Siyini isifo sikaTay-Sachs? Singaxoxa ngaso?

Uma ucabanga ngempilo yengane yakho, ngezinye izikhathi kunezinto eziningi ezifika engqondweni, akunjalo? Kunezifo ezithile ezikwenza uzizwe wesaba futhi ukhathazekile kancane uma uzwa ngazo. Esinye isimo esiyinkimbinkimbi kancane, kodwa kubaluleke kakhulu kithi sonke ukuba siqaphele yi- Tay-Sachs Disease . Lesi yisimo sofuzo. Namuhla, sizokhuluma ngalokhu kalula, ngendlela ongayiqonda kahle kakhulu.

Iyini ngempela i-Tay-Sachs Disease?

Kalula nje, isifo sikaTay-Sachs siyisifo esibangelwa izakhi zofuzo . Sibangela ukuthi amangqamuzana ezinzwa (ama-neurons) ebuchosheni bomntwana wakho kanye nomgogodla wakhe alimale futhi afe kancane kancane. Cabanga ukuthi yiziphi izinkinga ezingavela uma lawa maseli ezinzwa, athwala imiyalezo emizimbeni yethu, engasebenzi kahle. Izimpawu zalesi sifo, njengokukhubazeka kokukhula kanye nokuphazamiseka kokubona nokuzwa, ngokuvamile ziqala lapho ingane inezinyanga ezi-6 ubudala. Into edabukisayo ukuthi, yisifo esiqhubekayo. Lokhu kusho ukuthi izimpawu ziya ziba zimbi ngokuhamba kwesikhathi. Ngeshwa, izingane ezinalesi sifo ziyafa zisencane. Okwamanje akukho ukwelashwa . Kodwa-ke, kunezindlela ezahlukene zokwelapha ezingasiza ingane yakho ukuthi izizwe ingcono futhi iphile ngokunethezeka.

Ingabe zikhona izinhlobo zesifo sikaTay-Sachs?

Yebo, isifo se-Tay-Sachs singahlukaniswa ngezinhlobo ezintathu eziyinhloko. Lezi zihlukaniswa ngokwesikhathi lapho izimpawu ziqala ukuvela: 1. I-Tay-Sachs yabantwana abavamile: Lolu uhlobo oluvame kakhulu . Izingane ziqala ukukhombisa izimpawu lapho zinezinyanga ezi-6 ubudala. 2. I-Tay-Sachs yabantwana: Lokhu akuvamile kakhulu . Izingane zingabonisa izimpawu phakathi kweminyaka emi-5 neminyaka yobusha. 3. I-Tay-Sachs eqala sekwephuzile: Lolu futhi uhlobo olungavamile kakhulu . Izimpawu zingaqala ebuntwaneni noma ebudaleni bokuqala. Ngezinye izikhathi izimpawu zingavela ngemva kweminyaka engama-30. Lolu hlobo lungase lungathinti impilo. Into eyodwa ebalulekile ukuthi lezi zifo zidluliselwa kanjani emindenini. Isibonelo, uma ingane eyodwa iba nohlobo lwe-Tay-Sachs yabantwana, ezinye izingane emndenini azikho engozini yokuthola i-Tay-Sachs eqala sekwephuzile.

Isifo sikaTay-Sachs sivame kangakanani?

Izifundo zibonisa ukuthi, ngokwesilinganiso, cishe umuntu oyedwa kwabangu-300 angaba ngumthwali we-genetic variant noma i-mutation ebangela isifo se-Tay-Sachs. Kodwa-ke, inani lezingane ezizalwa nesifo se-Tay-Sachs empeleni liphansi kakhulu. Ngakho-ke, kubhekwa njengesifo esingavamile . Ukuqwashisa, imfundo, kanye nokuhlolwa kwezakhi zofuzo kusize ekunciphiseni ukusabalala kwalesi sifo phakathi kwabantu abasengozini.

Ziyini izimpawu zesifo iTay-Sachs?

Izimpawu zesifo sikaTay-Sachs ziyahlukahluka kuye ngobudala bengane. Lesi sifo siyaqhubeka njengoba ingane ikhula. Esinye sezimpawu eziyinhloko ezibonakala ezinganeni ukwehluleka ukuhlangabezana nezigaba zokukhula noma ukukhohlwa amakhono afundwe futhi asetshenziswa ngaphambilini.

