{"id":51097,"date":"2024-08-05T14:54:52","date_gmt":"2024-08-05T12:54:52","guid":{"rendered":"https:\/\/www.invarena.cz\/?p=51097"},"modified":"2024-08-05T14:54:53","modified_gmt":"2024-08-05T12:54:53","slug":"pacienti-se-svalovou-atrofii-bori-zazite-myty","status":"publish","type":"post","link":"https:\/\/www.invarena.cz\/?p=51097","title":{"rendered":"Pacienti se svalovou atrofi\u00ed bo\u0159\u00ed za\u017eit\u00e9 m\u00fdty"},"content":{"rendered":"\n<p><em>Navzdory nemoci cht\u011bj\u00ed \u017e\u00edt, m\u00edt partnera \u010di d\u011bti<\/em><\/p>\n\n\n\n<p><strong>Praha, 5. 8. 2024 \u2013 Bez pomoci si neuva\u0159\u00ed ani \u010daj, nenajed\u00ed se, nenapij\u00ed, nevy\u010dist\u00ed zuby a&nbsp;p\u0159i sezn\u00e1men\u00ed v\u00e1m nepodaj\u00ed ruku, p\u0159esto\u017ee by cht\u011bli. Br\u00e1n\u00ed jim v&nbsp;tom spin\u00e1ln\u00ed svalov\u00e1 atrofie (SMA). Pacienty, kter\u00fdm postupn\u011b sl\u00e1bnou v\u0161echny svaly v&nbsp;t\u011ble, lid\u00e9 vn\u00edmaj\u00ed \u010dasto jen skrze jejich nemoc. I oni v\u0161ak maj\u00ed touhy jako zdrav\u00ed lid\u00e9. Cht\u011bj\u00ed se osamostatnit, \u017e\u00edt v&nbsp;partnersk\u00e9m vztahu nebo m\u00edt d\u011bti. T\u00e9mata, o kter\u00fdch se p\u0159\u00edli\u0161 nemluv\u00ed, otev\u00edraj\u00ed pacienti v&nbsp;s\u00e9rii rozhovor\u016f s n\u00e1zvem neSMAzateln\u00ed. Prvn\u00ed d\u00edly vy\u0161ly u&nbsp;p\u0159\u00edle\u017eitosti Mezin\u00e1rodn\u00edho m\u011bs\u00edce SMA, kter\u00fd p\u0159ipad\u00e1 na srpen.<\/strong><\/p>\n\n\n\n<p>\u201e<em>S\u00a0mamkou jsme v\u00a0jedn\u00e9 chv\u00edli do\u0161li do bodu, kdy jsme se cht\u011bli oba vymanit z pe\u010duj\u00edc\u00edho vztahu. Maminka se cht\u011bla vr\u00e1tit do pr\u00e1ce, j\u00e1 cht\u011bl studovat, \u017e\u00edt si po sv\u00e9m a m\u00edt v\u00a0\u017eivot\u011b v\u011bt\u0161\u00ed svobodu. Za\u010dal jsem tak bydlet s\u00a0p\u0159\u00edtelkyn\u00ed a vyu\u017e\u00edvat slu\u017eeb profesion\u00e1ln\u00ed osobn\u00ed asistence,\u201c<\/em> popisuje 28let\u00fd Adam prvn\u00ed kroky, kter\u00e9 p\u0159ibli\u017en\u011b p\u0159ed 3 lety vedly k\u00a0jeho osamostatn\u011bn\u00ed. Od narozen\u00ed p\u0159itom trp\u00ed spin\u00e1ln\u00ed svalovou atrofi\u00ed, pohybuje se pomoc\u00ed elektrick\u00e9ho voz\u00edku a pot\u0159ebuje 24hodinovou p\u00e9\u010di. Nemoc, kter\u00e1 je vrozen\u00e1 a m\u016f\u017ee za ni mutace genu SMN1, zp\u016fsobuje, \u017ee pacientovi nefunguj\u00ed spr\u00e1vn\u011b motorick\u00e9 neurony. Jejich \u00fakolem je pos\u00edlat sign\u00e1ly z\u00a0mozku do sval\u016f. A pr\u00e1v\u011b svaly tak postupn\u011b kv\u016fli ne\u010dinnosti sl\u00e1bnou a p\u0159est\u00e1vaj\u00ed pracovat.