T\u0159\u00edlet\u00e1 Viktorka Matou\u0161kov\u00e1 z T\u0159eb\u00ed\u010de trp\u00ed nesm\u00edrn\u011b vz\u00e1cnou genetickou vadou. Jej\u00ed rodi\u010de s n\u00ed pravideln\u011b cvi\u010d\u00ed, jezd\u00ed na rehabilitace do Brna a del\u0161\u00ed pobyty v l\u00e1zn\u00edch \u2013 ov\u0161em s t\u00edm, jak jejich dcera roste, pot\u0159ebuj\u00ed nov\u00e9 velk\u00e9 auto. Prob\u00edh\u00e1 proto sb\u00edrka, d\u00edky n\u00ed\u017e by bylo mo\u017en\u00e9 nov\u00fd v\u016fz po\u0159\u00eddit.<\/p>\n\n\n\n
Kr\u00e1sn\u00e1 hol\u010di\u010dka si rozvern\u011b to\u010d\u00ed s hra\u010dkou plnou r\u016fznobarevn\u00fdch kuli\u010dek. Z hra\u010dky se oz\u00fdv\u00e1 vesel\u00e1 p\u00edsni\u010dka a hol\u010di\u010dka se sm\u011bje. Jen\u017ee\u2026 \u201eL\u00e9ka\u0159i se na n\u00e1s chodili d\u00edvat a nikdo nev\u011bd\u011bl, co s t\u00edm. \u0158\u00edkali, \u017ee jsme zaj\u00edmav\u00fd p\u0159\u00edpad,\u201c vzpom\u00edn\u00e1 Lenka Matou\u0161kov\u00e1, maminka mal\u00e9 Viktorky.<\/p>\n\n\n\n
Nejlep\u0161\u00ed odborn\u00edci v zemi nedok\u00e1zali pojmenovat Viktor\u010dinu nemoc. A vlastn\u011b se tomu ani nelze divit. Ta choroba je toti\u017e velmi vz\u00e1cn\u00e1. Dokonce tak vz\u00e1cn\u00e1, \u017ee nem\u00e1 ani \u017e\u00e1dn\u00fd ofici\u00e1ln\u00ed n\u00e1zev. Ozna\u010duje se jen podivn\u00fdm shlukem p\u00edsmen a \u010d\u00edslic\u00ed \u2013 CACNA1A.<\/p>\n\n\n\n
Nenechali se odb\u00fdt<\/p>\n\n\n\n
Jedn\u00e1 se o genetickou poruchu, kter\u00e1 zasahuje devaten\u00e1ct\u00fd chromozom. Ono CACNA1A je gen, kter\u00fd hraje z\u00e1sadn\u00ed roli p\u0159i komunikaci mezi neurony v mozku. Na cel\u00e9m sv\u011bt\u011b bylo dosud zmapov\u00e1no jen asi dva tis\u00edce takov\u00fdch p\u0159\u00edpad\u016f. \u201eProto\u017ee nikdo nev\u011bd\u011bl, co Viktorce je, tak jsme zpo\u010d\u00e1tku sl\u00fdchali jen to, \u017ee bude le\u017e\u00e1k a \u017ee bude hluch\u00e1 a slep\u00e1. My se ale nenechali odb\u00fdt, cht\u011bli jsme zkr\u00e1tka v\u011bd\u011bt, v \u010dem ten probl\u00e9m v\u011bz\u00ed,\u201c \u0159\u00edk\u00e1 Viktor\u010din otec Pavel.<\/p>\n\n\n\n
Nakonec do\u0161lo a\u017e na slo\u017eit\u00e9 genetick\u00e9 testy, kter\u00e9 odhalily pravou p\u0159\u00ed\u010dinu. \u201eZjistilo se, \u017ee jej\u00ed gen nen\u00ed kompletn\u00ed. V Americe na to pr\u00fd prob\u00edh\u00e1 v\u00fdzkum, ale l\u00e9k zat\u00edm neexistuje. \u017d\u00e1dn\u00e1 genov\u00e1 terapie nebo n\u011bco podobn\u00e9ho nen\u00ed,\u201c dod\u00e1v\u00e1 Lenka.<\/p>\n\n\n\n
Sb\u00edrka na auto s rampou<\/p>\n\n\n\n
Matou\u0161kovi bydl\u00ed v T\u0159eb\u00ed\u010di a p\u00e9\u010de o Viktorku, kter\u00e9 jsou nyn\u00ed necel\u00e9 t\u0159i roky, je pro n\u011b velice n\u00e1ro\u010dn\u00e1. Viktorka je ment\u00e1ln\u011b na \u00farovni zhruba p\u016flro\u010dn\u00edho d\u00edt\u011bte. Nedok\u00e1\u017ee ani sama sed\u011bt bez podpory, neleze ani nechod\u00ed. Nemluv\u00ed, nenakrm\u00ed se ani nenapije. Rodi\u010de s n\u00ed jezd\u00ed n\u011bkolikr\u00e1t t\u00fddn\u011b do Brna na speci\u00e1ln\u00ed cvi\u010den\u00ed. \u201eSt\u0159\u00edd\u00e1me se. Kdy\u017e nemus\u00edm do pr\u00e1ce, jedu j\u00e1, man\u017eelka si aspo\u0148 odpo\u010dine. Jezd\u00edme vlakem, proto\u017ee zdravotn\u00ed ko\u010d\u00e1r se n\u00e1m do auta nevejde. V\u017edy si p\u0159edem mus\u00edme domluvit u drah asistenci. Cvi\u010den\u00ed v Brn\u011b na\u0161t\u011bst\u00ed prob\u00edh\u00e1 nedaleko n\u00e1dra\u017e\u00ed,\u201c popisuje Pavel.<\/p>\n\n\n\n
