Manaʻolana hou no ka poʻe me ka maʻi Fabry: E kamaʻilio kākou e pili ana i ka lāʻau lapaʻau ʻo Galafold!

Inā ʻoe a i ʻole kekahi āu i ʻike ai he maʻi Fabry, ua lohe paha ʻoe i kahi lāʻau i kapa ʻia ʻo Galafold. ʻO ia ka lāʻau waha mua a hoʻokahi wale nō no ka maʻi Fabry. ʻO nā lāʻau lapaʻau ʻē aʻe no ka maʻi Fabry, e like me ka hoʻōla hoʻololi enzyme , hāʻawi ʻia ma o ka injection. ʻO Galafold kahi ʻano lāʻau lapaʻau "chaperone" e hana ana ma ke ʻano ʻokoʻa loa. ʻAʻole ia e hana no nā ʻano maʻi Fabry āpau. Eia nō naʻe, hiki ke kōkua nui i ka poʻe me kekahi mau mutations i loko o ka gene e hoʻoulu ai i ka maʻi.

He aha ka maʻi Fabry? Pehea e hana ai ʻo Galafold?

I ka ʻōlelo maʻalahi, he maʻi genetic kakaikahi ka maʻi Fabry i hoʻoili ʻia mai ka makua a i ke keiki. Loaʻa i ka poʻe me ka maʻi Fabry kahi enzyme i kapa ʻia ʻo alpha-galactosidase A (alpha-gal) i loko o ko lākou kino. Akā, ʻaʻole hana pono kēia enzyme. ʻO kēia no ka mea aia kahi mutation i loko o ka gene e haʻi iā ia e hana i kēia enzyme.

He enzyme koʻikoʻi loa ʻo Alpha-gal i loaʻa i loko o nā cell he nui i loko o ko kākou kino. ʻO kāna hana nui ka wāwahi ʻana i kahi mea momona i kapa ʻia ʻo GL-3 . No laila, ke hana pono ʻole kēia enzyme, hoʻomaka ka mea i kapa ʻia ʻo GL-3 e hōʻiliʻili i loko o nā cell o ke kino. I ka hala ʻana o ka manawa, hiki i kēia hōʻiliʻili ke hōʻeha nui i nā ʻāpana koʻikoʻi o ke kino, e like me nā puʻupaʻa , ka puʻuwai , ka ʻili, ka lolo, a me ka ʻōnaehana nerve .

ʻElua ʻano nui o ka maʻi Fabry.

I ka wā e ʻelemakule ai ka poʻe me ka maʻi Fabry, hoʻomau ka hōʻiliʻili ʻana o GL-3 i loko o kā lākou mau cell. Hiki i kēia ke alakaʻi i nā pilikia olakino koʻikoʻi i ka hala ʻana o ka manawa. Hoʻomohala ka nui o ka poʻe i nā pilikia puʻupaʻa, kahi e hiki ai ke alakaʻi i ka hāʻule ʻana o ka puʻupaʻa . Hiki i ka maʻi ke hōʻino i ka puʻuwai a me nā kīʻaha koko , e hoʻonui ana i ka pilikia o ka hōʻeha puʻuwai a i ʻole ka hahau.

Ua hāʻawi ʻia i nā kānaka he nui ka Enzyme Replacement Therapy (ERT) no kēia. Pili kēia i ka hoʻokomo ʻana i kahi enzyme hana maikaʻi i hana ʻia ma waho i loko o ke kino. A laila hiki i ke kino ke hoʻohana i kēlā enzyme e wāwahi i ka GL-3.

Eia nō naʻe, hana ʻo Galafold ma ke ʻano ʻokoʻa loa. ʻO ka mea hana nui i loko o Galafold he lāʻau i kapa ʻia ʻo `migalastat`. ʻO kāna hana, hoʻopili ia i ka enzyme `alpha-gal` i loaʻa i loko o ke kino ponoʻī o ka mea maʻi, akā paʻa ʻole. E noʻonoʻo ʻoe ua 'pehu' iki ka enzyme `alpha-gal` i loko o kou kino, 'paʻa ʻole'. No laila, ʻaʻole hiki iā ia ke hana pono. ʻO ka hana a ka lāʻau i kapa ʻia ʻo Galafold, e like me ka hoaaloha, hoʻopili ia i kēia enzyme 'pehu' a 'hoʻopaʻa' iā ia. A laila hiki i kēlā enzyme ke hana pono i kāna hana. ʻO kēia ka mea a mākou e kapa nei ʻo "Chaperone Therapy" .

Hiki i nā mea a pau ke hoʻohana iā Galafold?

