguquliweyo. Emva koko abayi kubonakalisa zimpawu, kuba kufuneka iikopi ezimbini zejini eguquliweyo ukuze kuphuhliswe esi sifo. Kodwa baya kuba "ngabathwali" bale jini. Ngoko ke, umntwana ovela kubazali ababini abangabathwali unethuba lokufumana zombini iikopi zale jini iguquliweyo. Ukuba oko kuyenzeka, umntwana uya kuba nesifo se-'AT'. Ngokwezibalo eMelika, malunga ne-1% yabemi kwelo lizwe ngabathwali bale jini iguquliweyo ye-'ATM'.

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

Esi sisifo esingaqhelekanga . Ehlabathini lonke, kuqikelelwa ukuba malunga nomntu omnye kwabangama-40,000 ukuya kwi-100,000 unesi sifo. Oku kuthetha ukuba sinqabile naseSri Lanka.

Esi sifo sichaphazela njani umzimba womntwana?

I-Ataxia-Telangiectasia (AT) sisifo esiba mandundu kancinci kancinci ngokuhamba kwexesha.Oko kukuthi, iimpawu ziyanda ngokuhamba kwexesha. Umntwana one-'AT' udla ngokuqala ukubonisa iimpawu xa eneminyaka emi-5 ubudala.

Iimpawu zokuqala ezibonakala ziingxaki zokunyakaza.

• Xa ndihamba , ndiziva ngathi imilenze yam iyabhideka kwaye ndilahlekelwa kukulinganisela .
• Amalungu ayashukuma ngendlela engaqhelekanga.
• Izihlunu ziyaqhaqhazela nje.
• Xa ndithetha , amazwi am ayaxanana, ndize ndizive ngathi ndinengxaki yokuthetha .

Njengoko umntwana wakho ekhula aze angene ebusheni, usenokufuna uncedo lokuhambahamba, njengesitulo esinamavili, ukuze akwazi ukuhambahamba. Ndiyaqonda ukuba oku kunokuba nzima kubazali, kodwa kubalulekile ukuyiqonda le meko.

Zithini iimpawu ze-'Ataxia-Telangiectasia (AT)'?

Njengoko besitshilo ngaphambili, kukho iimpawu ezimbini eziphambili zesi sifo:

1. Ubunzima bokulungelelanisa iintshukumo (i-ataxia) : Ubunzima bokuhamba, ukulahlekelwa yibhalansi, njl.

2. Imithambo yegazi emincinci ebomvu ebonakala emehlweni naselusu (telangiectasia) : Le idla ngokubonakala kwiindawo ezimhlophe zamehlo, ezidleleni, nasezindlebeni.

Ukongeza koku, ezinye iimpawu ezinxulumene nokuhamba zinokubonakala kwimeko ye-'AT':

• Ubunzima bokuhamba (le yenye yeempawu eziphambili ezibonakala kuqala).
• Ukungakwazi ukuhambisa amehlo ukusuka kwelinye icala ukuya kwelinye ``oculomotor apraxia`` okanye iintshukumo zamehlo ezingaqhelekanga ``nystagmus``.
• Iintshukumo ezizenzekelayo nezishukumisayo (chorea).
• Ukuxhuzula kwemisipha (i-myoclonus).
• Ukulahlekelwa kancinci kancinci komsebenzi wemithambo-luvo (i-neuropathy).
• Intetho engacacanga : Abantwana abaninzi banobunzima bokubiza amagama ngokuchanekileyo nokusebenzisa ugxininiso olufanelekileyo kwintetho yabo. Ngenxa yoko, intetho yabo ayivakali ngathi yintetho "eqhelekileyo".
• Iingxaki zokulinganisela .
• Ukuphazamiseka kokukhula okanye ukungasebenzi kakuhle kwenkqubo ye-endocrine: Le meko inokwenziwa mandundu kusulelo oluqhelekileyo kunye notshintsho kwiihomoni zokukhula.