Naprostou v\u011bt\u0161inu pom\u016fcek \u010di cvi\u010den\u00ed hrad\u00ed poji\u0161\u0165ovna jen z \u010d\u00e1sti, a proto Matou\u0161kovi musej\u00ed spol\u00e9hat na nejr\u016fzn\u011bj\u0161\u00ed don\u00e1tory \u010di nadace. Pavel Matou\u0161ek v\u00fd\u0161e uvedl probl\u00e9m, kter\u00fd rodinu p\u00e1l\u00ed nejv\u00edce \u2013 pot\u0159ebovali by v\u011bt\u0161\u00ed auto. \u201eVyhl\u00e1sili jsme sb\u00edrku na v\u011bt\u0161\u00ed auto, do kter\u00e9ho bude mo\u017en\u00e9 bez probl\u00e9m\u016f nainstalovat i n\u00e1jezdovou rampu. Do sou\u010dasn\u00e9ho, kter\u00e9 je nav\u00edc osmn\u00e1ct let star\u00e9, se n\u00e1m u\u017e v\u011bt\u0161ina pom\u016fcek nevejde. A Viktorka brzy bude pot\u0159ebovat invalidn\u00ed voz\u00edk. Ten sou\u010dasn\u00fdm autem nep\u0159evezeme u\u017e v\u016fbec,\u201c vysv\u011btluje Pavel s t\u00edm, \u017ee nejl\u00e9pe by vyhovoval Volkswagen Caddy se speci\u00e1ln\u00ed \u00fapravou. \u201eNav\u00edc to nen\u00ed dod\u00e1vka, ale po\u0159\u00e1d osob\u00e1k. Man\u017eelka by se s dod\u00e1vkou b\u00e1la jezdit, ta by na ni byla u\u017e moc velk\u00e1.\u201c<\/p>\n\n\n\n
Sb\u00edrka na auto prob\u00edh\u00e1 na port\u00e1lu Znesnaze21.cz a c\u00edlov\u00e1 \u010d\u00e1stka je 540 tis\u00edc korun.<\/p>\n\n\n\n
P\u00e9\u010de 24 hodin denn\u011b<\/p>\n\n\n\n
Krom\u011b terapi\u00ed v Brn\u011b cvi\u010d\u00ed rodi\u010de s Viktorkou ka\u017ed\u00fd den i doma. Viktorka ji\u017e nyn\u00ed v\u00e1\u017e\u00ed \u0161estn\u00e1ct kilogram\u016f a speci\u00e1ln\u00ed ko\u010d\u00e1r p\u011btadvacet. \u201eU\u017e se to projevuje na m\u00fdch z\u00e1dech,\u201c \u0159\u00edk\u00e1 Lenka.<\/p>\n\n\n\n
Sna\u017e\u00ed se, aby to zn\u011blo vesele, ale situace Matou\u0161kov\u00fdch rozhodn\u011b vesel\u00e1 nen\u00ed. Viktorka je jejich vytou\u017een\u00e9 d\u00edt\u011b, jemu\u017e se ale nyn\u00ed musej\u00ed v\u011bnovat \u010dty\u0159iadvacet hodin denn\u011b. \u201eMy se o d\u011b\u0165\u00e1tko dlouho pokou\u0161eli, ale nevych\u00e1zelo to. Nakonec jsme zkusili um\u011bl\u00e9 oplodn\u011bn\u00ed a to se povedlo. V\u0161echny genetick\u00e9 a dal\u0161\u00ed testy b\u011bhem t\u011bhotenstv\u00ed byly v naprost\u00e9m po\u0159\u00e1dku. Teprve asi dev\u011bt t\u00fddn\u016f po porodu se zjistilo, \u017ee Viktor\u010din v\u00fdvoj neodpov\u00edd\u00e1 v\u00fdvoji jin\u00fdch d\u011bt\u00ed,\u201c dod\u00e1v\u00e1 Lenka.<\/p>\n\n\n\n
Je to slo\u017eit\u00e1 situace, kterou si mnoz\u00ed lid\u00e9 maj\u00edc\u00ed zdrav\u00e9 d\u011bti nedok\u00e1\u017eou mo\u017en\u00e1 ani p\u0159edstavit. Matou\u0161kovi se ale nevzd\u00e1vaj\u00ed. Stejn\u011b jako si zarputile \u0161li za sv\u00fdm s c\u00edlem zjistit p\u0159esnou p\u0159\u00ed\u010dinu posti\u017een\u00ed sv\u00e9 dcerky, nyn\u00ed ka\u017ed\u00fd den bojuj\u00ed a sna\u017e\u00ed se Viktorku posunout d\u00e1le do \u017eivota. V\u0161echna ta cvi\u010den\u00ed, polohov\u00e1n\u00ed, pobyty v l\u00e1zn\u00edch a na nejr\u016fzn\u011bj\u0161\u00edch terapi\u00edch jsou vlastn\u011b milimetrov\u00fdmi kr\u016f\u010dky kup\u0159edu. Aby se takto mohli Viktorce v\u011bnovat i b\u011bhem p\u0159\u00ed\u0161t\u00edch m\u011bs\u00edc\u016f, nutn\u011b pot\u0159ebuj\u00ed v\u011bt\u0161\u00ed auto. \u201eD\u011bkujeme ka\u017ed\u00e9mu, kdo p\u0159isp\u011bje ve sb\u00edrce,\u201c vzkazuj\u00ed mlad\u00ed man\u017eel\u00e9.<\/p>\n\n\n\n
