Pro\u010d mus\u00ed b\u00fdt cena za \u017eivot n\u011bkter\u00fdch d\u011bt\u00ed tak vysok\u00e1? Na tuto ot\u00e1zku se jist\u011b ptaj\u00ed (nejen) rodi\u010de \u010dty\u0159let\u00e9ho Williama Johnatana Moora. Chlapec se narodil \u010desk\u00e9 matce Veronice Palou\u010dkov\u00e9, kter\u00e1 \u017eije se sv\u00fdm partnerem v Irsku. Williamovi byla bohu\u017eel diagnostikov\u00e1na svalov\u00e1 dystrofie Duchenne. Jedn\u00e1 se o genovou poruchu, je\u017e vede nejprve ke svalov\u00e9 slabosti a pozd\u011bji i k \u00famrt\u00ed d\u00edt\u011bte. Jedin\u00e1 nad\u011bjn\u00e1 l\u00e9\u010dba je dostupn\u00e1 v USA. Stoj\u00ed v\u0161ak des\u00edtky milion\u016f korun; podobn\u011b jako u Mart\u00ednka Zatloukala, jemu\u017e \u010ce\u0161i p\u0159isp\u011bli na stomilionovou l\u00e9\u010dbu.<\/p>\n\n\n\n
\u017divot rodiny mal\u00e9ho Williama Johnatana Moora se kompletn\u011b zastavil dne 4. \u0159\u00edjna roku 2024. Bylo to jen p\u00e1r t\u00fddn\u016f pot\u00e9, co chlapec oslavil sv\u00e9 \u010dtvrt\u00e9 narozeniny. Babi\u010dka chlapce \u0160\u00e1rka Palou\u010dkov\u00e1 podle sv\u00fdch slov u\u017e dlouho uporoz\u0148ovala na to, \u017ee William m\u00e1 \u0161patnou rovnov\u00e1hu a neust\u00e1le zakop\u00e1v\u00e1. Nikdo v\u0161ak jej\u00edmu \u00fasudku zprvu nep\u0159isuzoval \u017e\u00e1dnou v\u00e1hu.<\/p>\n\n\n\n
Na \u010dty\u0159let\u00e9 prohl\u00eddce v\u0161ak pediatr odhalil, \u017ee chlapec trp\u00ed fat\u00e1ln\u00edm onemocn\u011bn\u00edm s n\u00e1zvem Duchenne muscular dystrophy (DMD) neboli svalovou dystrofii Duchenne (viz n\u00ed\u017ee). V Evropsk\u00e9 unii neexistuje l\u00e9ka\u0159, kter\u00fd by mu dok\u00e1zal pomoci. V americk\u00e9m Bostonu v\u0161ak ano. Williama je dokonce ochoten za\u010d\u00edt okam\u017eit\u011b l\u00e9\u010dit a pr\u016fb\u011bh jeho onemocn\u011bn\u00ed pln\u011b zastavit jedinou d\u00e1vkou l\u00e9ku. M\u00e1 to ale h\u00e1\u010dek. L\u00e9\u010dba stoj\u00ed 80 milion\u016f korun, kter\u00e9 rodina nem\u00e1.<\/p>\n\n\n\n
Rodi\u010de se zhroutili, babi\u010dka bojuje d\u00e1l<\/p>\n\n\n\n
\u201ePomozte n\u00e1m zachr\u00e1nit \u017eivot m\u00e9ho vnou\u010dka Williama.\u201c Tak zn\u00ed prvn\u00ed zoufal\u00e1 slova babi\u010dky \u010dty\u0159let\u00e9ho chlapce s \u010desk\u00fdmi ko\u0159eny ve sb\u00edrce, kterou pro n\u011bj zalo\u017eila na dobro\u010dinn\u00e9 platform\u011b Donio.<\/p>\n\n\n\n
William se p\u0159itom narodil jako na prvn\u00ed pohled zdrav\u00e9 miminko. Jak ale rostl, za\u010dala si jeho babi\u010dka v\u0161\u00edmat toho, \u017ee chlapec neb\u011bh\u00e1 tolik, co ostatn\u00ed d\u011bti, \u017ee nikdy nikam nevylezl, \u017ee neust\u00e1le zakop\u00e1v\u00e1 a pad\u00e1 bez zjevn\u00e9 p\u0159\u00ed\u010diny. Probl\u00e9my mu d\u011blala i sebemen\u0161\u00ed p\u0159ek\u00e1\u017eka.<\/p>\n\n\n\n
