Chlapec z He\u0159manovy Huti na Plze\u0148sku, kter\u00fd po\u010d\u00e1tkem \u010dervna oslavil prvn\u00ed narozeniny, se pot\u00fdk\u00e1 se vz\u00e1cn\u00fdm genetick\u00fdm onemocn\u011bn\u00edm. T\u00edm z\u0159ejm\u011b trp\u00ed jako jedin\u00fd v \u010cesku. V\u00e1\u017en\u00fdm zdravotn\u00edm komplikac\u00edm \u010del\u00ed Ji\u0159\u00edk u\u017e od sv\u00e9ho narozen\u00ed, genetick\u00e1 porucha ovliv\u0148uje jeho v\u00fdvoj i ka\u017edodenn\u00ed \u017eivot cel\u00e9 rodiny.<\/p>\n\n\n\n
\u201eM\u00e9 t\u011bhotenstv\u00ed bylo bez komplikac\u00ed, ale p\u0159i porodu Ji\u0159\u00edk vdechl plodovou vodu a m\u011bl pot\u00ed\u017ee s d\u00fdch\u00e1n\u00edm,\u201c vzpom\u00edn\u00e1 pan\u00ed Lada. \u201ePo porodu ho odvezli na novorozeneckou jednotku intenzivn\u00ed a resuscita\u010dn\u00ed p\u00e9\u010de, kde ho p\u0159ipojili na kysl\u00edk, dostal v\u00fd\u017eivu p\u0159\u00edmo do \u017ealudku a antibiotika. Z\u00e1rove\u0148 mu d\u011blali v\u0161elijak\u00e1 vy\u0161et\u0159en\u00ed. A takto str\u00e1vil prvn\u00ed t\u00fddny \u017eivota,\u201c vypr\u00e1v\u00ed.<\/p>\n\n\n\n
Kr\u00e1tce po propu\u0161t\u011bn\u00ed dom\u016f se chlapc\u016fv stav zhor\u0161il, proto n\u00e1sledovala dal\u0161\u00ed hospitalizace, tentokr\u00e1t na D\u011btsk\u00e9 klinice v Plzni, kde do\u0161lo k respira\u010dn\u00edmu selh\u00e1n\u00ed. N\u00e1sledn\u011b jej uvedli do um\u011bl\u00e9ho sp\u00e1nku a p\u0159ipojili na plicn\u00ed ventilaci.<\/p>\n\n\n\n
Po p\u00e1r dnech, kdy nedo\u0161lo ke zlep\u0161en\u00ed zdravotn\u00edho stavu, byl Ji\u0159\u00edk p\u0159evezen do Fakultn\u00ed nemocnice Motol v Praze, kde mu zavedli tracheostomii na d\u00fdch\u00e1n\u00ed a sondu do \u017ealudku. V n\u00e1sleduj\u00edc\u00edch m\u011bs\u00edc\u00edch se objevily dal\u0161\u00ed komplikace.<\/p>\n\n\n\n
\u201e\u010casem se p\u0159idaly epileptick\u00e9 z\u00e1chvaty a v jednu dobu \u010dast\u00e9 hypoglyk\u00e9mie (pokles krevn\u00edho cukru, pozn. red.). Na z\u00e1klad\u011b genetick\u00fdch vy\u0161et\u0159en\u00ed jsme se po t\u0159i \u010dtvrt\u011b roce dozv\u011bd\u011bli, \u017ee Ji\u0159\u00edk trp\u00ed vz\u00e1cnou mikrodele\u010dn\u00ed poruchou na chromozomu 5, co\u017e zp\u016fsobilo ztr\u00e1tu 27 gen\u016f,\u201c vysv\u011btluje chlapc\u016fv otec Martin.<\/p>\n\n\n\n
Jedn\u00edm ze zasa\u017een\u00fdch gen\u016f je MEF2C, jeho\u017e po\u0161kozen\u00ed zp\u016fsobuje intelektu\u00e1ln\u00ed posti\u017een\u00ed, celkov\u00e9 opo\u017ed\u011bn\u00ed v\u00fdvoje, pot\u00ed\u017ee s \u0159e\u010d\u00ed a n\u00edzk\u00fd svalov\u00fd tonus. \u201eSynovo onemocn\u011bn\u00ed je nel\u00e9\u010diteln\u00e9 a jeho progn\u00f3zu n\u00e1m l\u00e9ka\u0159i nejsou schopni \u0159\u00edct. J\u00e1 s man\u017eelem i n\u00e1\u0161 druh\u00fd syn Mat\u011bj jsme zdrav\u00ed, tak\u017ee tato genetick\u00e1 porucha u Ji\u0159\u00edka vznikla takzvan\u011b de novo, tedy \u00fapln\u011b nov\u011b,\u201c dod\u00e1v\u00e1 pan\u00ed Lada.<\/p>\n\n\n\n
Onemocn\u011bn\u00ed je velmi vz\u00e1cn\u00e9 a pot\u00fdk\u00e1 se s n\u00edm jen p\u00e1r des\u00edtek lid\u00ed na sv\u011bt\u011b. \u201eKdy\u017e jsem p\u00e1trala po dal\u0161\u00edch informac\u00edch, nena\u0161la jsem v \u010cesku nikoho dal\u0161\u00edho, kdo by j\u00edm trp\u011bl,\u201c konstatuje chlapcova matka.<\/p>\n\n\n\n
\u010cty\u0159iadvacetihodinov\u00e1 p\u00e9\u010de<\/p>\n\n\n\n
