{"id":18693,"date":"2014-12-02T11:43:18","date_gmt":"2014-12-02T10:43:18","guid":{"rendered":"http:\/\/www.invarena.cz\/?p=18693"},"modified":"2014-12-02T11:43:18","modified_gmt":"2014-12-02T10:43:18","slug":"duchennova-choroba-zmenila-britsko-ceskemu-paru-zivot","status":"publish","type":"post","link":"https:\/\/www.invarena.cz\/?p=18693","title":{"rendered":"Duchennova choroba zm\u011bnila britsko-\u010desk\u00e9mu p\u00e1ru \u017eivot"},"content":{"rendered":"<p><strong>Kv\u016fli ochabov\u00e1n\u00ed sval\u016f kon\u010d\u00ed mal\u00ed pacienti na invalidn\u00edm voz\u00edku a zpravidla se nedo\u017eij\u00ed dosp\u011blosti. V jedn\u00e9 britsko-\u010desk\u00e9 rodin\u011b l\u00e9ka\u0159i smrtelnou diagn\u00f3zu potvrdili u obou syn\u016f.<\/strong><!--more--><\/p>\n<p>Des\u00edtky milion\u016f liber se ro\u010dn\u011b vyberou v Brit\u00e1nii v r\u016fzn\u00fdch charitativn\u00edch akc\u00edch na boj proti z\u00e1ke\u0159n\u00fdm chorob\u00e1m. Zat\u00edmco t\u0159eba u rakoviny v\u011bdci v posledn\u00edch letech zaznamenali \u0159adu \u00fasp\u011bch\u016f, u Duchennovy svalov\u00e9 dystrofie tah\u00e1 lidstvo po\u0159\u00e1d za krat\u0161\u00ed konec provazu.<\/p>\n<p>\u010ce\u0161ka Kl\u00e1ra vychov\u00e1v\u00e1 s man\u017eelem Nickem v Epsomu u Lond\u00fdna t\u0159\u00edlet\u00e9ho Theodora a ro\u010dn\u00edho Oskara. U obou chlape\u010dk\u016f letos testy potvrdily Duchennovu chorobu. Man\u017eel\u00e9 jsou obdivuhodn\u011b pozitivn\u00ed i te\u010f, kdy se st\u011bhuj\u00ed do bezbari\u00e9rov\u00e9ho bydlen\u00ed.<\/p>\n<p>&#8222;Vzhledem k tomu, \u017ee v\u011bt\u0161ina d\u011bt\u00ed s Duchennovou chorobu se nedo\u017e\u00edv\u00e1 dvaceti let, my chceme t\u011bch dvacet let \u017e\u00edt v m\u00edst\u011b, kde na\u0161i kluci budou m\u00edt svobodu pohybu. Sehnali jsme bungalov, kde m\u016f\u017eeme p\u0159istav\u011bt a ud\u011blat bezbari\u00e9rov\u00fd d\u016fm. To znamen\u00e1, \u017ee se tady nemus\u00ed stav\u011bt n\u011bjak\u00e9 v\u00fdtahy,&#8220; \u0159\u00edk\u00e1 pan\u00ed Kl\u00e1ra.<\/p>\n<p>Dlouholetou hlavn\u00ed tv\u00e1\u0159\u00ed britsk\u00e9 kampan\u011b pro boj se svalovou dystrofi\u00ed byl ned\u00e1vno zesnul\u00fd herec a re\u017eis\u00e9r, lord Richard Attenborough. I Kl\u00e1ra s Nickem se sna\u017e\u00ed svou tro\u0161kou p\u0159isp\u011bt ke zv\u00fd\u0161en\u00ed pov\u011bdom\u00ed o z\u00e1ke\u0159n\u00e9 nemoci a pom\u00e1hat charit\u011b. Ta jejich se jmenuje Harrison\u016fv fond.<\/p>\n<p>&#8222;\u010clov\u011bk, kter\u00fd stoj\u00ed v \u010dele fondu, se jmenuje Alex Smith. Rozhodl se, \u017ee absolvuje triatlonov\u00e9ho Ironmana a ponese p\u0159itom sv\u00e9ho syna, kter\u00fd m\u00e1 Duchennovu chorobu. Ten p\u0159itom v\u00e1\u017e\u00ed 35 kilo. Pokus\u00ed se o to v Kodani a chce p\u0159ekonat sv\u011btov\u00fd rekord, proto\u017ee v Americe u\u017e jeden tat\u00ednek n\u011bco takov\u00e9ho ud\u011blal. Budeme o Alexov\u011b pokusu to\u010dit dokument,&#8220; popisuje Kl\u00e1\u0159in man\u017eel, filmov\u00fd producent Nick. On s\u00e1m m\u00e1 impozantn\u00ed p\u0159edsevzet\u00ed b\u011b\u017eet ve prosp\u011bch Harrisonova fondu ka\u017ed\u00e9 dva m\u011bs\u00edce marat\u00f3n.<\/p>\n<p>&#8222;U Duchennovy choroby je dobr\u00e9, \u017ee nez\u00e1visl\u00e9 charity v Brit\u00e1nii vytvo\u0159ily sdru\u017een\u00ed Duchenne Forum. \u00dazce spolupracuj\u00ed, tak\u017ee kdy\u017e se objev\u00ed nad\u011bjn\u00fd v\u00fdzkum nebo slibn\u00fd p\u0159\u00edpravek, shrom\u00e1\u017ed\u00ed sv\u00e9 prost\u0159edky a kolektivn\u011b takov\u00fd projekt podpo\u0159\u00ed. N\u011bco podobn\u00e9ho se d\u011bje taky ve Spojen\u00fdch st\u00e1tech,&#8220; vysv\u011btluje s nad\u011bj\u00ed v hlase Nick, kter\u00fd je v rodin\u011b t\u00edm, kdo sleduje nejnov\u011bj\u0161\u00ed v\u011bdeck\u00e9 trendy. Rad\u011bji ale pr\u00fd z\u016fst\u00e1v\u00e1 skeptick\u00fd.