{"id":42023,"date":"2023-09-08T16:54:18","date_gmt":"2023-09-08T14:54:18","guid":{"rendered":"https:\/\/www.invarena.cz\/?p=42023"},"modified":"2023-09-08T16:54:19","modified_gmt":"2023-09-08T14:54:19","slug":"mala-divka-trpi-vzacnou-genetickou-vadou-ma-ji-jen-par-lidi-na-svete","status":"publish","type":"post","link":"https:\/\/www.invarena.cz\/?p=42023","title":{"rendered":"Mal\u00e1 d\u00edvka trp\u00ed vz\u00e1cnou genetickou vadou. M\u00e1 ji jen p\u00e1r lid\u00ed na sv\u011bt\u011b"},"content":{"rendered":"\n

ilustra\u010dn\u00ed foto<\/em><\/p>\n\n\n\n

Hned po narozen\u00ed museli l\u00e9ka\u0159i Ta\u0165\u00e1nku, kter\u00e1 se sv\u00fdmi rodi\u010di Monikou a V\u00e1clavem \u017eije v \u017dinkovech na Plze\u0148sku, okam\u017eit\u011b resuscitovat. Na prvn\u00ed pohled bylo patrn\u00e9, \u017ee s n\u00ed nen\u00ed v\u0161e v po\u0159\u00e1dku. Podrobn\u00e1 vy\u0161et\u0159en\u00ed odhalila, \u017ee se pot\u00fdk\u00e1 s \u0159adou zdravotn\u00edch probl\u00e9m\u016f, kter\u00e9 zp\u016fsobila duplikace \u010d\u00e1sti 17. chromozomu.<\/p>\n\n\n\n

Tuto genetickou vadu m\u00e1 jen p\u00e1r lid\u00ed na sv\u011bt\u011b a je nel\u00e9\u010diteln\u00e1. \u201ePodle na\u0161ich informac\u00ed ji Ta\u0165\u00e1nka m\u00e1 z\u0159ejm\u011b jako jedin\u00e1 v \u010cesk\u00e9 republice,\u201c \u0159ekla Den\u00edku pan\u00ed Monika.<\/p>\n\n\n\n

\u201eU\u017e na porodn\u00edm s\u00e1le bylo vid\u011bt, \u017ee m\u00e1 dcera hrozn\u011b malinkou hlavi\u010dku, a tak l\u00e9ka\u0159i na\u0159\u00eddili spoustu vy\u0161et\u0159en\u00ed, kter\u00e1 by odhalila, co se d\u011bje. Absolvovala odb\u011br mozkom\u00ed\u0161n\u00edho moku, magnetick\u00e9 rezonance, \u0159adu genetick\u00fdch vy\u0161et\u0159en\u00ed\u2026 A t\u00edm v\u0161\u00edm si musela proj\u00edt, kdy\u017e j\u00ed byl pouh\u00fd t\u00fdden,\u201c vzpom\u00edn\u00e1 maminka nyn\u00ed \u010dty\u0159let\u00e9 hol\u010di\u010dky.<\/p>\n\n\n\n

\u201eNakonec bylo zji\u0161t\u011bno, \u017ee u Ta\u0165\u00e1nky jde o duplicitu \u010d\u00e1sti dlouh\u00fdch ram\u00e9nek na 17. chromozomu. Je to velice vz\u00e1cn\u00e1 genetick\u00e1 vada, tak\u017ee o n\u00ed prakticky nikdo nic nev\u00ed. I l\u00e9ka\u0159i nad n\u00ed st\u00e1li doslova s kn\u00ed\u017ekou,\u201c dopl\u0148uje tat\u00ednek V\u00e1clav.<\/p>\n\n\n\n

Mezi komplikace spojen\u00e9 s t\u00edmto onemocn\u011bn\u00edm se \u0159ad\u00ed mikrocefalie, tedy porucha r\u016fstu mozku a obvykle i cel\u00e9 hlavy, ochablost svalstva, probl\u00e9my s p\u0159\u00edjmem potravy, ment\u00e1ln\u00ed posti\u017een\u00ed a celkov\u00e9 opo\u017ed\u011bn\u00ed v\u00fdvoje. Pot\u00fdk\u00e1 se s nimi i Ta\u0165\u00e1nka.<\/p>\n\n\n\n

\u201e\u017divot s touto vadou obn\u00e1\u0161\u00ed neust\u00e1l\u00e9 cvi\u010den\u00ed na rehabilitac\u00edch, jezd\u00edme tak\u00e9 na ergoterapie a hipoterapie a v pl\u00e1nu m\u00e1me nov\u011b i logopedii. Tak\u00e9 \u010dasto nav\u0161t\u011bvujeme l\u00e9ka\u0159e, p\u0159edev\u0161\u00edm gastroenterologii, proto\u017ee m\u00e1 Ta\u0165\u00e1nka kv\u016fli poru\u0161e p\u0159\u00edjmu potravy PEG (v\u00fd\u017eivovou sondu zavedenou p\u0159es k\u016f\u017ei do \u017ealudku \u2013 pozn. aut.). D\u00e1le jezd\u00edme na kardiologii, neurologii, k nutri\u010dn\u00edmu terapeutovi, d\u011btsk\u00e9mu psychologovi a dal\u0161\u00edm odborn\u00edk\u016fm,\u201c vyjmenov\u00e1v\u00e1 maminka.<\/p>\n\n\n\n

