T\u0159\u00edlet\u00e1 Laurinka Hub\u00e1lkov\u00e1 z Lan\u0161krouna trp\u00ed od narozen\u00edm vz\u00e1cn\u00fdm Kabuki syndromem. Chodit za\u010dala teprve p\u0159ed V\u00e1noci, na jedno oko v\u016fbec nevid\u00ed, m\u00e1 probl\u00e9my se sluchem i srdcem. Jej\u00ed rodi\u010de \u017e\u00e1dali o p\u0159\u00edsp\u011bvek na auto, proto\u017ee pravideln\u011b jezd\u00ed k l\u00e9ka\u0159\u016fm po cel\u00e9 republice. S \u017e\u00e1dost\u00ed neusp\u011bli. \u00da\u0159edn\u00edci toti\u017e nemaj\u00ed syndrom Kabuki v tabulk\u00e1ch a dr\u017e\u00ed se striktn\u011b podm\u00ednek pro p\u0159\u00edsp\u011bvky dan\u00e9 z\u00e1konem.<\/p>\n\n\n\n
Hub\u00e1lkovi cht\u011bj\u00ed, aby se z\u00e1kon a zastaral\u00e9 seznamy nemoc\u00ed zm\u011bnily. \u201eKabuki d\u011bt\u00ed p\u0159ib\u00fdv\u00e1 a cht\u011bli bychom to dostat v\u00edce do pov\u011bdom\u00ed lid\u00ed, aby se to t\u0159eba dostalo i d\u00e1l a m\u011bly tyto d\u011bti n\u00e1rok na to b\u00fdt „tabulkov\u00fd“, a\u0165 u\u017e pro poji\u0161\u0165ovny nebo pro p\u0159\u00edsp\u011bvky,\u201c \u0159ekla maminka Laury Pavl\u00edna Hub\u00e1lkov\u00e1.<\/p>\n\n\n\n
Kdy\u017e p\u0159i\u0161la Laura na sv\u011bt, rodi\u010de ani l\u00e9ka\u0159i na prvn\u00ed pohled nepoznali, \u017ee s hol\u010di\u010dkou nen\u00ed n\u011bco v po\u0159\u00e1dku. Ani druh\u00fd den se v\u0161ak necht\u011bla p\u0159is\u00e1t a m\u011bla divn\u00fd pl\u00e1\u010d, co\u017e se mamince Pavl\u00edn\u011b moc nezd\u00e1lo.<\/p>\n\n\n\n
\u201eL\u00e9ka\u0159i zjistili, \u017ee m\u00e1 roz\u0161t\u011bp m\u011bkk\u00e9ho patra. Den na to mi ozn\u00e1mili, \u017ee m\u00e1 asi \u0161ed\u00fd z\u00e1kal. T\u00edm se to rozb\u011bhlo, vzali j\u00ed z pati\u010dky krev, ale testy nic neprok\u00e1zaly. Poslali n\u00e1s na genetiku do Brna. Na v\u00fdsledky jsme \u010dekali t\u0159i \u010dtvrt\u011b roku, pak p\u0159i\u0161lo, \u017ee m\u00e1 potvrzen\u00fd Kabuki syndrom a dal\u0161\u00ed genetick\u00e9 vady, kter\u00e9 ani nejsou ve sv\u011bt\u011b popsan\u00e9,\u201c vzpom\u00ednala maminka Laury Pavl\u00edna Hub\u00e1lkov\u00e1. Rozjel se koloto\u010d vy\u0161et\u0159en\u00ed a tak\u00e9 operac\u00ed. Dosud m\u00e1 za sebou t\u0159\u00edlet\u00e1 Laurinka dev\u011bt operac\u00ed a dal\u0161\u00ed ji \u010dekaj\u00ed.<\/p>\n\n\n\n
Hol\u010di\u010dka chod\u00ed doma s ko\u010d\u00e1rkem, chv\u00edli hraje speci\u00e1ln\u00ed hry na tabletu a pak s maminkou cvi\u010d\u00ed. Je\u0161t\u011b p\u0159ed n\u011bkolika t\u00fddny se v\u0161ak po byt\u011b pohybovala jen po \u010dty\u0159ech. \u201eLaura se rozchodila a\u017e p\u0159ed V\u00e1noci, a to d\u00edky fyzioterapi\u00edm. Cvi\u010d\u00edme s n\u00ed my a t\u0159ikr\u00e1t t\u00fddn\u011b k n\u00e1m dom\u016f jezd\u00ed fyzioterapeut. Ud\u011blala velk\u00e9 pokroky, i tak je ale ve v\u00fdvoji opo\u017ed\u011bn\u00e1 asi o rok a \u010dtvrt,\u201c \u0159ekla Hub\u00e1lkov\u00e1.<\/p>\n\n\n\n