Izimpawu ze-Classic Infantile Tay-Sachs

Izimpawu ezingase zibonakale ezigabeni zokuqala (cishe ezinyangeni eziyisithupha):

• Ubuthakathaka bemisipha .
• Ubunzima bokujika intamo, ukuhlala phansi, noma ukuguqa.
• Ukwethuswa kalula yimisindo emikhulu.

Njengoba lesi sifo siqhubeka (ngaphambi konyaka), izimpawu ezinjengalezi zingase zivele:

• Ukufinyela kwemisipha okungahleliwe, okuzwakala sengathi kuyaqhuma - lokhu sikubiza ngokuthi ukuqhuma kwemisipha okubangelwa yi-myoclonic.
• Ukuba nesithuthwane (ukuxhuzula).
• Ubunzima bokugwinya ukudla bubizwa nangokuthi i-dysphagia.
• Ukulahlekelwa ukubona .
• Ukulahlekelwa ukuzwa.
• Odokotela baphawula ibala elibomvu njenge-cherry esweni ngesikhathi sokuhlolwa.
• Izifo zokuphefumula ezivame ukwenzeka.

Ngesikhathi ingane isineminyaka engaba ngu-2 ubudala, lesi simo sesibe sibi kakhulu kangangokuthi ingane ingase ingasabeli . Lokhu kusho ukuthi iningi lomsebenzi wobuchopho liyalahleka. Ingane ivame ukufa phakathi kweminyaka engu-2 no-4. Imbangela evame kakhulu yokufa ngenxa yesifo sikaTay-Sachs ebuntwaneni ukutheleleka kwamaphaphu njenge- pneumonia .

Izimpawu ze-Youvenile Tay-Sachs

Ngemva kweminyaka emi-5, izingane ezitholakale zinesifo se-Tay-Sachs ebuntwaneni zingase zibe nezimpawu ezifana nalezi:

• Ubuthakathaka bemisipha noma ukulahlekelwa ukulawula imisipha.
• Ukutheleleka okuvamile.
• Ubunzima bokukhuluma nolimi (isib., amagama angacacile, ukungakwazi ukukhuluma kahle).
• Ukukhohlwa izinto ezifundwe ngaphambilini.
• Izinguquko ekuziphatheni nasemizweni (isib., ukuthukuthela ngokuzumayo, ukudabuka).
• Ukukhubazeka kwamehlo nokuzwa.
• Ukuba nesithuthwane (ukuxhuzula).

Lesi simo sivame ukuqhubeka kancane kancane kuze kube seminyakeni yobusha, lapho singaholela ekufeni.

Izimpawu zeTay-Sachs eziqala sekwephuzile

Abantu abadala abatholakale benesifo se-Tay-Sachs esiqala ngasekupheleni bangase babe nezimpawu ezifana nalezi:

• Ubuthakathaka bemisipha kanye nokuqina kwemisipha.
• Ukulahlekelwa yibhalansi - okubizwa nangokuthi i-ataxia - noma ubunzima bokuhamba.
• Ubunzima bokukhuluma nokugwinya .
• Ukuvela kwezinkinga zengqondo ezifana ne -psychosis noma ezinye izimo zempilo yengqondo .

Kodwa-ke, lolu hlobo lokuqala sekwephuzile ngokuvamile aluthinti ngqo isikhathi sokuphila komuntu.

Yini ebangela isifo iTay-Sachs?

Imbangela eyinhloko yesifo sikaTay-Sachs ukushintsha kwezakhi zofuzo (ukuguquka) kwezakhi zofuzo ze-HEXA . Cabanga ngakho, le gene ye-HEXA ifana nencwadi enikeza imiyalelo kumaseli ethu. Le ncwadi iqukethe imiyalelo yokwenza i-enzyme ebizwa ngokuthi i-hexosaminidase A. Le enzyme ye-hexosaminidase A ifana nesisebenzi emizimbeni yethu. Umsebenzi wayo ukuphula nokususa ezinye izinto eziyingozi, ezinobuthi (ikakhulukazi izinto ezinamafutha) eziqongeleleka emzimbeni. Manje, kwenzekani uma le enzyme ingakhiqizwa kahle noma uma ingasebenzi kahle ngenxa yephutha ku-gene ye-HEXA? Leyo nto enamafutha eyingozi iqala ukuqongeleleka ngaphakathi kwamaseli, njengenqwaba kadoti . Lokhu kubangela umonakalo kumaseli ebuchosheni nasemgogodleni, futhi ekugcineni lawo maseli ayafa. Leso yisona sizathu sezimpawu zesifo sikaTay-Sachs.

