E hopohopo nui paha ʻoe ke ʻike ʻoe he maʻi genetic laha ʻole kou i kapa ʻia ʻo hATTR amyloidosis. He maʻi laha ʻole maoli nō ia. He 50,000 wale nō kānaka ma ka honua holoʻokoʻa i loaʻa i kēia maʻi. He mea maʻamau ka makaʻu a me ka huikau ke lohe ʻoe e pili ana iā ia. I ka ʻōlelo maʻalahi, ua hoʻokumu ʻia kēia maʻi e kahi mutation i loko o kahi gene i kapa ʻia ʻo TTR i loko o ko mākou kino. ʻO ka hopena, ua waiho ʻia kahi ʻano protein ʻē aʻe i kapa ʻia ʻo amyloids i loko o nā ʻōpū e like me ko mākou puʻuwai, nā puʻupaʻa, ka ʻōnaehana nerve, a me ka ʻōnaehana gastrointestinal. A laila ʻaʻole hiki i kēlā mau ʻōpū ke hana pono. Ke hele ʻoe e ʻike i ke kauka no ka manawa mua, e nīnau ʻo ia iā ʻoe i nā nīnau he nui. He mea nui loa ka mākaukau ma mua. A laila hiki iā ʻoe a me ke kauka ke koho i ka lāʻau lapaʻau maikaʻi loa nāu.
Pehea ʻoe e hoʻomākaukau ai ma mua o kou hele ʻana e ʻike i ke kauka?
He mea kūpono ke hoʻolohe i kēia mau mea ma mua o kou hele ʻana i ke kauka.
E ʻike pono i ka mōʻaukala olakino o kou ʻohana
He maʻi hoʻoilina ka hATTR amyloidosis. Ma ke ʻano lapaʻau, he ʻano "autosomal dominant" ia. ʻO ke ʻano kēia, inā loaʻa i kekahi o kou mau mākua ka hoʻololi ʻana o ka gene e hoʻoulu ai i kēia maʻi, he 50% kou manawa e hoʻoilina ai. Inā ua ʻike ʻia kekahi o kou mau mākua, he kaikaina, a he keiki paha me kēia maʻi, he mea nui loa ia e loaʻa ka hoʻāʻo hoʻoilina, ʻoiai inā ʻaʻohe ou hōʻailona.
E hoʻomanaʻo, ʻoiai inā loaʻa i kekahi o kou ʻohana ka maʻi, ʻaʻole ia he manaʻo he 100% paha e loaʻa iā ʻoe. Akā, ʻo ka ʻike inā loaʻa iā ʻoe ka gene hiki ke kōkua iā ʻoe e loaʻa ka lāʻau lapaʻau .
E lawe i nā hōʻike hoʻāʻo a pau āu i hana ai.
Inā ua loaʻa iā ʻoe kekahi hoʻāʻo genetic ma mua e ʻimi ai i ka hoʻololi ʻana o ka gene TTR, e haʻi i kāu kauka e pili ana i ia mea. Eia kekahi, inā hōʻoia nā hopena o kāu hoʻāʻo ua loaʻa iā ʻoe ka gene, e paipai kāu kauka i kekahi mau hoʻāʻo hou aʻe. ʻO kēia no ka mea hiki i ka maʻi hATTR ke hoʻopilikia i nā ʻōpū ʻē aʻe, e like me ka puʻuwai, ke akepaʻa, a me nā puʻupaʻa. Inā ua loaʻa iā ʻoe kahi hoʻāʻo puʻuwai (echocardiogram) a i ʻole nā hoʻāʻo koko, e hōʻoia e lawe mai i kēlā mau hōʻike āpau.
E lawe mai i kahi papa inoa o nā lāʻau lapaʻau āu e lawe nei.
E makemake ana kāu kauka e ʻike e pili ana i nā lāʻau lapaʻau āpau āu e lawe ai. ʻAʻole wale kēia i nā mea i kuhikuhi ʻia e kāu kauka, akā, ʻo nā lāʻau hoʻopau ʻeha, nā huaora, a me nā mea hoʻohui āu e lawe ai.
