{"id":23206,"date":"2015-10-23T10:50:21","date_gmt":"2015-10-23T08:50:21","guid":{"rendered":"http:\/\/www.invarena.cz\/?p=23206"},"modified":"2015-10-23T10:50:21","modified_gmt":"2015-10-23T08:50:21","slug":"maruska-zije-s-motylimi-kridly-jako-bezne-dite","status":"publish","type":"post","link":"https:\/\/www.invarena.cz\/?p=23206","title":{"rendered":"Maru\u0161ka \u017eije s mot\u00fdl\u00edmi k\u0159\u00eddly jako b\u011b\u017en\u00e9 d\u00edt\u011b"},"content":{"rendered":"<p><strong>Vz\u00e1cn\u00fdm genetick\u00fdm onemocn\u011bn\u00edm s n\u00e1zvem epidermolysis bullosa trp\u00ed v \u010cesk\u00e9 republice zhruba 300 lid\u00ed<\/strong> <!--more--><\/p>\n<p>\u00dast\u00ed nad Labem \u2013 Nepatrn\u00fdch puch\u00fd\u0159k\u016f na ru\u010di\u010dk\u00e1ch si v\u0161imli u sv\u00e9 dcerky Maru\u0161ky man\u017eel\u00e9 Milan a D\u00e1\u0161a Langrovi, kdy\u017e si ji p\u0159ed dvan\u00e1cti lety donesli dom\u016f z porodnice. Pediatr je uklidnil, \u017ee to nic nen\u00ed a puch\u00fd\u0159ky brzy zmiz\u00ed. &#8222;V p\u016fl roce jsme ale za\u010dali chodit na plav\u00e1n\u00ed a puch\u00fd\u0159ky se krom\u011b rukou objevily i na no\u017ek\u00e1ch. A byly v\u011bt\u0161\u00ed a zarudlej\u0161\u00ed. \u0160li jsme na ko\u017en\u00ed, kde pan\u00ed doktorka okam\u017eit\u011b rozpoznala, o co jde. Jak se tak \u0159\u00edk\u00e1, &#8222;nad\u011blila n\u00e1m to&#8220;, vzpom\u00ednaj\u00ed rodi\u010de mal\u00e9 Maru\u0161ky s t\u00edm, \u017ee l\u00e9ka\u0159ka dce\u0159i zjistila nemoc s n\u00e1zvem epidermolysis bullosa, v\u00edce zn\u00e1mou pod ozna\u010den\u00edm nemoc mot\u00fdl\u00edch k\u0159\u00eddel. Jde o vz\u00e1cn\u00e9 genetick\u00e9 onemocn\u011bn\u00ed, kter\u00fdm v \u010cesk\u00e9 republice trp\u00ed asi 300 lid\u00ed. Je charakteristick\u00e9 tvorbou puch\u00fd\u0159\u016f, kter\u00e9 jsou vyvol\u00e1ny minim\u00e1ln\u00edmi mechanick\u00fdmi a tepeln\u00fdmi podn\u011bty.<\/p>\n<p>M\u00edrn\u011bj\u0161\u00ed forma<\/p>\n<p>&#8222;N\u00e1sledovala \u0159ada test\u016f, v\u0161ichni t\u0159i jsme museli d\u00e1t krev, kter\u00e1 se vy\u0161et\u0159ovala v laborato\u0159i v Bruselu. M\u00e1me ale \u0161t\u011bst\u00ed v ne\u0161t\u011bst\u00ed, proto\u017ee se sice Maru\u0161\u010dina nemoc potvrdila, ov\u0161em diagnostikovali j\u00ed tu m\u00edrn\u011bj\u0161\u00ed formu,&#8220; vypr\u00e1v\u00ed Milan Langr a vysv\u011btluje, \u017ee se nemoc u jeho dcery vyskytuje na plosk\u00e1ch rukou a nohou a d\u00e1le u\u017e postupovat nebude. U jin\u00fdch p\u0159\u00edpad\u016f se ov\u0161em m\u016f\u017ee i zhor\u0161ovat a m\u00e1 mnohem t\u011b\u017e\u0161\u00ed pr\u016fb\u011bh.