{"id":25693,"date":"2016-06-04T14:16:03","date_gmt":"2016-06-04T12:16:03","guid":{"rendered":"http:\/\/www.invarena.cz\/?p=25693"},"modified":"2016-06-04T14:16:03","modified_gmt":"2016-06-04T12:16:03","slug":"vzacni-nemocni-mezi-nami","status":"publish","type":"post","link":"https:\/\/www.invarena.cz\/?p=25693","title":{"rendered":"Vz\u00e1cn\u00ed nemocn\u00ed mezi n\u00e1mi"},"content":{"rendered":"

T\u011bmto onemocn\u011bn\u00edm se \u0159\u00edk\u00e1 vz\u00e1cn\u00e1. Jen\u017ee je jich tolik druh\u016f, \u017ee jen v \u010cesku \u017eije asi 600 a\u017e 800 tis\u00edc lid\u00ed, kte\u0159\u00ed jimi trp\u00ed. Na spr\u00e1vnou diagn\u00f3zu \u010dekaj\u00ed i n\u011bkolik let a n\u011bkte\u0159\u00ed ji st\u00e1le nemaj\u00ed. Pomoci jim mohou i pacientsk\u00e9 organizace.<\/strong><\/p>\n

Zdravotn\u00ed probl\u00e9my na nich mohou b\u00fdt vid\u011bt na prvn\u00ed pohled, ale stejn\u011b tak mohou b\u00fdt \u00fapln\u011b nen\u00e1padn\u00ed a nikdo by nepoznal, \u017ee bojuj\u00ed se z\u00e1va\u017enou chorobou. \u0158e\u010d je pacientech, kte\u0159\u00ed trp\u00ed vz\u00e1cn\u00fdmi onemocn\u011bn\u00edmi. Sou\u010dasn\u00e1 medic\u00edna zn\u00e1 asi 6 a\u017e 8 tis\u00edc r\u016fzn\u00fdch raritn\u00edch chorob, ale pravd\u011bpodobn\u011b jich existuje je\u0161t\u011b v\u00edce.
\nI kdy\u017e se navz\u00e1jem li\u0161\u00ed ve sv\u00fdch projevech, maj\u00ed n\u011bco spole\u010dn\u00e9ho. Vyskytuj\u00ed se vz\u00e1cn\u011b, u m\u00e9n\u011b ne\u017e 5 lid\u00ed z 10 tis\u00edc, a pr\u00e1v\u011b proto je velmi obt\u00ed\u017en\u00e1 jejich diagnostika. \u010casto trv\u00e1 i n\u011bkolik let, ne\u017e se nemocn\u00ed kone\u010dn\u011b dozv\u011bd\u00ed spr\u00e1vnou diagn\u00f3zu. Mezit\u00edm jsou l\u00e9\u010deni \u0161patn\u011b, nebo dokonce v\u016fbec.<\/p>\n