\u201eTak\u00e9 chodil \u010dasto po \u0161pi\u010dk\u00e1ch, a to u\u017e od prvn\u00edch kr\u016f\u010dk\u016f. Dokto\u0159i si mysleli, \u017ee to je d\u016fvod jeho \u010dast\u00fdch p\u00e1d\u016f. Tak\u00e9 n\u00e1m bylo nazna\u010deno, \u017ee m\u016f\u017ee j\u00edt i o zn\u00e1mku autismu. Proto v\u0161ichni \u010dekali,\u201c popisuje babi\u010dka tehdej\u0161\u00ed situaci.<\/p>\n\n\n\n
V cel\u00e9 Evrop\u011b neexistuje l\u00e9k<\/p>\n\n\n\n
Jak u\u017e bylo v\u00fd\u0161e uvedeno, prav\u00fd d\u016fvod Williamov\u00fdch pot\u00ed\u017e\u00ed byl zji\u0161t\u011bn a\u017e na \u010dty\u0159let\u00e9 prohl\u00eddce. Tehdy l\u00e9ka\u0159 d\u00edky krevn\u00edm test\u016fm odhalil vrozenou genetickou vadu DMD genu v X chromosomu neboli svalovou dystrofii Duchenne.<\/p>\n\n\n\n
\u201eBohu\u017eel je to stav, kter\u00fd Williamovi bez l\u00e9\u010dby v\u00fdrazn\u011b zkr\u00e1t\u00ed \u017eivot. I kdy\u017e p\u0159esn\u011b nev\u00edme, jak bude nemoc postupovat, v\u011bt\u0161ina chlapc\u016f se do\u017e\u00edv\u00e1 pouh\u00fdch dvaceti a\u017e p\u011btadvaceti let. Bylo n\u00e1m nav\u00edc \u0159e\u010deno, \u017ee je to agresivn\u00ed forma svalov\u00e9 dystrofie, kterou zat\u00edm v Evrop\u011b neum\u00ed l\u00e9\u010dit,\u201c pokra\u010duje \u0160\u00e1rka Palou\u010dkov\u00e1.<\/p>\n\n\n\n
V cel\u00e9 Evropsk\u00e9 unii tak neexistuje st\u00e1t, kter\u00fd by tuto genovou poruchu um\u011bl nejen \u00fapln\u011b vyl\u00e9\u010dit, ale ani pozastavit jej\u00ed fat\u00e1ln\u00ed pr\u016fb\u011bh.<\/p>\n\n\n\n
Jedin\u00e1 mo\u017enost pro mal\u00e9ho Will\u00edka<\/p>\n\n\n\n
Rodi\u010de \u010dty\u0159let\u00e9ho chlapce i jeho babi\u010dka str\u00e1vili mnoho bezesn\u00fdch a proplakan\u00fdch noc\u00ed. Nevzd\u00e1vali se v\u0161ak nad\u011bje, \u017ee n\u011bkde najdou jak\u00fdkoliv zp\u016fsob, kter\u00fd by chlapci pomohl. A opravdu dostupnou l\u00e9\u010dbu na\u0161li. Narazili v\u0161ak na z\u00e1sadn\u00ed probl\u00e9m. Klinika si toti\u017e za tuto l\u00e9\u010dbu \u00fa\u010dtuje des\u00edtky milion\u016f korun.<\/p>\n\n\n\n
\u201eZat\u00edm jedin\u00e1 mo\u017enost, jak zachr\u00e1nit Williama, je genov\u00e1 terapie Elevidysem v Bostonsk\u00e9 d\u011btsk\u00e9 nemocnici v USA,\u201c pokra\u010duje s nad\u011bj\u00ed Williamova babi\u010dka, kter\u00e1 \u017eije ji\u017e 20 let v Irsku.<\/p>\n\n\n\n