I-Ataxia-Telangiectasia (AT) sisifo esenza inkqubo yomzimba yomntu ibe buthathaka . Obu buthathaka buyanda ngokuhamba kwexesha. Iimpawu zenkqubo yomzimba yomzimba ebuthathaka ziquka:

• Ukuvela rhoqo kwezifo ezingapheliyo zemiphunga.
• Ukuziva udiniwe ngalo lonke ixesha (ukudinwa).
• Ukugula ngokukhawuleza kunabanye.
• Usulelo oluqhelekileyo kunye nokuphola kancinci kwamanxeba.
• Umngcipheko okhulayo wokufumana umhlaza ofana ne-'Leukemia' (umhlaza wegazi) okanye i-'Lymphoma' (umhlaza wee-lymph nodes).
• Uvakalelo oluphezulu kakhulu kwi-radiation exposure (umz. ii-X-ray).

Olunye uphawu kukunyuka kwenqanaba leproteni ebizwa ngokuba yi-`alpha-fetoprotein (AFP)` egazini. Isizathu esichanekileyo sokwanda kwamanqanaba e-`AFP` asaziwa.

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

Esi sifo sibangelwa kukuguquka kwejini ekuthiwa yi-'ATM'.

Ngoku masibone ukuba zeziphi ezi genes kunye neechromosomes ngokulula. Khawucinge ukuba kukho incwadi enkulu enayo yonke imiyalelo yokukhula kwemizimba yethu. Loo ncwadi ibizwa ngokuba yi-'DNA'. Izahluko zale ncwadi ye-'DNA' zibizwa ngokuba yi-'genes'. Le 'DNA' igcinwa ngaphakathi kwezinto ezibizwa ngokuba yi-'chromosomes'. Ngokwesiqhelo, umntu uneechromosomes ezingama-46, ezihlelwe ngababini abangama-23. Sifumana enye kumama wethu kwaye enye kutata wethu ukuze senze ezi zibini zechromosome.

Xa iiseli ezikwizitho zokuzala zisenziwa, ezi seli ziyahlukana kwaye zenze iikopi zazo. Ngamanye amaxesha, njengomshicileli ofaka iphepha, ezi seli zinokwenza iimpazamo kwiijini zazo, ezibizwa ngokuba ziinguqu. Ezinye iikopi zemiyalelo zenziwa kanye njengoko zinjalo, kwaye ezinye zenziwe ngendlela engafanelekanga.

Njengoko besitshilo ngaphambili, le gene iguquliweyo izuzwe njengelifa kwipateni ethi ``autosomal recessive``. Oku kuthetha ukuba umama notata ngabathwali bale gene ethi ``ATM`` iguquliweyo, kwaye umntwana uya kuba nesi sifo ukuba bobabini bazuza ilifa le gene iguquliweyo. Ukuba ivela kumzali omnye kuphela, umntwana uya kuba ngumthwali kuphela kwaye akayi kubonisa zimpawu.

Le gene ye-'ATM' ibaluleke kakhulu. Kuba ivelisa iiproteni ezixelela umzimba indlela yokulungisa 'i-DNA' yethu xa yonakele. Iiproteni ze-'ATM' zifana nabaphandi. Ngabo bafumana iiseli ezonakeleyo kunye neziqwenga ze-'DNA' baze bazise '(ii-enzymes)' ezifunekayo ukuzilungisa. Kungenxa yale nkqubo yokulungisa 'i-DNA' ukuba amaphepha encwadi yemiyalelo yomzimba wethu ajika kakuhle.