Isifo sikaTay-Sachs sizuzwa kanjani njengefa? Kusho ukuthini ukukhubazeka kwe-autosomal?

Isifo sikaTay-Sachs siyisimo sokuwohloka kwe-autosomal . Kalula nje, lokhu kusho ukuthi ukuze ingane ibe nesifo sikaTay-Sachs, ingane kumele ithole amakhophi amabili anephutha esakhi sofuzo se-HEXA. Sonke sinamakhophi amabili esakhi sofuzo ngasinye, esisodwa esivela kumama wethu kanye nesinye esivela kubaba wethu. Isifo sikaTay-Sachs senzeka kuphela uma bobabili abazali bengabathwali bezakhi zofuzo ze-HEXA ezinephutha futhi bedlulisela zombili lezo zakhi zofuzo ezinephutha enganeni yabo. Khona-ke amakhophi womabili esakhi sofuzo se-HEXA awasebenzi kahle. Ngezinye izikhathi odokotela babiza lesi simo ngokuthi i-hexosaminidase A deficiency, noma i-hex A deficiency.

Ngubani inkampani yezindiza iTay-Sachs?

Umthwali ngumuntu onekhophi eyodwa esebenzayo ye-HEXA gene kanye nekhophi eyodwa enephutha . Sonke sizuza amakhophi amabili e-gene (elinye livela eqandeni likamama wethu, elinye livela esidodaneni sikababa wethu). Abathwali ababi nalesi sifo noma babonise izimpawu.Ngoba imizimba yabo ingasebenzisa leso sakhi sofuzo esisodwa esisebenzayo ukwenza i-enzyme edingekayo. Manje cabanga ukuthi abantu ababili abanalesi shintsho sezakhi zofuzo (abathwali ababili) bahlangana ukuze babe nomntwana. Khona-ke amathuba okuba lowo mntwana abe nalesi simo alandelayo:

• Kukhona ithuba elingama-25% (elilodwa kwabane) lokuthi ingane ngeke izuze noma yiziphi izakhi zofuzo ze-HEXA ezinephutha. Lokhu kusho ukuthi ingane ngeke ibe nesifo se-Tay-Sachs futhi ngeke ibe yimthwali waso.
• Kukhona ithuba elingama-50% (elilodwa kwababili) lokuthi ingane izozuza ifa lofuzo olunephutha kumzali oyedwa. Ingane izoba ngumthwali walo, kodwa ngeke ibe nesifo se-Tay-Sachs. Njengomthwali walo, ingadlulisela ifa lofuzo ezinganeni zayo esikhathini esizayo.
• Kukhona ithuba elingama-25% (elilodwa kwabane) lokuthi ingane izozuza ifa lofuzo olunephutha kubo bobabili abazali. Yilapho ingane izoqala khona ukuba nesifo se-Tay-Sachs.

Kufana nokuphonsa uhlamvu lwemali. Zonke lezi zinto ezintathu zithinta ukukhulelwa ngakunye ngokulinganayo.

Yiziphi izici eziyingozi zesifo iTay-Sachs?

Ingane isengozini enkulu yokuthola isifo iTay-Sachs kuphela uma abazali bayo bobabili bengabathwali bokuguqulwa kwezakhi zofuzo . Noma ubani angaba ngumthwali walokhu kuguqulwa kwezakhi zofuzo. Kodwa-ke, lesi simo sivame kakhulu emaqenjini athile ezinhlanga. Isibonelo, abantu bozalo lwamaJuda aseFrance-Canada, eMpumalanga Yurophu, noma e-Ashkenazi banamathuba amaningi okuthwala lokhu kuguqulwa kwezakhi zofuzo. Cishe oyedwa kwabangu-30 kubo angaba ngumthwali.

