M\u00ed\u0161ovi je jednat\u0159icet let. \u017dije se syndromem Dravetov\u00e9, m\u00e1 t\u011b\u017ek\u00e9 ment\u00e1ln\u00ed posti\u017een\u00ed a poruchu autistick\u00e9ho spektra. M\u016f\u017ee kdykoliv dostat epileptick\u00fd z\u00e1chvat a je odk\u00e1z\u00e1n na neust\u00e1l\u00fd dohled a pomoc. Nemluv\u00ed, p\u0159esto mu bl\u00edzc\u00ed lid\u00e9 rozum\u011bj\u00ed. O velmi t\u011b\u017ek\u00e9, ale p\u0159itom obohacuj\u00edc\u00ed p\u00e9\u010di o v\u00e1\u017en\u011b posti\u017een\u00e9ho mu\u017ee vypr\u00e1v\u00ed jeho asistent Ivan Prchal.<\/p>\n\n\n\n
Syndrom Dravetov\u00e9 je vz\u00e1cn\u00e9 z\u00e1va\u017en\u00e9 genetick\u00e9 onemocn\u011bn\u00ed, kter\u00e9 se obvykle projev\u00ed u\u017e v prvn\u00edm roce \u017eivota t\u00edm, \u017ee d\u00edt\u011b za\u010dnou su\u017eovat t\u011b\u017ek\u00e9 epileptick\u00e9 z\u00e1chvaty. B\u011bhem druh\u00e9ho roku se pak za\u010dne projevovat druh\u00e9 specifikum onemocn\u011bn\u00ed v podob\u011b zpomalen\u00e9ho ment\u00e1ln\u00edho rozvoje.<\/p>\n\n\n\n
Syndrom Dravetov\u00e9 je nej\u010dast\u011bji zp\u016fsoben mutac\u00ed genu SCN1A. Mutace vznik\u00e1 n\u00e1hodn\u011b \u2013 nen\u00ed d\u011bdi\u010dn\u00e1 a nijak nesouvis\u00ed s chov\u00e1n\u00edm rodi\u010d\u016f v t\u011bhotenstv\u00ed nebo po narozen\u00ed d\u00edt\u011bte. Rodi\u010de tedy za vznik onemocn\u011bn\u00ed nenesou \u017e\u00e1dnou vinu.<\/p>\n\n\n\n
Onemocn\u011bn\u00ed je velmi v\u00e1\u017en\u00e9, proto\u017ee ovliv\u0148uje v\u00fdvoj mozku, motoriku, komunikaci i chov\u00e1n\u00ed. U v\u011bt\u0161iny lid\u00ed se syndromem Dravetov\u00e9 p\u0159etrv\u00e1vaj\u00ed pot\u00ed\u017ee po cel\u00fd \u017eivot, tak\u017ee vy\u017eaduj\u00ed nep\u0159etr\u017eitou podporu a dohled.<\/p>\n\n\n\n
Jedn\u00edm z nich je i Michal, mlad\u00fd mu\u017e z Orlicko\u00fastecka, kter\u00fd vedle syndromu Dravetov\u00e9 trp\u00ed i dal\u0161\u00edmi z\u00e1va\u017en\u00fdmi probl\u00e9my. Jeho \u017eivot je extr\u00e9mn\u011b n\u00e1ro\u010dn\u00fd. A mimo\u0159\u00e1dn\u011b t\u011b\u017ek\u00fd je i \u017eivot lid\u00ed, kte\u0159\u00ed o n\u011bj pe\u010duj\u00ed a sna\u017e\u00ed se, aby c\u00edtil nejen jejich p\u00e9\u010di, ale i l\u00e1skyplnou podporu.<\/p>\n\n\n\n
Z\u00e1chvat m\u016f\u017ee p\u0159ij\u00edt kdykoliv<\/p>\n\n\n\n
\u201eKlient, o kter\u00e9ho se star\u00e1m, se jmenuje M\u00ed\u0161a. Je mu jednat\u0159icet let a \u017eije se syndromem Dravetov\u00e9, t\u011b\u017ek\u00fdm ment\u00e1ln\u00edm posti\u017een\u00edm a poruchou autistick\u00e9ho spektra. J\u00e1 jsem jeho osobn\u00ed asistent. Ne odborn\u00edk od stolu, ale \u010dlov\u011bk, kter\u00fd s n\u00edm sd\u00edl\u00ed b\u011b\u017en\u00e9 dny, ticho, nap\u011bt\u00ed i mal\u00e9 z\u00e1zraky,\u201c \u0159\u00edk\u00e1 Ivan Prchal.<\/p>\n\n\n\n
