Lid\u00e9 s vrozenou spin\u00e1ln\u00ed svalovou atrofi\u00ed, p\u0159i n\u00ed\u017e ochabuj\u00ed svaly, u\u017e maj\u00ed k dispozici \u00fa\u010dinnou l\u00e9\u010dbu. Chyb\u00ed jim ale pen\u00edze na p\u00e9\u010di. Byla proto vyps\u00e1na transparentn\u00ed sb\u00edrka.<\/p>\n\n\n\n
Jedna\u010dty\u0159icetilet\u00e1 Veronika z Prahy je na elektrick\u00e9m voz\u00edku. Od sedmi let se nem\u016f\u017ee postavit na nohy, postupn\u011b j\u00ed zesl\u00e1bly i ruce. Odmala j\u00ed toti\u017e ochabuj\u00ed svaly. Trp\u00ed spin\u00e1ln\u00ed svalovou atrofi\u00ed. Tato vrozen\u00e1 choroba se projevuje postupn\u00fdm \u00fabytkem kostern\u00edho svalstva, pozd\u011bji i probl\u00e9my s dechem.<\/p>\n\n\n\n
Tehdy na ni neexistoval l\u00e9k. \u201eMimo rehabilitace jsme zkou\u0161eli i l\u00e9\u010ditele a bylink\u00e1\u0159e. Nepom\u00e1halo to,\u201c zavzpom\u00ednala Veronika, kter\u00e1 pot\u0159ebuje celodenn\u00ed asistenci. V\u011bt\u0161inou j\u00ed pom\u00e1h\u00e1 maminka, n\u00e1razov\u011b i dal\u0161\u00ed p\u0159\u00edbuzn\u00ed, p\u0159\u00e1tel\u00e9 \u010di placen\u00fd asistent.<\/p>\n\n\n\n
Je administrativn\u00ed pracovnic\u00ed a grafi\u010dkou v Asociaci muskul\u00e1rn\u00edch dystrofik\u016f. V pr\u00e1ci pot\u0159ebuje asistenci p\u0159i odemyk\u00e1n\u00ed dve\u0159\u00ed, otev\u0159en\u00ed notebooku, p\u0159\u00edprav\u011b j\u00eddla a pit\u00ed, s toaletou \u010di myt\u00edm rukou. Pomoc s b\u011b\u017en\u00fdmi \u010dinnostmi, polohov\u00e1n\u00edm \u010di protahov\u00e1n\u00edm pot\u0159ebuj\u00ed i dal\u0161\u00ed pacienti.<\/p>\n\n\n\n
Podle p\u0159edsedkyn\u011b Asociace muskul\u00e1rn\u00edch dystrofik\u016f Dony Jandov\u00e9 ale \u0159ada z nich nem\u00e1 ochotn\u00e9 bl\u00edzk\u00e9. \u201eZ pen\u011bz od poji\u0161\u0165ovny si mohou dovolit pomoc jen omezen\u011b. Asistent k nim tak doch\u00e1z\u00ed jen na dv\u011b hodiny r\u00e1no a dv\u011b ve\u010der,\u201c upozornila. Asociace proto vypsala sb\u00edrku, jej\u00ed\u017e v\u00fdt\u011b\u017eek pou\u017eije na zaplacen\u00ed dal\u0161\u00edch hodin asistence.<\/p>\n\n\n\n
Ve h\u0159e je i mo\u017en\u00e9 zaveden\u00ed p\u00e1t\u00e9ho stupn\u011b p\u0159\u00edsp\u011bvku na p\u00e9\u010di, kde by \u010d\u00e1stka byla upravena podle konkr\u00e9tn\u00ed pot\u0159eby. To by podle v\u00fdsledk\u016f ned\u00e1vn\u00e9 studie obecn\u011b prosp\u011b\u0161n\u00e9 spole\u010dnosti Asistence a Nadace Kooperativa pomohlo osmi a\u017e deseti tis\u00edc\u016fm lid\u00ed s nejv\u00e1\u017en\u011bj\u0161\u00edmi typy posti\u017een\u00ed. O t\u011bchto zm\u011bn\u00e1ch diskutuj\u00ed i minister\u0161t\u00ed \u00fa\u0159edn\u00edci.<\/p>\n\n\n\n
Pokrok v l\u00e9\u010db\u011b<\/p>\n\n\n\n