Nā nīnau a ke kauka e nīnau aku ai iā ʻoe
ʻO ka mākaukau e pane i kāu mau nīnau e kōkua i kāu kauka e hoʻoholo i ka lāʻau lapaʻau maikaʻi loa nāu. E hāʻawi pū ia iā ʻoe i ka manawa e nīnau ai i kāu mau nīnau.
Eia kahi hōʻuluʻulu manaʻo pōkole o nā mea a ke kauka e nīnau aku ai iā ʻoe.
| Wahi nīnau | Nā mea e nīnau ʻia aku ai iā ʻoe a me nā mea āu e pono ai e ʻike |
|---|---|
| Moʻolelo ʻohana o ka maʻi | "Aia kekahi o kou ʻohana i loaʻa i ka hATTR?" nīnau lākou. Malia paha ua loaʻa i kekahi o kou ʻohana ka maʻi puʻuwai, ka neuropathy holomua , ka carpal tunnel syndrome , a i ʻole nā pilikia ʻōpū. Malia paha ua loaʻa iā lākou ka hATTR a ʻaʻole lākou i ʻike. No laila e kaʻana like i kēia ʻike me lākou. |
| Nā hoʻokolohua genetic a me nā diagnostics | "Ua loaʻa anei iā ʻoe kahi hoʻāʻo genetic?" nīnau lākou. Hiki ke paʻakikī ke ʻike i ka hATTR no ka mea e hoʻopilikia ia i nā ʻōpū he nui. Hiki i kāu kauka ke ʻōlelo i kēia mau hoʻokolohua: kahi biopsy (lawe ʻana i kahi ʻāpana ʻiʻo no ka hoʻāʻo ʻana), nā hoʻokolohua koko, kahi echocardiogram a i ʻole ka cardiac MRI e nānā i kou puʻuwai, a me nā hoʻokolohua hoʻokele nerve e nānā i ka hana nerve. |
| Nā hōʻailona e pili ana i ka puʻuwai | "Loaʻa iā ʻoe nā hōʻailona e like me ka palpitations o ka puʻuwai, ka pōkole o ka hanu, ka paʻakikī o ka hoʻoikaika kino, a i ʻole ka pehu ʻana i kou mau wāwae?" Hiki i ka hATTR ke hana i kēia mau protein e hōʻiliʻili i loko o ka puʻuwai, e hoʻoulu ai i nā hōʻeha puʻuwai, nā maʻi puʻuwai, a i ʻole ka mānoanoa o ka ʻiʻo puʻuwai (hypertrophic cardiomyopathy) . Inā loaʻa iā ʻoe kēia mau hōʻailona, e kuhikuhi koke ʻia ʻoe i kahi cardiologist. |
| Nā pilikia ʻike | "He mau loli anei kou ʻike, e like me nā mea lana?" Ma kahi o 20% o nā hoʻololi ʻana o ka gene TTR e hoʻopilikia i nā maka. Pono e nānā ʻia nā loli o ka ʻike e ke kauka maka . |
| Nā pilikia hele a me ke aʻalolo | "Ke pilikia nei ʻoe i ka hele wāwae?" ʻO kekahi o nā hōʻailona mua a maʻamau o ka maʻi hATTR ʻo ia ka hōʻino ʻia o nā aʻalolo i kou mau lima a me kou mau wāwae (peripheral neuropathy) . Hiki i kēia ke hana i nā hōʻailona e like me ka ʻeha, ka mae ʻana, a me ke kani ʻana. Inā pili kēia i kou ola, pono paha ʻoe e noʻonoʻo i nā mea e like me ka hana lapaʻau . |
| Nā pilikia o ka ʻōnaehana nerve autonomic | "Ke hou nui nei ʻoe, ke hoʻololi nei ma waena o ka maʻi pākīkī a me ka paʻa ʻana o ka ʻōpū, a i ʻole ka paʻakikī ke kāohi i kou mimi?" He mau pilikia kēia me ka ʻōnaehana nerve autonomic , ka mea e kāohi ana i nā mea e like me ko mākou puʻuwai puʻuwai, ke koko, a me ka ʻai ʻana i waho o kā mākou mana. ʻO ka loaʻa ʻana o kēia mau hōʻailona he hōʻailona paha ia e ʻoi aku ka ʻino o kou kūlana hATTR. |
Kamaʻilio pū ke kauka e pili ana i nā ʻano lapaʻau.