Co v\u0161echno vy\u017eaduje p\u00e9\u010de o M\u00ed\u0161u? Chod\u00ed p\u0159ibli\u017en\u011b jako ro\u010dn\u00ed d\u00edt\u011b. Jeho ch\u016fze je tedy nejist\u00e1, pomal\u00e1 a \u010del\u00ed p\u0159i n\u00ed velk\u00e9mu riziku, proto\u017ee epileptick\u00fd z\u00e1chvat m\u016f\u017ee p\u0159ij\u00edt kdykoli \u2013 i b\u011bhem pohybu.<\/p>\n\n\n\n
\u201eMus\u00edm b\u00fdt neust\u00e1le nabl\u00edzku, p\u0159ipraven\u00fd zachytit ho, kdy\u017e pad\u00e1, chr\u00e1nit mu hlavu a uklidnit t\u011blo, kter\u00e9 najednou p\u0159estane poslouchat,\u201c vysv\u011btluje jeho asistent.<\/p>\n\n\n\n
Epileptick\u00e9 z\u00e1chvaty jsou nevyzpytateln\u00e9. P\u0159ich\u00e1zej\u00ed p\u0159i ch\u016fzi, p\u0159i \u00fanav\u011b, pokud jeho teplota t\u011bla stoupne nad 37 \u00b0Celsia, ale i p\u0159i siln\u00e9 kladn\u00e9 emoci.<\/p>\n\n\n\n
\u201ePom\u011brn\u011b specifick\u00fdm spou\u0161t\u011b\u010dem z\u00e1chvat\u016f jsou pr\u00e1v\u011b emoce, zejm\u00e9na ty pozitivn\u00ed. Jakmile m\u00e1 \u010dlov\u011bk se syndromem Dravetov\u00e9 radost, je rozru\u0161en\u00fd a opravdu siln\u011b n\u011bco pro\u017e\u00edv\u00e1, m\u016f\u017ee to vyvolat z\u00e1chvat,\u201c \u0159ekla p\u0159ed ned\u00e1vnem Den\u00edku l\u00e9ka\u0159ka Katalin \u0160t\u011brbov\u00e1 z Kliniky d\u011btsk\u00e9 neurologie 2. l\u00e9ka\u0159sk\u00e9 fakulty Univerzity Karlovy a Fakultn\u00ed nemocnice Motol.<\/p>\n\n\n\n
Radost, t\u011b\u0161en\u00ed, vzru\u0161en\u00ed \u2013 to v\u0161e m\u016f\u017ee tedy b\u00fdt spou\u0161t\u011b\u010dem. \u201eJe t\u011b\u017ek\u00e9 vysv\u011btlit, jak\u00e9 to je, kdy\u017e vid\u00edte \u010dlov\u011bka, kter\u00e9ho m\u00e1te r\u00e1di, a v\u00edte, \u017ee i hezk\u00fd okam\u017eik m\u016f\u017ee skon\u010dit z\u00e1chvatem. Radost se tu m\u00eds\u00ed se strachem a neust\u00e1lou ostra\u017eitost\u00ed,\u201c upozor\u0148uje Ivan Prchal.<\/p>\n\n\n\n
M\u00ed\u0161a je inkontinentn\u00ed a pln\u011b odk\u00e1zan\u00fd na pomoc ostatn\u00edch p\u0159i hygien\u011b, obl\u00e9k\u00e1n\u00ed i p\u0159i j\u00eddle. \u201eJsou to v\u011bci, o kter\u00fdch se moc nep\u00ed\u0161e, ale tvo\u0159\u00ed podstatnou \u010d\u00e1st reality t\u011b\u017ek\u00e9ho posti\u017een\u00ed,\u201c p\u0159ipom\u00edn\u00e1 jeho asistent.<\/p>\n\n\n\n
Beze slov, ale s porozum\u011bn\u00edm<\/p>\n\n\n\n
Situaci nezjednodu\u0161uje ani M\u00ed\u0161ova porucha autistick\u00e9ho spektra. Autismus u n\u011bj znamen\u00e1 hlubokou pot\u0159ebu bezpe\u010d\u00ed a st\u00e1losti. Stejn\u00fd re\u017eim, stejn\u00e9 ritu\u00e1ly, stejn\u00e9 cesty. Jak\u00e1koli zm\u011bna u n\u011bj m\u016f\u017ee vyvolat neklid, kter\u00fd neum\u00ed vyj\u00e1d\u0159it slovy, ale projevuje jej cel\u00fdm t\u011blem.<\/p>\n\n\n\n