Yiziphi izinkinga zesifo iTay-Sachs?

Izingane ezinesifo sikaTay-Sachs ziyafa zisencane . Njengoba lesi sifo siqhubeka, isikhathi sokuphila kwengane siyancipha.

Isifo sikaTay-Sachs sitholakala kanjani?

Udokotela uxilonga isifo sikaTay-Sachs ngokuhlolwa kwegazi . Kulolu vivinyo, udokotela uthatha isampula encane yegazi esithendeni sengane yakho noma emthanjeni engalweni. Isampula yegazi bese ihlolwa izinga le-enzyme i-hexosaminidase A. Enganeni enesifo sikaTay-Sachs eseyingane, le phrotheni ayitholakali nhlobo noma incishisiwe kakhulu. Abantu abanezinye izinhlobo zalesi sifo nabo banamazinga aphansi ale enzyme. Ngaphezu kwalokho, udokotela angenza ukuhlolwa kwamehlo ukuze ahlole indawo ebomvu njenge-cherry emehlweni engane yakho.

Ingabe isifo sikaTay-Sachs singatholakala ngesikhathi sokukhulelwa?

Yebo, kunezivivinyo ezimbili ezikhethekile ezingathola isifo sikaTay-Sachs ngesikhathi sokukhulelwa:

• Ukuhlolwa kwe-Amniocentesis: Kulokhu kuhlolwa, udokotela uthatha isampula encane yoketshezi lwe-amniotic oluzungeze umntwana esibelethweni sakho bese eluhlola.
• Ukuhlolwa kwe-Chorionic Villus Sampling (CVS): Kulokhu kuhlolwa, udokotela uthatha ingxenye encane yezicubu ku-placenta bese eyihlola.

Zombili lezi zivivinyo zifuna i-enzyme i-hexosaminidase A. Uma amazinga ale enzyme kumasampula okuhlolwa ephansi kunokuvamile, udokotela uzonquma ukuthi umntwana osesibelethweni unesifo i-Tay-Sachs. Ngaphezu kwalokho, lezi zibonelo zingasetshenziswa ukwenza ukuhlolwa kofuzo ukuze kutholakale ukuthi kukhona yini ukuguquka kwezakhi zofuzo ze-HEXA okubangela lesi sifo.

Isifo sikaTay-Sachs siphathwa kanjani?

Ukwelashwa kwesifo sikaTay-Sachs ngokuyinhloko kuwukunakekelwa okusekelayo, okusiza ukulawula izimpawu zengane . Isibonelo, udokotela angakunikeza imithi yokulawula ukuqala kokuquleka. Kubalulekile futhi ukuqinisekisa ukuthi ingane yondlekile kahle futhi inamanzi amaningi . Ithimba lezokwelapha lizokwenza ingane ikhululeke futhi ingabi nobuhlungu ngangokunokwenzeka. Ngaphezu kwalokho, odokotela bazokusiza wena nomndeni wakho nilungiselele ukulahlekelwa yingane yakho. Bangakudlulisela kumeluleki wezempilo yengqondo noma eqenjini lokusekela abashonelwe .

Ukwelashwa kwesifo se-Tay-Sachs esiqala sekwephuzile

Abantu abadala abanesifo se-Tay-Sachs esiqala ngasekupheleni banezindlela zokwelapha ezilandelayo zokulawula izimpawu zabo:

• Ukusebenzisa amadivayisi okusiza noma izinto ezifana nesihlalo sabakhubazekile ukukusiza ukuthi usebenze ngokuzimela futhi uzulazule.
• Ukuthatha imithi yezinkinga zempilo yengqondo noma ukuqaqamba kwemisipha.
• Ukwelashwa ngenkulumo.

Ingabe ikhona ikhambi eliphelele lesifo sikaTay-Sachs?

Cha, okwamanje alikho ikhambi lesifo sikaTay-Sachs. Leli yiqiniso elibuhlungu kakhulu.

Ingabe isifo sikaTay-Sachs singavinjelwa?

