T\u00e9m\u011b\u0159 \u010dty\u0159let\u00fd Teodor \u017eije jen se svou maminkou v Praze. Od mali\u010dka trp\u00ed pomal\u00fdm v\u00fdvojem imunity, tr\u00e1pily ho mokvaj\u00edc\u00ed ekz\u00e9my, je multialergik, nemluv\u00ed a m\u00e1 epileptick\u00e9 z\u00e1chvaty. Na prvn\u00ed pohled by chlapci nikdo v\u00e1\u017en\u00e9 onemocn\u011bn\u00ed nep\u0159isuzoval. Pravdou ale je, \u017ee je na \u00farovni ro\u010dn\u00edho miminka, a to kv\u016fli mutaci v genu SYNGAP1. Vz\u00e1cn\u00e9 onemocn\u011bn\u00ed, kter\u00e9 postihuje v\u00fdvoj mozku, m\u00e1 v \u010cesk\u00e9 republice jen 5 d\u011bt\u00ed.<\/p>\n\n\n\n
S imunitou na tom nebyl Teodorek nikdy dob\u0159e. Pomal\u00fd v\u00fdvoj obranyschopnosti jeho t\u011bla mu ji\u017e v \u00fatl\u00e9m v\u011bku spole\u010dn\u011b se zlat\u00fdm stafylokokem zp\u016fsobil t\u011b\u017ek\u00e9 mokvaj\u00edc\u00ed ekz\u00e9my. Jak \u0159\u00edk\u00e1 jeho maminka Romana Barto\u0148kov\u00e1, bylo to zat\u00edm asi nejt\u011b\u017e\u0161\u00ed obdob\u00ed v jejich spole\u010dn\u00e9m \u017eivot\u011b. Cel\u00e9 dny se jen \u0161kr\u00e1bal.<\/p>\n\n\n\n
T\u00e9m\u011b\u0159 od p\u016fl roku \u017eivota proto musel sp\u00e1t chlapec s p\u0159iv\u00e1zan\u00fdma ru\u010di\u010dkama k post\u00fdlce. N\u011bkdy se ale ze sv\u00e1z\u00e1n\u00ed vymanil a obli\u010dej si roz\u0161kr\u00e1bal do krve. V t\u00e9 dob\u011b je\u0161t\u011b nikdo nev\u011bd\u011bl, \u017ee dostal do v\u00ednku vz\u00e1cn\u00e9 genetick\u00e9 onemocn\u011bn\u00ed SYNGAP1. D\u00edky n\u011bmu je dnes na \u00farovni ro\u010dn\u00edho miminka, m\u00e1 epileptick\u00e9 z\u00e1chvaty, nemluv\u00ed a nen\u00ed jist\u00e9, zda n\u011bkdy mluvit bude.<\/p>\n\n\n\n
\u201eNikdy m\u011b nenapadlo, \u017ee od n\u011bj v \u017eivot\u011b neusly\u0161\u00edm slovo m\u00e1ma. Teo mi ani nedok\u00e1\u017ee \u0159\u00edct, co ho tr\u00e1p\u00ed nebo bol\u00ed. Jen k\u0159i\u010d\u00ed. N\u011bkdy je to opravdu t\u011b\u017ek\u00e9,\u201c \u0159\u00edk\u00e1 v \u00favodu sb\u00edrky na Donio s n\u00e1zvem Kvalitn\u011bj\u0161\u00ed \u017eivot pro Teodorka Teova maminka Romana Barto\u0148kov\u00e1. Na podporu zdravotn\u00edho stavu sv\u00e9ho syna se sna\u017e\u00ed vybrat 800 tis\u00edc korun. Lid\u00e9 zat\u00edm p\u0159isp\u011bli \u010d\u00e1stkou bl\u00ed\u017e\u00edc\u00ed se ke 160 tis\u00edc\u016fm.<\/p>\n\n\n\n
Zkusili l\u00e9k na ekz\u00e9m a p\u0159i\u0161la epilepsie<\/p>\n\n\n\n
Mokvaj\u00edc\u00edm ekz\u00e9mem za\u010dal Teo trp\u011bt v p\u011bti m\u011bs\u00edc\u00edch \u017eivota a bojoval s n\u00edm asi rok a p\u016fl. Jak maminka sama podot\u00fdk\u00e1, vyzkou\u0161eli toho opravdu hodn\u011b, ale nic nezab\u00edralo a stav chlapce se sp\u00ed\u0161 zhor\u0161oval.<\/p>\n\n\n\n