Podle Bostonsk\u00e9 d\u011btsk\u00e9 nemocnice, ve kter\u00e9 m\u00e1 b\u00fdt William hospitalizov\u00e1n, je Elevidys jednor\u00e1zovou genovou terapi\u00ed pro l\u00e9\u010dbu Duchennovy svalov\u00e9 dystrofie. \u201eL\u00e9k je navr\u017een tak, aby posiloval svaly dod\u00e1n\u00edm zkr\u00e1cen\u00e9 verze dystrofinov\u00e9ho genu, zn\u00e1m\u00e9ho jako mikro-dystrofin. Aplikac\u00ed l\u00e9ku se nahrazuje chyb\u011bj\u00edc\u00ed \u010di po\u0161kozen\u00fd gen, kter\u00fd je p\u0159\u00ed\u010dinou onemocn\u011bn\u00ed. Jakmile se dostane do krevn\u00edho \u0159e\u010di\u0161t\u011b, dostane se do svalov\u00fdch bun\u011bk, kde zapo\u010dne jeho produkce,\u201c vysv\u011btluje nemocnice.<\/p>\n\n\n\n
\u0160\u00e1rka Palou\u010dkov\u00e1 vnou\u010dka okam\u017eit\u011b zaregistrovala. Poslala ve\u0161ker\u00e9 n\u00e1lezy, kter\u00e9 m\u011bli s rodinou k dispozici, aby zjistili, zda je v\u016fbec vhodn\u00fdm kandid\u00e1tem.<\/p>\n\n\n\n
\u201eZa p\u00e1r hodin p\u0159i\u0161lo, \u017ee William genovou terapii podstoupit m\u016f\u017ee. Cena je v\u0161ak astronomick\u00e1. Jeliko\u017e je to ale jedin\u00e1 \u0161ance, jak m\u00e9mu vnou\u010dkovi zachr\u00e1nit \u017eivot, rozhodla jsem se ud\u011blat v\u0161e, co je v m\u00fdch sil\u00e1ch, abychom tyto ohromn\u00e9 pen\u00edze pro Williama vybrali,\u201c nep\u0159est\u00e1v\u00e1 Williamova babi\u010dka v\u011b\u0159it, \u017ee jej\u00ed vnou\u010dek bude moci podstoupit l\u00e9\u010dbu, kter\u00e1 dok\u00e1\u017ee pr\u016fb\u011bh jeho nemoci zastavit.<\/p>\n\n\n\n
V tuto chv\u00edli se j\u00ed v\u0161ak pot\u0159ebn\u00e9 pen\u00edze vybrat neda\u0159\u00ed. A to ani p\u0159esto, \u017ee rodina ji\u017e zalarmovala irsk\u00e1 m\u00e9dia a objevila se s chlapcem v m\u00edstn\u00edch novin\u00e1ch i r\u00e1diu. \u0160\u00e1rka Palou\u010dkov\u00e1 v\u0161ak douf\u00e1, \u017ee \u010ce\u0161i jsou jin\u00ed a mal\u00e9ho nevinn\u00e9ho chlapce s \u010desk\u00fdmi ko\u0159eny se jim z\u017eel\u00ed.<\/p>\n\n\n\n
Pokud by se poda\u0159ilo \u010d\u00e1stku vybrat, pen\u00edze budou pou\u017eity na zm\u00edn\u011bnou genovou terapii v Bostonsk\u00e9 d\u011btsk\u00e9 nemocnici v USA, kter\u00e1 spo\u010d\u00edv\u00e1 v jedin\u00e9 aplikaci pot\u0159ebn\u00e9ho l\u00e9ku. Samotn\u00fd z\u00e1krok trv\u00e1 dle v\u00fdpov\u011bdi babi\u010dky hodinu a p\u016fl. N\u00e1sledn\u011b v\u0161ak mus\u00ed b\u00fdt chlapec dva m\u011bs\u00edce na klinice na pozorov\u00e1n\u00ed.<\/p>\n\n\n\n
Celkov\u00e1 \u010d\u00e1stka, kter\u00e1 pokryje aplikaci l\u00e9ku i pobyt v nemocnici, byla stanovena na 80 milion\u016f korun.<\/p>\n\n\n\n
Pokud se cel\u00e1 \u010d\u00e1ska nevybere, rodina pou\u017eije vybran\u00e9 pen\u00edze na jak\u00e9koliv n\u00e1klady souvisej\u00edc\u00ed se zdravotn\u00ed p\u00e9\u010d\u00ed o chlapce. V p\u0159\u00edpad\u011b jeho \u00famrt\u00ed p\u0159evede zbyl\u00e9 pen\u00edze na jin\u00e9ho pacienta, kter\u00fd se l\u00e9\u010d\u00ed (nebo v budoucnu bude l\u00e9\u010dit) se stejn\u00fdm onemocn\u011bn\u00edm.<\/p>\n\n\n\n
