Yintoni isifo sikaTay-Sachs? Singathetha ngaso?

Xa ucinga ngempilo yomntwana wakho omncinci, ngamanye amaxesha zininzi izinto ezifika engqondweni, akunjalo? Kukho ezinye izifo ezikwenza uzive usoyika kwaye ukhathazekile xa usiva ngazo. Esinye sezifo ezinjalo esinzima kancinci, kodwa kubaluleke kakhulu ukuba sonke sizazi sisifo sikaTay-Sachs . Esi sisifo semfuza. Namhlanje, siza kuthetha ngale nto ngokulula, ngendlela onokuyiqonda kakuhle.

Yintoni kanye kanye iSifo sikaTay-Sachs?

Ngamafutshane, isifo sikaTay-Sachs sisifo semfuza . Sibangela ukuba iiseli zemithambo-luvo (ii-neurons) engqondweni yomntwana wakho kunye nomqolo wakhe zonakale kwaye zife kancinci kancinci. Khawuthelekelele ukuba zeziphi iingxaki ezinokuvela ukuba ezi seli zemithambo-luvo, ezithwala imiyalezo ejikeleze imizimba yethu, azisebenzi kakuhle. Iimpawu zesi sifo, ezinje ngokukhula okulibazisekayo kunye nokuphazamiseka kokubona nokuva, zihlala ziqala xa umntwana eneminyaka emalunga neenyanga ezi-6 ubudala. Into ebuhlungu kukuba, sisifo esiqhubekayo. Oku kuthetha ukuba iimpawu ziya ziba mandundu ngokuhamba kwexesha. Ngelishwa, abantwana abanesi sifo bafa besebancinci. Okwangoku akukho nyango . Nangona kunjalo, kukho iindlela ezahlukeneyo zonyango ezinokunceda umntwana wakho azive ngcono kwaye aphile kamnandi ngakumbi.

Ngaba kukho iintlobo zeSifo sikaTay-Sachs?

Ewe, isifo sikaTay-Sachs sinokwahlulwa sibe ziintlobo ezintathu eziphambili. Ezi zahlulwe ngokwexesha apho iimpawu ziqala ukubonakala: 1. I-Tay-Sachs yosana eqhelekileyo: Olu lolona hlobo luqhelekileyo . Abantwana baqala ukubonisa iimpawu xa bemalunga neenyanga ezi-6 ubudala. 2. I-Tay-Sachs yolutsha: Olu aluqhelekanga kakhulu . Abantwana banokubonisa iimpawu phakathi kweminyaka emi-5 kunye neminyaka yokufikisa. 3. I-Tay-Sachs eqala emva kwexesha: Olu luhlobo olungaqhelekanga kakhulu . Iimpawu zinokuqala ekupheleni kwexesha lokufikisa okanye ekuqaleni kokukhula. Ngamanye amaxesha iimpawu zinokuvela emva kweminyaka engama-30. Olu hlobo lusenokungachaphazeli ubomi. Into ebalulekileyo yindlela ezi zifo ezidluliselwa ngayo kwiintsapho. Umzekelo, ukuba umntwana omnye uvelisa uhlobo lwe-Tay-Sachs yosana, abanye abantwana kusapho abanamngcipheko wokukhula emva kwexesha lokufikisa.

Ixhaphake kangakanani iSifo sikaTay-Sachs?

Izifundo zibonisa ukuba, ngokomyinge, malunga nomntu omnye kwabangama-300 usenokuba ngumthwali we-genetic variant okanye i-mutation ebangela isifo seTay-Sachs. Nangona kunjalo, inani labantwana abazalwa nesifo seTay-Sachs liphantsi kakhulu. Ke ngoko, sithathwa njengesifo esingaqhelekanga . Ukwazisa, imfundo, kunye novavanyo lwe-genetic kuye kwanceda ekunciphiseni ukusasazeka kwesi sifo phakathi kwabantu abasengozini.

Zithini iimpawu zesifo sikaTay-Sachs?

Iimpawu zesifo sikaTay-Sachs ziyahluka ngokuxhomekeke kubudala bomntwana. Esi sifo siyaqhubeka njengoko umntwana ekhula. Enye yeempawu eziphambili ezibonwa ebantwaneni kukungaphumeleli ukuhlangabezana nemigangatho yophuhliso okanye ukulibala izakhono abazifundileyo nabazenzileyo ngaphambili.