<\/p>\n<p>I p\u0159es uklidn\u011bn\u00ed, \u017ee jejich d\u00edt\u011b bude moci \u017e\u00edt norm\u00e1ln\u00ed \u017eivot bez omezen\u00ed, za\u010dali oba man\u017eel\u00e9 p\u00e1trat po p\u0159\u00ed\u010din\u00e1ch onemocn\u011bn\u00ed. &#8222;Nikdo to v rodin\u011b nem\u00e1me. V knihovn\u011b jsme si p\u016fj\u010dili odbornou literaturu a zjistili tak, \u017ee jde o nemoc zp\u016fsobenou dv\u011bma zmutovan\u00fdmi geny, kter\u00e9 m\u00e1me s man\u017eelem stejn\u011b vadn\u00e9,&#8220; podot\u00fdk\u00e1 maminka D\u00e1\u0161a. Jak zmi\u0148uje, kdyby ona nebo jej\u00ed mu\u017e m\u011bli gen v po\u0159\u00e1dku, dcera by byla zdrav\u00e1.<\/p>\n<p>11let\u00e1 Maru\u0161ka se nau\u010dila s &#8222;mot\u00fdl\u00edmi k\u0159\u00eddly&#8220; \u017e\u00edt jako b\u011b\u017en\u00e9 d\u00edt\u011b v jej\u00edm v\u011bku, onemocn\u011bn\u00ed nem\u00e1 vliv na jej\u00ed intelekt a neklade j\u00ed vlastn\u011b \u017e\u00e1dn\u00e9 p\u0159ek\u00e1\u017eky. Ko\u017en\u00ed p\u0159\u00edznaky nejsou takt\u00e9\u017e skoro vid\u011bt. Chod\u00ed si tedy ven hr\u00e1t s kamar\u00e1dy, brusl\u00ed, ly\u017euje a ve \u0161kole i cvi\u010d\u00ed.<\/p>\n<p>T\u011b\u017ek\u00e9 za\u010d\u00e1tky<\/p>\n<p>&#8222;Nem\u016f\u017eu ale l\u00e9zt po lan\u011b, za\u010dnou se mi potit ruce a puch\u00fd\u0159e automaticky nasko\u010d\u00ed. V\u0161ichni to ale ve \u0161kole v\u011bd\u00ed,&#8220; vypr\u00e1v\u00ed \u0161kola\u010dka. &#8222;Za\u010d\u00e1tky byly t\u011b\u017ek\u00e9, ne\u017e jsme zjistili, co m\u016f\u017ee a co ne. Kdy\u017e jsme ji jednou nechali \u0159\u00e1dit na prol\u00e9za\u010dce, tak j\u00ed dokonce visela z rukou k\u016f\u017ee. Za\u010dali n\u00e1m p\u0159edepisovat zinkovou mast na regeneraci a p\u0159i j\u00edzd\u011b na kole nebo \u0161plh\u00e1n\u00ed u\u017e nos\u00ed rukavi\u010dky. Pravideln\u011b tak\u00e9 jednou za rok jezd\u00edme na vy\u0161et\u0159en\u00ed do Brna,&#8220; vypr\u00e1v\u00ed D\u00e1\u0161a Langrov\u00e1.<\/p>\n<p>Pr\u00e1v\u011b v Brn\u011b se nach\u00e1z\u00ed Fakultn\u00ed nemocnice, kter\u00e1 se jako jedin\u00e1 v republice nemoc\u00ed mot\u00fdl\u00edch k\u0159\u00eddel zab\u00fdv\u00e1. Nejbli\u017e\u0161\u00ed podobn\u00e9 centrum je a\u017e v rakousk\u00e9m Salzburgu. V Brn\u011b se pak tak\u00e9 pravideln\u011b konaj\u00ed v\u00fdro\u010dn\u00ed konference DEBRY, charitativn\u00ed organizace, je\u017e lidi s t\u00edmto onemocn\u011bn\u00edm podporuje. Patronkou DEBRY je zn\u00e1m\u00e1 here\u010dka Jitka \u010cvan\u010darov\u00e1 a mezi zakl\u00e1daj\u00edc\u00edmi \u010dleny jsou pr\u00e1v\u011b man\u017eel\u00e9 Langrovi.