Ukwelashwa esibelethweni: Impumelelo yezokwelapha ngaphambi kokuzalwa

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• Igama lomlobi

  I-Quantumrun Foresight
• Mashi 4, 2024

Isifinyezo sokuqonda

Ukwelashwa esibelethweni kuguqula indlela yokwelapha izifo zofuzo, ukunikeza izindlela zokwelapha ngaphambi kokuzalwa ukuze kuvinjelwe noma kuncishiswe umonakalo odalwa yilezi zimo. Lezi ntuthuko azithembisi kuphela imiphumela engcono yezempilo kubantu ngabanye kodwa futhi zinemithelela ehlukahlukene ekunakekelweni kwezempilo, umshwalense, nezinqubomgomo zokuziphatha. Ukwamukelwa okukhulayo kokwelashwa okunjalo kungase kubangele izinguquko emikhakheni ehlukahlukene, kusukela ocwaningweni lwezokwelapha kuye kuzinhlaka zezomthetho.

Umongo wokwelapha esibelethweni

Ukwelashwa esibelethweni kumelela intuthuko enkulu, ikakhulukazi ekwelapheni izifo zofuzo. Inqubo ngokuvamile ihilela ukuletha ngokuqondile izinto zokwelapha, njengama-enzyme noma izidakamizwa, ku-fetus, ngokuvamile ngomthambo we-umbilical. Le ndlela isanda kuthola ukunakwa ngenxa yamandla ayo okwelapha izifo ngaphambi kokuzalwa kwengane, okungenzeka inciphise noma ivimbele umonakalo odalwa yizimo ezithile zofuzo.

Isibonelo esishukumisayo salobu buchwepheshe bunomthelela endabeni ka-Ayla, umntwana osacathula owatholakala enesifo se-Pompe sosana, isifo sofuzo esingandile. Lesi simo, esithinta ingane engaphansi ko-1 kweziyi-138,000 emhlabeni jikelele, siholela ekulimaleni kwesitho esiqala ngaphambi kokuzalwa, okuthinta kakhulu inhliziyo nemisipha. Ngokwesiko, ukwelashwa kwesifo sikaPompe kuqala ngemva kokuzalwa, kodwa lokhu kubambezeleka kungavumela ukulimala kwesitho esingalungiseki ukuba kwenzeke. Kodwa-ke, ukwelashwa kuka-Ayla kwaqala esibelethweni njengengxenye yokuhlolwa komtholampilo, okwaholela ekubeni abe nenhliziyo evamile futhi afinyelele izilinganiso zokuthuthuka, njengokuhamba. 

Ucwaningo lunwetshiwe ukuze luhlanganise nezinye izifo zofuzo ezingavamile, njenge-X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED). Lesi simo, esithinta cishe izingane ezi-4 kwezingu-100,000 zabesilisa ezizalwa minyaka yonke, siholela ekubonakaleni okuhlukahlukene okungokomzimba ngenxa yokukhula okungavamile kwesikhumba, izindlala zomjuluko, nezinye izicubu. Ngo-2016, kwenziwa igxathu elibalulekile lapho abafana abangamawele abane-XLHED bethola ukwelashwa kwasesiswini, okuholele ekutheni bakwazi ukujuluka ngendlela evamile futhi babonise ukukhiqizwa kwamathe okuthuthukisiwe nokuthuthukiswa kwamazinyo. 

Umthelela ophazamisayo

Njengoba lezi zindlela zokwelapha ziba ngcono kakhulu futhi zisetshenziswa kabanzi, zingase zinciphise izindleko zokunakekelwa kwezempilo impilo yonke ezihlobene nokulawula izimo zofuzo ezingamahlalakhona. Ukungenelela kusenesikhathi kungasho ukulaliswa esibhedlela okuncane kanye nokungenelela kwezokwelashwa kuyo yonke impilo yesiguli, okuholela ekwabiweni okuphumelelayo kwezinsiza zokunakekelwa kwezempilo. Ukwengeza, impumelelo yalezi zindlela zokwelapha ingase ikhuthaze ukutshalwa kwezimali okwengeziwe kanye nocwaningo emithini yabakhulelwe, okungase kuholele ekwelashweni okusha kohlu lwezinkinga zofuzo.

