Antek ali ndi zaka 15 ndipo ali ndi maloto osavuta. Angakonde kupita kusukulu ndikukumana ndi anzake. Pumirani popanda chopumira ndikudzuka pabedi ndi mapazi anu. Maloto a amayi ake a Barbara ndi osavuta kumva: “Zimakhala zokwanira ngati akhala pansi, kusuntha, kudya chinachake, kapena kulemba imelo ndi dzanja lake lonse, osati chala chake chachikulu.” A mwayi onse a iwo ndi mankhwala atsopano, amene mu Poland… sadzakhala.
Antek Ochapski ali ndi SMA1, mawonekedwe owopsa a spinal muscular atrophy. Kumverera kwake ndi kukhudza kwake sikusokonezedwa, ndipo kakulidwe kake kachidziwitso ndi kaganizidwe kake n'kwachibadwa. Mnyamatayo anamaliza sukulu ya pulaimale ndi ulemu ndipo avereji ya sitandade yachitatu inali 5,4. Tsopano akuphunzira pa malo ochitira masewera olimbitsa thupi ku Konin payekha payekha kunyumba. Amabwerera kusukulu kamodzi pa sabata ndipo amalumikizana ndi kalasi. Ali ndi ntchito zambiri zakunja: kukonzanso, misonkhano ndi wolankhula mawu komanso katswiri wa zamaganizo. Kuphatikiza apo, pamakhala maulendo a mlungu ndi mlungu ndi dokotala ndi namwino. Loweruka lokha ndi lomasuka, nthawi zambiri amapita ku kanema ndi amayi ake ndi bwenzi lake Wojtek. Amakonda kwambiri mafilimu opeka a sayansi.
Chisamaliro choyenera chabanja chinachedwetsa kufalikira kwa matendawa koma sikunaletse. Monga momwe Mayi Barbara akunenera, iwo akumenyana mwezi uliwonse. "Antek amakhala ndi ngongole. Koma ali ndi ngongole ya moyo wake kwa iye yekha. Ali ndi chibadwa chodabwitsa chopulumuka, samasiya kumenyana mpaka kumapeto. Tinapeza za matendawa ali ndi miyezi inayi, ambiri mwa odwala amafa pakati pa zaka za 2 ndi 4. Antek ali kale khumi ndi asanu ".
Mpaka posachedwapa, mitundu yonse ya atrophy ya msana ya msana inkachitidwa ndi chithandizo cha zizindikiro zokha, kuphatikizapo masewero olimbitsa thupi, mankhwala a mafupa, ndi kuthandizira kupuma. M'chilimwechi zidapezeka kuti mankhwala oyamba obwezeretsanso puloteni ya SMN, kuchepa kwake komwe kumayambitsa SMA, kudapangidwa. Mwina posachedwa, odwala omwe akudwala kwambiri adzatha kuchotsa chopumira, kukhala pansi, kuyimirira okha, kupita kusukulu kapena kuntchito. Malinga ndi akatswiri, kuchira sikukuwoneka kotheka. Pakadali pano, mabanja aku Poland omwe ali ndi vuto la spinal muscular atrophy akupempha Prime Minister Beata Szydło kuti atsimikizire kupezeka kwa mankhwalawa pofika mwachangu komanso kubwezeredwa. Kalasi ya Antek, ophunzira ena akusukulu yapakati ndi mabanja awo adalowa nawo. Aliyense amatumiza makalata okhudza mtima kupempha thandizo. "Ndikufuna kuitanira Prime Minister kunyumba kwathu. Muwonetseni momwe timagwirira ntchito komanso kuchuluka kwake kumadalira kubwezeredwa. Mankhwala atsopanowa atipatsa chiyembekezo kuti pali mwayi kwa odwala a SMA. Matenda omwe mpaka posachedwapa anali chilango. “
Mankhwala omwe angathe kuthetseratu imfa yosapeŵeka akupezeka kale m'mayiko ambiri ku Ulaya ndi padziko lonse lapansi pansi pa zomwe zimatchedwa Early Access Programs (EAP). Lamulo la ku Poland sililola njira yotereyi. Zomwe zaperekedwa ndi Unduna wa Zaumoyo sizipereka ndalama zothandizira ulendo umodzi wachipatala wofunikira kuti akalandire mankhwalawo, osatchulanso ndalama zokhala m'chipatala.
SMA1 (spinal muscular atrophy) ndi mtundu wa acute spinal muscular atrophy. Zizindikiro zoyamba za matendawa, monga kusowa kwa chitukuko cha galimoto, kulira mwakachetechete kapena kutopa kosavuta pamene akuyamwa ndi kumeza, nthawi zambiri amawonekera mwezi wachiwiri kapena wachitatu wa moyo. Mkhalidwe wa wodwalayo ukuipiraipira tsiku ndi tsiku. Minofu ya m'malekezero, m'mapapo ndi kum'mero imafooka, zomwe zimachititsa kuti kupuma kulephera komanso kulephera kumeza. Odwala sakwanitsa kukhala pawokha. Kudziwikiratu kwa matenda owopsa ndi osauka, SMA imapha. Ndiwokupha ana kwakukulu kwambiri padziko lonse lapansi. Spinal muscular atrophy imayamba chifukwa cha vuto la majini (mutation) mu jini yomwe imayang'anira zolemba za SMN, puloteni yapadera yofunikira kuti ma neuron azigwira ntchito. Mmodzi mwa anthu 35-40 ali ndi kusintha kotereku ku Poland. Ngati makolo onse ndi onyamula chilema, pali chiopsezo kuti mwanayo adzakhala ndi SMA. Ku Poland, matendawa amapezeka pafupipafupi 1 mwa 5000-7000 obadwa komanso pafupifupi 1: 10000 mwa anthu.
PS
Tikuyembekezera zomwe ofesi ya Prime Minister ndi Unduna wa Zaumoyo.