Live samafa: nkhani Charli Garda

Charlie Gard - mnyamata ku UK, umene chidwi mayiko ndi matenda ake anali osachiritsika amapha. Tsopano makolo ake akuyesetsa kupeza chithandizo komanso kuyembekeza kuti iwo akhoza kuthandiza mwana wawo kupambana osowa matenda - "zikutha m'mayiko DNA," amene nthawi zambiri chifukwa cha makanda mu miyezi yochepa yoyambirira ya moyo wawo. Koma chimene chimayambitsa matenda ndi n'chifukwa chiyani mwamsanga kuwononga thupi la makanda?

matenda mnyamata

Charlie anabadwa pa August 4 chaka chatha, koma popeza October, ali m'chipatala ku chipatala London, Great Ormond Street. Amadziwika kuti 11 miyezi mnyamata kupuma paokha, simungathe kumva ndipo sangathe kuwona, komanso matenda okomoka. Makolo amafuna kupita naye ku United States kukhazikitsa mankhwala komanso koma madokotala mwana zimatsutsana. Iwo amati mankhwala sizidzakupulumutsani mwanayo, kokha kutalikitsa mavuto ake. Akatswiri, amene nthawi yonseyi aona Charlie, kuti: kwambiri yachifundo, kuti angachite - ndi zimitsani makina moyo thandizo.

choncho Charlie adapitiriza mtsutso pa ufulu wa makolo kusankha mankhwala kwa ana awo. makhoti British anali kumbali ya chipatala, ndi chifukwa kuti Charlie ankayenera kuti sakukhudzidwa ndi zida 30 wa June. Komabe, makolo anafunsa madokotala kusiya kaye njirayi, kuti nthawi zambiri kunena tiwonana mwana.

Kodi DNA wakuta

Entsefalomiopatichesky kwa mayitirokondiriyoni DNA wakuta syndrome, anavutika ndi mwanayo, chifukwa cha masinthidwe imachititsa kuti awathandize kuti DNA anapeza m'kati mitochondria ndi (ma "mphamvu zomera"), amene ali ndi udindo kusintha zakudya mu mphamvu, komanso akonzedwa yakeyake DNA osiyana.

Pankhani ya Charlie kusintha zinachitika mu mbewu wotchedwa RRM2B. Iye akutenga nawo mbali pa kulengedwa kwa DNA kwa mayitirokondiriyoni. The kusintha zimayambitsa kuchepa kuchuluka kwa DNA kwa mayitirokondiriyoni, ndipo salola ntchito bwinobwino mitochondria.

chikhalidwe ichi zimakhudza ntchito ziwalo zambiri, makamaka ubongo, minofu ndi impso, amene zofuna mkulu mphamvu. Chifukwa cha matendawa kumabweretsa minofu kufooka, microcephaly (kuchepetsa kukula kwa mutu wa mwanayo), vuto la impso, khunyu ndi kumva imfa. Kufooka kwa minofu nawo mbali kupuma, akhoza kukhala ndi vuto lalikulu, n'zimene zinachitikira Charlie. Tsopano mnyamata kupuma paokha.

Moyo amayembekezeka ndi kugawa mu dziko

syndrome Izi kawirikawiri kwambiri: pamaso Charlie anadziwika kokha 15 ana padziko lonse amene ali ndi matenda chomwecho, mnyamata.

Zizindikiro za matenda ayamba kuonekera oyambirira zokwanira. Pankhani ya Charlie Mwachitsanzo, iwo anayamba kuoneka pamene mnyamatayo anali ochepa masabata. Komanso, ana amene amadwala matenda kawirikawiri sangathe kupulumuka wakhanda. Malinga ndi kafukufuku mu 2008, ana asanu ndi matenda mofanana Charlie, anafa ngakhale akamafika zaka miyezi 4.

Mwatsoka, syndrome izi osachiritsika. Chinthu chokha chimene angathe kupanga madokotala - ndi kupereka thandizo kwa okwanira kapena ntchito zimakupiza kuthandiza ndi kupuma.

Kodi ine ndikuyembekeza mankhwala ndi experimental

Makolo Charlie akufuna kuyesa mankhwala komanso mwana wake - mankhwala nucleoside kuti nkhani DNA kuti sangathe kukhala maselo ake. Mphamvu ya mankhwala, ngakhale kuti litatsimikizika, ngakhale kale icho chinali kugwiritsidwa ntchito kwa odwala amene akuvutika mitundu zochepa kwambiri chifukwa cha matenda, lotchedwa TK2 kusintha. Komabe, mankhwala a sizinachitikepo ntchito kwa odwala ndi masinthidwe RRM2B. Ngakhale kuti dokotala amene poyamba anali wokonzeka kuthandiza Garda mankhwala ndi experimental, ndipo patapita nthawi kuvomereza kuti mankhwala ichi ndi chodziwikiratu kuchiza Charlie, monga mwana ali mu magawo ina ya matenda.

Posachedwapa, oimira Hospital Ana a ku Italy akhala akuganizira kusuntha Charlie kwa iwo kupereka chisamaliro zofunika iye, koma London Hospital madokotala anakana kuchita potchula zifukwa malamulo. Boris Johnson, yemwe ndi nduna ya za okhonda a Great Britain, ananenanso kuti "chisankho mogwirizana ndi maganizo Katswiri zachipatala, amapereka mwa makhoti", chimene moganizira chachikulu zofuna za mwanayo.