M\u00e1lo znalost\u00ed<\/p>\n

„O vz\u00e1cn\u00fdch onemocn\u011bn\u00edch se v\u011bt\u0161inou m\u00e1lo v\u00ed, m\u00e1lokdo je um\u00ed rozpozn\u00e1vat a l\u00e9\u010dit. A na naprostou v\u011bt\u0161inu z nich nen\u00ed l\u00e9k. P\u0159itom jde o onemocn\u011bn\u00ed v\u00e1\u017en\u00e1, kter\u00e1 v\u00fdrazn\u011b postihuj\u00ed kvalitu i d\u00e9lku \u017eivota,“ vysv\u011btluje Anna Arellanesov\u00e1, p\u0159edsedkyn\u011b \u010cesk\u00e9 asociace pro vz\u00e1cn\u00e1 onemocn\u011bn\u00ed. Ta sdru\u017euje pacientsk\u00e9 organizace, kter\u00e9 se v\u011bnuj\u00ed nemocn\u00fdm se vz\u00e1cn\u00fdmi chorobami a jejich bl\u00edzk\u00fdm a tak\u00e9 se zam\u011b\u0159uje na zvy\u0161ov\u00e1n\u00ed pov\u011bdom\u00ed o t\u011bchto onemocn\u011bn\u00edch. Podle n\u00ed by ve\u0159ejnost m\u011bla hlavn\u011b v\u011bd\u011bt, \u017ee vz\u00e1cn\u00e1 onemocn\u011bn\u00ed existuj\u00ed a mezi n\u00e1mi \u017eij\u00ed lid\u00e9, kte\u0159\u00ed jimi trp\u00ed. „Nejr\u016fzn\u011bj\u0161\u00ed posti\u017een\u00ed a omezen\u00ed, kter\u00e1 se s t\u011bmito chorobami poj\u00ed, by nem\u011bla vzbuzovat strach ani vyvol\u00e1vat opovr\u017een\u00ed, jak se to \u010dasto s nezn\u00e1m\u00fdmi v\u011bcmi d\u011bje,“ dod\u00e1v\u00e1.
\nPr\u00e1v\u011b asociace pro vz\u00e1cn\u00e1 onemocn\u011bn\u00ed prov\u00e1d\u00ed v\u00fdzkum zam\u011b\u0159en\u00fd na znalosti ve\u0159ejnosti o t\u011bchto chorob\u00e1ch. Ukazuje se, \u017ee v\u011bt\u0161ina dot\u00e1zan\u00fdch lid\u00ed p\u0159edpokl\u00e1d\u00e1, \u017ee nemocn\u00fdch je velmi m\u00e1lo. A neuv\u011bdomuje si, \u017ee a\u010dkoliv jednou konkr\u00e9tn\u00ed vz\u00e1cnou nemoc\u00ed trp\u00ed des\u00edtky, maxim\u00e1ln\u011b stovky lid\u00ed v \u010cesku, celkem v\u0161echny tyto choroby postihuj\u00ed zhruba 600 a\u017e 800 tis\u00edc \u010cech\u016f a to rozhodn\u011b nen\u00ed zanedbateln\u00fd po\u010det. Podle \u00fadaj\u016f Evropsk\u00e9 pacientsk\u00e9 organizace pro vz\u00e1cn\u00e1 onemocn\u011bn\u00ed (EURORDIS) \u017eije v Evrop\u011b v\u00edce ne\u017e 30 milion\u016f osob se vz\u00e1cn\u00fdmi onemocn\u011bn\u00edmi, kte\u0159\u00ed jsou \u010dasto „neviditeln\u00ed“. P\u0159itom nejsou jen \u010d\u00edsla ve zdravotnick\u00fdch statistik\u00e1ch, ale konkr\u00e9tn\u00edmi lidmi s konkr\u00e9tn\u00edmi \u017eivotn\u00edmi osudy.<\/p>\n