Co je CACNA1A?<\/p>\n\n\n\n
Nesm\u00edrn\u011b vz\u00e1cn\u00e1 genetick\u00e1 mutace. Podle webov\u00e9 str\u00e1nky www.cacna1a.org, kter\u00e1 informuje o v\u00fdzkumu t\u00e9to choroby a sdru\u017euje osoby s t\u00edmto posti\u017een\u00edm, bylo v roce 2024 po cel\u00e9m sv\u011bt\u011b diagnostikov\u00e1no jen kolem dvou tis\u00edc takov\u00fdch lid\u00ed. Zm\u00edn\u011bn\u00e1 str\u00e1nka jich sdru\u017euje zhruba desetinu.<\/p>\n\n\n\n
Lze CACNA1A l\u00e9\u010dit?<\/p>\n\n\n\n
Zat\u00edm ne, existuj\u00ed jen d\u00edl\u010d\u00ed klinick\u00e9 studie. Rodin\u00e1m, v nich\u017e bylo diagnostikov\u00e1no toto onemocn\u011bn\u00ed, se doporu\u010duje, aby se p\u0159ipojily ke komunit\u011b www.cacna1a.org. \u010c\u00edm v\u00edce informac\u00ed budou odborn\u00edci m\u00edt, t\u00edm sp\u00ed\u0161e bude mo\u017en\u00e9 vyvinout l\u00e9\u010debn\u00e9 prost\u0159edky.<\/p>\n\n\n\n
Jsou v\u0161echny diagn\u00f3zy CACNA1A stejn\u00e9?<\/p>\n\n\n\n
Z\u0159ejm\u011b nikoli. Jednou z nejstar\u0161\u00edch osob s t\u00edmto posti\u017een\u00edm je \u017eena jm\u00e9nem Emily, kter\u00e1 za rok oslav\u00ed t\u0159icetiny. T\u00e9 se s touto genetickou vadou poda\u0159ilo dokonce vystudovat vysokou \u0161kolu. V\u011bt\u0161ina nemocn\u00fdch je v\u0161ak mnohem mlad\u0161\u00edho v\u011bku a trp\u00ed r\u016fzn\u00fdmi stupni psychomotorick\u00e9 \u010di ment\u00e1ln\u00ed retardace.<\/p>\n\n\n\n
Sb\u00edrka na auto pro Viktorku Matou\u0161kovou<\/p>\n\n\n\n
Kon\u00e1 se na www.znesnaze21.cz\/sbirka\/viktorka-bojuje-se-vzacnym-onemocnenim-pomozme-ji<\/p>\n\n\n\n
Vyb\u00edr\u00e1 se 540 tis\u00edc korun, p\u0159\u00edpadn\u00e1 \u010d\u00e1stka nav\u00edc bude v\u011bnov\u00e1na na \u00fahradu pot\u0159ebn\u00fdch a finan\u010dn\u011b nesm\u00edrn\u011b n\u00e1ro\u010dn\u00fdch terapi\u00ed a rehabilitac\u00ed.<\/p>\n\n\n\n
Milan Kr\u010dm\u00e1\u0159<\/p>\n\n\n\n
T\u0159eb\u00ed\u010dsk\u00fd den\u00edk<\/p>\n\n\n\n
https:\/\/trebicsky.denik.cz<\/a><\/p>\n","protected":false},"excerpt":{"rendered":" T\u0159\u00edlet\u00e1 Viktorka Matou\u0161kov\u00e1 z T\u0159eb\u00ed\u010de trp\u00ed nesm\u00edrn\u011b vz\u00e1cnou genetickou vadou. Jej\u00ed rodi\u010de s n\u00ed pravideln\u011b cvi\u010d\u00ed, jezd\u00ed na rehabilitace do Brna a del\u0161\u00ed pobyty v […]<\/a><\/p>\n<\/div>","protected":false},"author":1,"featured_media":21454,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[9],"tags":[],"class_list":["post-63442","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\/63442","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=63442"}],"version-history":[{"count":0,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts\/63442\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/media\/21454"}],"wp:attachment":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=63442"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=63442"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=63442"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}