Kubovi chyb\u00ed \u010d\u00e1st mozku. A to celkem podstatn\u00e1. I kv\u016fli tomu l\u00e9ka\u0159i rodi\u010d\u016fm po jeho narozen\u00ed \u0159ekli, \u017ee se nedo\u017eije v\u00edce ne\u017e jednoho roku \u017eivota. Jemu je ale dnes t\u0159in\u00e1ct, a i p\u0159es \u010detn\u00e1 omezen\u00ed, je\u017e mu nemoc p\u0159in\u00e1\u0161\u00ed, u\u0161el u\u017e velk\u00fd kus cesty. Velmi vz\u00e1cnou diagn\u00f3zu s n\u00e1zvem TUBB3 E410K m\u00e1 Jakub Gury\u010da pravd\u011bpodobn\u011b jako jedin\u00fd v Evrop\u011b. Sh\u00e1n\u011bt finance na jeho l\u00e9\u010dbu pom\u00e1h\u00e1 cel\u00e1 rodina. Od lid\u00ed vyb\u00edraj\u00ed r\u016fzn\u00e9 druhy surovin, kter\u00e9 by jinak skon\u010dily v odpadu, a z\u00edsk\u00e1vaj\u00ed za n\u011b pen\u00edze.<\/p>\n\n\n\n
T\u0159in\u00e1ctilet\u00fd Jakub Gury\u010da bydl\u00ed se svou rodinou v Ro\u017enov\u011b pod Radho\u0161t\u011bm, kde nav\u0161t\u011bvuje \u0161est\u00fd ro\u010dn\u00edk speci\u00e1ln\u00ed \u0161koly. Po narozen\u00ed mu byl diagnostikov\u00e1n vz\u00e1cn\u00fd Toriello-Carey syndrom (pozd\u011bji se uk\u00e1zalo, \u017ee diagn\u00f3za nebyla p\u0159esn\u00e1, viz n\u00ed\u017ee, pozn. redakce), kter\u00fd zp\u016fsobuje krom\u011b obli\u010dejov\u00fdch anom\u00e1li\u00ed a hypotonie i r\u016fstovou a psychomotorickou retardaci. Chlapec nav\u00edc nem\u00e1 \u010d\u00e1st mozku, kter\u00e1 spojuje levou a pravou hemisf\u00e9ru.<\/p>\n\n\n\n
L\u00e9ka\u0159i po Jakubov\u011b narozen\u00ed jeho rodi\u010d\u016fm \u0159ekli, \u017ee se nedo\u017eije v\u00edce ne\u017e jednoho roku \u017eivota. Dnes je mu t\u0159in\u00e1ct let. Ale kv\u016fli sv\u00e9 nemoci m\u00e1 od narozen\u00ed probl\u00e9my s termoregulac\u00ed, skryt\u00fd roz\u0161t\u011bp patra, anom\u00e1lii hrtanu, chyb\u00ed mu mimika, m\u00e1 probl\u00e9my s j\u00eddlem a pit\u00edm, je hypotonick\u00fd a r\u016fstov\u011b ani psychomotoricky nikdy nebude jako jin\u00e9 d\u011bti. Nem\u00e1 \u010dich, chu\u0165, pot\u0159ebu sp\u00e1nku, \u0161patn\u011b d\u00fdch\u00e1, a to p\u0159edev\u0161\u00edm v noci, je alergik a podle maminky Ester Gury\u010dov\u00e9 si t\u00e9m\u011b\u0159 denn\u011b st\u011b\u017euje na bolesti cel\u00e9ho t\u011bla.<\/p>\n\n\n\n
Na prav\u00e9 oko Jakub v\u016fbec nevid\u00ed a v\u00ed\u010dko u lev\u00e9ho oka si mus\u00ed nadzved\u00e1vat, aby z\u00edskal v\u011bt\u0161\u00ed zorn\u00e9 pole. Operace v\u0161ak podle maminky nen\u00ed mo\u017en\u00e1, jeliko\u017e hroz\u00ed, \u017ee by Jakub oslepl.<\/p>\n\n\n\n
