07/02/2022
Hana hou ʻia ma ka hola 6:38 pm
Uē ʻo Soraya no ke kelepona akā ʻaʻohe mea kupaianaha. ʻO kāna kaikamahine, ʻo Patricia, loaʻa iā Rett syndrome, kahi maʻi kakaʻikahi i hoʻokumu ʻia e ka mutation i ka MECP2 gene a, ma waena o nā mea ʻē aʻe, e pale iā ia mai ka ʻōlelo ʻana. ʻO ia ke kumu o kāna ala e hōʻike ai iā ia iho ke loaʻa ʻole kāna mea kelepona uila, ʻo ia nā leo i hiki ʻole ke hoʻomaopopo ʻia no ke koena.
Ua hoʻomaopopo naʻe kona makuahine iā ia. "I kēia manawa ke pāʻani nei au iā ia, ʻaʻole ʻo ia e ʻike i nā kaha kiʻi a ʻo ia ke ala e hōʻike ai i ke kuʻikahi," wehewehe ʻo ia me ka maʻamau kupaianaha ʻoiai ʻo kāna kaikamahine kekahi o nā kaikamahine 10.000. ʻO ka maʻi pili X, i hoʻokumu ʻia ma Patricia, 7 mau makahiki, nā comorbidities e like me nā maʻi hiamoe, paʻakikī-e-control epilepsy, hanu a me ka digestive maʻi, ataxia a me hypotonia, a ʻoiai nā mea a pau e pili ana, loaʻa iā Soraya ka manaʻolana.
A ʻoiai he maʻi kakaʻikahi ia, ua nui loa. Ua manaʻo ʻia aia he 3.000 mau ʻohana ma Sepania wale nō, aia ke kiʻekiʻe kiʻekiʻe mai ka hoʻonui ʻana o ka noiʻi. ʻOiaʻiʻo, ua kau nā maka a me nā manaʻolana ma ʻAmelika, kahi e hana ʻia ai nā "gene therapies i mea maoli" hiki ke ho'ōla i ka maʻi.
"Ma Sepania he noiʻi, akā ua hoʻolaʻa ʻia no ka hoʻohaʻahaʻa ʻana i ka hopena o ka maʻi, i ka hoʻomaikaʻi ʻana i ka maikaʻi o ke ola a i ʻole ka lohe ʻana i ke ʻano o ka hana ʻana o ke ʻano, akā e hele mai ka lāʻau mai ka noiʻi ʻAmelika," wahi a Soraya. ʻO kēia ka mea e hopohopo ai ka makuahine i ke kumukūʻai kiʻekiʻe e loaʻa iā ia ke ʻae ʻia kekahi o nā lāʻau e kali nei. "'Ōlelo lākou i loko oʻelua mau makahiki aʻekolu paha e manaʻo lākou e loaʻa iā ia ma United States. Hoʻoweliweli iaʻu pehea e hiki ai i ʻaneʻi no ke kumu kūʻai ".
Nui nā hoʻokolokolo ākea ma laila a ʻo ka mea holomua loa i kēia manawa he hoʻokolohua lapaʻau me nā wahine makua me Rett ma Kanada. "E hele makapō ana mākou," wahi a Soraya me ka akahele, akā ʻike ʻo ia "aia kekahi ʻāpana o ka maʻi e hiki ke hoʻohuli ʻia. ʻAe, inā ua hana ʻoe i kahi scoliosis ʻaʻole e hoʻoponopono ". Me ka manaolana ma keia hookolokolo ana, o ka lakou mea e hoao nei e hana me Patricia, aole e holomua ka ma'i a hiki i ka manawa e ola'i, e noho ana ke kaikamahine uuku "ma na kulana maikai loa a pela e emi ai ke kumu kuai no ka ola ana. " wehewehe ʻo ia.
he ola kino
ʻOiai e hiki mai ana ka lāʻau i kali lōʻihi ʻia, ola ʻo Patricia a me kona ʻohana i kahi hana maʻamau i hoʻopaʻa ʻia e kona mau kino kīnā. "Ua loaʻa iaʻu ka maʻamau a ʻaʻole wau i ʻike, akā pili maoli ia iā mākou a pau," wahi a ka makuahine.
ʻOiai ma mua o ka ʻike ʻana ua loli kona ola. I ka wā e hānau ai he pēpē, ua ʻike nā mākua o Patricia ua ʻoi aku ka lohi o kona ulu ʻana ma mua o ka maʻamau, akā i ka pediatrician ua haʻi ʻia lākou "he honua kēlā me kēia keiki." ʻAʻole hauʻoli i kēlā, hele ʻo Soraya a me kāna kāne i kahi pediatrician ma Barcelona nāna i ʻike i kahi ʻano e hōʻino ana i ka paʻa. “Ua ʻike ʻo ia e nānā ana ʻo ia i ke kaupaku a hoʻolei i kona poʻo i hope. He hōʻailona hōʻailona kēlā a ma muli o ia mea ua hana ʻo ia i kekahi mau hoʻokolohua a kuhikuhi iā mākou i ka neurology a me ka mālama mua, "hoʻomanaʻo ʻo ia. No laila he 18 mahina ke kaikamahine liʻiliʻi.
I ka wā o ka mākaʻikaʻi ʻana i ke kauka, ua hōʻoia lākou "ua lohi loa ka wikiwiki o ka ulu ʻana", akā ʻaʻole naʻe lākou i ʻike i ka mea e hana nei iā ia no ka mea ua pololei nā hoʻokolohua genetic. Ua ʻike ʻo ia i nā loli i loko o kahi MRI a ua ʻike ʻia ʻaʻole ʻo ia e ʻōlelo. ʻO ia ka manawa i hoʻomaka ai ka paʻi ʻana i kēia manawa i ka nele o ka mana ma kona mau lima.
ʻAʻole ʻōlelo ʻo Patricia i ʻehā mau huaʻōlelo a ʻaʻole hoʻi i hoʻomaka e hele i ka wā ʻelua o kona mau makahiki, ua hoʻi hou ʻo ia. "ʻAʻole hiki iā ia ke ʻai ʻo ia wale nō a nalowale nā mākau kaʻa," wahi a Soraya. Ma hope o ka ho'āʻo Rett maikaʻi ʻole, ua koi ka ʻohana a me nā kauka i ka hana ʻana i ka lua o ka hopena maikaʻi loa no Rett maʻamau.
"ʻOiai ua kānalua mākou, i ka wā mua he mea haʻalulu a ʻo ka mea mua āu e hana ai ʻo ka ʻimi ʻana i nā ʻohana e hele ana i ka mea like. Ma kēia, ua kōkua nui nā ʻoihana pūnaewele iaʻu, "wahi a Soraya, nāna i hoʻolaha i kāna mau lā i kēlā me kēia lā ma o ka moʻolelo Instagram @elmundodepatrirett.
No Soraya, ua haʻi ʻia ka mea ʻino loa i loaʻa kāna kaikamahine i kahi maʻi hiki ʻole ke ola. "I ka haʻi ʻana iā ʻoe ua manaʻo mua ʻia ka manaʻolana o ke ola, paʻakikī ke hoʻohui i ka wā mua akā aʻo ʻoe e ola i kēlā me kēia lā," wahi āna.
A ʻo nā maʻi like ʻole o ka maʻi Rett e like me ke ʻano o ka hanu pathological (e like me ka apnea a i ʻole hyperventilation) a i ʻole nā hoʻololi cardiological e hoʻonui i ka hiki ke make koke i kēia mau maʻi e like me ka Spanish Association of Rett Syndrome.
Hōʻike i kahi pepeke
