Ne\u0161\u0165astn\u00e1 mutace jedin\u00e9ho genu obr\u00e1tila naruby \u017eivot rodin\u011b Ramp\u00edrov\u00fdch. Jejich dcera Leont\u00fdnka brzy oslav\u00ed \u010dtrn\u00e1ct\u00e9 narozeniny, bojuje ale s handicapem. Situaci by uleh\u010dilo po\u0159\u00edzen\u00ed v\u011bt\u0161\u00edho auta, na kter\u00e9 v\u0161ak rodin\u011b chyb\u00ed pen\u00edze.<\/p>\n\n\n\n
Po narozen\u00ed Leont\u00fdnky se zd\u00e1lo b\u00fdt v\u0161e v po\u0159\u00e1dku, po p\u016fl roce si ale rodi\u010de v\u0161imli, \u017ee m\u00e1 d\u00edvka st\u00e1le zav\u0159en\u00e9 ruce v p\u011bst, n\u00e1sledn\u011b se za\u010daly zhor\u0161ovat dovednosti, nedok\u00e1zala ani udr\u017eet vzp\u0159\u00edmenou hlavu. Po n\u00e1v\u0161t\u011bv\u011b neurologie n\u00e1sledovalo d\u016fkladn\u011bj\u0161\u00ed vy\u0161et\u0159en\u00ed v pra\u017esk\u00e9m Motole. \u201eTrvalo mnoho let, ne\u017e l\u00e9ka\u0159i p\u0159i\u0161li s verdiktem, \u017ee na\u0161e dcera trp\u00ed Pitt-Hopkinsov\u00fdm syndromem,\u201c popisuje otec Tom\u00e1\u0161.<\/p>\n\n\n\n
Jde o vz\u00e1cnou genetickou chorobu, kterou m\u00e1 diagnostikovanou jen zhruba p\u011bt lid\u00ed z milionu. \u201eVznik\u00e1 v d\u016fsledku mutace genu TCF4, kter\u00e1 skoro nikdy nen\u00ed d\u011bdi\u010dn\u00e9ho r\u00e1zu. Jde zkr\u00e1tka o n\u00e1hodu. Leont\u00fdnka se pot\u00fdk\u00e1 s t\u011b\u017ekou psychomotorickou retardac\u00ed, stigmatizac\u00ed, centr\u00e1ln\u00edm hypotonick\u00fdm syndromem, epilepsi\u00ed, hypotoni\u00ed kon\u010detin, zv\u00fd\u0161enou kloubn\u00ed hyperexcitabilitou, faci\u00e1ln\u00edm dysmorfismem, intermitentn\u00edm horizont\u00e1ln\u00edm nystagmem, t\u011b\u017ekou retardac\u00ed \u0159e\u010dov\u00e9ho v\u00fdvoje a Pitt-Hopkinsov\u00fdm syndromem.<\/p>\n\n\n\n
Leont\u00fdnka se p\u0159ed \u010dasem d\u00edky \u0161t\u011bdrosti d\u00e1rc\u016f do\u010dkala ps\u00edho kamar\u00e1da, kter\u00fd j\u00ed nejen t\u011b\u0161\u00ed, ale i pom\u00e1h\u00e1. V\u00fdt\u011b\u017eek z tomboly na plese pak pomohl rodin\u011b po\u0159\u00eddit speci\u00e1ln\u00ed ko\u010d\u00e1rek. Nyn\u00ed je ale pot\u0159eba v\u00edce pen\u011bz, rodin\u011b by toti\u017e v\u00fdrazn\u011b uleh\u010dilo \u017eivot velk\u00e9 auto. Vyhl\u00eddnut\u00e1 Toyota Proace Verso vyjde na zhruba osm set tis\u00edc. Pom\u016f\u017ee \u00fa\u0159ad pr\u00e1ce, nadace EPP Pom\u00e1hej pohybem, nadace \u010cEZ i Dobr\u00fd And\u011bl, chyb\u00ed zhruba t\u0159i sta pades\u00e1t tis\u00edc, o kter\u00e9 rodina po\u017e\u00e1dala skrz sb\u00edrku na webu znesn\u00e1ze. Rodina je vd\u011b\u010dn\u00e1 nejen za zaslan\u00e9 pen\u00edze, ale i sd\u00edlen\u00ed odkazu na soci\u00e1ln\u00edch s\u00edt\u00edch.<\/p>\n\n\n\n
Auto pom\u016f\u017ee i p\u0159i cest\u00e1ch do l\u00e1zn\u00ed, kde se Leont\u00fdnce dost\u00e1v\u00e1 profesion\u00e1ln\u00ed p\u00e9\u010de. \u201eVezeme s sebou na 28 dn\u00ed plenky, granule, invalidn\u00ed voz\u00ed\u010dek, sportovn\u00ed ko\u010d\u00e1r X-Rover, speci\u00e1ln\u00ed leh\u00e1tko do sprch\u00e1\u010de a samoz\u0159ejm\u011b oble\u010den\u00ed. Opravdu je to hodn\u011b v\u011bc\u00ed,\u201c popsal otec Tom\u00e1\u0161 s t\u00edm, \u017ee cestovat ve\u0159ejnou dopravou v tomto p\u0159\u00edpad\u011b nelze.<\/p>\n\n\n\n
