Adam je jedn\u00edm z d\u011bt\u00ed, kter\u00e9 \u010del\u00ed takzvan\u00fdm vz\u00e1cn\u00fdm onemocn\u011bn\u00edm, kter\u00e1 jsou p\u0159ev\u00e1\u017en\u011b vrozen\u00e1 a nel\u00e9\u010diteln\u00e1. Pomoc miluj\u00edc\u00ed rodi\u010de hledaj\u00ed i v tradi\u010dn\u00ed \u010d\u00ednsk\u00e9 medic\u00edn\u011b. Sd\u00edlej\u00ed pot\u0159ebn\u00e9 zku\u0161enosti i to, co pro\u017e\u00edvaj\u00ed.<\/p>\n\n\n\n
T\u00e9m\u011b\u0159 t\u0159in\u00e1ctilet\u00fd Adam je chytr\u00fd a \u0161ikovn\u00fd kluk. Zaj\u00edm\u00e1 se o spoustu v\u011bc\u00ed, bav\u00ed ho pozn\u00e1vat a cestovat. Na rozd\u00edl od sv\u00fdch vrstevn\u00edk\u016f to m\u00e1 mnohem t\u011b\u017e\u0161\u00ed. Kv\u016fli sv\u00e9 diagn\u00f3ze nen\u00ed schopen ch\u016fze.<\/p>\n\n\n\n
\u201eJsou dny, kdy se srovn\u00e1v\u00e1 se sv\u00fdmi vrstevn\u00edky a pak je smutn\u00fd,\u201c \u0159ekla redakci maminka Kl\u00e1ra. Miluje toti\u017e spole\u010dnost a kamar\u00e1dy.<\/p>\n\n\n\n
Kdy\u017e mu byl rok, byla mu diagnostikov\u00e1na merosin kongenit\u00e1ln\u00ed svalov\u00e1 dystrofie projevuj\u00edc\u00ed se omezenou hybnost\u00ed sval\u016f a ztuhlost\u00ed kloub\u016f. Zpravidla se zhor\u0161uje, vede i k d\u00fdchac\u00edm pot\u00ed\u017e\u00edm. N\u011bkter\u00e9 d\u011bti se na nohy nikdy nepostav\u00ed, jin\u00e9 se nau\u010d\u00ed chodit v pozd\u011bj\u0161\u00edm v\u011bku. Dal\u0161\u00edm pom\u00e1haj\u00ed ort\u00e9zy. A Adam?<\/p>\n\n\n\n
Je to kr\u00e1sn\u00fd, zdrav\u00fd kluk, \u0159ekli rodi\u010d\u016fm v porodnici<\/p>\n\n\n\n
P\u0159\u00edb\u011bh Adama za\u010d\u00edn\u00e1 v roce 2013. P\u0159i\u0161el na sv\u011bt s b\u011b\u017enou porodn\u00ed v\u00e1hou.<\/p>\n\n\n\n
\u201eDle l\u00e9ka\u0159\u016f bylo v\u0161e ok. Kdy\u017e to zp\u011btn\u011b porovn\u00e1me s mlad\u0161\u00edmi sourozenci, bylo patrn\u00e9, \u017ee n\u011bco bylo jinak,\u201c vzpom\u00edn\u00e1 maminka.<\/p>\n\n\n\n
Adam necht\u011bl s\u00e1t mate\u0159sk\u00e9 ml\u00e9ko, nep\u0159ib\u00fdval na v\u00e1ze a na p\u00e1r dn\u016f skon\u010dil kv\u016fli n\u00edzk\u00e9 hladin\u011b cukru a \u0161patn\u00fdm jatern\u00edm test\u016fm na JIPce.<\/p>\n\n\n\n
\u201eByli jsme tehdy nezku\u0161en\u00ed. Ale nezd\u00e1lo se n\u00e1m, \u017ee by to bylo n\u011bco neobvykl\u00e9ho,\u201c popisuje pan\u00ed Kl\u00e1ra prvn\u00ed dny s novoroze\u0148\u00e1tkem. To je\u0161t\u011b rodi\u010de netu\u0161ili, \u017ee m\u00e1 takzvanou vz\u00e1cnou nemoc.<\/p>\n\n\n\n
Opo\u017ed\u011bn\u00fd v\u00fdvoj a diagn\u00f3za<\/p>\n\n\n\n
\u201eNezvedal hlavi\u010dku, nep\u00e1sl kon\u00edky, neot\u00e1\u010del se na bok\u2026,\u201c popisuj\u00ed rodi\u010de chv\u00edle, jak se jim jeho v\u00fdvoj za\u010dal zd\u00e1t opo\u017ed\u011bn\u00fd. Dle pediatra to byl jen \u201etypicky l\u00ednej chlap.\u201c<\/p>\n\n\n\n
A\u017e zm\u011bna l\u00e9ka\u0159e je dovedla na neurologii. Po dlouh\u00fdch dev\u00edti m\u011bs\u00edc\u00edch \u010dek\u00e1n\u00ed se dozv\u011bd\u011bli, \u017ee ho \u010dek\u00e1 \u017eivot na voz\u00edku.<\/p>\n\n\n\n