\u201eTeo byl do \u0161esti m\u011bs\u00edc\u016f kojen\u00fd, j\u00e1 jsem dr\u017eela elimina\u010dn\u00ed dietu a nejedla t\u00e9m\u011b\u0159 nic, abychom zjistili, co ekz\u00e9m zp\u016fsobuje. Projevy se v\u0161ak st\u00e1le stup\u0148ovaly. P\u0159e\u0161li jsme proto na speci\u00e1ln\u00ed um\u011bl\u00e9 ml\u00e9ko, ale to Teovi vadilo. Zkusili jsme i tradi\u010dn\u00ed \u010d\u00ednskou medic\u00ednu, homeopatika, l\u00e9\u010ditele, netoxick\u00e9 maz\u00e1n\u00ed, kortikoidy, ale kv\u016fli propustn\u00e9mu st\u0159evu a velmi n\u00edzk\u00e9 imunit\u011b se stav sp\u00ed\u0161 zhor\u0161oval,\u201c \u0159\u00edk\u00e1 maminka o postupu, kter\u00fd s pomoc\u00ed l\u00e9ka\u0159\u016f volila<\/p>\n\n\n\n
Zmi\u0148uje tak\u00e9, \u017ee stav imunity i ekz\u00e9mu se v\u00fdrazn\u011b zhor\u0161il i po prod\u011bl\u00e1n\u00ed bezp\u0159\u00edznakov\u00e9ho covidu.<\/p>\n\n\n\n
Jako posledn\u00ed mo\u017enost pak zkusila p\u0159edepsan\u00fd l\u00e9k cyklosporin, kter\u00fd Teovi sice pomohl dostat ekz\u00e9m pod kontrolu, ale s nejv\u011bt\u0161\u00ed pravd\u011bpodobnost\u00ed mu zp\u016fsobil epileptick\u00e9 z\u00e1chvaty. T\u011bmi trp\u00ed dodnes.<\/p>\n\n\n\n
\u201eTeovi se epilepsie spustila nejsp\u00ed\u0161 po l\u00e9ku cyklosporin (l\u00e9k potla\u010duj\u00edc\u00ed imunitu, pozn. red.). Ten jsme mu pod\u00e1vali v dob\u011b, kdy na tom byl s ekz\u00e9mem nejh\u016f\u0159. Jeho nervov\u00fd syst\u00e9m byl ale tenkr\u00e1t ji\u017e naru\u0161en\u00fd, co\u017e v t\u00e9 dob\u011b bohu\u017eel nikdo nev\u011bd\u011bl. Po t\u0159ech t\u00fddnech od prvn\u00edho pod\u00e1n\u00ed l\u00e9ku za\u010dal Teo padat na obli\u010dej. Na nejt\u011b\u017e\u0161\u00ed ekz\u00e9m mu l\u00e9k pomohl, ale s t\u011b\u017ek\u00fdmi n\u00e1sledky. Kdybych to tu\u0161ila, rozhodla bych se jinak. \u010cas ale nevr\u00e1t\u00edm,\u201c \u0159\u00edk\u00e1 Teova maminka, kter\u00e1 na syna z\u016fstala sama.<\/p>\n\n\n\n
O nemoci Syngap1 se v \u010cR moc nev\u00ed<\/p>\n\n\n\n
Po prvn\u00edm z\u00e1chvatu n\u00e1sledovalo 7 t\u00fddn\u016f v motolsk\u00e9 nemocnici, kdy l\u00e9ka\u0159i prov\u00e1d\u011bli Teovi r\u016fzn\u00e1 vy\u0161et\u0159en\u00ed v\u010detn\u011b genetiky. Na v\u00fdsledky si v\u0161ak maminka musela po\u010dkat rok a sedm m\u011bs\u00edc\u016f. Mezit\u00edm bral ale Teo bohu\u017eel dal\u0161\u00ed l\u00e9ky, pro kter\u00e9 je onemocn\u011bn\u00ed Syngap1 kontraindikac\u00ed.<\/p>\n\n\n\n
\u201eTeo m\u011bl z nemocnice nastaven\u00e1 antiepileptika Frisum, ve kter\u00fdch je \u00fa\u010dinnou l\u00e1tkou benzodiazepin. Tento l\u00e9k v\u0161ak nen\u00ed pro jeho onemocn\u011bn\u00ed v\u016fbec vhodn\u00fd. P\u0159es rok byl d\u00edky n\u011bmu hodn\u011b utlumen\u00fd, a tak trochu mimo. Od t\u00e9 doby, co l\u00e9k vysadil, je mnohem vn\u00edmav\u011bj\u0161\u00ed a \u010dilej\u0161\u00ed,\u201c \u0159\u00edk\u00e1 Teova maminka.<\/p>\n\n\n\n