N\u00e1ro\u010dn\u00e1 p\u00e9\u010de o Ji\u0159\u00edka klade na rodinu velk\u00e9 n\u00e1roky. Pan Martin pracuje jako \u0159idi\u010d tramvaje, pan\u00ed Lada je na rodi\u010dovsk\u00e9 dovolen\u00e9 a star\u00e1 se tak\u00e9 o t\u0159\u00edlet\u00e9ho Mat\u011bje, kter\u00fd m\u00e1 k mlad\u0161\u00edmu br\u00e1\u0161kovi velmi dobr\u00fd vztah. \u201eMat\u00fdsek o n\u011bm po\u0159\u00e1d mluv\u00ed a dr\u017e\u00ed ho za ru\u010di\u010dku, i kdy\u017e Ji\u0159\u00edk mnoho v\u011bc\u00ed nevn\u00edm\u00e1,\u201c popisuje \u017eena.<\/p>\n\n\n\n
Aktu\u00e1ln\u011b se Ji\u0159\u00edk zotavuje z t\u011b\u017ek\u00fdch m\u011bs\u00edc\u016f, kdy byl op\u011bt v ohro\u017een\u00ed \u017eivota kv\u016fli oboustrann\u00e9mu z\u00e1palu plic. Na\u0161t\u011bst\u00ed se mu ale v\u0161e poda\u0159ilo p\u0159ekonat a nyn\u00ed je chlapec, jeho\u017e nejobl\u00edben\u011bj\u0161\u00ed hra\u010dkou je beru\u0161ka, stabilizovan\u00fd. S rodinou je doma a nov\u011b je p\u0159ipojen na dom\u00e1c\u00ed plicn\u00ed ventilaci. Jeho l\u00e9\u010dba je nyn\u00ed zam\u011b\u0159en\u00e1 na zlep\u0161en\u00ed d\u00fdch\u00e1n\u00ed, zm\u00edrn\u011bn\u00ed intenzity a po\u010dtu epileptick\u00fdch z\u00e1chvat\u016f a maximalizaci mo\u017enost\u00ed pohybu.<\/p>\n\n\n\n
\u201eNejt\u011b\u017e\u0161\u00ed pro n\u00e1s je, \u017ee se nem\u016f\u017eeme Mat\u00fdskovi v\u011bnovat tak, jak bychom cht\u011bli, proto\u017ee Ji\u0159\u00edk pot\u0159ebuje 24hodinovou p\u00e9\u010di. Kv\u016fli Ji\u0159\u00edkov\u011b stavu je slo\u017eit\u00e9 t\u0159eba jen tak vyrazit ven na proch\u00e1zku, kdy\u017e je tat\u00ednek v pr\u00e1ci,\u201c p\u0159izn\u00e1v\u00e1 pan\u00ed Lada.<\/p>\n\n\n\n
Pomoc Dobr\u00fdch and\u011bl\u016f<\/p>\n\n\n\n
Z d\u016fvodu n\u00e1ro\u010dn\u00e9 p\u00e9\u010de za\u010dali rodin\u011b Ji\u0159\u00edka pom\u00e1hat i Dob\u0159\u00ed and\u011bl\u00e9 prost\u0159ednictv\u00edm nadace Dobr\u00fd and\u011bl. \u201eJsme moc r\u00e1di, \u017ee s pomoc\u00ed l\u00e9ka\u0159\u016f, sester, ran\u00e9 p\u00e9\u010de, d\u011btsk\u00e9ho centra, rodiny a tak\u00e9 Dobr\u00fdch and\u011bl\u016f m\u016f\u017ee b\u00fdt Ji\u0159\u00ed\u010dek s n\u00e1mi doma,\u201c \u0159\u00edk\u00e1 chlapcova matka a uzav\u00edr\u00e1: \u201eZa p\u0159\u00edsp\u011bvky od Dobr\u00fdch and\u011bl\u016f jsme moc vd\u011b\u010dn\u00ed. Pom\u00e1haj\u00ed n\u00e1m hradit doplatky na l\u00e9ky, kupujeme za n\u011b pom\u016fcky, hrad\u00edme rehabilitace a celkov\u011b n\u00e1m pom\u00e1haj\u00ed zvl\u00e1dnout na\u0161i t\u011b\u017ekou situaci.\u201c<\/p>\n\n\n\n
Milan Kili\u00e1n<\/p>\n\n\n\n
Den\u00edk.cz<\/p>\n\n\n\n
https:\/\/www.denik.cz<\/a><\/p>\n","protected":false},"excerpt":{"rendered":" Chlapec z He\u0159manovy Huti na Plze\u0148sku, kter\u00fd po\u010d\u00e1tkem \u010dervna oslavil prvn\u00ed narozeniny, se pot\u00fdk\u00e1 se vz\u00e1cn\u00fdm genetick\u00fdm onemocn\u011bn\u00edm. T\u00edm z\u0159ejm\u011b trp\u00ed jako jedin\u00fd v \u010cesku. […]<\/a><\/p>\n<\/div>","protected":false},"author":1,"featured_media":14373,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[9],"tags":[],"class_list":["post-58410","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\/58410","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=58410"}],"version-history":[{"count":0,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts\/58410\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/media\/14373"}],"wp:attachment":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=58410"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=58410"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=58410"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}