Nepop\u00edraj\u00ed, \u017ee to byl \u0161ok, ale pochopili, \u017ee kl\u00e1st si ot\u00e1zky \u201epro\u010d zrovna my\u201c nem\u00e1 smysl. T\u00edm by mu nepomohli. Za\u010dali o t\u00e9to nemoci hledat informace, zji\u0161\u0165ovat, co d\u00e1l. Zjistili, \u017ee na Morav\u011b \u017eije s touto diagn\u00f3zou dosp\u011bl\u00e1 sle\u010dna Ane\u017eka, na Slovensku hol\u010di\u010dka v Adamov\u011b v\u011bku.<\/p>\n\n\n\n
\u201eMohli jsme si p\u0159edat spoustu informac\u00ed a hlavn\u011b zku\u0161enost\u00ed. Ten pocit, \u017ee si m\u016f\u017eeme promluvit s n\u011bk\u00fdm, kdo pro\u017e\u00edv\u00e1 to sam\u00e9, byl \u00fa\u017easn\u00fd,\u201c oce\u0148uj\u00ed rodi\u010de, \u017ee se s nimi spojili.<\/p>\n\n\n\n
Kdy\u017e nen\u00ed l\u00e9k, zkou\u0161\u00ed se i alternativn\u00ed medic\u00edna<\/p>\n\n\n\n
Man\u017eel\u00e9 Hrd\u00ed v\u011bd\u00ed, \u017ee l\u00e9k na tuto diagn\u00f3zu zat\u00edm nen\u00ed. Vyzkou\u0161eli i tradi\u010dn\u00ed \u010d\u00ednskou medic\u00ednu. Zjistili, \u017ee mu alespo\u0148 na imunitu pom\u00e1h\u00e1 akupunktura a bylinky. Ale je jasn\u00e9, \u017ee se bez \u201ez\u00e1padn\u00ed\u201c l\u00e9\u010dby Adam neobejde.<\/p>\n\n\n\n
\u201eJednou t\u00fddn\u011b k n\u00e1m jezd\u00ed fyzioterapeutka. Ka\u017ed\u00fd m\u011bs\u00edc m\u00e1 t\u00fddenn\u00ed cvi\u010den\u00ed v Astra klinice. Pom\u00e1haj\u00ed mu hipoterapie,\u201c nasti\u0148uj\u00ed rodi\u010de p\u00e9\u010di o syna. V noci pot\u0159ebuje polohov\u00e1n\u00ed a podporu d\u00fdch\u00e1n\u00ed NIV, co\u017e je neinvazivn\u00ed plicn\u00ed ventilace.<\/p>\n\n\n\n
Celodenn\u00ed p\u00e9\u010de zahrnuje pomoc i v t\u011bch nejoby\u010dejn\u011bj\u0161\u00edch v\u011bcech. Kompenza\u010dn\u00ed pom\u016fcky, jako zdravotn\u00ed \u017eidle, ort\u00e9zy, korzet kv\u016fli skoli\u00f3ze jsou nezbytn\u00e9. Ty jsou zpravidla drah\u00e9 a v\u011bt\u0161inou nejsou na seznamu \u00fahrad poji\u0161\u0165oven. Ty nehrad\u00ed t\u011bmto pacient\u016fm ani n\u00e1kladn\u00e9 rehabilitace a fyzioterapie.<\/p>\n\n\n\n
\u201eP\u00e9\u010de je n\u011bkdy opravdu n\u00e1ro\u010dn\u00e1. Je t\u011b\u017ek\u00e9 si to p\u0159edstavit, pokud to neza\u017eijete. Jak d\u00edt\u011b vyr\u016fst\u00e1, zji\u0161\u0165ujete, co v\u0161e pot\u0159ebuje a leckdy mus\u00edte dokazovat, \u017ee handicap va\u0161eho d\u00edt\u011bte je dostate\u010dn\u00fd, a vy m\u016f\u017eete \u010derpat podporu od st\u00e1tu,\u201c sv\u011b\u0159uj\u00ed se rodi\u010de.<\/p>\n\n\n\n
\u201eV podstat\u011b neust\u00e1le hled\u00e1te finan\u010dn\u00ed podporu, abyste mu mohli dop\u0159\u00e1t alespo\u0148 trochu d\u016fstojn\u00fd \u017eivot,\u201c doplnili.<\/p>\n\n\n\n
Jak Adama podpo\u0159it a co v\u0161e pot\u0159ebuje, se do\u010dtete na jeho webov\u00fdch str\u00e1nk\u00e1ch, o jeho aktu\u00e1ln\u00edm stavu informuj\u00ed rodi\u010de na Facebooku.<\/p>\n\n\n\n