Iimpawu ze-Classic Infantile Tay-Sachs

Iimpawu ezinokubonakala kwizigaba zokuqala (malunga neenyanga ezi-6):

• Ubuthathaka bemisipha .
• Ubunzima bokujika intamo, ukuhlala phantsi, okanye ukuguqa.
• Ukothuka lula ziingxolo ezinkulu.

Njengoko isifo siqhubeka (ngaphambi konyaka), iimpawu ezifana nezi zinokubonakala:

• Ukufinyela kwezihlunu ngokungazikhetheliyo, okuvakala ngathi kuyaxhuzula - sikubiza ngokuba kukuxhuzula kwemisipha okubizwa ngokuba yi-myoclonic jerks.
• Ukuba nesithuthwane (ukuxhuzula).
• Ubunzima bokuginya ukutya bukwabizwa ngokuba yi-dysphagia.
• Ukulahlekelwa kukubona .
• Ukulahlekelwa kukuva.
• Oogqirha baphawula ibala elibomvu njengetsheri emehlweni ngexesha lovavanyo.
• Iintsholongwane zokuphefumla ezixhaphakileyo.

Xa umntwana eneminyaka emi-2 ubudala, imeko iba mandundu kangangokuba umntwana usenokungakwazi ukumelana nayo . Oku kuthetha ukuba uninzi lomsebenzi wobuchopho uyalahleka. Umntwana uhlala esweleka phakathi kweminyaka emi-2 neyi-4 ubudala. Eyona nto ixhaphakileyo yokufa ngenxa yesifo sikaTay-Sachs ebuntwaneni lusulelo lwemiphunga olufana ne -pneumonia .

Iimpawu zolutsha uTay-Sachs

Emva kweminyaka emi-5, abantwana abafunyaniswe benesifo sikaTay-Sachs ebuntwaneni banokuba neempawu ezifana nezi:

• Ubuthathaka bemisipha okanye ukungakwazi ukulawula imisipha.
• Usulelo oluqhelekileyo.
• Ubunzima bokuthetha nolwimi (umz., amagama angacaciyo, ukungakwazi ukuthetha ngokucacileyo).
• Ukulibala izinto ebezifundwe ngaphambili.
• Utshintsho kwindlela yokuziphatha kunye neemvakalelo (umz., ukuba nomsindo ngequbuliso, ukuba lusizi).
• Ukuphazamiseka kwamehlo nokuva.
• Ukuba nesithuthwane (ukuxhuzula).

Le meko idla ngokuqhubeka kancinci kancinci ide ifikelele kwiminyaka yobutsha, apho inokukhokelela ekufeni.

Iimpawu zeTay-Sachs eziqala emva kwexesha

Abantu abadala abafunyaniswe benesifo sikaTay-Sachs esiqala kade banokufumana iimpawu ezifana nezi:

• Ubuthathaka bemisipha kunye nokuqaqamba kwemisipha.
• Ukulahlekelwa yibhalansi - ekwabizwa ngokuba yi-ataxia - okanye ubunzima bokuhamba.
• Ubunzima bokuthetha nokuginya .
• Ukuvela kweengxaki zengqondo ezifana ne -psychosis okanye ezinye iimeko zempilo yengqondo .

Nangona kunjalo, olu hlobo lokuqalisa emva kwexesha aludli ngokuchaphazela ngokuthe ngqo ubomi bomntu.

Yintoni ebangela isifo sikaTay-Sachs?

