Ngaba umntwana wakho unesifo sikaTay-Sachs? (Isifo sikaTay-Sachs) - Masithethe ngale nto

Akukho nto ivuyisa ngaphezu kokubukela usana olusandul’ ukuzalwa. Kodwa njengoko olo sana lukhula, luqengqeleka njengabanye abantwana, lungahlali phantsi, luze luvuke ngesandi esincinci, kunzima ukuchaza uloyiko kunye nokuxhalaba okuviwa ngumama okanye ngutata. Namhlanje sithetha ngesifo esingaqhelekanga semfuza esiphula iintliziyo zabazali abanjalo, kodwa kufuneka siqaphele. Eso sisifo sikaTay-Sachs.

Ngamafutshane, yintoni isifo sikaTay-Sachs?

I-Tay-Sachs sisifo semfuza esidluliselwa kwizizukulwana ngezizukulwana, sonakalisa ii-neurons kwingqondo yomntwana wethu kunye nomqolo, ekugqibeleni zitshabalalise ezo seli. Cinga ngayo njengomzi-mveliso emzimbeni wethu. Le fektri ine-enzyme ekhethekileyo yokususa inkunkuma engeyomfuneko (izinto ezinetyhefu). Okwenzekayo kwisifo se-Tay-Sachs kukuba le enzyme ayiveliswa. Emva koko loo nkunkuma, oko kukuthi, into enamafutha, iqala ukuqokelelana ngaphakathi kwiiseli zemithambo-luvo. Ezi zinto zinetyhefu ziyaqokelelana kwaye zonakalise iiseli zemithambo-luvo.

Esi sisifo esiqhubekayo, esineempawu eziya zisiba mandundu ukusuka ebuntwaneni ukuya ebuntwaneni. Okubuhlungu kukuba, abantwana bafa besebancinci kakhulu ngenxa yesi sifo. Akukho nyango okwangoku. Nangona kunjalo, kukho unyango olunokunceda ukunciphisa iimpawu kwaye lugcine umntwana ekhululekile kangangoko.

Ziziphi iintlobo eziphambili zesifo sikaTay-Sachs?

Esi sifo sahlulwe saba ziintlobo ezintathu eziphambili ngokusekwe kwiminyaka apho iimpawu ziqala ukubonakala khona. Ukuze kube lula ukuqonda, masijonge ngale ndlela.

Okubalulekileyo kukuba, olu hlobo lwesifo ludluliselwa kwizizukulwana ngezizukulwana kwiintsapho ngendlela efanayo. Umzekelo, ukuba umntwana omnye uba nesifo sosana, abanye abantwana kusapho abakho sengozini yokufumana esi sifo xa sele siqalile.

Zithini iimpawu zesifo sikaTay-Sachs?

Iimpawu ziyahluka ngokuxhomekeke kubudala bomntwana kunye nohlobo lwesifo. Siza kugxila kuhlobo oluqhelekileyo lweempawu ezibonwa ebuntwaneni (iClassic Infantile).

Iimpawu zeClassical Infant Symptoms

• Iimpawu zokuqala (malunga neenyanga ezi-6):
• Ubuthathaka bemisipha.
• Ubunzima bokuqengqeleka, ukuhlala phantsi, okanye ukukhasa.
• Ingxolo enkulu ngequbuliso ibangela ukushukuma okukhulu.

• Ngexesha lokwanda kwesi sifo (ngaphambi konyaka):
• Ukujijeka kwemisipha ngokunganyanzelekanga (ukujijeka kwe-myoclonic).
• Ukuxhuzula.
• Ubunzima bokuginya ukutya (dysphagia).
• Ukulahlekelwa kancinci kancinci kokubona nokuva.
• Xa ugqirha ehlola amehlo, ubona ibala elibomvu njengetsheri kwi-retina yeliso. Olu luphawu oluphawulekayo lwesi sifo.
• Izifo zokuphefumla ezixhaphakileyo (umz. i-pneumonia).