L\u00e9ka\u0159e ov\u0161em nevin\u00ed za \u0161patn\u00e9 rozhodnut\u00ed. Ch\u00e1pe, \u017ee je onemocn\u011bn\u00ed jej\u00edho syna natolik vz\u00e1cn\u00e9, \u017ee je t\u011b\u017ek\u00e9 ho v\u016fbec odhalit.<\/p>\n\n\n\n
\u201eVzhledem k tomu, \u017ee u n\u00e1s \u017eije dle m\u00fdch informac\u00ed pouze 5 osob s t\u00edmto onemocn\u011bn\u00edm v\u010detn\u011b Teodorka, nikdo v\u00e1m ani p\u0159esn\u011b ne\u0159ekne, jak se bude jeho stav d\u00e1le vyv\u00edjet. Ani jak\u00e1 zlep\u0161en\u00ed lze o\u010dek\u00e1vat,\u201c pokra\u010duje Teova maminka.<\/p>\n\n\n\n
Ekz\u00e9m stabilizovala a\u017e strava<\/p>\n\n\n\n
Jak se pozd\u011bji zjistilo, ekz\u00e9m pomohla dostat pod kontrolu hlavn\u011b \u00faprava j\u00eddeln\u00ed\u010dku. Prvn\u00ed dva roky mohl j\u00edst Teo jen p\u011bt potravinov\u00fdch druh\u016f. V\u016fbec nem\u016f\u017ee ml\u00e9\u010dn\u00e9 v\u00fdrobky, vejce, o\u0159echy, s\u00f3ju, hov\u011bz\u00ed a ku\u0159ec\u00ed maso, ani lepek. Vad\u00ed mu ale i n\u011bkter\u00e9 v\u00fdpary z potravin \u010di r\u016fzn\u00e9 druhy kvetouc\u00edch strom\u016f. Ekz\u00e9m na obli\u010deji se pak ihned zase objev\u00ed, \u0161patn\u011b se mu d\u00fdch\u00e1 a v\u0161e ho sv\u011bd\u00ed. Jednou kv\u016fli v\u00fdpar\u016fm ze s\u00fdra museli volat dokonce z\u00e1chrannou slu\u017ebu, jeliko\u017e se za\u010dal Teo dusit.<\/p>\n\n\n\n
\u201eS ekz\u00e9mem n\u00e1m nejv\u00edce pomohla v\u00fd\u017eivov\u00e1 poradkyn\u011b, kter\u00e1 se u syna zam\u011b\u0159ila na zahojen\u00ed st\u0159eva pomoc\u00ed autoimunitn\u00edho protokolu (\u00faprava stravy takov\u00fdm zp\u016fsobem, aby regulovala imunitn\u00ed syst\u00e9m a p\u0159estala napadat vlastn\u00ed tk\u00e1n\u011b, pozn. red.) a kvalitn\u00edch spr\u00e1vn\u011b zvolen\u00fdch dopl\u0148k\u016f. Sama bych to nikdy nezvl\u00e1dla. Ekz\u00e9m je jedna velk\u00e1 alchymie a n\u00e1vod\u016f na uzdraven\u00ed je tolik, \u017ee se v tom laik sp\u00ed\u0161 ztrat\u00ed,\u201c \u0159\u00edk\u00e1 maminka, kter\u00e1 i dnes m\u016f\u017ee sv\u00e9mu synovi nab\u00eddnout jen velmi omezen\u00fd j\u00eddeln\u00ed\u010dek.<\/p>\n\n\n\n
D\u00edky n\u011bmu m\u00e1 v\u0161ak Teo ekz\u00e9m ji\u017e relativn\u011b stabilizovan\u00fd. Samoz\u0159ejm\u011b v\u0161ak pr\u00fd z\u00e1le\u017e\u00ed na ro\u010dn\u00edm obdob\u00ed a p\u0159ij\u00edman\u00e9 strav\u011b.<\/p>\n\n\n\n