Laurinka srozumiteln\u011b nemluv\u00ed, rodi\u010d\u016fm i v\u0161em okolo sice rozum\u00ed, ale sama komunikuje rukama a jak\u00fdmsi \u201ehuh\u0148\u00e1n\u00edm\u201c. P\u00e9\u010de o dceru maminku zam\u011bstn\u00e1v\u00e1 24 hodin denn\u011b, s man\u017eelem Romanem maj\u00ed je\u0161t\u011b o dva roky star\u0161\u00edho syna. Situace rodiny nen\u00ed jednoduch\u00e1 a p\u0159ed n\u011bkolika dny se je\u0161t\u011b v\u00edce zkomplikovala. V listopadu, kdy\u017e Laura oslavila t\u0159et\u00ed narozeniny, po\u017e\u00e1dali o p\u0159\u00edsp\u011bvek od st\u00e1tu na auto. Na zhruba 200 tis\u00edc korun v\u0161ak n\u00e1rok podle \u00fa\u0159edn\u00edk\u016f nemaj\u00ed.<\/p>\n\n\n\n
\u201eK \u017e\u00e1dosti jsme p\u0159ilo\u017eili ve\u0161ker\u00e9 Laury l\u00e9ka\u0159sk\u00e9 zpr\u00e1vy, pediatri\u010dka napsala hodnocen\u00ed a zpr\u00e1vu. P\u0159ed \u010dtrn\u00e1cti dny n\u00e1m p\u0159i\u0161lo rozhodnut\u00ed, \u017ee nem\u00e1me na p\u0159\u00edsp\u011bvek n\u00e1rok. Posudkov\u00fd l\u00e9ka\u0159 p\u00ed\u0161e, \u017ee Laurinka m\u00e1 sice t\u011b\u017ek\u00e9 ment\u00e1ln\u00ed i pohybov\u00e9 posti\u017een\u00ed, ale nespad\u00e1 taxativn\u011b do tabulek. Jednou z podm\u00ednek, abychom pen\u00edze dostali, je paradoxn\u011b ztr\u00e1ta kon\u010detin,\u201c kroutila nev\u011b\u0159\u00edcn\u011b hlavou maminka Laury.<\/p>\n\n\n\n
V\u0161e se zkomplikovalo je\u0161t\u011b v\u00edc, kdy\u017e se jejich auto rozbilo p\u0159i cest\u011b k l\u00e9ka\u0159i do Brna. \u201eS v\u00fddaji, kter\u00e9 s Laurinkou m\u00e1me, absolutn\u011b nezvl\u00e1dneme na\u0161et\u0159it na nov\u00e9 auto. M\u00e1me p\u0159\u00edsp\u011bvek na p\u00e9\u010di, man\u017eel\u016fv plat, ale plat\u00edme hypot\u00e9ku, dost taky zdra\u017eily energie, potraviny. V sou\u010dasn\u00e9 dob\u011b m\u00e1me p\u016fj\u010den\u00e9 auto od zn\u00e1m\u00e9ho,\u201c vysv\u011btlila mlad\u00e1 maminka. P\u0159izn\u00e1v\u00e1, \u017ee neb\u00fdt rodiny, tak by v\u00fddaje ani neut\u00e1hli. Pom\u00e1haj\u00ed jim tak\u00e9 lid\u00e9 v okol\u00ed, kte\u0159\u00ed pro Laurinku pravideln\u011b po\u0159\u00e1daj\u00ed sb\u00edrky.<\/p>\n\n\n\n
\u00da\u0159edn\u00edci si stoj\u00ed za sv\u00fdm, \u017ee mus\u00ed rozhodovat podle z\u00e1kona. Individu\u00e1ln\u00ed posouzen\u00ed situace nen\u00ed podle ministerstva pr\u00e1ce a soci\u00e1ln\u00edch v\u011bc\u00ed mo\u017en\u00e9.<\/p>\n\n\n\n
