U-Antek uneminyaka engu-15 ubudala futhi unamaphupho ambalwa alula. Angathanda ukuya esikoleni futhi ahlangane nabangane. Uphefumule ngaphandle komshini wokuphefumula futhi uphume embhedeni ngezinyawo zakho. Amaphupho kanina uBarbara alula nakakhulu: “Kwanele uma ehlala phansi, enyakaza, edla okuthile, noma ebhala i-imeyili esebenzisa isandla sakhe sonke, hhayi nje isithupha sakhe.” Ithuba labo bobabili isidakamizwa esisha, ePoland… ngeke sibe khona.
I-Antek Ochapski ine-SMA1, uhlobo olunzima lwe-spinal muscular atrophy. Umuzwa wakhe kanye nokuthinta kwakhe akuphazamiseki, futhi ukukhula kwakhe kwengqondo nokuzwela kuvamile. Umfana uphothule esikoleni samabanga aphansi ngama-honours kanti i-average yebanga lesithathu yaba ngu-5,4. Manje ufunda endaweni yokuzivocavoca eKonin eyedwa ekhaya. Ubuyela esikoleni kanye ngesonto futhi uhlanganisa nekilasi. Unemisebenzi eminingi yangaphandle kwesikole: ukuvuselela, imihlangano nomelaphi wezinkulumo kanye nodokotela wezengqondo. Ngaphezu kwalokho, kukhona ukuvakashelwa kwamasonto onke ngudokotela nomhlengikazi. NgeMigqibelo kuphela ukhululeka, ezikhathini eziningi uya ebhayisikobho nonina nomngane wakhe u-Wojtek. Uthanda kakhulu amafilimu ezinganekwane zesayensi.
Ukunakekelwa okufanele komndeni kwabambezela ukuqhubeka kwesifo kodwa akuzange kusivimbe. Njengoba esho uNkk Barbara, balwa nyanga zonke. “I-Antek iphila ngesikweletu. Kodwa ukweleta ukuphila kwakhe kuye kuphela. Unomzwelo omangalisayo wokusinda, akayeki ukulwa kuze kube sekupheleni. Sithole ngalesi sifo lapho enezinyanga ezine ubudala, iningi leziguli lifa phakathi kweminyaka engu-2 no-4. U-Antek useneminyaka eyishumi nanhlanu ”.
Kuze kube muva nje, zonke izinhlobo ze-spinal muscular atrophy zaziphathwa ngokwelashwa okuyizimpawu kuphela, okuhlanganisa ukwelapha ngokomzimba, ukwelapha kwamathambo, nokuphefumula okusizayo. Kuleli hlobo kwavela ukuthi umuthi wokuqala osebenzayo wokubuyisela amazinga ajwayelekile weprotheyini ye-SMN, ukuntuleka kwayo okungaphansi kwe-SMA, yasungulwa. Mhlawumbe maduzane, iziguli ezigula kakhulu zizokwazi ukuvala umshini wokuphefumula, zihlale phansi, zisukume zodwa, ziye esikoleni noma emsebenzini. Ngokusho kochwepheshe, ukululama akubonakali kungenzeka. Okwamanje, imindeni yasePoland ene-spinal muscular atrophy icela uNdunankulu u-Beata Szydło ukuthi aqinisekise ukutholakala komuthi ngaphansi kokufinyelela kusenesikhathi kanye nembuyiselo. Ikilasi lika-Antek, abanye abafundi besikole esiphakathi nemindeni yabo bajoyine isenzo. Wonke umuntu uthumela izincwadi ezithinta inhliziyo ecela usizo. “Ngithanda ukumema uNdunankulu ekhaya. Mbonise ukuthi sisebenza kanjani nokuthi kungakanani kuncike ekubuyiselweni kwemali. Umuthi omusha usinike ithemba lokuthi likhona ithuba leziguli ze-SMA. Isifo kuze kube muva nje kwaba isigwebo. “
Umuthi ongahlehlisa umcabango wokufa okungagwemeki usuvele utholakala emazweni amaningi ase-Europe nasemhlabeni wonke ngaphansi kohlelo olubizwa nge-Early Access Programs (EAP). Umthetho wasePoland awusivumeli isisombululo esinjalo. Izinhlinzeko ezihlongozwe uMnyango Wezempilo azikuhlinzekeli ngezimali ukuvakasha kwezokwelapha okukodwa okudingekayo ukuze uthole umuthi, ingasaphathwa yezindleko zokuhlala esibhedlela.
I-SMA1 (i-spinal muscular atrophy) iwuhlobo lwe-acute spinal muscular atrophy. Izimpawu zokuqala zesifo, njengokuntuleka kwentuthuko ekuthuthukisweni kwezimoto, ukukhala okuthulile noma ukukhathala kalula lapho ukuncela nokugwinya, ngokuvamile kubonakala ngenyanga yesibili noma yesithathu yokuphila. Isimo sesiguli siba sibi usuku nosuku. Imisipha emaphethelweni, amaphaphu kanye nomminzo iba buthaka, okuholela ekuhlulekeni kokuphefumula nokulahlekelwa ikhono lokugwinya. Iziguli azilokothi zifinyelele ikhono lokuzihlalela zodwa. Ukubikezelwa kwesifo esiyingozi kubi, i-SMA iyabulala. Ingumbulali wezingane omkhulu kunabo bonke emhlabeni onqunywe ngokofuzo. I-Spinal muscular atrophy ikhula ngenxa yokukhubazeka kwezakhi zofuzo (ukuguqulwa) esakhini sofuzo esinesibopho sokubhala ikhodi i-SMN, iphrotheni ekhethekile ebalulekile ekusebenzeni kwama-motor neurons. Umuntu oyedwa kwabangama-35-40 unoguquko olunjalo ePoland. Uma bobabili abazali bengabathwali besici, kunengozi yokuthi ingane izoba ne-SMA. E-Poland, lesi sifo senzeka ngobuningi bokuzalwa komuntu oyedwa kwabangu-1-5000 futhi cishe u-7000: 1 kubantu.
PS
Silindele ukusabela kweHhovisi likaNdunankulu kanye noMnyango Wezempilo.