Ukufika kwemithi yokwelapha esibelethweni kumelela ushintsho oluya ekunakekelweni kwezempilo okusebenzayo nokuvikela. Isibonelo, ukwelapha izimo ezifana ne-XLHED ngaphambi kokuzalwa kungavimbela ezinye zezimpawu eziyinselele kakhulu, njengezinkinga zezindlala zokujuluka nokukhula kwamazinyo. Ngokuhamba kwesikhathi, laba bantu bangase babe nemikhawulo embalwa ehlobene nempilo kanye nomthwalo ongokwengqondo oncishisiwe ohlobene nokuphatha isimo esingelapheki.

Ezingeni likahulumeni, impumelelo yokwelashwa kwasesiswini ingaholela ekuguqulweni kwenqubomgomo kanye nezinhlaka ezintsha zokunakekelwa kwangaphambi kokubeletha. Ohulumeni nezinhlangano zezempilo kungase kudingeke ukuthi zicabangele ukubukeza imihlahlandlela nezinqubomgomo zoxhaso ukuze zisekele lokhu kwelashwa. Lokhu kubuyekezwa kungaholela ekuhlolweni okubanzi kwezimo zofuzo kanye nokwanda kokufinyelela ekwelashweni kwangaphambi kokubeletha, ekugcineni kube nomthelela emphakathini onempilo. Ngaphezu kwalokho, impumelelo yalokhu kwelashwa ekuvimbeleni ukukhubazeka impilo yonke ingaba nezinzuzo ezibanzi zezomnotho, okuhlanganisa nokunciphisa isidingo sokunakekelwa okukhethekile nezinsizakalo zokweseka kanye nokukhulisa amandla okuba abantu ngabanye banikele ngokugcwele emphakathini.

Imithelela yokwelapha esibelethweni

Imithelela ebanzi yokwelashwa kwasesiswini ingase ihlanganise: 

• Ukwanda kwesidingo sezinsizakalo zokwelulekwa ngofuzo, okuholela ekwandeni kwalo msebenzi kanye nezinhlelo zemfundo ezikhethekile.
• Izinqubomgomo zomshwalense wezempilo ezivumelanisa ukukhokhela ukwelashwa kofuzo ngaphambi kokubeletha, okuholela ekuhlinzekeni ngokunakekelwa kwezempilo okubanzi kubazali abakhulelwe.
• Ushintsho ocwaningweni lwezemithi nentuthuko lugxile ekwelapheni ngaphambi kokubeletha, okunomthelela emalini nasekwabiweni kwezinsiza.
• Imakethe ekhulayo yobuchwepheshe bokwelapha esibelethweni, okungenzeka iholele ekuqalisweni okusha namamodeli ebhizinisi emkhakheni we-biotech.
• Izinguquko ekubonweni komphakathi nasekuqondeni izifo zofuzo, okungenzeka kuncishiswe ukucwaswa nokwandisa ukwesekwa kwemindeni ethintekile.
• Ukwanda kokuhlolwa ngaphambi kokubeletha, okuholela ezinqumweni zokuzala ezinolwazi oluthe xaxa kanye nezinguquko kumazinga okuzalwa ezimo ezithile zofuzo.
• Ukubambisana okuthuthukisiwe phakathi kodokotela bokubelethisa, izazi zofuzo, nodokotela bezingane, okukhuthaza izindlela ezihlukene zokunakekelwa kwezempilo.
• Ukucatshangelwa okusha kwezomthetho nezimiso zokuziphatha mayelana nemvume kanye nokwenziwa kwezinqumo ekwelashweni kwangaphambi kokubeletha, okuthonya izinqubomgomo zokunakekelwa kwezempilo kanye namalungelo esiguli.

Imibuzo okufanele icatshangelwe

• Ukwamukelwa okwandile kokwelashwa kwasesiswini kungase kuguqule kanjani izindinganiso zethu zomphakathi nesimo sengqondo ngabantu abanezinkinga zofuzo?
• Yiziphi izici zokuziphatha okufanele zibekwe phambili lapho kunikezwa ukwelashwa kofuzo ngaphambi kokubeletha?