\u201eNyn\u00ed Tea tr\u00e1p\u00ed p\u0159edev\u0161\u00edm multialergie. M\u00e1 velmi omezen\u00fd j\u00eddeln\u00ed\u010dek. Mus\u00edme b\u00fdt velmi opatrn\u00ed i my, co jsme s n\u00edm v kontaktu. Nem\u016f\u017ee dostat ani pusu \u201eod ml\u00e9ka\u201c, to mu pak hroz\u00ed anafylaktick\u00fd \u0161ok a selh\u00e1n\u00ed organismu. Po ml\u00e9\u010dn\u00fdch v\u00fdrobc\u00edch, o\u0159ech\u00e1ch i vaj\u00ed\u010dk\u00e1ch si mus\u00edm v\u017edy um\u00fdt \u00fasta. U\u017e jsme si na to ale v\u0161ichni zvykli,\u201c popisuje nebezpe\u010d\u00ed b\u011b\u017en\u00e9ho kontaktu se sv\u00fdm synem Romana Barto\u0148kov\u00e1.<\/p>\n\n\n\n
D\u00e1le v\u0161ak Teo bojuje s epilepsi\u00ed, na kterou zkou\u0161\u00ed nov\u00e9 l\u00e9ky, ale i s t\u00edm, \u017ee se nen\u00ed schopen verb\u00e1ln\u011b vyjad\u0159ovat.<\/p>\n\n\n\n
Terapie mal\u00e9ho Tea posouvaj\u00ed kup\u0159edu<\/p>\n\n\n\n
Teo tak\u00e9 kv\u016fli onemocn\u011bn\u00ed neudr\u017e\u00ed t\u00e9m\u011b\u0159 nic v ruk\u00e1ch, je hypotonick\u00fd (m\u00e1 oslaben\u00e9 svalstvo, pozn. red.), nedok\u00e1\u017ee chodit, ani se bez opory postavit, nemluv\u00ed, nekou\u0161e pevnou stravu a nen\u00ed schopen t\u00e9m\u011b\u0159 nic zvl\u00e1dat s\u00e1m.<\/p>\n\n\n\n
\u201eZda bude Teodorek n\u011bkdy mluvit, nedok\u00e1\u017eu \u0159\u00edct. V\u00edm, \u017ee n\u011bkter\u00e9 d\u011bti s diagn\u00f3zou Syngap1 \u0159eknou i p\u00e1r slov. Ka\u017ed\u00e9 d\u00edt\u011b to m\u00e1 ale jinak. D\u016fle\u017eit\u00e9 je, \u017ee d\u011bl\u00e1 Teo d\u00edky terapi\u00edm pokroky. Onemocn\u011bn\u00ed, kter\u00e9 m\u00e1, nav\u00edc nen\u00ed degenerativn\u00ed. To znamen\u00e1, \u017ee nedoch\u00e1z\u00ed ke ztr\u00e1t\u011b dovednost\u00ed, kter\u00e9 si osvoj\u00ed. Co se nau\u010d\u00ed, si m\u016f\u017ee zapamatovat. Jde to ale pomalu,\u201c konstatuje maminka.<\/p>\n\n\n\n
Jeliko\u017e je v\u0161ak na syna sama a stala se pe\u010duj\u00edc\u00ed osobou, je prakticky bez p\u0159\u00edjm\u016f. Rozhodla se proto poprosit o pomoc pro Teodorka prost\u0159ednictv\u00edm sb\u00edrky na Donio. Vybran\u00e9 pen\u00edze pou\u017eije na uhrazen\u00ed rehabilitac\u00ed, terapi\u00ed, rehabilita\u010dn\u00edch pom\u016fcek, logopedick\u00fdch pom\u016fcek, inhal\u00e1toru a dal\u0161\u00edch pom\u016fcek, kter\u00e9 nehrad\u00ed zdravotn\u00ed poji\u0161\u0165ovna.<\/p>\n\n\n\n
Maminka ale usiluje i o to, aby se o t\u00e9to, ale i jin\u00fdch genetick\u00fdch nemocech v\u00edce mluvilo. N\u011bkdy toti\u017e dle jej\u00edch slov nen\u00ed zdravotn\u00ed probl\u00e9m na prvn\u00ed pohled patrn\u00fd a reakce okol\u00ed b\u00fdv\u00e1 velmi nevhodn\u00e1 a bolestiv\u00e1.<\/p>\n\n\n\n