\u201eKuba tak\u00e9 v\u016fbec nemrk\u00e1. Mus\u00edme db\u00e1t na zv\u00fd\u0161enou hygienu rukou i o\u010d\u00ed. Ka\u017ed\u00e9 dv\u011b hodiny mu mus\u00edm kapat kapky. Zdrav\u00e9 oko mu po usnut\u00ed zav\u00edr\u00e1m, aby si ho nepo\u0161kodil nap\u0159\u00edklad o pol\u0161t\u00e1\u0159,\u201c \u0159\u00edk\u00e1 d\u00e1le o zdravotn\u00edm stavu sv\u00e9ho chlapce maminka Ester.<\/p>\n\n\n\n
Je\u0161t\u011b vz\u00e1cn\u011bj\u0161\u00ed syndrom<\/p>\n\n\n\n
V\u00fd\u010det Kubov\u00fdch probl\u00e9m\u016f by vydal na dlouh\u00fd seznam. V roce 2019 rodi\u010de nav\u00edc zjistili, \u017ee p\u016fvodn\u00ed diagn\u00f3za byla myln\u00e1, a \u017ee jejich syn trp\u00ed je\u0161t\u011b mnohem v\u00e1\u017en\u011bj\u0161\u00edm a vz\u00e1cn\u011bj\u0161\u00edm syndromem, ne\u017e se p\u016fvodn\u011b myslelo. Podle v\u0161eho je jedin\u00fdm v cel\u00e9 Evrop\u011b.<\/p>\n\n\n\n
\u201eV r\u00e1mci nov\u00e9ho genetick\u00e9ho vy\u0161et\u0159en\u00ed l\u00e9ka\u0159i vyu\u017eili nov\u00fdch metod. Bohu\u017eel v\u00fdsledky uk\u00e1zaly nep\u0159\u00edjemnou zpr\u00e1vu. Nov\u00e1 metoda p\u0159inesla novou diagn\u00f3zu, a to je\u0161t\u011b vz\u00e1cn\u011bj\u0161\u00ed syndrom TUBB3 E410K. Prvn\u00ed zm\u00ednky o tomto syndromu jsou z roku 2013 a jin\u00e9 pojmenov\u00e1n\u00ed pro n\u011bj zat\u00edm neexistuje,\u201c pokra\u010duje maminka Ester.<\/p>\n\n\n\n
Sama zjistila, \u017ee stejn\u00fdm syndromem trp\u00ed dva chlapci v Kalifornii. Tak\u00e9 na\u0161la \u010dty\u0159i d\u011bv\u010data, z nich\u017e jedno \u017eije v Ji\u017en\u00ed Koreji. Sna\u017e\u00ed se shroma\u017e\u010fovat i dal\u0161\u00ed informace, kter\u00fdch ov\u0161em zat\u00edm nen\u00ed mnoho.<\/p>\n\n\n\n
O onemocn\u011bn\u00ed hovo\u0159\u00ed i studie z roku 2020 s n\u00e1zvem Syndrom TUBB3 E410K: Kauzuistika a p\u0159ehled klinick\u00e9ho spektra mutac\u00ed TUBB3. \u201eGen TUBB3 E410K je zodpov\u011bdn\u00fd za vz\u00e1cnou poruchu klinicky charakterizovanou intelektu\u00e1ln\u00edm posti\u017een\u00edm, \u0161irokou \u0161k\u00e1lou neurologick\u00fdch abnormalit, psychomotorick\u00fdm zpo\u017ed\u011bn\u00edm \u010di probl\u00e9my s o\u010dima,\u201c uv\u00e1d\u00ed studie.<\/p>\n\n\n\n
Bez dohledu b\u00fdt nem\u016f\u017ee<\/p>\n\n\n\n
I p\u0159es \u010detn\u00e9 komplikace je Kuba kluk pln\u00fd energie. Rodi\u010de se mu sna\u017e\u00ed vym\u00fd\u0161let neust\u00e1le n\u011bjakou \u010dinnost, kter\u00e1 by ho zam\u011bstnala.<\/p>\n\n\n\n