Pozitivn\u00ed je, \u017ee za posledn\u00edch p\u011bt let odborn\u00edci v\u00fdrazn\u011b pokro\u010dili v l\u00e9\u010db\u011b spin\u00e1ln\u00ed svalov\u00e9 atrofie. \u201ePokud ji zah\u00e1j\u00edme u d\u00edt\u011bte, u kter\u00e9ho se je\u0161t\u011b nesta\u010dily projevit prvn\u00ed p\u0159\u00edznaky, existuje velk\u00e1 pravd\u011bpodobnost, \u017ee bude \u017e\u00edt norm\u00e1ln\u00ed \u017eivot,\u201c uvedla prim\u00e1\u0159ka Kliniky d\u011btsk\u00e9 neurologie 2. l\u00e9ka\u0159sk\u00e9 fakulty Univerzity Karlovy a Fakultn\u00ed nemocnice Motol Jana Haberlov\u00e1.<\/p>\n\n\n\n
Nyn\u00ed prob\u00edh\u00e1 pilotn\u00ed projekt novorozeneck\u00e9ho screeningu, kdy l\u00e9ka\u0159i z kapky krve zji\u0161\u0165uj\u00ed p\u0159\u00edtomnost genetick\u00e9 poruchy prozrazuj\u00edc\u00ed nemoc. \u201eP\u0159edpokl\u00e1d\u00e1me, \u017ee od p\u0159\u00ed\u0161t\u00edho ledna se stane automatickou sou\u010d\u00e1st\u00ed standardn\u00edho programu novorozeneck\u00e9ho screeningu,\u201c podotkla Haberlov\u00e1.<\/p>\n\n\n\n
Pokud je nemoc u\u017e rozjet\u00e1, nasazen\u00e9 l\u00e9ky ji nevyl\u00e9\u010d\u00ed, um\u00ed ale zastavit jej\u00ed postup a zm\u00edrnit n\u00e1sledky. Veronika se k nov\u00e9 form\u011b l\u00e9\u010dby dostala jako jedna z prvn\u00edch. D\u00edky n\u00ed j\u00ed nyn\u00ed l\u00e9pe funguje svalstvo kr\u010dn\u00ed p\u00e1te\u0159e a c\u00edt\u00ed se m\u00e9n\u011b unaven\u00e1.<\/p>\n\n\n\n
V \u010cesku \u017eije asi 250 lid\u00ed se zm\u00edn\u011bn\u00fdm onemocn\u011bn\u00edm, z toho je p\u0159ibli\u017en\u011b polovina d\u011bt\u00ed. \u201eV drtiv\u00e9 v\u011bt\u0161in\u011b p\u0159\u00edpad\u016f se vrozen\u00e1 nemoc projev\u00ed hned v d\u011btstv\u00ed,\u201c \u0159ekl Den\u00edku prim\u00e1\u0159 Neurologick\u00e9 kliniky L\u00e9ka\u0159sk\u00e9 fakulty Masarykovy univerzity a Fakultn\u00ed nemocnice Brno Stanislav Voh\u00e1\u0148ka.<\/p>\n\n\n\n
Sb\u00edrka na asistenci nemocn\u00fdm<\/p>\n\n\n\n
Transparentn\u00ed \u00fa\u010det Asociace muskul\u00e1rn\u00edch dystrofik\u016f v \u010cR: 4045780379\/0800<\/p>\n\n\n\n
http:\/\/www.amd-mda.cz<\/a><\/p>\n\n\n\n Andrea Cerqueirov\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":" Lid\u00e9 s vrozenou spin\u00e1ln\u00ed svalovou atrofi\u00ed, p\u0159i n\u00ed\u017e ochabuj\u00ed svaly, u\u017e maj\u00ed k dispozici \u00fa\u010dinnou l\u00e9\u010dbu. Chyb\u00ed jim ale pen\u00edze na p\u00e9\u010di. Byla proto vyps\u00e1na […]<\/a><\/p>\n<\/div>","protected":false},"author":1,"featured_media":3579,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[9],"tags":[],"class_list":["post-41392","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\/41392","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=41392"}],"version-history":[{"count":0,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts\/41392\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/media\/3579"}],"wp:attachment":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=41392"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=41392"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=41392"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}