<\/p>\n<p>Duchennovou svalovou dystrofi\u00ed na sv\u011bt\u011b trp\u00ed asi 300 tis\u00edc lid\u00ed. Jde o d\u011bdi\u010dnou genetickou chorobu, kdy skoro v\u00fdlu\u010dn\u011b u chlapc\u016f t\u011blo nevytv\u00e1\u0159\u00ed svalovou b\u00edlkovinu zvanou dystrofin. Na nemoc zat\u00edm neexistuje l\u00e9k a pacienti um\u00edraj\u00ed v\u011bt\u0161inou je\u0161t\u011b p\u0159ed dosa\u017een\u00edm dosp\u011blosti.<\/p>\n<p>&#8222;P\u0159ed deseti lety byl v Brit\u00e1nii pr\u016fm\u011brn\u00fd v\u011bk pacient\u016f s Duchennovou chorobou, kte\u0159\u00ed museli za\u010d\u00edt pou\u017e\u00edvat invalidn\u00ed voz\u00edk, dev\u011bt a p\u016fl roku. Loni u\u017e to bylo 13 let. To samoz\u0159ejm\u011b nen\u00ed n\u011bco, s \u010d\u00edm se chceme a hodl\u00e1me spokojit. Ale m\u00e1me tu \u010d\u00edm d\u00e1l t\u00edm v\u00edc d\u011bt\u00ed, kter\u00e9 je\u0161t\u011b v p\u0159echodu do dosp\u011blosti dok\u00e1\u017eou samy chodit,&#8220; popisuje jeden z nesporn\u00fdch \u00fasp\u011bch\u016f boje s d\u016fsledky a nikoli p\u0159\u00ed\u010dinami z\u00e1ke\u0159n\u00e9 choroby profesor Francesco Muntoni, jedna z nejv\u011bt\u0161\u00edch sv\u011btov\u00fdch kapacit na svalov\u00e9 dystrofie z lond\u00fdnsk\u00e9 Great Ormond Street Hospital.<\/p>\n<p>&#8222;Poprv\u00e9 to vypad\u00e1, \u017ee n\u011bkter\u00e9 experiment\u00e1ln\u00ed l\u00e9ky maj\u00ed pozitivn\u00ed \u00fa\u010dinek na prim\u00e1rn\u00ed probl\u00e9m u pacient\u016f s touto nemoc\u00ed, a sice neschopnost t\u011bla produkovat nezbytn\u00fd svalov\u00fd protein s n\u00e1zvem dystrofin. V\u00fdsledky test\u016f jsou velmi zaj\u00edmav\u00e9 a z\u0159ejm\u011b p\u016fjde o prvn\u00ed l\u00e9ky, kter\u00e9 v kombinaci nap\u0159\u00edklad s kortikosteroridy skute\u010dn\u011b zm\u011bn\u00ed pr\u016fb\u011bh Duchennovy choroby,&#8220; dod\u00e1v\u00e1 profesor Muntoni.<\/p>\n<p>T\u0159\u00edlet\u00fd Theodor u\u017e za\u010d\u00edn\u00e1 kl\u00e1st ot\u00e1zky, pro\u010d nem\u00e1 tak \u0161ikovn\u00e9 a rychl\u00e9 no\u017ei\u010dky jako jeho kamar\u00e1di. Kl\u00e1ra s Nickem cht\u011bj\u00ed b\u00fdt ke sv\u00fdm syn\u016fm otev\u0159en\u00ed. S\u00edlu nejen pro takov\u00e9 okam\u017eiky \u010derpaj\u00ed i ze setk\u00e1n\u00ed s dal\u0161\u00edmi rodinami, kter\u00fdm jedna mutace v genu pro svalovou b\u00edlkovinu nav\u017edy zm\u011bnila \u017eivot.<\/p>\n<p>rozhlas.cz<\/p>\n<p>foto: Stuart Wickison<\/p>\n","protected":false},"excerpt":{"rendered":"<div class=\"mh-excerpt\"><p>Kv\u016fli ochabov\u00e1n\u00ed sval\u016f kon\u010d\u00ed mal\u00ed pacienti na invalidn\u00edm voz\u00edku a zpravidla se nedo\u017eij\u00ed dosp\u011blosti. V jedn\u00e9 britsko-\u010desk\u00e9 rodin\u011b l\u00e9ka\u0159i smrtelnou diagn\u00f3zu potvrdili u obou syn\u016f.<\/p>\n<\/div>","protected":false},"author":1,"featured_media":2113,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[7,11],"tags":[],"class_list":["post-18693","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-spolecnost","category-zdravi"],"_links":{"self":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts\/18693","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=18693"}],"version-history":[{"count":0,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts\/18693\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/media\/2113"}],"wp:attachment":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=18693"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=18693"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=18693"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}