S man\u017eelem V\u00e1clavem se shoduje v tom, \u017ee \u017eivot s Ta\u0165\u00e1nkou jim i velmi mnoho dal. \u201eTrouf\u00e1m si \u0159\u00edct, \u017ee n\u00e1s to hodn\u011b posunulo. Od doby, co p\u0159i\u0161la na sv\u011bt, bereme \u017eivot s velkou pokorou, nebereme nic jako samoz\u0159ejmost a j\u00e1 osobn\u011b se dr\u017e\u00edm motta \u201aKdy\u017e pr\u0161\u00ed, hledej duhu. Kdy\u017e je tma, hledej hv\u011bzdy.\u2018 Je t\u0159eba za v\u0161\u00edm hledat tu lep\u0161\u00ed str\u00e1nku, pak jde v\u0161e snadn\u011bji,\u201c \u0159\u00edk\u00e1 pan\u00ed Monika.<\/p>\n\n\n\n

U\u017e si pomlask\u00e1v\u00e1<\/p>\n\n\n\n

P\u0159ed \u010dasem rodi\u010de nav\u0161t\u00edvili s Ta\u0165\u00e1nkou rakouskou kliniku, kde se specializuj\u00ed na d\u011bti s poruchami p\u0159\u00edjmu potravy a d\u011bti se sondou. \u201eNa klinice n\u00e1m velice pomohli. I kdy\u017e to nebylo hned, T\u00e1ni\u010dka se postupn\u011b rozjedla a nyn\u00ed sondu pou\u017e\u00edv\u00e1me u\u017e jen v krajn\u00edch p\u0159\u00edpadech p\u0159i nemoci nebo na pod\u00e1v\u00e1n\u00ed l\u00e9k\u016f,\u201c \u0159\u00edk\u00e1 s vd\u011b\u010dnost\u00ed maminka.<\/p>\n\n\n\n

\u201eKdybych m\u011bla \u0159\u00edct, co n\u00e1m v posledn\u00ed dob\u011b ud\u011blalo nejv\u011bt\u0161\u00ed radost, tak je to pr\u00e1v\u011b to, \u017ee se m\u016f\u017eu d\u00edvat, jak T\u00e1ni\u010dka j\u00ed, pomlask\u00e1v\u00e1 si, kou\u0161e, a jak j\u00ed chutn\u00e1. \u010cekali jsme na to v\u00edc ne\u017e \u010dty\u0159i roky a kdy\u017e k tomu \u0159ekne \u201amami ham\u2018 nebo \u201am\u0148am\u2018, m\u00e1m doslova slzy v o\u010d\u00edch. Asi se to d\u00e1 t\u011b\u017eko pochopit, ale pro n\u00e1s je to \u00fa\u017easn\u00fd posun v jej\u00edm v\u00fdvoji,\u201c dod\u00e1v\u00e1.<\/p>\n\n\n\n

U\u017e rok rodin\u011b mal\u00e9 Ta\u0165\u00e1nky pom\u00e1haj\u00ed Dob\u0159\u00ed and\u011bl\u00e9 prost\u0159ednictv\u00edm nadace Dobr\u00fd and\u011bl, kter\u00e1 poskytuje pravidelnou finan\u010dn\u00ed pomoc rodin\u00e1m s d\u011btmi, v nich\u017e se d\u00edt\u011b, maminka nebo tat\u00ednek pot\u00fdkaj\u00ed s v\u00e1\u017en\u00fdm onemocn\u011bn\u00edm.<\/p>\n\n\n\n

\u201eNesm\u00edrn\u011b si t\u00e9to pomoci v\u00e1\u017e\u00edme. V\u0161echny pot\u0159ebn\u00e9 terapie, rehabilitace a pohonn\u00e9 hmoty na ve\u0161ker\u00e9 dojezdy k l\u00e9ka\u0159\u016fm, n\u00e1s m\u011bs\u00ed\u010dn\u011b vyjdou na tis\u00edce. Za ka\u017edou korunu nav\u00edc jsme proto opravdu vd\u011b\u010dn\u00ed,\u201c uzav\u00edr\u00e1 pan\u00ed Monika.<\/p>\n\n\n\n

Jak pom\u00e1hat<\/p>\n\n\n\n

Pokud byste se cht\u011bli tak\u00e9 st\u00e1t Dobr\u00fdm and\u011blem a pom\u00e1hat takov\u00fdmto rodin\u00e1m, je to jednoduch\u00e9. Sta\u010d\u00ed se zaregistrovat na www.dobryandel.cz, zvolit libovolnou v\u00fd\u0161i p\u0159\u00edsp\u011bvku a za\u010d\u00edt p\u0159isp\u00edvat. Nadace va\u0161e p\u0159\u00edsp\u011bvky rodin\u00e1m odevzd\u00e1 do posledn\u00edho hal\u00e9\u0159e a vy se d\u00edky sv\u00e9mu And\u011blsk\u00e9mu \u00fa\u010dtu m\u016f\u017eete ka\u017ed\u00fd m\u011bs\u00edc pod\u00edvat, kter\u00e9 konkr\u00e9tn\u00ed rodin\u011b jste pomohli.<\/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":"

ilustra\u010dn\u00ed foto Hned po narozen\u00ed museli l\u00e9ka\u0159i Ta\u0165\u00e1nku, kter\u00e1 se sv\u00fdmi rodi\u010di Monikou a V\u00e1clavem \u017eije v \u017dinkovech na Plze\u0148sku, okam\u017eit\u011b resuscitovat. Na prvn\u00ed pohled […]<\/a><\/p>\n<\/div>","protected":false},"author":1,"featured_media":21454,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[9],"tags":[],"class_list":["post-42023","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\/42023","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=42023"}],"version-history":[{"count":0,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts\/42023\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/media\/21454"}],"wp:attachment":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=42023"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=42023"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=42023"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}