Phila ongafi: indaba Charli Garda

Charlie Gard - umfana esuka UK, okuyinto idonse amehlo omhlaba nge isifo yayo ezingelapheki ebulalayo. Manje abazali bakhe ukuthi uzama ukuthola ukwelashwa zokuhlola, enethemba lokuthi bangasiza ngokufundisa indodana yabo ukunqoba isifo ezingavamile - "Ukuwohloka DNA," okuyinto ngokuvamile imbangela yokufa izinsana ezinyangeni zokuqala ezimbalwa ezimpilweni zabo. Kodwa yini ebangela ukuba lesi sifo futhi kungani ngokushesha lokho okuchitha umzimba izinsana?

Imiphumela yaloku kuhlola okungenhla womfana

Charlie Wazalwa ngo-August 4 ngonyaka odlule, kodwa kusukela ngo-Okthoba, ihlala esibhedlela esibhedlela eLondon, eGreat Ormond Street. Kuyaziwa ukuthi yomfana enezinyanga ezingu-11 ubudala akakwazi ukuphefumula bebodwa, awukwazi ukuzwa futhi abakwazi ukubona, futhi uhlushwa nokuquleka. Abazali bafuna ukuya naye e-United States ukuze uqalise ukwelashwa kokwazi, kodwa odokotela wengane ungavumelani. Zithi ukuphathwa ngeke ugcine ingane, futhi ngeke kuphela yelule yokuhlupheka kwakhe. Ongoti, ubani naso sonke lesi sikhathi babone Charlie, uthi: i-nomusa kakhulu, ukuthi bangakwenza - kuyinto ukucisha imishini esisekela ukuphila.

icala Charlie sika uqalisiwe kunenkulumompikiswano amalungelo abazali bakhethele nokwelashwa kwezingane zabo. izinkantolo British babe ohlangothini esibhedlela, futhi umphumela waba ukuthi Charlie kwadingeka ukuba ixhumeke kumsindo apharathasi 30 June. Nokho, abazali baye babuza odokotela ukuhlehlisa le nqubo, ukuze ube nesikhathi esengeziwe ngithi goodbye kuya ingane.

Kanjani DNA Ukuwohloka

Entsefalomiopatichesky mitochondrial DNA Ukuwohloka syndrome, wahlupheka umfana, kubangelwa ukuguquka kwezakhi zofuzo zofuzo ezisiza silondoloze DNA abakuthola ngaphakathi kwalo mitochondria (yeselula "izitshalo amandla"), okuyinto banesibopho ukuguqulela izakhi zibe amandla, kanye awayo DNA ezahlukene.

Endabeni Charlie kuguquka kwenzekile kwa-isakhi okuthiwa RRM2B. Uthatha nengxenye ekudalweni DNA mitochondrial. I kuguquka kubangela ukwehla inani DNA mitochondrial, futhi ayikuvumeli umsebenzi ngokuvamile mitochondria.

Lesi simo kuthinta ukusebenza kwezitho abaningi, ikakhulukazi ubuchopho, imisipha kanye nezinso, ezithinta high izidingo energy. Ngenxa yalokho yalesi sifo kuholela ukuba buthakathaka kwezicubu, microcephaly (ukunciphisa usayizi lwekhanda lalowo okhethwe ingane), izinso izinkinga, ukuquleka futhi ukulahlekelwa kukuzwa. Ubuthakathaka kwemisipha abahilelekile ukuphefumula, kungaba inkinga engathí sina, okuyinto okwenzeka Charlie. Umfana akakwazi ukuphefumula bebodwa.

Ubude bempilo kanye nokusatshalaliswa emhlabeni

Lesi sifo kukalutshwana kakhulu: ngaphambi Charlie u-15 kuphela izingane ezivela emhlabeni wonke abanale uphethwe efanayo, futhi lokho umfana ezaziwayo.

Izimpawu zesifo ziqala ukuvela kusenesikhathi. Endabeni Charlie, isibonelo, baqala ukuvela lapho lo mfana amasonto ambalwa nje. Futhi, abantwana abaphethwe kulesi simo ngokuvamile abakwazi ukusinda esewusana. Ngokusho kocwaningo ka 2008, izingane eziyisikhombisa sifo efanayo Charlie, wafa ngaphambi kokuba zifinyelele engu-izinyanga 4.

Ngeshwa, lokhu syndrome ezingelapheki. Into kuphela ukuthi ungenza odokotela - ukuhlinzeka ngosekelo ukunikezela noma ukusetshenziswa fan ukusiza nge ukuphefumula.

Kufanele Ngithemba ezithaka imithi zokuhlola

abazali Charlie sika ufuna ukuzama ukwelashwa zokuhlola ithonya endodaneni yakhe, - yokwelapha nucleoside nendaba DNA ezingeke wenziwe ngamangqamuzana angaba yayo. Ukuphumelela lokhu kwelashwa kuye kodwa kufanele ziqinisekiswe, nakuba ekuqaleni lalisetshenziselwa ezigulini eziye wahlushwa amafomu kancane ezinzima kakhulu lesi sifo, esaziwa ngokuthi TK2 wezakhi. Nokho, ukwelashwa akukaze isetshenzisiwe iziguli ukuguquka kwezakhi zofuzo RRM2B. Ngisho udokotela owaqala wayekulungele ukusiza Garda nge ukwelashwa zokuhlola, futhi kamuva waphoqeleka ukuba avume ukuthi le yokwelapha akunakwenzeka ukwelapha Charlie, njengoba ingane ezigabeni kamuva lesi sifo.

Muva nje, abameleli eSibhedlela Sezingane e-Italy, baye bahlongoza ukuhambisa Charlie kubo ukuhlinzeka ukunakekelwa kudingeke ukuba ogulayo, kodwa Isibhedlela London odokotela benqaba ukwenza kanjalo, omema yezizathu zomthetho. Boris Johnson, ngubani uNgqongqoshe Wezindaba Zangaphandle Great Britain, futhi wathi "lesi sinqumo liyalingana umbono uchwepheshe wezokwelapha, kusekelwa ezinkantolo", okuyinto lapho ecabangela eyinhloko izithakazelo ingane.