\u201eJe n\u00e1m velmi l\u00edto situace, kterou rodina pro\u017e\u00edv\u00e1. Nicm\u00e9n\u011b je nutn\u00e9 konstatovat, \u017ee l\u00e9ka\u0159i mus\u00ed p\u0159i posuzov\u00e1n\u00ed n\u00e1roku na p\u0159\u00edsp\u011bvek na zvl\u00e1\u0161tn\u00ed pom\u016fcku hodnotit zdravotn\u00ed stav podle platn\u00e9 legislativy a akceptovat pouze v\u00fd\u010det zdravotn\u00edch posti\u017een\u00ed uveden\u00fd v z\u00e1kon\u011b,\u201c sd\u011blil mluv\u010d\u00ed ministerstva Jakub Augusta.<\/p>\n\n\n\n
N\u00e1rok na p\u0159\u00edsp\u011bvek na po\u0159\u00edzen\u00ed motorov\u00e9ho vozidla vznik\u00e1 podle ministerstva osob\u011b, kter\u00e1 trp\u00ed dlouhodob\u011b nep\u0159\u00edzniv\u00fdm zdravotn\u00edm stavem, kter\u00fd je popsan\u00fd v p\u0159\u00edloze z\u00e1kona. \u201eJedn\u00e1 se nap\u0159\u00edklad o t\u011b\u017ek\u00e9 posti\u017een\u00ed pohybov\u00e9ho apar\u00e1tu, zejm\u00e9na posti\u017een\u00ed funkce doln\u00edch kon\u010detin. D\u00e1le maj\u00ed n\u00e1rok na p\u0159\u00edsp\u011bvek osoby s t\u011b\u017ek\u00fdm nebo hlubok\u00fdm ment\u00e1ln\u00edm posti\u017een\u00edm nebo stavy na rozhran\u00ed t\u011b\u017ek\u00e9 ment\u00e1ln\u00ed retardace a osoby s autistick\u00fdmi poruchami s t\u011b\u017ek\u00fdm funk\u010dn\u00edm posti\u017een\u00edm,\u201c doplnil Augusta.<\/p>\n\n\n\n
Rodina podle n\u011bho m\u016f\u017ee vyu\u017e\u00edt na cestu k l\u00e9ka\u0159i sanitu. \u201ePokud l\u00e9ka\u0159 vystav\u00ed pro p\u0159evoz \u017e\u00e1danku, hrad\u00ed transport zdravotn\u00ed poji\u0161\u0165ovna,\u201c uzav\u0159el mluv\u010d\u00ed ministerstva. Jen\u017ee tohle zd\u00e1nliv\u011b dobr\u00e9 \u0159e\u0161en\u00ed m\u00e1 h\u00e1\u010dek. Mal\u00e1 Laura str\u00e1vila za sv\u016fj kr\u00e1tk\u00fd \u017eivot mnoho \u010dasu v nemocnic\u00edch a u l\u00e9ka\u0159\u016f. \u201eCestov\u00e1n\u00ed sanitkou nep\u0159ipad\u00e1 v \u00favahu. Pediatri\u010dka by n\u00e1m sanitku napsala, ale Laurinka m\u00e1 syndrom b\u00edl\u00e9ho pl\u00e1\u0161t\u011b. V\u016fbec bychom ji do toho auta nedostali,\u201c dodala Hub\u00e1lkov\u00e1.<\/p>\n\n\n\n
Rodi\u010de se mohou proti rozhodnut\u00ed odvolat, ale na vy\u0159\u00edzen\u00ed odvol\u00e1n\u00ed maj\u00ed \u00fa\u0159ady a\u017e t\u0159i \u010dtvrt\u011b roku. \u201eNa soci\u00e1lce n\u00e1m doporu\u010dili, \u017ee je lep\u0161\u00ed podat novou \u017e\u00e1dost a p\u0159idat nejnov\u011bj\u0161\u00ed l\u00e9ka\u0159sk\u00e9 zpr\u00e1vy. Hlavn\u00ed chyba je, \u017ee onemocn\u011bn\u00ed Laury nen\u00ed v tabulce. Musela by p\u0159ij\u00edt o ruku nebo nohu, abychom na p\u0159\u00edsp\u011bvek dos\u00e1hli, co\u017e mi p\u0159ijde \u00fapln\u011b \u0161\u00edlen\u00e9. Ozvali se n\u00e1m lid\u00e9 se stejn\u00fdm probl\u00e9mem, kter\u00fdm dokto\u0159i \u0159ekli, \u017ee je jejich d\u00edt\u011b m\u00e1lo posti\u017een\u00e9,\u201c sv\u011b\u0159ila se maminka Laury.<\/p>\n\n\n\n