Po pobytu v l\u00e1zn\u00edch je u Leont\u00fdnky viditeln\u00e9 nejv\u011bt\u0161\u00ed zlep\u0161en\u00ed, m\u00e1 prota\u017een\u00e9 a uvoln\u011bn\u00e9 svaly. \u201ePokroky jsou po mal\u00fdch kr\u016f\u010dc\u00edch, ale jsou,\u201c vypr\u00e1v\u00ed otec s t\u00edm, \u017ee z \u201ehadrov\u00e9 panenky\u201c je dnes sle\u010dna, kter\u00e1 dok\u00e1\u017ee s oporou chodit po byt\u011b. Hovo\u0159it o progn\u00f3ze je v\u0161ak t\u011b\u017ek\u00e9, jedn\u00e1 se o vz\u00e1cn\u00fd syndrom, kter\u00fd m\u00e1 u ka\u017ed\u00e9ho individu\u00e1ln\u00ed pr\u016fb\u011bh. \u201eNelze tuto nemoc ch\u00e1pat jako zlomenou nohu, kdy doktor rovnou pov\u00ed, \u017ee za p\u016fl roku bude v\u0161e v po\u0159\u00e1dku,\u201c vysv\u011btluj\u00ed oba rodi\u010de, sami velmi aktivn\u00ed lid\u00e9.<\/p>\n\n\n\n
Rodina je vd\u011b\u010dn\u00e1 za ka\u017edou darovanou korunu, moc si j\u00ed v\u00e1\u017e\u00ed a d\u011bkuj\u00ed v\u0161em d\u00e1rc\u016fm, kte\u0159\u00ed p\u0159isp\u011bj\u00ed, nejv\u011bt\u0161\u00ed pomoci se dost\u00e1v\u00e1 od lid\u00ed z okol\u00ed, bl\u00edzk\u00fdch a kamar\u00e1d\u016f. Do sb\u00edrky se zapojili sportovci z T\u0159eb\u00ed\u010de a tak\u00e9 STG Jihlava s charitativn\u00edm b\u011bhem. Rodina by uv\u00edtala podporu od v\u011bt\u0161\u00edho partnera, t\u0159eba firmy z regionu. Dostali p\u00e1r tip\u016f, koho oslovit, emaily do t\u011bchto firem ale velk\u00fd efekt nem\u011bly. \u201eJsme ochotni nab\u00eddnout prostor na aut\u011b pro loga sponzor\u016f, kte\u0159\u00ed pomohou vy\u0161\u0161\u00ed \u010d\u00e1stkou a budou se cht\u00edt touto formou zviditelnit,\u201c uva\u017euje nahlas rodina.<\/p>\n\n\n\n
Leont\u00fdnce Ramp\u00edrov\u00e9 je mo\u017en\u00e9 p\u0159isp\u011bt ve sb\u00edrce na webu znesn\u00e1ze (https:\/\/www.znesnaze21.cz\/sbirka\/auto-je-pro-leontynku-cesta-k-zivotu-s-rodinou-cil-uz-je-blizko), druhou mo\u017enost\u00ed je poslat pen\u00edze na \u00fa\u010det 1212020120\/5500 s variabiln\u00edm symbolem 3777.<\/p>\n\n\n\n
Maminka Lucie se star\u00e1 o Leont\u00fdky Instagram (https:\/\/www.instagram.com\/leontynky.cesta\/), kde je mo\u017eno vid\u011bt Leont\u00fdnky cestu.<\/p>\n\n\n\n
Martin Singr<\/p>\n\n\n\n
Jihlavsk\u00fd den\u00edk<\/p>\n\n\n\n
https:\/\/jihlavsky.denik.cz<\/a><\/p>\n","protected":false},"excerpt":{"rendered":" Ne\u0161\u0165astn\u00e1 mutace jedin\u00e9ho genu obr\u00e1tila naruby \u017eivot rodin\u011b Ramp\u00edrov\u00fdch. Jejich dcera Leont\u00fdnka brzy oslav\u00ed \u010dtrn\u00e1ct\u00e9 narozeniny, bojuje ale s handicapem. Situaci by uleh\u010dilo po\u0159\u00edzen\u00ed v\u011bt\u0161\u00edho […]<\/a><\/p>\n<\/div>","protected":false},"author":1,"featured_media":33374,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[9],"tags":[],"class_list":["post-55210","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\/55210","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=55210"}],"version-history":[{"count":0,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts\/55210\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/media\/33374"}],"wp:attachment":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=55210"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=55210"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=55210"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}