Kwakhona, iproteni ethi `ATM` ixelela inkqubo yethu yemithambo-luvo kunye nenkqubo yomzimba yokuzikhusela ukuba, "Kufuneka usebenze kakuhle." Ngoko ke, xa kukho utshintsho kwijini ethi `ATM`, umsebenzi weproteni ethi `ATM` uyancipha ngokuhamba kwexesha. Oko kuthetha ukuba iiseli zilahlekelwa ziinxalenye zencwadi yazo yemiyalelo, kwaye azikwazi ukusebenza kakuhle. Eso sesona sizathu siphambili seempawu ze `Ataxia-Telangiectasia (AT)`. Uyifumene?

Ifunyaniswa njani i-`Ataxia-Telangiectasia (AT)`?

Ugqirha uza kuqala ngokuhlola iimpawu zakho aze enze uvavanyo lwemifanekiso kunye novavanyo lwegazi ukuze afumanise utshintsho lwezakhi zofuzo olubangela iimpawu zakho. Ugqirha wakho uza kujonga ngokweenkcukacha impilo yomntwana wakho kunye nembali yezonyango yosapho ukuze enze uxilongo. Ukuba ukrokrela ukuba une-AT, kubalulekile ukubona ingcali ye-immunology ukuze ahlolwe ngokupheleleyo.

Zeziphi iimvavanyo ezisetyenziswayo ukuxilonga i-'Ataxia-Telangiectasia (AT)'?

Kukho iimvavanyo ezininzi ezinokunceda ekuxilongeni esi sifo:

• Uvavanyo lwemfuza : Olu luvavanyo lwegazi olunokubonisa utshintsho oluthile lwemfuza olubangela iimpawu zakho.
• I-Magnetic Resonance Imaging (MRI) : I-MRI scan ithatha imifanekiso yengqondo ize ijonge iimpawu zeeseli zemithambo-luvo okanye iiseli ze-cerebellum ezibuthathaka (i-cerebellar atrophy). Olu luphawu lokuba i-ataxia iya isiba mandundu.
• I-Karyotyping : Olu luvavanyo lwegazi. Luhlola ii-chromosomes ukuze kuchongwe iimeko zemfuza.
• Uvavanyo lwegazi : Uvavanyo lwegazi lwenziwa ukujonga amanqanaba aphezulu e-alpha-fetoprotein (AFP).

Kumazwe amaninzi, uhlolo lweentsana ezisandul’ ukuzalwa lusetyenziselwa ukubona imeko ye-Ataxia-Telangiectasia (AT). Ngaphandle koko, oogqirha badla ngokuxilonga imeko kwasebuntwaneni.

Ziziphi iindlela zonyango ze-`Ataxia-Telangiectasia (AT)`?

Unyango lwe-'Ataxia-Telangiectasia (AT)' lulawula kuphela iimpawu . Akukho nyango lwesi sifo okwangoku . Iindlela zonyango zenzelwe umntu ngamnye, oko kuthetha ukuba zinokuhluka kumntwana ngamnye. Zingabandakanya:

• Ukulawula i-telangiectasia, olu luthungelwano lwemithambo yegazi ebonakala eluswini , kuphephe ukuchatshazelwa lilanga kakhulu .
• Ukuba umhlaza uvela , kusetyenziswa i-chemotherapy .
• Unyango lomzimba lokuqinisa izihlunu.
• Ukufumana inaliti ye-gammaglobulin kwiintsholongwane zokuphefumla.
• Ukufumana unyango lwe-immunoglobulin ukuxhasa inkqubo yomzimba yokuzikhusela ebuthathaka.
• Ukuthatha amayeza okubulala iintsholongwane ukunyanga izifo.
• Ukusela amayeza anjengeDiazepam ukulawula ubunzima bokuthetha kunye neentshukumo zemisipha ezizenzekelayo.

Ndingawunciphisa na umngcipheko womntwana wam wokuba ne-'Ataxia-Telangiectasia (AT)'?