Vz\u00e1cn\u00e1 onemocn\u011bn\u00ed<\/p>\n\n\n\n
Vz\u00e1cn\u00fdch onemocn\u011bn\u00ed je pops\u00e1no \u0161est a\u017e osm tis\u00edc r\u016fzn\u00fdch diagn\u00f3z. A\u017e 72 procent m\u00e1 genetick\u00fd p\u016fvod, 70 procent se projev\u00ed v d\u011btstv\u00ed. U n\u00e1s jimi trp\u00ed zhruba p\u016fl milionu pacient\u016f.<\/p>\n\n\n\n
Stanoven\u00ed diagn\u00f3zy trv\u00e1 m\u011bs\u00edce a\u017e roky, v pr\u016fm\u011bru p\u011bt let, \u010dasto chyb\u00ed pot\u0159ebn\u00e9 informace o samotn\u00e9 nemoci a mo\u017enostech l\u00e9\u010dby. Je m\u00e1lo specializovan\u00fdch l\u00e9ka\u0159\u016f, kte\u0159\u00ed jednotliv\u00e9 diagn\u00f3zy znaj\u00ed a v\u011bd\u00ed, jak pacient\u016fm pom\u00e1hat.<\/p>\n\n\n\n
Pacienti a jejich rodiny \u010dasto \u017eij\u00ed v nejistot\u011b, nar\u00e1\u017eej\u00ed na nepochopen\u00ed, soci\u00e1ln\u00ed podpora nen\u00ed p\u0159izp\u016fsoben\u00e1 jejich pot\u0159eb\u00e1m.<\/p>\n\n\n\n
Den vz\u00e1cn\u00fdch onemocn\u011bn\u00ed postihuj\u00edc\u00ed m\u00e9n\u011b ne\u017e 5 lid\u00ed z 10 tis\u00edc se p\u0159ipom\u00edn\u00e1 koncem \u00fanora, aby se zv\u00fd\u0161ilo pov\u011bdom\u00ed o vz\u00e1cn\u00fdch diagn\u00f3z\u00e1ch.<\/p>\n\n\n\n
Kongenit\u00e1ln\u00ed svalov\u00e1 dystrofie<\/p>\n\n\n\n
Kongenit\u00e1ln\u00ed svalov\u00e1 dystrofie s deficitem lamininu (MDC1A, Merosin deficientn\u00ed CMD) je zn\u00e1ma rovn\u011b\u017e jako CMD s mutac\u00ed genu Laminin A2 (LAMA2). D\u011bti s t\u00edmto typem CMD se rod\u00ed se svalovou slabost\u00ed a hypotoni\u00ed (sn\u00ed\u017een\u00fdm nap\u011bt\u00edm ve svalech). Objevuj\u00ed se u nich \u010dasn\u00e9 probl\u00e9my s d\u00fdch\u00e1n\u00edm a polyk\u00e1n\u00edm a doch\u00e1z\u00ed k progresivn\u00edmu v\u00fdvoji kontraktur.<\/p>\n\n\n\n
Lenka Vel\u00ednsk\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":" Adam je jedn\u00edm z d\u011bt\u00ed, kter\u00e9 \u010del\u00ed takzvan\u00fdm vz\u00e1cn\u00fdm onemocn\u011bn\u00edm, kter\u00e1 jsou p\u0159ev\u00e1\u017en\u011b vrozen\u00e1 a nel\u00e9\u010diteln\u00e1. Pomoc miluj\u00edc\u00ed rodi\u010de hledaj\u00ed i v tradi\u010dn\u00ed \u010d\u00ednsk\u00e9 medic\u00edn\u011b. […]<\/a><\/p>\n<\/div>","protected":false},"author":1,"featured_media":10607,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[9],"tags":[],"class_list":["post-63851","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\/63851","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=63851"}],"version-history":[{"count":0,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts\/63851\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/media\/10607"}],"wp:attachment":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=63851"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=63851"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=63851"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}