Dlouh\u00e1 cesta k diagn\u00f3ze<\/p>\n

Ne n\u00e1hodou b\u00fdvaj\u00ed vz\u00e1cn\u00e1 onemocn\u011bn\u00ed v angli\u010dtin\u011b n\u011bkdy ozna\u010dov\u00e1na jako „orphan diseases“, tedy „nemoci sirotci“, kter\u00e9 b\u00fdvaj\u00ed p\u0159ehl\u00ed\u017eeny. Jednodu\u0161e na n\u011b nikdo nepomysl\u00ed, a tak tito nemocn\u00ed \u010dasto proch\u00e1z\u00ed diagnostick\u00fdm martyriem, kter\u00e9 m\u016f\u017ee trvat i n\u011bkolik let. B\u011bhem dlouh\u00e9 doby tak za\u017e\u00edvaj\u00ed pocity beznad\u011bje, zklam\u00e1n\u00ed a nejistoty. N\u00e1ro\u010dn\u00e1 situace dopad\u00e1 i na jejich bl\u00edzk\u00e9.
\n„Vzhledem ke klinick\u00e9 pestrosti, velk\u00e9mu po\u010dtu nemoc\u00ed a pom\u011brn\u011b n\u00edzk\u00e9mu v\u00fdskytu ka\u017ed\u00e9 jednotliv\u00e9 vz\u00e1cn\u00e9 nemoci v populaci nem\u00edvaj\u00ed prakti\u010dt\u00ed l\u00e9ka\u0159i a \u010dasto ani odborn\u00edci r\u016fzn\u00fdch specializac\u00ed znalosti o p\u0159\u00edslu\u0161n\u00e9 chorob\u011b. Pacient velmi \u010dasto putuje zdravotnick\u00fdm syst\u00e9mem od odborn\u00edka k odborn\u00edkovi a diagn\u00f3za vz\u00e1cn\u00e9 choroby se typicky stanov\u00ed a\u017e s n\u011bkolikalet\u00fdm odstupem od za\u010d\u00e1tku klinick\u00fdch probl\u00e9m\u016f,“ vysv\u011btluje profesor Viktor Ko\u017eich, p\u0159ednosta \u00dastavu d\u011bdi\u010dn\u00fdch metabolick\u00fdch poruch V\u0161eobecn\u00e9 fakultn\u00ed nemocnice v Praze a 1. l\u00e9ka\u0159sk\u00e9 fakulty Univerzity Karlovy. Pr\u00e1v\u011b toto superkonzili\u00e1rn\u00ed pracovi\u0161t\u011b je jedn\u00edm z t\u011bch, kam se sj\u00ed\u017ed\u00ed pacienti z cel\u00e9 republiky, a stejn\u011b tak se na n\u011bj mohou obracet l\u00e9ka\u0159i, kte\u0159\u00ed cht\u011bj\u00ed konzultovat stav sv\u00fdch pacient\u016f.
\nB\u011bhem let, kdy nemocn\u00ed \u010dekaj\u00ed, ne\u017e se kone\u010dn\u011b dozv\u011bd\u00ed spr\u00e1vnou diagn\u00f3zu, jsou l\u00e9\u010deni \u0161patn\u011b, nebo dokonce v\u016fbec a jejich stav se zhor\u0161uje. Nev\u011bd\u00ed, co se s nimi d\u011bje, co je \u010dek\u00e1 ani co by jim mohlo pomoci. Spolu s t\u00edm kles\u00e1 i kvalita jejich \u017eivota. V p\u0159\u00edpad\u011b chybn\u00fdch nebo pozdn\u00edch diagn\u00f3z vz\u00e1cn\u00fdch onemocn\u011bn\u00ed bohu\u017eel doch\u00e1z\u00ed k nevratn\u00e9mu po\u0161kozen\u00ed zdrav\u00ed.
\nS t\u00edm, jak nemoc postupuje, ub\u00fdvaj\u00ed mo\u017enosti vyu\u017eit\u00ed dostupn\u00e9 l\u00e9\u010dby. Ta je sice k dispozici jen pro zlomek nemocn\u00fdch, ale i u chorob, kter\u00e9 nelze vyl\u00e9\u010dit, je mo\u017en\u00e9 brzdit jejich postup a \u00fa\u010dinn\u011b ulevovat od p\u0159\u00edznak\u016f. A proto je tak d\u016fle\u017eit\u00e9, aby byli pacienti se vz\u00e1cn\u00fdmi onemocn\u011bn\u00edmi v\u010das a spr\u00e1vn\u011b diagnostikov\u00e1ni.<\/p>\n