Ngenxa yokuba i-`Ataxia-Telangiectasia (AT)` yimbangela yokuguquka kwezakhi zofuzo, akukho ndlela yokukuthintela ukuba kwenzeke . Nangona kunjalo, ngokubanzi, kukho izinto onokuzenza ukunciphisa umngcipheko wokuba nomntwana onesifo sezakhi zofuzo, njengokuphepha ukutshaya nokuphepha ukuvezwa kwiikhemikhali. Ukuba uceba ukukhulelwa, licebo elihle ukuthetha nogqirha wakho malunga neengcebiso zezakhi zofuzo ukuze uqonde umngcipheko wokuba nomntwana onesifo sezakhi zofuzo esifana ne-`Ataxia-Telangiectasia (AT)`.

Yintoni endimele ndiyilindele ukuba ndinomntwana one-'AT'?

I-Ataxia-Telangiectasia (AT) sisifo esiba mandundu ngokuhamba kwexesha. Iimpawu ezincinci ezichaphazela iintshukumo zomntwana wakho ziqala ebuntwaneni, kunye neenethiwekhi zemithambo yegazi ebonakalayo eluswini. Njengoko umntwana ekhula, iiseli zakhe zilahlekelwa ngamandla azo okusebenza ngokwemiyalelo yesikhokelo. Oku kuthetha ukuba iimpawu zomntwana ziba mandundu ngakumbi, kwaye banokufuna ukusebenzisa isitulo esinamavili xa befikelela kubudala obukhulu.

Olunye uphawu lwale meko kukungabikho komzimba oqinileyo, ngoko ke nokosuleleka okuncinci kunokuba nefuthe elibi kwimpilo yomntwana.

Inkqubo yomzimba yokuzikhusela ebuthathaka ikwanyusa umngcipheko wokuba nomhlaza ofana ne-leukemia okanye i-lymphoma. Nangona kunjalo, kukho unyango lokuphucula ukusebenza kwenkqubo yomzimba yokuzikhusela, olunokunceda umntwana wakho ahlale esempilweni.

Ulindelo lobomi be- AT luyahluka ngokuxhomekeke kubukhali beempawu. Nangona kunjalo, uninzi lwabantu abanesifo baphila baze babe ngabantu abadala (malunga neminyaka engama-30, umyinge weminyaka engama-25). Unyango lwasekuqaleni lwezifo eziqhelekileyo kunye nokuhlolwa komhlaza kunokunceda ukwandisa ixesha lokuphila.

Ngaba ikho indlela yokunyanga i-'Ataxia-Telangiectasia (AT)'?

Hayi, akukho nyango lwe-'Ataxia-Telangiectasia (AT)' okwangoku . Unyango lujolise ekunciphiseni iimpawu, ukwenza ubomi bube lula kumntu ngamnye onesifo, kunye nokunceda ukwandisa ubomi bakhe.

Ndingamnyamekela njani umntwana wam nge-'AT'?

Xa ufumanisa ukuba umntwana wakho une-'Ataxia-Telangiectasia (AT)', kunokuba nzima ukuqonda yonke imeko kunye nokwazi kakuhle indlela yokumnceda umntwana wakho. Ugqirha womntwana wakho uya kubonelela ngesicwangciso sonyango esilungiselelwe iimpawu zakhe, kwaye uya kufumaneka ukuphendula nayiphi na imibuzo onokuba nayo.

Ugqirha wakho angacebisa ukuba udibane nomcebisi wezemfuza . Abacebisi ngezemfuza ziingcali kwizemfuza. Banokunceda usapho lwakho lufunde ngakumbi nge-Ataxia-Telangiectasia (AT) kwaye bancede umntwana wakho aphile ubomi obutofotofo nobanelisayo. Banokukunceda nokuba ujongane noxinzelelo onokuba ujongene nalo njengoko umntwana wakho efumana isifo.

Ndifanele ndimbone nini ugqirha?