\u201eLid\u00e9 si \u010dasto mysl\u00ed, \u017ee je d\u00edt\u011b rozmazlen\u00e9 a matka nezvl\u00e1d\u00e1 v\u00fdchovu. Teodorek nap\u0159\u00edklad k\u0159i\u010d\u00ed, co\u017e je ale jeho vyjad\u0159ovac\u00ed projev m\u00edsto mluven\u00ed. K\u0159i\u010d\u00ed ale p\u0159edev\u0161\u00edm radost\u00ed,\u201c \u0159\u00edk\u00e1 maminka, kter\u00e9 se bohu\u017eel ne jednou stalo, \u017ee Teodorka n\u011bkdo ok\u0159ikl, nebo se na ni otr\u00e1ven\u011b pod\u00edval.<\/p>\n\n\n\n
\u201ePoj\u010fme k sob\u011b, a p\u0159edev\u0161\u00edm k d\u011btem, b\u00fdt ohledupln\u011bj\u0161\u00ed a vn\u00edmav\u011bj\u0161\u00ed. Nikdy nev\u00edte, pro\u010d to dan\u00e9 d\u00edt\u011b d\u011bl\u00e1. Nesu\u010fte. T\u0159eba je tak\u00e9 tak v\u00e1\u017en\u011b nemocn\u00e9 jako Teo,\u201c pros\u00ed v z\u00e1v\u011bru Teodorkova maminka Romana Barto\u0148kov\u00e1.<\/p>\n\n\n\n
SYNGAP1<\/p>\n\n\n\n
Vz\u00e1cn\u00e1 genetick\u00e1 porucha zp\u016fsoben\u00e1 mutac\u00ed genu SYNGAP1 postihuje v\u00fdvoj mozku. \u201eTento gen hraje d\u016fle\u017eitou roli v komunikaci neuron\u016f. Bez jeho spr\u00e1vn\u00e9ho fungov\u00e1n\u00ed je efektivita vz\u00e1jemn\u00e9 komunikace zt\u00ed\u017eena a doch\u00e1z\u00ed k mnoha neurologick\u00fdm probl\u00e9m\u016fm. Pat\u0159\u00ed mezi n\u011b hypotonie, ment\u00e1ln\u00ed posti\u017een\u00ed, opo\u017ed\u011bn\u00ed v\u00fdvoje, epilepsie, porucha smyslov\u00e9ho zpracov\u00e1n\u00ed, opo\u017ed\u011bn\u00fd v\u00fdvoj hrub\u00e9 i jemn\u00e9 motoriky, porucha \u0159e\u010di, chov\u00e1n\u00ed i autistick\u00e9ho spektra,\u201c vysv\u011btluje zahrani\u010dn\u00ed v\u00fdzkumn\u00fd fond SynGAP. Podle n\u011bj je ve sv\u011bt\u011b onemocn\u011bn\u00ed diagnostikov\u00e1no u 1 454 pacient\u016f.<\/p>\n\n\n\n
Kate\u0159ina N\u011bmcov\u00e1<\/p>\n\n\n\n
Olomouck\u00fd den\u00edk<\/p>\n\n\n\n
https:\/\/olomoucky.denik.cz<\/a><\/p>\n","protected":false},"excerpt":{"rendered":" T\u00e9m\u011b\u0159 \u010dty\u0159let\u00fd Teodor \u017eije jen se svou maminkou v Praze. Od mali\u010dka trp\u00ed pomal\u00fdm v\u00fdvojem imunity, tr\u00e1pily ho mokvaj\u00edc\u00ed ekz\u00e9my, je multialergik, nemluv\u00ed a m\u00e1 […]<\/a><\/p>\n<\/div>","protected":false},"author":1,"featured_media":41873,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[9],"tags":[],"class_list":["post-51149","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\/51149","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=51149"}],"version-history":[{"count":0,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts\/51149\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/media\/41873"}],"wp:attachment":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=51149"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=51149"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=51149"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}