Eyona nto ibangela isifo sikaTay-Sachs kukutshintsha kwezakhi zofuzo (uguquko) kwi-HEXA gene . Cinga ngayo le HEXA gene ifana nencwadi enika imiyalelo kwiiseli zethu. Le ncwadi iqulethe imiyalelo yokwenza i-enzyme ebizwa ngokuba yi -hexosaminidase A. Le hexosaminidase A enzyme ifana nomsebenzi emzimbeni wethu. Umsebenzi wayo kukuqhekeza nokususa ezinye izinto eziyingozi, ezinobuthi (ingakumbi izinto ezinamafutha) eziqokelelana emzimbeni. Ngoku, kwenzeka ntoni ukuba le enzyme ayiveliswanga kakuhle okanye ukuba ayisebenzi kakuhle ngenxa yesiphene kwi-HEXA gene? Loo nto inobungozi inamafutha iqala ukuqokelelana ngaphakathi kweeseli, njengenqwaba yenkunkuma . Oku kubangela umonakalo kwiiseli kwingqondo nakwintambo yomqolo, kwaye ekugqibeleni ezo seli ziyafa. Yiyo loo nto ibangela iimpawu zesifo sikaTay-Sachs.

Isifo sikaTay-Sachs sizuzwa njani njengelifa? Kuthetha ukuthini ukuhlaselwa yi-autosomal recessive?

Isifo sikaTay-Sachs sisifo esibangelwa yi-autosomal recessive . Ngamafutshane, oku kuthetha ukuba ukuze umntwana abe nesifo sikaTay-Sachs, umntwana kufuneka afumane iikopi ezimbini ezineempazamo ze-HEXA gene. Sonke sineekopi ezimbini ze-gene nganye, enye evela kumama wethu kunye nenye evela kutata wethu. Isifo sikaTay-Sachs senzeka kuphela ukuba bobabini abazali bangabathwali be-gene ye-HEXA eneempazamo kwaye badlulisela zombini ezo jeni zineempazamo kumntwana wabo. Emva koko zombini iikopi zomntwana ze-gene ye-HEXA azisebenzi kakuhle. Ngamanye amaxesha oogqirha babiza le meko ngokuba yi-hexosaminidase A deficiency, okanye i-hex A deficiency.

Ngubani umqhubi weTay-Sachs?

Umthwali ngumntu onekopi enye esebenzayo ye-HEXA gene kunye nekopi enye enesiphako . Sonke sizuza iikopi ezimbini ze-gene (enye ivela kwiqanda likamama wethu, enye ivela kwidlozi likatata wethu). Abathwali abafumani sifo okanye babonise iimpawu.Kuba imizimba yabo ingasebenzisa loo jini inye esebenzayo ukwenza i-enzyme efunekayo. Ngoku khawucinge ngabantu ababini abanolu tshintsho lwejini (abathwali ababini) bedibana ukuze babe nomntwana. Amathuba okuba loo mntwana abe nale meko ngala alandelayo:

• Kukho ithuba elingama-25% (inye kwabane) lokuba umntwana akayi kuzuza ilifa le-HEXA enesiphako. Oku kuthetha ukuba umntwana akayi kuba nesifo seTay-Sachs okanye abe ngumthwali waso.
• Kukho ithuba elingama-50% (inye kwababini) lokuba umntwana azuze ilifa le-gene enesiphene kumzali omnye. Umntwana uya kuba ngumthwali, kodwa akayi kuba nesifo seTay-Sachs. Njengomthwali, unokudlulisela i-gene kubantwana bakhe kwixesha elizayo.
• Kukho ithuba elingama-25% (umnye kwabane) lokuba umntwana azuze ilifa le-gene enesiphene kubazali bobabini. Kulapho ke umntwana aza kuba nesifo seTay-Sachs.

Kufana nokuphosa ingqekembe. Zonke ezi zinto zintathu zichaphazela ngokulinganayo ukukhulelwa ngakunye.

Ziziphi izinto ezibangela umngcipheko wesifo sikaTay-Sachs?

Umntwana usemngciphekweni omkhulu wokufumana isifo seTay-Sachs kuphela ukuba abazali bakhe bobabini bangabathwali botshintsho lwezakhi zofuzo . Nabani na unokuba ngumthwali wotshintsho lwezakhi zofuzo. Nangona kunjalo, le meko ixhaphake kakhulu kumaqela athile eentlanga. Umzekelo, abantu base-French-Canada, eMpuma Yurophu, okanye abavela kwimvelaphi yamaJuda ase-Ashkenazi banamathuba amaninzi okufumana olu tshintsho lwezakhi zofuzo. Phantse omnye kwabangama-30 kubo unokuba ngumthwali.