ʻAʻole. Hiki ke hoʻohana ʻia ʻo Galafold i nā poʻe i loaʻa kahi ʻano hoʻololi kūpono i loko o ka gene e hana ai i ka enzyme `alpha-gal`. Hiki nō i ka enzyme `alpha-gal` i hana ʻia e kēia hoʻololi ke hana, akā he paʻa ʻole loa ia e hana pono. Hoʻopili ʻo Galafold i kēlā enzyme, hoʻopaʻa iā ia, a hoʻolilo iā ia e hana.

ʻAʻole hana iki kekahi poʻe maʻi Fabry i ka enzyme `alpha-gal`, a i ʻole ʻaʻole hana iki ka enzyme i hana ʻia. ʻAʻole pono ʻo Galafold i kēlā poʻe. No ka mea, ʻaʻohe enzyme i loko o ke kino e hoʻopaʻa iā ia. ʻOi aku ka kūpono o ka enzyme replacement therapy (ERT) no lākou.

No laila, ma mua o ke kau ʻana o kāu kauka iā Galafold, e hana ʻo ia i kahi hoʻokolohua genetic kūikawā e hoʻoholo pono ai i ke ʻano o ka hoʻololi genetic āu. E hoʻoholo kēia inā he pono kēia lāʻau lapaʻau iā ʻoe a i ʻole.

Pehea ʻoe e hoʻohana ai i kēia lāʻau lapaʻau?

He mea nui loa kēia ʻāpana no ka mea, no ka loaʻa ʻana o ka pono piha o ka lāʻau lapaʻau, pono ʻoe e hoʻohana pono.

• Pehea e lawe ai: He capsule ʻo Galafold. Lawe ʻia i kēlā me kēia lā ʻē aʻe , ʻo ia hoʻi, i kēlā me kēia lā ʻē aʻe.
• Manawa o ka lā: He mea nui loa ia e lawe iā ia i ka manawa like i kēlā me kēia lā. Eia kekahi laʻana, inā ua lawe ʻoe iā ia i ka hola 8 am i ka lā mua, pono ʻoe e lawe iā ia i ka hola 8 am i ka lā aʻe.
• ʻO ka mea nui loa: Pono e lawe ʻia kēia lāʻau lapaʻau ma ka ʻōpū ʻole . ʻO ia hoʻi , ʻaʻole ʻoe e ʻai i kekahi mea no 2 mau hola ma mua a i ʻole 2 mau hola ma hope o ka lawe ʻana i ka lāʻau lapaʻau.
• ʻO kekahi mea nui: Eia kekahi, mai inu i kekahi mea i loaʻa ka caffeine (e like me ke kī, ke kofe, kekahi mau mea inu palupalu) no 2 mau hola ma mua a me 2 mau hola ma hope o ka lawe ʻana i ka pila. I loko o kēia manawa, hiki iā ʻoe ke inu i ka wai, nā mea inu hua ʻole fiber, a i ʻole nā ​​​​mea inu kalapona ʻaʻohe caffeine.

I mea e kōkua ai iā ʻoe e pale aku i ka huikau ʻana o kou mau lā, hele mai kēia lāʻau lapaʻau i loko o kahi pūʻolo kūikawā. Ua kapa ʻia ʻo ia he 'kāleka blister.' He ala kona e hōʻailona ai i nā lā. Wehe ʻoe i ke kāleka blister i ka lā āu e lawe ai i ka lāʻau lapaʻau, a i ka lā ʻaʻole ʻoe e lawe i ka lāʻau lapaʻau, wehe ʻoe i ka pōʻai hakahaka ma kona wahi. Ma kēia ʻano, hiki iā ʻoe ke hōʻailona i ke kāleka i kēlā me kēia lā a ʻaʻole e poina i ka lā e pono ai ʻoe e lawe i ka lāʻau lapaʻau.

Aia kekahi mau hopena ʻaoʻao a me nā pilikia me nā lāʻau lapaʻau ʻē aʻe?

Hiki i kekahi poʻe e lawe ana iā Galafold ke loaʻa i kahi pilikia iki o nā maʻi hanu (anu, ʻeha puʻu) a me nā maʻi ʻōpū mimi. ʻO ke ala maikaʻi loa e pale aku ai i nā maʻi, ʻo ia ka holoi pinepine ʻana i kou mau lima, e noho mamao aku mai ka poʻe maʻi, a inu nui i ka wai.

Eia kekahi, e like me kā mākou i kūkākūkā ai ma mua, ʻo ka caffeineNo laila, ʻaʻole paha e kūleʻa nui ʻo Galafold. No laila e makaʻala me nā mea i loaʻa ka caffeine. He mea nui hoʻi e hoʻomaopopo i kāu kauka e pili ana i nā lāʻau lapaʻau ʻē aʻe, nā huaora, a i ʻole nā ​​​​lāʻau lapaʻau kuʻuna āu e lawe nei.