<\/p>\n<p>Paradoxem, ale hlavn\u011b uk\u00e1zkov\u00fdm p\u0159\u00edkladem pokory je, \u017ee se ze za\u010d\u00e1tku oba rodi\u010de c\u00edtili, jak sami \u0159\u00edkaj\u00ed, trapn\u011b. A to ve chv\u00edli, kdy p\u0159ijeli na brn\u011bnskou konferenci a vid\u011bli t\u011b\u017ek\u00e9 formy nemoci mot\u00fdl\u00edch k\u0159\u00eddel, vyzna\u010duj\u00edc\u00ed se t\u00edm, \u017ee pacienti maj\u00ed srostl\u00e9 prsty, velk\u00e9 bol\u00e1ky po cel\u00e9m t\u011ble a \u010d\u00e1sti posti\u017een\u00e9ho m\u00edsta obv\u00e1zan\u00e9 obvazy, ale t\u00e9\u017e i puch\u00fd\u0159e v j\u00edcnu \u010di \u00fastech.<\/p>\n<p>\u0160\u00ed\u0159en\u00ed osv\u011bty<\/p>\n<p>&#8222;Maru\u0161ka m\u00e1 projevy minim\u00e1ln\u00ed. Najednou jsme vid\u011bli velk\u00e9 ne\u0161t\u011bst\u00ed druh\u00fdch a \u0159\u00edkali jsme si, co tu vlastn\u011b d\u011bl\u00e1me, v\u017edy\u0165 oproti nim je na\u0161e dcera zdrav\u00e1. Pak jsme se ale i od ostatn\u00edch rodi\u010d\u016f dozv\u011bd\u011bli, \u017ee se v\u016fbec nemus\u00edme styd\u011bt, \u017ee oni sami jsou r\u00e1di a \u0161\u0165astn\u00ed, kdy\u017e vid\u00ed n\u011bkoho, kdo m\u00e1 tuto lehkou formu nemoci. Tak\u017ee n\u00e1s to podpo\u0159ilo v tom, abychom \u0161\u00ed\u0159ili osv\u011btu v nemoci mot\u00fdl\u00edch k\u0159\u00eddel,&#8220; \u0159\u00edk\u00e1 Langrov\u00e1 a vzpom\u00edn\u00e1 na p\u0159\u00edpady z doby, kdy lid\u00e9 je\u0161t\u011b o onemocn\u011bn\u00ed nem\u011bli dostatek informac\u00ed.<\/p>\n<p>&#8222;D\u0159\u00edve, kdy\u017e p\u0159i\u0161la maminka na p\u00edskovi\u0161t\u011b se zav\u00e1zan\u00fdm d\u00edt\u011btem, tak ostatn\u00ed maminky sebraly hra\u010dky, vzaly sv\u00e9 zdrav\u00e9 ratolesti a ode\u0161ly. Dneska jsou lid\u00e9 u\u017e informovan\u00ed a o nemoci se za\u010d\u00edn\u00e1 mluvit. A to je jedin\u011b dob\u0159e,&#8220; uzav\u00edr\u00e1 D\u00e1\u0161a Langrov\u00e1.<\/p>\n<p>KRISTI\u00c1N \u0160UJAN<br \/>\n\u00dasteck\u00fd den\u00edk<br \/>\n<a href=\"http:\/\/www.ustecky.denik.cz\/\">http:\/\/www.ustecky.denik.cz\/<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<div class=\"mh-excerpt\"><p>Vz\u00e1cn\u00fdm genetick\u00fdm onemocn\u011bn\u00edm s n\u00e1zvem epidermolysis bullosa trp\u00ed v \u010cesk\u00e9 republice zhruba 300 lid\u00ed<\/p>\n<\/div>","protected":false},"author":1,"featured_media":14151,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[9],"tags":[],"class_list":["post-23206","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\/23206","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=23206"}],"version-history":[{"count":0,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts\/23206\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/media\/14151"}],"wp:attachment":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=23206"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=23206"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=23206"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}