He 15 makahiki ʻo Antek a he mau moeʻuhane maʻalahi kona. Makemake ʻo ia e hele i ke kula a hui i nā hoaaloha. Hanu ʻole me ka respirator a haʻalele i kahi moe ma kou mau wāwae ponoʻī. ʻOi aku ka maʻalahi o nā moeʻuhane a kona makuahine ʻo Barbara: "Ua lawa inā noho ʻo ia i lalo, neʻe, ʻai i kekahi mea, a kākau paha i leka uila me kona lima holoʻokoʻa, ʻaʻole ʻo kona manamana lima wale nō." ʻO kahi manawa no lāua ʻelua he lāʻau lapaʻau hou, aia ma Polani… ʻaʻole ia.
Loaʻa ʻo Antek Ochapski i ka SMA1, kahi ʻano ʻano o ka spinal muscular atrophy. ʻAʻole hoʻopilikia ʻia kona manaʻo a me kona hoʻopā ʻana, a he mea maʻamau kona ulu ʻana i ka naʻau a me ka naʻau. Ua puka ke keiki mai ke kula haʻahaʻa me ka hanohano a ʻo ka awelika helu ʻekolu he 5,4. I kēia manawa ke aʻo nei ʻo ia ma kahi hale haʻuki ma Konin ma ka home. Hoʻi hou ʻo ia i ke kula i hoʻokahi pule a hui pū me ka papa. He nui kāna mau hana extracurricular: hoʻoponopono hou, hui pū me kahi kauka haʻiʻōlelo a me kahi psychologist. Eia kekahi, he mau kipa pule e ke kauka a me ke kahu. ʻO ka Pōʻaono wale nō ʻo ia ka manuahi, hele pinepine ʻo ia i ka hale kiʻiʻoniʻoni me kona makuahine a me kona hoa aloha ʻo Wojtek. Nui kona makemake i nā kiʻiʻoniʻoni ʻepekema.
Hoʻopaneʻe ka mālama ʻohana kūpono i ka piʻi ʻana o ka maʻi akā ʻaʻole i hoʻōki. E like me kā Mrs. Barbara i ʻōlelo ai, ke hakakā nei lākou no kēlā me kēia mahina. “Ke ola nei ʻo Antek ma ka hōʻaiʻē. Akā, ʻaiʻē ʻo ia i kona ola iā ia iho. Loaʻa iā ia kahi manaʻo ola kupaianaha, ʻaʻole ia e haʻalele i ka hakakā a hiki i ka hopena. Ua ʻike mākou e pili ana i ka maʻi i kona piha ʻana i ʻehā mahina, make ka hapa nui o nā maʻi ma waena o nā makahiki 2 a me 4. He ʻumikūmālima mau makahiki ʻo Antek ".
A hiki i kēia manawa, ua mālama ʻia nā ʻano āpau o ka spinal muscular atrophy me ka hoʻomaʻamaʻa hōʻailona wale nō, me ka hoʻomaʻamaʻa kino, ka lāʻau orthopedic, a me ke kōkua ʻana i ka hanu. I kēia kauwela ua hoʻololi ʻia ka lāʻau lapaʻau mua e hoʻihoʻi i nā pae maʻamau o ka protein SMN, ka hemahema o lalo o SMA. Malia koke paha, hiki i nā maʻi maʻi koʻikoʻi ke hoʻopau i ka respirator, noho i lalo, kū i luna o lākou iho, hele i ke kula a i ʻole hana. Wahi a ka poʻe loea, ʻaʻole hiki ke hoʻōla. I kēia manawa, ke noi aku nei nā ʻohana Polani me ka spinal muscular atrophy i ke Kuhina Nui ʻo Beata Szydło e hōʻoiaʻiʻo i ka loaʻa ʻana o ka lāʻau lapaʻau ma lalo o ke komo mua ʻana a me ka uku hou ʻana. Ua hui pū ka papa o Antek, nā haumāna kula waena a me ko lākou mau ʻohana i ka hana. Hoʻouna nā kānaka a pau i nā leka pili e noi ana i ke kōkua. “Makemake au e kono aku i ke Kuhina Nui i ko makou home. E hōʻike iā ia pehea mākou e hana ai a me ka nui o ka hilinaʻi i ka hoihoi. Ua hāʻawi mai ka lāʻau lapaʻau hou iā mākou i ka manaʻolana he manawa kūpono no nā maʻi SMA. He maʻi a hiki i kēia manawa he ʻōlelo. “
ʻO ka lāʻau lapaʻau e hiki ke hoʻohuli i ke ʻano o ka make hiki ʻole ke loaʻa i nā ʻāina he nui ma ʻEulopa a me ka honua ma lalo o ka mea i kapa ʻia ʻo Early Access Programs (EAP). ʻAʻole ʻae ke kānāwai Polani i kēlā ʻano hoʻonā. ʻO nā mea i manaʻo ʻia e ke Kuhina Ola, ʻaʻole ia e hāʻawi i ke kālā no kahi kipa lapaʻau hoʻokahi e pono ai e loaʻa ka lāʻau lapaʻau, ʻaʻole hoʻi e haʻi i nā kumukūʻai o ka noho ʻana i kahi haukapila.
ʻO SMA1 (spinal muscular atrophy) kahi ʻano o ka atrophy muscular spinal acute. ʻO nā hōʻailona mua o ka maʻi, e like me ka nele o ka holomua i ka hoʻomohala ʻana i ka kaʻa, ka uē leo ʻole a i ʻole ka luhi maʻalahi i ka wā e omo ai a ʻai, ʻike pinepine ʻia i ka mahina ʻelua a ʻekolu paha o ke ola. Ke piʻi aʻe nei ke kūlana o ka mea maʻi i kēlā me kēia lā. Nawaliwali nā ʻiʻo o ka ʻāʻī, ka māmā a me ka esophagus, e alakaʻi ana i ka hāʻule ʻana o ka hanu a me ka nalowale o ka hiki ke ale. ʻAʻole loaʻa i nā maʻi ka hiki ke noho ma luna o lākou iho. ʻAʻole maikaʻi ka wānana no ka maʻi koʻikoʻi, pepehi ʻo SMA. ʻO ia ka mea pepehi keiki nui loa i hoʻoholo ʻia ma ka honua. Hoʻokumu ʻia ka atrophy ʻāʻī o ka iwi spinal ma muli o kahi kīnā genetic (mutation) i loko o ka gene kuleana no ka coding SMN, kahi protein kūikawā pono no ka hana ʻana o nā neurons motor. Hoʻokahi i loko o 35-40 poʻe he ʻano hoʻololi i Polani. Inā lawe nā mākua ʻelua i ke kīnā, hiki ke loaʻa ka SMA i ke keiki. Ma Polani, loaʻa ka maʻi me ka pinepine o 1 i 5000-7000 hānau a ma kahi o 1: 10000 i ka heluna kanaka.
PS
Ke kali nei mākou i ka pane a ke Kuhina Nui a me ke Kuhina Ola.