<\/p>\n\n\n\n<p> <em>\u201eJe to d\u011bdi\u010dn\u00e9 onemocn\u011bn\u00ed. P\u0159ena\u0161e\u010di choroby maj\u00ed jednu zdravou kopii genu SMN1, druh\u00e1 je po\u0161kozen\u00e1. Pokud se potkaj\u00ed dva p\u0159ena\u0161e\u010di, existuje 25%\u00a0pravd\u011bpodobnost, \u017ee se u jejich d\u00edt\u011bte rozvine SMA, a 50% pravd\u011bpodobnost, \u017ee bude d\u00edt\u011b tak\u00e9 p\u0159ena\u0161e\u010dem,\u201c<\/em> vysv\u011btluje neurolo\u017eka MUDr. Olesja Parmov\u00e1, DiS., Ph.D., z\u00a0Neuromuskul\u00e1rn\u00edho centra Fakultn\u00ed nemocnice Brno. V\u00a0\u010cesk\u00e9 republice \u017eije s\u00a0touto diagn\u00f3zou 397 lid\u00ed.<\/p>\n\n\n\n<p>P\u0159ena\u0161e\u010dem t\u00e9to choroby je p\u0159ibli\u017en\u011b ka\u017ed\u00fd pades\u00e1t\u00fd \u010dlov\u011bk v&nbsp;populaci. Je\u0161t\u011b p\u0159ed \u0161esti lety platilo, \u017ee SMA je nevyl\u00e9\u010diteln\u00e9 onemocn\u011bn\u00ed, kter\u00e9 z\u00e1sadn\u011b zkracuje \u017eivot pacient\u016f. Dnes maj\u00ed l\u00e9ka\u0159i ve sv\u00e9m medic\u00ednsk\u00e9m arzen\u00e1lu hned n\u011bkolik p\u0159\u00edpravk\u016f schopn\u00fdch ovlivnit p\u0159irozen\u00fd pr\u016fb\u011bh onemocn\u011bn\u00ed. <em>\u201ePokud zah\u00e1j\u00edme l\u00e9\u010dbu je\u0161t\u011b ve f\u00e1zi, kdy se nemoc neprojevila \u017e\u00e1dn\u00fdmi p\u0159\u00edznaky, m\u00e1me nad\u011bji, \u017ee se posti\u017een\u00ed prakticky nerozvine nebo zm\u00edrn\u00edme jeho rozvoj. Pacient\u016fm, u kter\u00fdch u\u017e do\u0161lo k&nbsp;nevratn\u00e9mu po\u0161kozen\u00ed motoneuronu, dok\u00e1\u017ee l\u00e9\u010dba zastavit nebo zpomalit dal\u0161\u00ed postup nemoci,\u201c <\/em>dopl\u0148uje MUDr. Parmov\u00e1. Kv\u016fli v\u010dasn\u00e9mu zah\u00e1jen\u00ed l\u00e9\u010dby je proto od leto\u0161n\u00edho roku testov\u00e1n\u00ed SMA sou\u010d\u00e1st\u00ed novorozeneck\u00e9ho screeningu. Nemoc lze odhalit z&nbsp;mal\u00e9ho vzorku krve, kter\u00fd se odeb\u00edr\u00e1 novorozenc\u016fm 2. nebo 3. den po porodu.<\/p>\n\n\n\n<p> Nemoc napad\u00e1 pouze perifern\u00ed nervov\u00fd syst\u00e9m, co\u017e znamen\u00e1, \u017ee intelekt pacienta nijak posti\u017een\u00fd nen\u00ed. P\u0159esto se pacienti \u010dasto setk\u00e1vaj\u00ed s\u00a0neporozum\u011bn\u00edm. <em>\u201eSt\u00e1v\u00e1 se mi, \u017ee na \u00fa\u0159adech, nebo dokonce i v\u00a0nemocnic\u00edch mluv\u00ed lid\u00e9 na moji asistentku, m\u00edsto aby se obr\u00e1tili p\u0159\u00edmo na m\u011b,\u201c <\/em>\u0159\u00edk\u00e1 Hynek Latta, kter\u00fd v\u00a0nov\u00e9m podcastov\u00e9m seri\u00e1lu neSMAzateln\u00ed vede rozhovory s\u00a0pacienty se SMA a jejich bl\u00edzk\u00fdmi.