Xa eneminyaka emibini ubudala, esi sifo silawule umntwana ngokupheleleyo. Umntwana usenokungena kwimeko yokungaphenduli. Oku kuthetha ukuba uninzi lomsebenzi wobuchopho uyalahleka. Okubuhlungu kukuba, aba bantwana badla ngokufa phakathi kweminyaka emi-2 neyi-4 ubudala. Unobangela wokufa udla ngokuba lusulelo olukhulu olufana ne-pneumonia.

Iimpawu ebuntwaneni nasebudaleni

Ezi azixhaphakanga kakhulu, ngoko makhe sijonge kancinci.

• Ubuntwana: Iimpawu ziquka ubuthathaka bemisipha, ubunzima bokuthetha, ukulibala izinto ezifundiweyo, utshintsho kwindlela yokuziphatha, kunye nokuxhuzula.
• Ukuqala kade:Ubuthathaka bemisipha kunye nokungcangcazela, ubunzima bokuhamba (ataxia), ubunzima bokuthetha nokuginya, kunye neengxaki zengqondo (psychosis) zinokubakho.

Kutheni oku kusenzeka? Yintoni unobangela?

Isifo sikaTay-Sachs sibangelwa kukuguquka kwezakhi zofuzo ekuthiwa yiHEXA . Ngamafutshane, lutshintsho oluncinci kwizakhi zofuzo.

Ezi jini zinika imiyalelo kwiseli nganye emzimbeni wethu. Ijini ye-HEXA inika imiyalelo yokwenza i-enzyme ethi `hexosaminidase A` ebesithethe ngayo ngaphambili. Xa ijini iguquguquka, le enzyme ayiveliswa. Emva koko ezo zinto zinamafutha anetyhefu ziyaqokelelana kwiiseli zemithambo-luvo zize zizitshabalalise.

Oku kungenziwa njani njengelifa ngumntwana?

Oku kunzima ukukuqonda, kodwa kubaluleke kakhulu. Isifo sikaTay-Sachs sizuzwe njengelifa kwi -autosomal recessive pattern. Oku kuthetha ukuba ukuze umntwana akhule esi sifo, kufuneka azuze esi jini se-HEXA esiguquliweyo kumama nakutata wakhe.

Cinga ngale ndlela. Wonke umntu unekopi ezimbini zejini nganye. Enye ivela kunina, enye ivela kuyise.

• Ngubani umthwali?: Umthwali ngumntu onekopi enye yejini ye-HEXA esempilweni kwaye enye ikopi eguqukileyo. Aba bantu abafumani sifo okanye babonise iimpawu kuba ikopi ephilileyo yejini yenza i-enzyme efunekayo. Nangona kunjalo, banokudlulisela ijini eguqukileyo kubantwana babo.

Ngoku, jonga into enokwenzeka emntwaneni ukuba abazali bobabini banesi sifo :

• Kukho ithuba elingama-25% (inye kwabane) lokuba umntwana azuze ii-genes eziphilileyo kuphela kubazali bobabini. Emva koko umntwana uya kuba sempilweni kungekhona umthwali.
• Kukho ithuba elingama-50% (inye kwababini) lokuba umntwana afumane i-gene eguquliweyo komnye umzali kunye ne-gene ephilileyo komnye . Umntwana uya kuba ngumthwali, kodwa akayi kuba nesifo.
• Kukho ithuba elingama-25% (inye kwabane) lokuba umntwana azuze zombini ii-genes eziguquliweyo kubazali bobabini . Loo mntwana uya kuba nesifo seTay-Sachs.

Indlela yokuxilonga esi sifo?

Ukuba ugqirha urhanela ukuba unesifo sikaTay-Sachs, uza kwenza uvavanyo lwegazi ukuze aqinisekise ukuba unesifo.