\u201eMiluje hudbu, je\u017ed\u011bn\u00ed na kole, hran\u00ed na po\u010d\u00edta\u010di, fascinuj\u00ed ho reproduktory a obecn\u011b technick\u00e9 v\u011bci. Ve \u0161kole ho nejv\u00edce bav\u00ed angli\u010dtina a v\u00fdpo\u010detn\u00ed technika,\u201c mluv\u00ed o z\u00e1jmech chlapce maminka. O samot\u011b ho v\u0161ak rodi\u010de nechat nemohou. Mohl by si ubl\u00ed\u017eit.<\/p>\n\n\n\n
Jakub kv\u016fli sv\u00e9mu onemocn\u011bn\u00ed pravideln\u011b doch\u00e1z\u00ed ke \u010dtrn\u00e1cti specialist\u016fm na canisterapii, hippoterapii, chod\u00ed plavat, na kondi\u010dn\u00ed cvi\u010den\u00ed, logopedii, m\u00ed\u010dkov\u00e1n\u00ed, fyzioterapii, stimulaci zraku a dal\u0161\u00ed terapie v\u010detn\u011b delfinoterapie, kter\u00e1 mu velice pom\u00e1h\u00e1. Nav\u00edc m\u00e1 p\u0159\u00edznivce, kte\u0159\u00ed se staraj\u00ed, aby m\u011bl n\u011bjak\u00e9 dobroty pro sv\u016fj mlsn\u00fd jaz\u00fd\u010dek.<\/p>\n\n\n\n
I p\u0159esto, \u017ee oba rodi\u010de pracuj\u00ed a v p\u00e9\u010di o Kubu se st\u0159\u00eddaj\u00ed, jejich v\u00fdd\u011blky pot\u0159ebn\u00e9 terapie, asistenci a l\u00e9ky nepokryj\u00ed. Proto se sna\u017e\u00ed z\u00edsk\u00e1vat pen\u00edze, kde mohou.<\/p>\n\n\n\n
Pen\u00edze za vyhozen\u00e9 plechovky<\/p>\n\n\n\n
Krom\u011b klasick\u00e9 charity se v\u0161ak sna\u017e\u00ed p\u0159ilo\u017eit ruku k d\u00edlu a z\u00edsk\u00e1vat pen\u00edze i vlastn\u00edm p\u0159i\u010din\u011bn\u00edm. \u201eRodi\u010de se mus\u00ed zapojit, ne pouze natahovat ruku a prosit o pen\u00edze,\u201c je p\u0159esv\u011bd\u010den\u00e1 Jakubova maminka.<\/p>\n\n\n\n
Rozhodli se proto vyb\u00edrat od lid\u00ed materi\u00e1l, kter\u00fd by jinak skon\u010dil v popelnici. V sou\u010dasn\u00e9 chv\u00edli sb\u00edraj\u00ed hlin\u00edk v podob\u011b plechovek, alobal\u016f, v\u00ed\u010dek od jogurt\u016f \u010di vyho\u0159el\u00fdch \u010dajov\u00fdch sv\u00ed\u010dek, nefunk\u010dn\u00ed elektroniku \u010di z\u00e1tky od piva. Ve v\u00fdkupu druhotn\u00fdch surovin pak za materi\u00e1l z\u00edsk\u00e1vaj\u00ed pen\u00edze.<\/p>\n\n\n\n
\u201eV na\u0161em okol\u00ed m\u00e1me n\u011bkolik sb\u011brn\u00fdch m\u00edst, kter\u00e9 uv\u00e1d\u00edme i na na\u0161ich webov\u00fdch str\u00e1nk\u00e1ch Pomoc pro Kubu. Lid\u00e9 n\u00e1m na tato m\u00edsta nos\u00ed materi\u00e1l, kter\u00fd pak sv\u00e1\u017e\u00ed p\u0159edev\u0161\u00edm d\u011bde\u010dek. Plechovky n\u00e1sledn\u011b se\u0161lap\u00e1v\u00e1me a odv\u00e1\u017e\u00edme do sb\u011brn\u00e9ho dvora. V tomto n\u00e1m hodn\u011b pom\u00e1haj\u00ed d\u011bda Stanik s babi\u010dkou V\u011brkou,\u201c popisuje postup zpracov\u00e1v\u00e1n\u00ed odpadu maminka.<\/p>\n\n\n\n