<\/p>\n\n\n\n<p> <em>\u201eSeri\u00e1l proto vznikl jako podpora pacient\u016f s\u00a0diagn\u00f3zou SMA a lid\u00ed kolem nich. Pom\u016f\u017ee ale tak\u00e9 odborn\u00edk\u016fm, proto\u017ee d\u00e1v\u00e1 nahl\u00e9dnout do \u017eivota pacienta v\u00a0osobn\u00ed rovin\u011b a bo\u0159\u00ed n\u011bkter\u00e9 za\u017eit\u00e9 m\u00fdty,\u201c<\/em> dod\u00e1v\u00e1 pan Latta. Ve zcela otev\u0159en\u00fdch rozhovorech mluv\u00ed se sv\u00fdmi hosty o tom, jak vypad\u00e1 sou\u017eit\u00ed a v\u00fdchova d\u011bt\u00ed s\u00a0nemocn\u00fdm partnerem a jak v\u00a0takov\u00e9m vztahu nevyho\u0159et. Prob\u00edr\u00e1, jak\u00e9 to je vyr\u016fstat vedle sourozence se svalovou atrofi\u00ed \u010di jak se da\u0159\u00ed lidem s\u00a0takto t\u011b\u017ek\u00fdm posti\u017een\u00edm budovat \u00fasp\u011b\u0161nou kari\u00e9ru. \u0158e\u0161\u00ed tak\u00e9 to, co pro\u017e\u00edvaj\u00ed zdrav\u00ed rodi\u010de, kdy\u017e se jim narod\u00ed d\u00edt\u011b s\u00a0SMA. Prvn\u00ed rozhovory je mo\u017en\u00e9 sledovat na webu <a href=\"http:\/\/www.nesmazatelni.cz\/\"><u>www.nesmazatelni.cz<\/u><\/a>. Projekt vznikl s\u00a0podporou spole\u010dnosti Roche.<\/p>\n","protected":false},"excerpt":{"rendered":"<div class=\"mh-excerpt\"><p>Navzdory nemoci cht\u011bj\u00ed \u017e\u00edt, m\u00edt partnera \u010di d\u011bti Praha, 5. 8. 2024 \u2013 Bez pomoci si neuva\u0159\u00ed ani \u010daj, nenajed\u00ed se, nenapij\u00ed, nevy\u010dist\u00ed zuby a&nbsp;p\u0159i <a class=\"mh-excerpt-more\" href=\"https:\/\/www.invarena.cz\/?p=51097\" title=\"Pacienti se svalovou atrofi\u00ed bo\u0159\u00ed za\u017eit\u00e9 m\u00fdty\">[&#8230;]<\/a><\/p>\n<\/div>","protected":false},"author":1,"featured_media":2113,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[11],"tags":[],"class_list":["post-51097","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-zdravi"],"_links":{"self":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts\/51097","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=51097"}],"version-history":[{"count":0,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts\/51097\/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=51097"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=51097"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=51097"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}