M\u00ed\u0161a toti\u017e nemluv\u00ed. Se sv\u011btem komunikuje jinak \u2013 pohledem, dotykem, zm\u011bnou dechu, sm\u00edchem, pohybem ruky. Nau\u010dit se mu rozum\u011bt je proces, kter\u00fd nikdy \u00fapln\u011b nekon\u010d\u00ed. \u201eKa\u017ed\u00fd den se to u\u010d\u00edm znovu,\u201c konstatuje Ivan Prchal.<\/p>\n\n\n\n
P\u00e9\u010de o M\u00ed\u0161u tedy neznamen\u00e1 jen zabezpe\u010dit jeho materi\u00e1ln\u00ed a hygienick\u00e9 pot\u0159eby. \u201eM\u00fdm \u00fakolem je b\u00fdt jeho kotvou. Udr\u017eet jeho klid, zpomalit sv\u011bt kolem n\u011bj a b\u00fdt p\u0159ipraven\u00fd ve vte\u0159in\u011b zas\u00e1hnout,\u201c vysv\u011btluje asistent.<\/p>\n\n\n\n
Jednou z nejv\u011bt\u0161\u00edch M\u00ed\u0161ov\u00fdch radost\u00ed je j\u00edzda autem. Miluje ji. Pohled z okna, plynul\u00fd pohyb, monot\u00f3nn\u00ed zvuk motoru \u2013 to v\u0161e ho viditeln\u011b uklid\u0148uje. Jde o chv\u00edle, kdy je uvoln\u011bn\u011bj\u0161\u00ed, p\u0159\u00edtomn\u011bj\u0161\u00ed, snad i \u0161\u0165astn\u011bj\u0161\u00ed. Tak\u00e9 proch\u00e1zky venku a sledov\u00e1n\u00ed okol\u00ed m\u00e1 M\u00ed\u0161a r\u00e1d.<\/p>\n\n\n\n
\u201eTyto okam\u017eiky mi p\u0159ipom\u00ednaj\u00ed, \u017ee i velmi omezen\u00fd sv\u011bt m\u016f\u017ee b\u00fdt pln\u00fd pro\u017eitk\u016f,\u201c \u0159\u00edk\u00e1 Ivan Prchal.<\/p>\n\n\n\n
Nejsiln\u011bj\u0161\u00ed moment jeho pr\u00e1ce pr\u00fd p\u0159i\u0161el zcela ne\u010dekan\u011b. Jednou ho M\u00ed\u0161a s\u00e1m, z vlastn\u00ed iniciativy, jemn\u011b pohladil po vlasech. Nebyla to n\u00e1hoda, nebyl to reflex. Byl to v\u011bdom\u00fd dotek.<\/p>\n\n\n\n
Pro jeho pe\u010dovatele se v tu chv\u00edli zastavil \u010das. \u201eUv\u011bdomil jsem si, \u017ee i kdy\u017e nemluv\u00ed a my jeho sv\u011btu tak \u00fapln\u011b nerozum\u00edme, vztah existuje. A je skute\u010dn\u00fd,\u201c usm\u00edv\u00e1 se Ivan Prchal.<\/p>\n\n\n\n
Syndrom Dravetov\u00e9 je celo\u017eivotn\u00ed diagn\u00f3za. Pro M\u00ed\u0161u, pro jeho bl\u00edzk\u00e9 i pro ty, kdo ho doprov\u00e1zej\u00ed. \u201eJ\u00e1 jsem jedn\u00edm z nich. A ten jeden dotek mi bude p\u0159ipom\u00ednat, pro\u010d m\u00e1 tato pr\u00e1ce smysl,\u201c podotkl Ivan Prchal.<\/p>\n\n\n\n
Sb\u00edrka pom\u016f\u017ee zajistit M\u00ed\u0161ovi bezpe\u010dn\u011bj\u0161\u00ed a d\u016fstojn\u011bj\u0161\u00ed \u017eivot<\/p>\n\n\n\n
P\u00e9\u010de o dosp\u011bl\u00e9ho \u010dlov\u011bka se syndromem Dravetov\u00e9 je dlouhodob\u00e1, fyzicky i psychicky n\u00e1ro\u010dn\u00e1 pr\u00e1ce a syst\u00e9mov\u00e1 podpora \u010dasto nesta\u010d\u00ed. Proto Ivan Prchal zalo\u017eil sb\u00edrku na platform\u011b Donio. Jej\u00edm c\u00edlem je pomoci zajistit M\u00ed\u0161ovi bezpe\u010dn\u011bj\u0161\u00ed, d\u016fstojn\u011bj\u0161\u00ed a klidn\u011bj\u0161\u00ed \u017eivot.<\/p>\n\n\n\n
V\u00fdnos ze sb\u00edrky pom\u016f\u017ee financovat pot\u0159ebn\u00e9 kompenza\u010dn\u00ed pom\u016fcky, p\u00e9\u010di a z\u00e1zem\u00ed, kter\u00e9 M\u00ed\u0161ovi umo\u017en\u00ed fungovat s men\u0161\u00edm rizikem a v\u011bt\u0161\u00edm klidem.<\/p>\n\n\n\n