• Uvavanyo lwegazi: Kuthathwa isampulu yegazi lomntwana kwaye kulinganiswa inqanaba le-enzyme ebizwa ngokuba yi-`hexosaminidase A`. Umntwana onesifo seTay-Sachs unezinga eliphantsi kakhulu okanye alikho kwaphela le-enzyme.
• Uvavanyo lwamehlo: Ugqirha uza kuhlola amehlo omntwana aze ajonge ibala elibomvu njengetsheri esilikhankanyileyo ngaphambili.

Ngaba oku kungafunyanwa ngexesha lokukhulelwa?

Ewe. Kukho iimvavanyo ezimbini ezikhethekileyo ezinokubona esi sifo kwangethuba ngexesha lokukhulelwa. Ezi zivamise ukwenziwa kubazali abasengozini enkulu yokuhlaselwa sesi sifo.

1. I-Amniocentesis:Isampuli yolwelo lwe-amniotic olujikeleze umntwana esibelekweni iyathathwa ize ivavanywe.

2. I-Chorionic Villus Sampling (CVS): Iqhekeza elincinci kakhulu lesicwili liyathathwa kwi-placenta lize lihlolwe.

Zombini ezi mvavanyo zijonga inqanaba le-enzyme ethi `hexosaminidase A`. Ukuba elo nqanaba liphantsi, kunokufunyanwa ukuba umntwana unesifo.

Unyango kunye nokhathalelo lomntwana

Ndiyazi ukuba oku kumele ukuba kungumthwalo omkhulu kuwe. Akukho nyango lwesifo sikaTay-Sachs okwangoku. Nangona kunjalo, zininzi izinto onokuzenza ukunceda umntwana wakho azive engebuhlungu kangako kwaye engonwabanga kwaye umgcine ekhululekile kangangoko. Oku kubizwa ngokuba lukhathalelo oluxhasayo .

• Iingxaki zokuphefumla: Aba bantwana banokuba nobunzima bokuginya, nto leyo enokubangela ukuba basuleleke rhoqo emiphungeni. Amayeza, izixhobo ezikhethekileyo, kunye nokummisa kakuhle umntwana kunokunceda.
• Isondlo: Njengoko ubunzima bokuginya busanda, kunokufuneka ityhubhu yokutyisa.
• Ukuxhuzula: Kunikwa amayeza okulawula ukuxhuzula.
• Ukuvuselela iimvakalelo: Ekubeni izivamvo zomntwana ezintlanu zinqongophele, izinto ezifana nomculo othambileyo, amavumba, kunye nezinto zokudlala ezithambileyo zinokumthuthuzela umntwana.

Udinga nini ukubona ugqirha?

• Ukuba uceba ukuba nomntwana: Kubaluleke kakhulu ukufumana iingcebiso ngemfuza ngaphambi kokuba nomntwana, ingakumbi ukuba wena okanye iqabane lakho ninembali yentsapho yesifo sikaTay-Sachs, okanye ukuba ukrokrela ukuba nobabini ningabathwali. Cela ingcebiso kugqirha wakho ngale nto.
• Ngexesha lokukhulelwa: Ukuba unamathandabuzo okanye uxhalabile ngempilo yomntwana wakho, bonana nogqirha wakho ngoko nangoko.
• Ukuba ubona ingxaki ekukhuleni komntwana wakho: Ukuba ubona ukuba umntwana wakho akenzi izinto ebekufanele ukuba uzenza xa ekwiminyaka yakhe (njengokuqengqeleka, ukuhlala phantsi), thetha nogqirha wakho wabantwana ngaloo nto.

UTay-Sachs luxilongo olubuhlungu ngokwenene. Kodwa ngokuqaphela oku, ukuqonda iingozi, kunye nokufuna uvavanyo lwemfuza kwangethuba ukuba kuyimfuneko, sinokuthintela intlungu yentliziyo kwixesha elizayo.