Nejste sami<\/p>\n

V p\u0159\u00edpad\u011b, \u017ee se u dosp\u011bl\u00e9ho nebo u d\u00edt\u011bte objev\u00ed n\u011bjak\u00e9 dlouhodob\u00e9 a neobjasn\u011bn\u00e9 p\u0159\u00edznaky nemoci a stav nemocn\u00e9ho se p\u0159i standardn\u00ed terapii nezlep\u0161\u00ed, pot\u00ed\u017ee trvaj\u00ed d\u00e9le ne\u017e obvykle nebo se vracej\u00ed, je nam\u00edst\u011b myslet na vz\u00e1cn\u00e9 onemocn\u011bn\u00ed. O\u0161et\u0159uj\u00edc\u00ed l\u00e9ka\u0159 by pak m\u011bl p\u0159edat pacienta do n\u011bkter\u00e9ho ze specializovan\u00fdch center nebo kontaktovat N\u00e1rodn\u00ed koordina\u010dn\u00ed centrum pro vz\u00e1cn\u00e1 onemocn\u011bn\u00ed, kter\u00e9 funguje v r\u00e1mci \u00dastavu biologie a l\u00e9ka\u0159sk\u00e9 genetiky 2. l\u00e9ka\u0159sk\u00e9 fakulty Univerzity Karlovy a Fakultn\u00ed nemocnice Motol v Praze a zprost\u0159edkuje kontakt na p\u0159\u00edslu\u0161n\u00e9 specialisty. P\u0159\u00edtomnost neobjasn\u011bn\u00fdch p\u0159\u00edznak\u016f sama o sob\u011b je\u0161t\u011b neznamen\u00e1, \u017ee \u010dlov\u011bk skute\u010dn\u011b trp\u00ed n\u011bkter\u00fdm ze vz\u00e1cn\u00fdch onemocn\u011bn\u00ed, ale m\u011bla by b\u00fdt d\u016fvodem k zah\u00e1jen\u00ed podrobn\u011bj\u0161\u00edho medic\u00ednsk\u00e9ho „p\u00e1tr\u00e1n\u00ed“. O informace a pomoc v n\u00e1ro\u010dn\u00e9 situaci mohou l\u00e9ka\u0159i i sami pacienti po\u017e\u00e1dat i na konzulta\u010dn\u00edm e-mailu Help@vzacna-onemocneni. cz. Za t\u00edmto online projektem stoj\u00ed pr\u00e1v\u011b N\u00e1rodn\u00ed koordina\u010dn\u00ed centrum pro vz\u00e1cn\u00e1 onemocn\u011bn\u00ed a \u010cesk\u00e1 asociace pro vz\u00e1cn\u00e1 onemocn\u011bn\u00ed. V\u00edce informac\u00ed o t\u011bchto chorob\u00e1ch a tak\u00e9 o tom, jak\u00e9 to je, s nimi \u017e\u00edt, nab\u00edz\u00ed tak\u00e9 webov\u00fd projekt Vzacni.cz. Ten p\u0159edstavuje p\u0159\u00edb\u011bhy osob s r\u016fzn\u00fdmi vz\u00e1cn\u00fdmi diagn\u00f3zami a tak\u00e9 informace o jednotliv\u00fdch chorob\u00e1ch spolu s odkazy na pacientsk\u00e9 organizace a dal\u0161\u00ed zdroje informac\u00ed.
\n„Nedok\u00e1\u017eeme sice pomoci v medic\u00edn\u011b, ale m\u00e1me zku\u0161enosti se \u017eivotem se vz\u00e1cnou nemoc\u00ed a dok\u00e1\u017eeme se orientovat ve zdravotn\u00edm syst\u00e9mu. Ka\u017ed\u00fd, koho se t\u00fdk\u00e1 problematika vz\u00e1cn\u00fdch onemocn\u011bn\u00ed, by m\u011bl v\u011bd\u011bt, \u017ee existuje pomoc a on nemus\u00ed z\u016fstat s\u00e1m,“ uzav\u00edr\u00e1 Arellanesov\u00e1.<\/p>\n

—<\/p>\n

O vz\u00e1cn\u00fdch onemocn\u011bn\u00edch se v\u011bt\u0161inou m\u00e1lo v\u00ed, m\u00e1lokdo je um\u00ed rozpozn\u00e1vat a l\u00e9\u010dit. Jde p\u0159itom o choroby velmi v\u00e1\u017en\u00e9.<\/p>\n