Ngenxa yokuba i-Ataxia-Telangiectasia (AT) ichaphazela inkqubo yomzimba yokuzikhusela, ukuba umntwana wakho ubonisa iimpawu zosulelo , kufuneka ubone ugqirha ngoko nangoko ukuze afumane unyango. Iimpawu zosulelo zingabandakanya:

• Ukutshintsha kombala wolusu kwindawo enesifo.
• Ukugodola.
• Ukukhwehlela.
• Ifiva.
• Ukuziva intlungu okanye ukwenzakala kwindawo enye yomzimba okanye umzimba wonke.
• Ukudumba kwindawo ethile emzimbeni.
• Ukuqhawukelwa ngumphefumlo.
• Ukuhlanza okanye urhudo.

Ndingayibuza yiphi imibuzo ugqirha wam?

• Ngaba kufuneka ndidibane nogqirha wezonyango ukuze aphucule amandla emisipha yomntwana wam?
• Ngaba kukho naziphi na iziphumo ebezingalindelekanga ezivela kunyango oluchazwe kwiimpawu zomntwana wam?
• Ukuba ndingumthwali we-gene eguquliweyo, ngaba ndisemngciphekweni wokuba nomntwana one-`Ataxia-Telangiectasia (AT)`?

Ukuqonda ukuxilongwa komntwana wakho nge-'Ataxia-Telangiectasia (AT)' kunokuba ngamava anzima kakhulu kwaye axinzelelekileyo kuwe njengomnakekeli. Nangona kunjalo, ugqirha wakho uya kukunika isicwangciso sonyango esifanelekileyo esilungiselelwe iimpawu zomntwana wakho. Eyona nto ibalulekileyo kukunika umntwana wakho uthando kunye nenkxaso ayidingayo ebomini bakhe bonke. Kwakhona, qaphela naziphi na iimpawu ezintsha ezibonakala, zinyangwe ngokukhawuleza, kwaye uzame ukwandisa ubomi bomntwana wakho kangangoko kunokwenzeka.

## Izinto ezibalulekileyo ekufuneka uzikhumbule (Umyalezo oya nawo ekhaya)

I-Ataxia-Telangiectasia (AT) sisifo esingaqhelekanga semfuza esinokuba nefuthe elikhulu kumntwana nakwintsapho yakhe. Kuqhelekile ukuba uzive usoyika kwaye uxhalabile xa ufunda ngaso.

• Kubalulekile ukuqaphela iimpawu zakwangoko : Funa ingcebiso kagqirha ukuba ubona utshintsho kwindlela umntwana wakho ahamba ngayo, ukulinganisela, ubunzima bokuthetha, okanye amabala abomvu angaqhelekanga eluswini/emehlweni.
• Nangona kungekho nyango loku, iimpawu zinokulawulwa : unyango olufanelekileyo kunye neenkonzo zenkxaso zinokunceda ukuphucula umgangatho wobomi bomntwana kwaye zandise ubomi bakhe.
• Lumka umzimba wakho : Abantwana abane-'AT' basengozini enkulu yokufumana usulelo. Ngoko ke qaphela iimpawu zosulelo kwaye ufune unyango ngokukhawuleza.
• Awuwedwa : Wena nomntwana wakho ninokufumana inkxaso eniyifunayo koogqirha, abacebisi ngemfuza, kunye namaqela enkxaso.
• Uthando nenkxaso zezona zinto zibalulekileyo : Uthando lwakho, umonde wakho, kunye nenkxaso yakho zezona zinto zixabisekileyo kumntwana wakho ngeli xesha lohambo.

Ndiyathemba ukuba olu lwazi lukuncedile ukuba uqonde ngakumbi le meko inzima. Ukuba unemibuzo engaphezulu, ungathandabuzi ukuthetha nogqirha.

I - Ataxia-telangiectasia, i-AT, isifo sikaLouis-Bar, izifo zemfuza, inkqubo yemithambo-luvo, inkqubo yomzimba yokuzikhusela, iingxaki zokuhamba, izifo ezingaqhelekanga, izifo zabantwana