Do sb\u00edrky pro Williama lze p\u0159isp\u011bt jakoukoliv \u010d\u00e1stkou ZDE: https:\/\/donio.cz\/duchenne-muscular-dystrophy-treatment-v-zahranici<\/a>. \u017divot mal\u00e9ho chlapce m\u016f\u017ee p\u0159\u00edmo ovlivnit ka\u017ed\u00fd z n\u00e1s.<\/p>\n\n\n\n Duchennova svalov\u00e1 dystrofie<\/p>\n\n\n\n Jedn\u00e1 se o vrozenou genetickou vadu, je\u017e postihuje pouze chlapce. Jak vysv\u011btluje Asociace muskul\u00e1rn\u00edch dystrofik\u016f v \u010cR, nemoc je charakteristick\u00e1 ochabov\u00e1n\u00edm a ztr\u00e1tou aktivn\u00ed svalov\u00e9 hmoty.<\/p>\n\n\n\n \u201eDuchennova svalov\u00e1 dystrofie se projevuje b\u011bhem prvn\u00edch let \u017eivota nemocn\u00e9ho. Zr\u00e1dn\u00e1 je p\u0159edev\u0161\u00edm t\u00edm, \u017ee zpo\u010d\u00e1tku je d\u00edt\u011b zdrav\u00e9 a p\u0159\u00edznaky nastupuj\u00ed velmi pl\u00ed\u017eiv\u011b. Jedn\u00e1 se o nej\u010dast\u011bj\u0161\u00ed onemocn\u011bn\u00ed z kategori\u00ed dystrofi\u00ed. Uv\u00e1d\u00ed se, \u017ee na 3500 narozen\u00fdch chlapc\u016f p\u0159ipad\u00e1 jeden nemocn\u00fd,\u201c popisuje onemocn\u011bn\u00ed asociace.<\/p>\n\n\n\n P\u0159\u00ed\u010dinou onemocn\u011bn\u00ed je mutace genu, d\u00edky kter\u00e9mu za norm\u00e1ln\u00edch okolnost\u00ed vznik\u00e1 dystrofin. Ten je nezbytn\u00fd pro spr\u00e1vn\u00e9 fungov\u00e1n\u00ed svalov\u00fdch bun\u011bk. V d\u016fsledku ochabov\u00e1n\u00ed svalstva kon\u010d\u00ed chlapci ve \u0161koln\u00edch letech na invalidn\u00edm voz\u00edku. Pozd\u011bji um\u00edraj\u00ed z d\u016fvodu selh\u00e1n\u00ed srdce.<\/p>\n\n\n\n Kate\u0159ina N\u011bmcov\u00e1<\/p>\n\n\n\n Den\u00edk.cz<\/p>\n\n\n\n https:\/\/www.denik.cz<\/a><\/p>\n","protected":false},"excerpt":{"rendered":" Pro\u010d mus\u00ed b\u00fdt cena za \u017eivot n\u011bkter\u00fdch d\u011bt\u00ed tak vysok\u00e1? Na tuto ot\u00e1zku se jist\u011b ptaj\u00ed (nejen) rodi\u010de \u010dty\u0159let\u00e9ho Williama Johnatana Moora. Chlapec se narodil […]<\/a><\/p>\n<\/div>","protected":false},"author":1,"featured_media":13634,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[9],"tags":[],"class_list":["post-55316","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-zpravy"],"_links":{"self":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts\/55316","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=55316"}],"version-history":[{"count":0,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts\/55316\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/media\/13634"}],"wp:attachment":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=55316"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=55316"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=55316"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}