Okwamanje ayikho indlela eyaziwayo yokuvimbela isifo sikaTay-Sachs. Kodwa-ke, uma ufuna ukwazi ingozi yakho yokuba nengane enesifo sofuzo esifana nesikaTay-Sachs, khuluma nodokotela wakho mayelana nokwelulekwa ngaphambi kokukhulelwa kanye nokuhlolwa kofuzo ngaphambi kokuba uhlele ukuba nengane . Udokotela wakho angakusiza ukuthi uhlele ukukhulelwa kwesikhathi esizayo.

Iyini inhloso yesifo iTay-Sachs?

Isifo sikaTay-Sachs siyabulala ezinsaneni nasezinganeni ezincane. Ithimba lezokwelapha lengane yakho lizokhuluma nawe ngokusekelwa nokunakekelwa ekupheleni kokuphila . Lizophinde linikeze isiqondiso kubazali, abanakekeli, kanye namalungu omndeni mayelana nendlela yokubhekana nokulahlekelwa ingane. Imindeni eminingi ithola induduzo enkulu ngokukhuluma nomeluleki wezempilo yengqondo noma ukuya eqenjini lokusekela usizi.

Kungani isifo sikaTay-Sachs sibulala?

Isifo sikaTay-Sachs siyabulala ngoba amangqamuzana asebuchosheni bomntwana wakho kanye nomgogodla ayalimala futhi ayafa.. Amaseli adlala indima ebaluleke kakhulu ekugcineni imizimba yethu isebenza kahle. Esifweni i-Tay-Sachs, ukuguquka kwezakhi zofuzo kubangela ukuthi amaseli athole imiyalelo engalungile. Ngenxa yalokho, amaseli awakwazi ukwenza umsebenzi wawo kahle. Ekugcineni, la maseli, abalulekile empilweni yengane, ayabhujiswa. Ngokuvamile, izingane ezinesifo i-Tay-Sachs ziyafa ngenxa yokutheleleka kwamaphaphu, okubizwa ngokuthi i-pneumonia . Ngenxa yokuthi amaseli engane awasebenzi kahle, amasosha omzimba awo awakwazi ukulwa nezifo futhi agcine ingane iphilile.

Ingakanani iminyaka yokuphila komuntu onesifo i-Tay-Sachs?

Izingane ezinesifo i-Tay-Sachs zisencane zivame ukufa zingakafiki eminyakeni emi-5. Izingane ezindala kanye nabantu abadala abasebasha abanesifo i-Tay-Sachs ebuntwaneni bangaphila baze babe badala. Isifo i-Tay-Sachs esiqala sekwephuzile asithinti ngqo isikhathi sokuphila kwabantu abadala.

Ingabe isifo sikaTay-Sachs singelapheka?

Cha. Izingane azikwazi ukwelashwa esifweni sikaTay-Sachs. Ukwelashwa kumane nje kukwenza ingane ikhululeke futhi kunciphise ijubane lokuqhubeka kwalesi sifo.

Ngingayinakekela kanjani ingane yami enesifo iTay-Sachs?

Indlela engcono kakhulu yokunakekela ingane yakho ukuphatha izimpawu zayo nokuyenza ikhululeke ngangokunokwenzeka . Ithimba lakho lezokwelapha lizokunikeza isiqondiso nokunakekelwa kulezi zinkinga:

• Ukuphefumula: Izingane eziningi ezinesifo iTay-Sachs zinenkinga yokuphefumula. Zingaba nezifo zamaphaphu ngoba zinamathe amaningi futhi kunzima ukugwinya. Imithi ehlukahlukene, amadivayisi, noma ukubeka ingane endaweni ethile kungasiza ekuphefumuleni kalula.
• Ukudla Okunomsoco: Udokotela wezifo zolimi lokukhuluma angafundisa ingane yakho izindlela zokuyisiza ukuthi idle futhi iphuze. Njengoba ukugwinya kuba nzima, ingane yakho ingadinga ipayipi lokuyincelisa .
• Ukuquleka: Udokotela wezinzwa angakusiza ukuthola uhlelo lokwelapha olungcono kakhulu lokulawula ukuquleka kwakho.
• Ukuvuselelwa kwezinzwa: Izingane ezine-Tay-Sachs zinezinkinga ezithile zezinzwa (izinkinga ngezinzwa ezinhlanu). Ungavuselela izinzwa zazo usebenzisa izinto ezifana nomculo, izinto ezihambayo, amaphunga aduduzayo, kanye nezindwangu ezithambile.