Vypracov\u00e1n\u00ed posudku o zdravotn\u00edm stavu \u017eadatele o p\u0159\u00edsp\u011bvek m\u00e1 pln\u011b v rukou posudkov\u00fd l\u00e9ka\u0159. \u201eK posouzen\u00ed zdravotn\u00edho stavu \u017eadatele je p\u0159\u00edslu\u0161n\u00e1 pouze l\u00e9ka\u0159sk\u00e1 posudkov\u00e1 slu\u017eba na Okresn\u00ed spr\u00e1v\u011b soci\u00e1ln\u00edho zabezpe\u010den\u00ed. Nov\u011b od 1. ledna 2024 se jedn\u00e1 o institut posuzov\u00e1n\u00ed zdravotn\u00edho stavu, kter\u00fd spad\u00e1 pod \u010ceskou spr\u00e1vu soci\u00e1ln\u00edho zabezpe\u010den\u00ed,\u201c informoval mluv\u010d\u00ed \u00da\u0159adu pr\u00e1ce Luk\u00e1\u0161 Kotl\u00e1r.<\/p>\n\n\n\n
Jistou nad\u011bji by v\u0161ak rodina m\u00edt mohla. Radn\u00ed Pardubick\u00e9ho kraje zodpov\u011bdn\u00fd za soci\u00e1ln\u00ed p\u00e9\u010di Pavel \u0160otola rad\u00ed podat odvol\u00e1n\u00ed. A to nen\u00ed jedin\u00e1 cesta, jak rozhodnut\u00ed zvr\u00e1tit. \u201eDal\u0161\u00ed mo\u017enost\u00ed je obr\u00e1tit se na ministerstvo pr\u00e1ce a soci\u00e1ln\u00edch v\u011bc\u00ed nebo p\u0159\u00edmo na pana ministra s \u017e\u00e1dost\u00ed o odstran\u011bn\u00ed tvrdosti z\u00e1kona. P\u0159\u00edpadn\u011b m\u016f\u017ee rodina hledat pomoc u nadac\u00ed, kter\u00e9 maj\u00ed v t\u00e9to oblasti zku\u0161enosti,\u201c uvedl Pavel \u0160otola. Velk\u00e9 zku\u0161enosti v odborn\u00e9m soci\u00e1ln\u00edm poradenstv\u00ed, a\u0165 se jedn\u00e1 o pr\u00e1vn\u00ed pomoc, pod\u00e1v\u00e1n\u00ed odvol\u00e1n\u00ed, odstra\u0148ov\u00e1n\u00ed tvrdosti z\u00e1kona, komunikace s nadacemi podle \u0160otoly maj\u00ed v poradn\u011b N\u00e1rodn\u00ed rady osob se zdravotn\u00edm posti\u017een\u00edm pro Pardubick\u00fd kraj.<\/p>\n\n\n\n
Prvn\u00ed d\u00edt\u011b, kter\u00e9mu l\u00e9ka\u0159i Kabuki syndrom v \u010cesku diagnostikovali, byl dnes dvacetilet\u00fd Daniel Kore\u0148. I jeho rodina bojovala o p\u0159\u00edsp\u011bvek na auto, ale marn\u011b. St\u00e1t rodin\u011b up\u0159el a\u017e dvousettis\u00edcov\u00fd p\u0159\u00edsp\u011bvek na po\u0159\u00edzen\u00ed auta, kter\u00fd vypl\u00e1c\u00ed \u00da\u0159ad pr\u00e1ce. Auto si museli koupit ze sv\u00e9ho, i kdy\u017e je cestov\u00e1n\u00ed na vy\u0161et\u0159en\u00ed do nemocnic n\u00e1ro\u010dn\u00e9.<\/p>\n\n\n\n