Ziziphi iingxaki zesifo sikaTay-Sachs?

Abantwana abanesifo sikaTay-Sachs bafa besebancinci . Njengoko esi sifo siqhubeka, ixesha lokuphila komntwana liyehla.

Isifo sikaTay-Sachs sifunyanwa njani?

Ugqirha uxilonga isifo sikaTay-Sachs ngovavanyo lwegazi . Kolu vavanyo, ugqirha uthatha isampuli encinci yegazi esithendeni somntwana wakho okanye emthanjeni osesandleni. Emva koko isampuli yegazi ivavanywa ukuze kujongwe inqanaba le-enzyme i-hexosaminidase A. Kumntwana onesifo sikaTay-Sachs esemncinci, le protein ayifumaneki kwaphela okanye inciphe kakhulu. Abantu abanezinye iintlobo zesifo nabo banamanqanaba aphantsi esi enzyme. Ukongeza, ugqirha unokwenza uvavanyo lwamehlo ukuze ajonge indawo ebomvu-yecherry emehlweni omntwana wakho.

Ngaba isifo sikaTay-Sachs sinokufunyaniswa ngexesha lokukhulelwa?

Ewe, kukho iimvavanyo ezimbini ezikhethekileyo ezinokubona isifo sikaTay-Sachs ngexesha lokukhulelwa:

• Uvavanyo lwe-Amniocentesis: Kolu vavanyo, ugqirha uthatha isampuli encinci yolwelo lwe-amniotic olujikeleze umntwana esibelekweni sakho aze aluvavanye.
• Uvavanyo lweChorionic Villus Sampling (CVS): Kolu vavanyo, ugqirha uthatha iqhekeza elincinci lesicwili kwi-placenta aze alihlole.

Zombini ezi mvavanyo zikhangela i-enzyme i-hexosaminidase A. Ukuba amanqanaba ale enzyme kwiisampuli zovavanyo aphantsi kunesiqhelo, ugqirha uya kufumanisa ukuba umntwana osesibelekweni unesifo sikaTay-Sachs. Ukongeza, ezi sampuli zingasetyenziselwa ukwenza uvavanyo lwemfuza ukuze kuqinisekiswe ukuba kukho utshintsho kwi-gene ye-HEXA ebangela esi sifo.

Isifo sikaTay-Sachs sinyangwa njani?

Unyango lwesifo sikaTay-Sachs lukhathalelo oluxhasayo, olunceda ukulawula iimpawu zomntwana . Umzekelo, ugqirha angakunika amayeza okulawula ukuqala kokuxhuzula. Kubalulekile nokuqinisekisa ukuba umntwana wondlekile kwaye umanzi . Iqela lezonyango liya kumenza umntwana akhululeke kwaye angabi nantlungu kangangoko kunokwenzeka. Ukongeza, oogqirha baya kukunceda wena nosapho lwakho nilungiselele ukulahlekelwa ngumntwana wakho. Banokukuthumela kumcebisi wezempilo yengqondo okanye kwiqela lenkxaso yokufelwa .

Unyango lwesifo sikaTay-Sachs esiqala emva kwexesha

Abantu abadala abanesifo seTay-Sachs abasandula ukuqala baneendlela ezilandelayo zonyango zokulawula iimpawu zabo:

• Ukusebenzisa izixhobo zokuncedisa okanye izinto ezifana nesitulo esinamavili ukukunceda usebenze ngokuzimela kwaye uhambehamba.
• Ukuthatha amayeza okunceda xa uneengxaki zempilo yengqondo okanye xa unemisipha ebuhlungu.
• Unyango lokuthetha.

Ngaba ikho indlela yokunyanga isifo sikaTay-Sachs ngokupheleleyo?

Hayi, okwangoku akukho nyango lwesifo sikaTay-Sachs. Le yinyaniso ebuhlungu kakhulu.

Ngaba isifo sikaTay-Sachs singathintelwa?

Okwangoku akukho ndlela eyaziwayo yokuthintela isifo sikaTay-Sachs. Nangona kunjalo, ukuba ufuna ukwazi umngcipheko wakho wokuba nomntwana onesimo semfuza esifana nesikaTay-Sachs, thetha nogqirha wakho malunga neengcebiso zokukhulelwa kwangaphambi kokukhulelwa kunye novavanyo lwemfuza ngaphambi kokuba ucebe ukuba nomntwana . Ugqirha wakho unokukunceda ucwangcise ukukhulelwa kwixesha elizayo.