Ma hope o ka hōʻoia ʻana i kou kūlana, e kūkākūkā ke kauka i nā koho lapaʻau me ʻoe.
Ua lawe mua ʻoe i kāu lāʻau lapaʻau?
Aia kekahi mau lāʻau lapaʻau i ʻae ʻia i kēia manawa e kāohi i ka hATTR a hoʻolohi i kona holomua. ʻO nā laʻana e komo pū me ` Eplontersen (Wainua)`, `inotersen (Tegsedi)`, `patisiran (Onpattro)`, `vutrisiran (Amvuttra)`, `tafamidis (Vyndamax)`, a me `tafamidis meglumine (Vyndaqel)`. He mea nui e haʻi i kāu kauka inā ua hoʻohana ʻoe i kekahi o kēia mau lāʻau lapaʻau ma mua, inā ua kōkua lākou iā ʻoe, a inā paha ua hoʻoulu lākou i kekahi mau hopena ʻaoʻao.
He aha kou manaʻo e pili ana i ka hoʻoili ʻana o ke akepaʻa?
No nā makahiki he ʻumi, ʻo ka lāʻau lapaʻau maikaʻi loa no ka hATTR he hoʻoili ate. Akā hele mai ia me kahi pilikia kiʻekiʻe o nā pilikia, ʻoi aku hoʻi nā pilikia o ka puʻuwai. Hōʻike nā noiʻi hou e hiki i kekahi mau lāʻau lapaʻau hou ke like ka maikaʻi me ka hoʻoili ate. No laila hiki iā ʻoe ke kamaʻilio me kāu kauka e pili ana i nā pono a me nā pōʻino o kēia ʻoki kino a me nā lāʻau lapaʻau ʻē aʻe.
Makemake ʻoe e komo i kahi hoʻokolohua lapaʻau?
Ke ʻimi mau nei nā kauka i nā ala maikaʻi e mālama ai i nā maʻi hATTR. ʻO kahi ala e hana ai i kēia ma o nā hoʻokolohua lapaʻau. Ua hoʻāʻo ʻia kēlā me kēia lāʻau lapaʻau i ʻae ʻia i kēia lā ma kēia ʻano. He manawa kūpono kēia e loaʻa ai kahi lāʻau lapaʻau hou ma mua o ka loaʻa ʻana i ka lehulehu. Akā aia kekahi mau pilikia. Hiki iā ʻoe ke nīnau i kāu kauka e pili ana i kēia.
Leka Lawe-Home
- He maʻi laha ʻole ka hATTR amyloidosis , he maʻi hoʻoilina. He mea maʻamau ke hopohopo ke lohe ʻoe e pili ana i ia mea.
- Ke hele ʻoe e ʻike i ke kauka, e lawe mai i ka mōʻaukala olakino o kou ʻohana, nā hopena o nā hoʻokolohua āu i loaʻa ai, a me ka papa inoa o nā lāʻau lapaʻau āu e lawe nei.
- E haʻi i kāu kauka e pili ana i kāu mau hōʻailona (ʻeha umauma, paʻakikī ka hanu ʻana, mae wale kou mau lālā, loli i kou ʻike) me ka hūnā ʻole i kekahi mea.
- E kamaʻilio ākea me kāu kauka e pili ana i nā koho lapaʻau (lāʻau lapaʻau, ʻoki kino, noiʻi lapaʻau) a nīnau i kāu mau nīnau a pau.
- Ma ka ʻike pololei ʻana i ka maʻi a me ka loaʻa ʻana o ka lāʻau kūpono, hiki iā ʻoe ke ola me ka holomua me kēia maʻi.
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