Pokud v\u00e1s M\u00ed\u0161\u016fv p\u0159\u00edb\u011bh oslovil a chcete mu pomoci, sb\u00edrku najdete na platform\u011b Donio a na Facebooku. Podle jeho asistenta, kter\u00fd ji zalo\u017eil, m\u00e1 ka\u017ed\u00e1 podpora smysl.<\/p>\n\n\n\n
\u201ePr\u00e1ce s M\u00ed\u0161ou m\u011b nau\u010dila poko\u0159e. Nau\u010dila m\u011b vn\u00edmat hodnotu ticha, doteku a p\u0159\u00edtomnosti. P\u0159ipomn\u011bla mi, \u017ee d\u016fstojnost \u010dlov\u011bka nespo\u010d\u00edv\u00e1 v tom, co dok\u00e1\u017ee, ale v tom, \u017ee je,\u201c \u0159\u00edk\u00e1 Ivan Prchal.<\/p>\n\n\n\n
Tato genetick\u00e1 mutace krom\u011b z\u00e1chvat\u016f znemo\u017e\u0148uje i rozvoj mozku pacient\u016f. Pokud d\u00edt\u011b \u010dasto trp\u00ed t\u011b\u017ek\u00fdmi a dlouh\u00fdmi z\u00e1chvaty, jeho ment\u00e1ln\u00ed v\u00fdvoj se m\u016f\u017ee zpomalit je\u0161t\u011b v\u00edce.<\/p>\n\n\n\n
T\u011b\u017ekou myoklonickou epilepsii u d\u011bt\u00ed v roce 1978 poprv\u00e9 popsala profesorka d\u011btsk\u00e9 neurologie Charlotte Dravetov\u00e1 z Centre Saint Paul ve francouzsk\u00e9m Marseille. N\u00e1zev nemoci byl v roce 1989 zm\u011bn\u011bn na syndrom Dravetov\u00e9.<\/p>\n\n\n\n
Z\u00e1chvaty u syndromu Dravetov\u00e9 je obt\u00ed\u017en\u00e9 zvl\u00e1dnout, ale mohou b\u00fdt zm\u00edrn\u011bny antikonvulzivn\u00edmi l\u00e9ky. Dokud se neobjev\u00ed lep\u0161\u00ed l\u00e9\u010dba, budou m\u00edt lid\u00e9 s t\u00edmto onemocn\u011bn\u00edm myoklonickou epilepsii do konce \u017eivota.<\/p>\n\n\n\n
V budoucnu by mohla b\u00fdt pro nemocn\u00e9 k dispozici genov\u00e1 terapie, podle expert\u016f je v\u0161ak zat\u00edm pouze ve f\u00e1zi v\u00fdvoje.<\/p>\n\n\n\n
Ivana Vitovsk\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":" M\u00ed\u0161ovi je jednat\u0159icet let. \u017dije se syndromem Dravetov\u00e9, m\u00e1 t\u011b\u017ek\u00e9 ment\u00e1ln\u00ed posti\u017een\u00ed a poruchu autistick\u00e9ho spektra. M\u016f\u017ee kdykoliv dostat epileptick\u00fd z\u00e1chvat a je odk\u00e1z\u00e1n na […]<\/a><\/p>\n<\/div>","protected":false},"author":1,"featured_media":14228,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[9],"tags":[],"class_list":["post-62985","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\/62985","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=62985"}],"version-history":[{"count":0,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts\/62985\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/media\/14228"}],"wp:attachment":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=62985"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=62985"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=62985"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}