Iyintoni imbonakalo yesifo sikaTay-Sachs?

Isifo sikaTay-Sachs sibulala iintsana nabantwana abancinci. Iqela lezonyango lomntwana wakho liza kuthetha nawe malunga nenkxaso kunye nokhathalelo ekupheleni kobomi . Liza kubonelela nangesikhokelo kubazali, abanakekeli, kunye namalungu osapho malunga nendlela yokujongana nokulahlekelwa ngumntwana. Iintsapho ezininzi zifumana intuthuzelo enkulu xa zithetha nomcebisi wezempilo yengqondo okanye ukuya kwiqela lenkxaso yosizi.

Kutheni isifo sikaTay-Sachs sibulala?

Isifo sikaTay-Sachs siyabulala kuba iiseli ezikwingqondo yomntwana wakho kunye nomqolo wakhe ziyabola kwaye ziyafa.. Iiseli zidlala indima ebaluleke kakhulu ekugcineni imizimba yethu isebenza ngokufanelekileyo. Kwisifo sikaTay-Sachs, utshintsho lwemfuza lubangela ukuba iiseli zifumane imiyalelo engachanekanga. Ngenxa yoko, iiseli azikwazi ukwenza umsebenzi wazo ngokufanelekileyo. Ekugqibeleni, ezi seli, ezibalulekileyo kubomi bomntwana, ziyatshatyalaliswa. Amaxesha amaninzi, abantwana abanesifo sikaTay-Sachs bafa ngenxa yosulelo lwemiphunga, olubizwa ngokuba yi-pneumonia . Ngenxa yokuba iiseli zomntwana zingasebenzi ngokufanelekileyo, amajoni omzimba awo awakwazi ukulwa nosulelo aze agcine umntwana esempilweni.

Ingakanani iminyaka yobomi bomntu onesifo sikaTay-Sachs?

Abantwana abanesifo sikaTay-Sachs besebancinci badla ngokufa ngaphambi kokuba bafikelele kwiminyaka emi-5 ubudala. Abantwana abadala kunye nabantu abadala abaselula abanesifo sikaTay-Sachs ebuntwaneni banokuphila baze babe badala. Isifo sikaTay-Sachs esiqala emva kwexesha asichaphazeli ngokuthe ngqo ubomi bomntu omdala.

Ngaba isifo sikaTay-Sachs sinokunyangeka?

Hayi. Abantwana abanakunyangwa kwisifo sikaTay-Sachs. Unyango lwenzelwe ukwenza umntwana akhululeke kwaye lunciphise ukuqhubela phambili kwesi sifo.

Ndingamnyamekela njani umntwana wam onesifo sikaTay-Sachs?

Eyona ndlela ilungileyo yokunyamekela umntwana wakho kukulawula iimpawu zakhe nokumenza azive ekhululekile kangangoko . Iqela lakho lezonyango liza kukunika isikhokelo kunye nonyango kule miba:

• Ukuphefumla: Abantwana abaninzi abanesifo sikaTay-Sachs banengxaki yokuphefumla. Banokuba nosulelo lwemiphunga kuba banamathe amaninzi kwaye kunzima nokuginya. Amayeza ahlukeneyo, izixhobo, okanye ukubeka umntwana endaweni ethile kunokubanceda baphefumle lula.
• Isondlo: Ingcali yezifo zolwimi lokuthetha ingafundisa umntwana wakho iindlela zokumnceda atye aze asele. Njengoko ukuginya kusiba nzima, umntwana wakho unokufuna ityhubhu yokumtyisa .
• Ukuxhuzula: Ingcali yezifo zengqondo ingakunceda ufumane isicwangciso sonyango esifanelekileyo sokulawula ukuxhuzula kwakho.
• Ukuvuselela iimvakalelo: Abantwana abaneTay-Sachs baneengxaki ezithile zeemvakalelo (iingxaki zeemvakalelo ezintlanu). Ungavuselela iimvakalelo zabo usebenzisa izinto ezifana nomculo, ii-mobiles, amavumba athomalalisayo, kunye neendwangu ezithambileyo.