Kufanele ngimbone nini udokotela?

Khuluma nodokotela wakho kulezi zimo:

• Uma uhlela ukukhulelwa: Uma ucabanga ngokukhulelwa futhi usengozini enkulu yokudlulisela isifo sikaTay-Sachs enganeni yakho, khuluma nodokotela wakho. Ingozi eyengeziwe ingaba uma wena noma umlingani wakho ninomlando womndeni wesifo sikaTay-Sachs, noma uma omunye wenu noma nobabili ningabathwali besifo sikaTay-Sachs. Ukuhlolwa kofuzo kuyatholakala kulabo abasengozini enkulu yokuba nengane enesifo sikaTay-Sachs.Kungenziwa.
• Uma ukhathazekile ngesikhathi sokukhulelwa: Uma ukhulelwe futhi ukhathazekile ngempilo yengane yakho engakazalwa, bona udokotela wakho.
• Uma ingane yakho ibonisa izimpawu: Uma ucabanga ukuthi ingane yakho ayihlangabezani nezigaba zokukhula ngesikhathi noma ibonisa izimpawu zikaTay-Sachs, khuluma nodokotela wayo.

Yimiphi imibuzo okufanele ngiyibuze udokotela wami?

Uma usengozini enkulu yokuthola umntwana onesifo sikaTay-Sachs, buza udokotela wakho le mibuzo:

• Nginesithakazelo sokwelulekwa ngaphambi kokukhulelwa , yini okufanele ngiyenze?
• Ngingayinciphisa kanjani ingozi yami yokuthola umntwana onesifo sikaTay-Sachs?
• Kwenzekani uma mina nomlingani wami sobabili singabathwali begciwane ?
• Yikuphi ukwelashwa okuncoma ingane yami?
• Ngingamphatha kanjani umntwana wami ngokukhululeka?
• Ungancoma yini ukwelulekwa ngosizi noma iqembu lokusekela abashonelwe ?

Ingabe isifo sikaSandhoff sifana nesifo sikaTay-Sachs?

Yebo, izimpawu kanye nokuqhubeka kwesifo iSandhoff kufana nesifo iTay-Sachs. Lesi futhi yisimo esizuzwa njengefa. Isifo iTay-Sachs sihlobene ne-enzyme ebizwa ngokuthi i-hexosaminidase A. Isifo iSandhoff sihlobene ne-hexosaminidase A kanye nenye i-enzyme ebizwa ngokuthi i-hexosaminidase B.

Okokugcina, khumbula lokhu.

Isifo sikaTay-Sachs sinzima kakhulu futhi sibuhlungu kakhulu. Lokho okuzwayo kuyaqondakala. Phakathi nalesi sikhathi esinzima, nansi ezinye izinto ezingakusiza:

• Ungahlupheki wedwa. Lokhu kunzima ukubhekana nakho wedwa. Cela usizo kodokotela, abahlengikazi, umndeni wakho, kanye nabangani abelapha ingane yakho. Uma uzizwa ukhungathekile, ungesabi ukuthola umeluleki noma ujoyine iqembu lokusekelana nabazali abanokuhlangenwe nakho okufana nokwakho.
• Ingane yakho izonakekelwa kahle. Ngisho noma ukugula kuba kubi kakhulu, odokotela bazokwenza konke okusemandleni abo ukuze benze ingane yakho ikhululeke futhi ingabi nobuhlungu ngangokunokwenzeka. Ungakwethemba lokho.

Lokhu kubaluleke kakhulu futhi: Uma ucabanga ngokuthola umntwana futhi, qiniseka ukuthi wenza ukuhlolwa kofuzo ngaphambi kokuba nomntwana . Thola iseluleko ngakho. Khona-ke ungazi konke futhi wenze isinqumo esihle njengomndeni.

Ngiyethemba ukuthi lolu lwazi luzokusiza. Uma udinga ulwazi olwengeziwe, ungesabi ukubuza udokotela wakho.