M\u011bs\u00ed\u010dn\u011b takto z\u00edskaj\u00ed pr\u016fm\u011brn\u011b kolem 800 korun. Z\u00edskan\u00e9 pen\u00edze pak p\u0159epos\u00edlaj\u00ed rovnou na Kub\u016fv \u00fa\u010det pod z\u00e1\u0161titou Charity Vala\u0161sk\u00e9 Mezi\u0159\u00ed\u010d\u00ed. P\u0159isp\u011bt na n\u011bj lze v\u0161ak i p\u0159\u00edmo, a to jakoukoliv \u010d\u00e1stkou. Z pen\u011bz, kter\u00e9 rodina vyd\u011bl\u00e1 a z\u00edsk\u00e1 sb\u011brem odpadu, v\u0161echny pot\u0159ebn\u00e9 terapie nepokryje.<\/p>\n\n\n\n
\u010c\u00edslo \u00fa\u010dtu ve\u0159ejn\u00e9 sb\u00edrky pro Kubu: 3928413359\/0800.<\/p>\n\n\n\n
P\u0159\u00edpadn\u00fd d\u00e1rce si m\u016f\u017ee za\u017e\u00e1dat o odpo\u010det dan\u011b.<\/p>\n\n\n\n
Z rozhovoru mezi Kubou a maminkou zhruba p\u0159ed dv\u011bma roky:<\/p>\n\n\n\n
Kuba: \u201eMami, pro\u010d ta hol\u010di\u010dka je\u010d\u00ed?\u201c<\/p>\n\n\n\n
Maminka Ester: \u201eT\u011bm lidem se \u0159\u00edk\u00e1, \u017ee jsou posti\u017een\u00ed nebo hendikepovan\u00ed. N\u011bkdo nem\u00e1 t\u0159eba ruku, nohu, nebo je na voz\u00edku.\u201c<\/p>\n\n\n\n
Kuba: \u201eAle ona m\u00e1 ruku i nohu.\u201c<\/p>\n\n\n\n
Maminka Ester: \u201eAle m\u00e1 v hlav\u011b jinak poskl\u00e1dan\u00e9 dr\u00e1tky.\u201c<\/p>\n\n\n\n
Kuba: \u201eAha. Mami a j\u00e1 jsem taky posti\u017een\u00fd?\u201c<\/p>\n\n\n\n
Maminka Ester: \u201eAno, jsi. Zved\u00e1\u0161 si oko, m\u00e1\u0161 jin\u00e9 zuby\u2026\u201c<\/p>\n\n\n\n
Kuba: \u201eA miluje\u0161 m\u011b, kdy\u017e jsem posti\u017een\u00fd?\u201c<\/p>\n\n\n\n
Maminka Ester: \u201eMiluji t\u011b moc.\u201c<\/p>\n\n\n\n
Kuba: \u201eDob\u0159e. Jdu si jezdit s vl\u00e1\u010dkem.\u201c<\/p>\n\n\n\n
Kate\u0159ina N\u011bmcov\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":" Kubovi chyb\u00ed \u010d\u00e1st mozku. A to celkem podstatn\u00e1. I kv\u016fli tomu l\u00e9ka\u0159i rodi\u010d\u016fm po jeho narozen\u00ed \u0159ekli, \u017ee se nedo\u017eije v\u00edce ne\u017e jednoho roku \u017eivota. […]<\/a><\/p>\n<\/div>","protected":false},"author":1,"featured_media":19893,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[9],"tags":[],"class_list":["post-51893","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\/51893","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=51893"}],"version-history":[{"count":0,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts\/51893\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/media\/19893"}],"wp:attachment":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=51893"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=51893"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=51893"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}