Live ayikwazi kufa: ibali Charli Garda

Charlie Gard - inkwenkwe evela UK, nto leyo eye itsale ingqalelo ngamazwe kunye nesifo sayo esinganyangekiyo obulalayo. Abazali bakhe bezama ukufumana unyango yokulinga, benethemba lokuba oko kunceda unyana kwabo kukwenza isifo onge - "kwamanani DNA," nto leyo edla unobangela wokufa ngenxa iintsana kwiinyanga zokuqala ezimbalwa zobomi babo. Kodwa yintoni ebangela esi sifo yaye kutheni le nto ngokukhawuleza kangaka utshabalalisa umzimba kweentsana?

isifo enkwenkwe

Charlie wazalwa ngo Agasti 4 kunyaka ophelileyo, kodwa ukususela ngo-Oktobha, yahlala esibhedlele esibhedlele eLondon, Great Ormond Street. Yinto eyaziwayo ukuba umfana kulenyanga-11 ubudala awukwazi nokuphefumla ngokwabo, aziva kwaye asikwazi ukubona, kwaye kananjalo enesifo sokuwa. Abazali ufuna ukuya naye eUnited States ukuba asungule unyango yokulinga, kodwa oogqirha umntwana ningavumelani. Bathi ukuba unyango bangabasindisi nokubasindisa mntwana, kwaye uya kuyolula ukubandezeleka kwakhe kuphela. Ezi ngcali, ngubani lonke eli xesha sele sibonile uCharlie, bathi: i enobuntu kakhulu, ukuba benze - kukuba ukucima oomatshini ubomi inkxaso.

Kwimeko Charlie ukuba kuqaliswe mpikiswano kwi ngamalungelo abazali ukuba ukukhetha unyango abantwana babo. Iinkundla British ezibe ecaleni esibhedlele, kangangokuba kwafuneka uCharlie ukuba olusuka izixhobo 30 ka June. Noko ke, abazali baye bacela oogqirha ukuba elinye le nkqubo, ukuze ube nexesha elingakumbi kuthi ndlela-ntle umntwana.

njani DNA luya

Entsefalomiopatichesky ayo DNA ngokuya syndrome, ubunzima yinkwenkwe, kubangelwa zofuzo ezilawula imfuza ezinceda ukugcina DNA ezifumaneka ngaphakathi mitochondria ( "izityalo amandla" neeselula), nto leyo bajongene ukuguqula izondlo zibe amandla, kwakunye iseti yalo DNA ezahlukeneyo.

Kwimeko uCharlie ziye zenzeke isakhi ekuthiwa RRM2B. Yena uthatha inxaxheba ekudalweni DNA ayo. I-guquko ebangela ukwehla kwimali DNA ayo, kwaye akavumeli umsebenzi ngokuqhelekileyo mitochondria.

Le meko kuchaphazela nokusebenza kwamalungu ezininzi, ingakumbi ingqondo, izihlunu kunye nezintso, leyo baneemfuno eliphezulu amandla. Ngenxa yale sifo kukhokelela buthathaka kwezihlunu, microcephaly (ukunciphisa ubungakanani intloko umntwana), iingxaki zezintso, ukuxhuzula kunye kuzwa. Ubuthakathaka izihlunu ababandakanyeka kwinkqubo ukuphefumla, inokuba ingxaki enkulu, nto leyo into eyenzeka Charlie. Ke inkwenkwe, awukwazi nokuphefumla ngokwabo.

ekulindeleke ukuba ngezoBomi kunye nokusasazwa ehlabathini

Esi sifo kunqabile kakhulu, ngaphambi kokuba uCharlie wayesaziwa iintsana-15 kuphela ehlabathini lonke abanelungelo uxilongo enye, yaye loo nkwenkwe.

Iimpawu zesi sifo ziqala ukubonakala kwangoko ngokwaneleyo. Kwimeko uCharlie, umzekelo, baqala ukuvela xa inkwenkwe kwiiveki nje ezimbalwa. Kwakhona, abantwana abaphethwe kule meko idla abakwazi ukusinda ebuntwaneni. Ngokutsho uphando ngo-2008, abantwana abasixhenxe kunye syndrome efanayo uCharlie, wafa ngaphambi kokuba bafikelele kubudala iinyanga 4.

Ngelishwa, le syndrome esinganyangekiyo. Into kuphela ukuba ungenza noogqirha - kukubonelela ngenkxaso sobonelelo okanye ukusetyenziswa kwee-fan ukuze bancedise ukuphefumla.

Ukuba Ndiyathemba ukuba unyango lovavanyo

Abazali Charlie ukuba ufuna ukuzama unyango lovavanyo unyana wakhe - unyango analogue ukuba umbandela DNA ayikwazi yenziwe zaso. Ukusebenza kwalo unyango sele kodwa ukuba kuqinisekiswe, nangona ngaphambili kuso kwizigulane abathwaxwa ongeyonxalenye ngaphantsi kakhulu zesi sifo, eyaziwa ngokuba TK2 wezakhi. Noko ke, uthomalaliso elingazange isetyenziswe kwizigulane kunye zofuzo RRM2B. Nditsho ugqirha kuqala ukulungele ukunceda i Garda kunye unyango yokulinga, yaye kamva kwanyanzeleka ukuba bayavuma ukuba le unyango akunakwenzeka ukuba kunyanga uCharlie, njengoko umntwana kwi zigaba ezithile zesi sifo.

Kutshanje, abameli Hospital wabantwana e-Italy baye ukuya kubo uCharlie ukunika ukhathalelo ayimfuneko, kodwa oogqirha Hospital London wala ukwenza njalo, bechaza yezizathu zomthetho. Boris Johnson, ngubani na uMphathiswa weMicimbi yaNgaphandle of Great Britain, naye wathi "esi sigqibo zingqinelana ngokoluvo ingcali zonyango, inkxaso ziinkundla", leyo xa kuthathelwa ingqalelo ephambili iimfuno zomntwana.