P\u0159\u00edklady vz\u00e1cn\u00fdch onemocn\u011bn\u00ed<\/p>\n

„Nemoc mot\u00fdl\u00edch k\u0159\u00eddel“ (Epidermolis bullosa)<\/p>\n

I p\u0159i lehk\u00e9m tlaku se na k\u016f\u017ei tvo\u0159\u00ed bolestiv\u00e9 puch\u00fd\u0159e. Objevuj\u00ed se i v \u00fastech \u010di na sliznic\u00edch tr\u00e1vic\u00edho traktu. Nemocn\u00ed nemohou vykon\u00e1vat ani nejb\u011b\u017en\u011bj\u0161\u00ed \u00fakony, jako t\u0159eba otev\u0159\u00edt lahev s vodou. Geneticky podm\u00edn\u011bnou chorobu nelze vyl\u00e9\u010dit, ale d\u00e1 se zv\u00fd\u0161it kvalita \u017eivota nemocn\u00fdch.<\/p>\n

Osteogenesis imperfecta D\u011bdi\u010dn\u00e9 onemocn\u011bn\u00ed pojivov\u00e9 tk\u00e1n\u011b, zp\u016fsobuje k\u0159ehkost kost\u00ed vedouc\u00ed k mnoho\u010detn\u00fdm zlomenin\u00e1m, lomivost zub\u016f a tak\u00e9 ztr\u00e1tu sluchu. Nemoc nelze vyl\u00e9\u010dit.<\/p>\n

Fenylketonurie Porucha enzymu zodpov\u011bdn\u00e9ho za p\u0159em\u011bnu aminokyseliny fenylalaninu na jinou aminokyselinu tyrozin. Nel\u00e9\u010den\u00e1 choroba vede ke hromad\u011bn\u00ed fenylalaninu v krvi a n\u00e1sledn\u011b k po\u0161kozen\u00ed mozku a velmi n\u00edzk\u00e9 inteligenci. Speci\u00e1ln\u00ed v\u00fd\u017eivou je mo\u017en\u00e9 posti\u017een\u00ed zabr\u00e1nit.<\/p>\n

Cystick\u00e1 fibr\u00f3za Projevuje se chronick\u00fdm onemocn\u011bn\u00edm d\u00fdchac\u00edch cest, ve kter\u00fdch se tvo\u0159\u00ed abnorm\u00e1ln\u00ed mno\u017estv\u00ed hust\u00e9ho hlenu, a nedostate\u010dnou funkc\u00ed slinivky, nemocn\u00fd nedok\u00e1\u017ee spr\u00e1vn\u011b tr\u00e1vit potravu a z\u00edsk\u00e1vat z n\u00ed \u017eiviny. Nemoc nelze vyl\u00e9\u010dit, je ale mo\u017en\u00e9 ovlivnit jej\u00ed projevy. D\u00edky novorozeneck\u00e9mu screeningu je mo\u017en\u00e9 v\u010das zachytit nemocn\u00e9 d\u011bti.<\/p>\n

 <\/p>\n

LUDMILA HAMPLOV\u00c1<\/p>\n

Lidov\u00e9 noviny<\/p>\n","protected":false},"excerpt":{"rendered":"

T\u011bmto onemocn\u011bn\u00edm se \u0159\u00edk\u00e1 vz\u00e1cn\u00e1. Jen\u017ee je jich tolik druh\u016f, \u017ee jen v \u010cesku \u017eije asi 600 a\u017e 800 tis\u00edc lid\u00ed, kte\u0159\u00ed jimi trp\u00ed. Na […]<\/a><\/p>\n<\/div>","protected":false},"author":1,"featured_media":8809,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[9],"tags":[],"class_list":["post-25693","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\/25693","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=25693"}],"version-history":[{"count":0,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts\/25693\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/media\/8809"}],"wp:attachment":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=25693"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=25693"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=25693"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}