Kabuki syndrom pat\u0159\u00ed mezi velmi vz\u00e1cn\u00e1 genetick\u00e1 onemocn\u011bn\u00ed. Postihuje jednoho \u010dlov\u011bka ze dvou a\u017e t\u0159\u00ed set tis\u00edc.<\/p>\n\n\n\n
Kabuki syndrom, d\u0159\u00edve tak\u00e9 zn\u00e1m\u00fd jako Kabuki Mask Syndrome nebo Niikawa Kuroki syndrom, je vz\u00e1cn\u00e1 vrozen\u00e1 porucha zp\u016fsoben\u00e1 mutacemi v genu MLL2. Protein MLL2 je epigenetick\u00fd autor, kter\u00fd p\u0159id\u00e1v\u00e1 methylov\u00e9 skupiny k aminokyselin\u011b lysinu na pozici 4 histonu H3, to znamen\u00e1, \u017ee nejsou schopny spr\u00e1vn\u011b zapsat sv\u016fj epigenetick\u00fd k\u00f3d a d\u016fsledkem jsou p\u0159\u00edznaky onemocn\u011bn\u00ed, kter\u00e9 zp\u016fsobuje mnoho\u010detn\u00e9 vrozen\u00e9 anom\u00e1lie a ment\u00e1ln\u00ed retardace. Doprovodn\u00fdmi p\u0159\u00edznaky jsou srde\u010dn\u00ed vady, hypotonie, roz\u0161t\u011bpy patra, hodn\u011b odst\u00e1t\u00e9 u\u0161i, \u010dast\u00e9 infekce d\u00fdchac\u00edch cest, z\u00e1n\u011bty st\u0159edn\u00edho ucha, lehk\u00e1 a\u017e st\u0159edn\u011b t\u011b\u017ek\u00e1 ment\u00e1ln\u00ed retardace.<\/p>\n\n\n\n
Syndrom objevili dva japon\u0161t\u00ed v\u011bdci: Norio Niikawa a Yoshikazu Kuroki. Onemocn\u011bn\u00ed je zn\u00e1m\u00e9 jako Kabuki syndrom kv\u016fli podobnosti obli\u010deje s maskou kabuki. D\u011bti posti\u017een\u00e9 touto poruchou jsou zn\u00e1m\u00e9 jako Kabuki Children Kabuki syndrom.<\/p>\n\n\n\n
Iveta N\u00e1dvorn\u00edkov\u00e1<\/p>\n\n\n\n
Hradeck\u00fd den\u00edk<\/p>\n\n\n\n
https:\/\/hradecky.denik.cz\/<\/a><\/p>\n","protected":false},"excerpt":{"rendered":" T\u0159\u00edlet\u00e1 Laurinka Hub\u00e1lkov\u00e1 z Lan\u0161krouna trp\u00ed od narozen\u00edm vz\u00e1cn\u00fdm Kabuki syndromem. Chodit za\u010dala teprve p\u0159ed V\u00e1noci, na jedno oko v\u016fbec nevid\u00ed, m\u00e1 probl\u00e9my se sluchem […]<\/a><\/p>\n<\/div>","protected":false},"author":1,"featured_media":22866,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[9],"tags":[],"class_list":["post-45900","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\/45900","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=45900"}],"version-history":[{"count":0,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts\/45900\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/media\/22866"}],"wp:attachment":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=45900"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=45900"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=45900"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}