Ndifanele ndimbone nini ugqirha?

Thetha nogqirha wakho kwezi meko zilandelayo:

• Ukuba uceba ukukhulelwa: Ukuba ucinga ngokukhulelwa kwaye usengozini enkulu yokudlulisela isifo sikaTay-Sachs kumntwana wakho, thetha nogqirha wakho. Umngcipheko ongakumbi unokuba kukuba wena okanye iqabane lakho ninembali yentsapho yesifo sikaTay-Sachs, okanye ukuba omnye wenu okanye nobabini nithwala isifo sikaTay-Sachs. Uvavanyo lwemfuza luyafumaneka kwabo basengozini enkulu yokuba nomntwana onesifo sikaTay-Sachs.Kungenziwa.
• Ukuba unexhala ngexesha lokukhulelwa: Ukuba ukhulelwe kwaye unexhala malunga nempilo yomntwana wakho ongekazalwa, bona ugqirha wakho.
• Ukuba umntwana wakho ubonakalisa iimpawu: Ukuba ucinga ukuba umntwana wakho akafikeleli kwinqanaba lokukhula ngexesha okanye ubonakalisa iimpawu zikaTay-Sachs, thetha nogqirha wakhe.

Ndingayibuza yiphi imibuzo ugqirha wam?

Ukuba usemngciphekweni omkhulu wokuba nomntwana onesifo sikaTay-Sachs, buza ugqirha wakho le mibuzo:

• Ndinomdla wokufumana iingcebiso ngaphambi kokuba ndikhulelwe , ndingenza ntoni?
• Ndingawunciphisa njani umngcipheko wokuba nomntwana onesifo sikaTay-Sachs?
• Kuza kwenzeka ntoni ukuba mna neqabane lam sobabini singabathwali beziyobisi ?
• Luluphi unyango olucebisa umntwana wam?
• Ndingambamba njani umntwana wam ngokukhululeka?
• Ungacebisa iingcebiso ngentlungu okanye iqela lenkxaso yabantu abaswelekelweyo ?

Ingaba isifo sikaSandhoff sifana nesifo sikaTay-Sachs?

Ewe, iimpawu kunye nokuqhubela phambili kwesifo sikaSandhoff ziyafana nesifo sikaTay-Sachs. Esi sikwayimeko yelifa. Isifo sikaTay-Sachs sinxulumene ne-enzyme ebizwa ngokuba yi-hexosaminidase A. Isifo sikaSandhoff sinxulumene ne-hexosaminidase A kunye nenye i-enzyme ebizwa ngokuba yi-hexosaminidase B.

Okokugqibela, khumbula oku.

Isifo sikaTay-Sachs sinzima kakhulu kwaye sibuhlungu kakhulu. Oko ukuvayo kuyaqondakala. Ngeli xesha linzima, nazi ezinye izinto ezinokukunceda:

• Musa ukubandezeleka wedwa. Oku kunzima ukujongana nako wedwa. Cela uncedo koogqirha, abahlengikazi, usapho lwakho, kunye nabahlobo abanyanga umntwana wakho. Ukuba uziva uxinezelekile, ungoyiki ukufumana umcebisi okanye ujoyine iqela lenkxaso elinabazali abanamava afana nawakho.
• Umntwana wakho uza kunyanyekelwa kakuhle. Nokuba isifo siya sibi, oogqirha baza kwenza konke okusemandleni abo ukwenza umntwana wakho akhululeke kwaye angabi nantlungu kangangoko kunokwenzeka. Ungakuthemba oko.

Oku kubaluleke kakhulu: Ukuba ucinga ngokuba nomntwana kwakhona, qiniseka ukuba wenza uvavanyo lwemfuza ngaphambi kokuba ube nomntwana . Fumana ingcebiso ngayo. Emva koko unokwazi yonke into kwaye wenze isigqibo esifanelekileyo njengosapho.

Ndiyathemba ukuba olu lwazi luza kukunceda. Ukuba ufuna ulwazi oluthe kratya, ungoyiki ukubuza ugqirha wakho.