ʻAʻole paha ʻoe i lohe i ka maʻi Fabry ma mua. He maʻi maʻamau loa ia, ʻoiai he maʻi genetic kakaʻikahi. Akā inā ua ʻike ʻia ʻoe a i ʻole kekahi o kou ʻohana me ia, he mea maopopo ke kaumaha. Akā e hoʻomanaʻo, ʻoiai ʻaʻohe lāʻau lapaʻau no kēia maʻi, nui nā lāʻau lapaʻau maikaʻi i loaʻa i kēia lā e hiki ke kōkua iā ʻoe e ola i ke ola maʻamau e like me ka hiki. E kamaʻilio kākou e pili ana i kēia mau lāʻau lapaʻau i kēia lā.
Nā ʻano lapaʻau nui: Enzyme Therapy
I ka ʻōlelo maʻalahi, ua hana ʻia ka maʻi Fabry e ka hemahema a i ʻole ka hana pono ʻole o kahi enzyme e pono ai i ko mākou kino. No laila, ʻo ka pahuhopu nui o ka lāʻau lapaʻau ka hoʻoponopono ʻana i kēia pilikia. ʻElua mau ala nui e hana ai i kēia.
1. Lapaʻau Hoʻololi ʻEnzyme (ERT)
ʻO kēia ka hoʻololi ʻana i ka enzyme `alpha-galactosidase A (alpha-Gal A)` i nele i loko o kou kino. Ua like ia me ka hoʻohui ʻana i ka ʻaila i loko o ke kaʻa i ka wā e emi ana ka ʻaila. Hāʻawi ʻia kēia lāʻau lapaʻau ma o kahi aʻa (kahi `IV` infusion). Hana pinepine ʻia i kēlā me kēia ʻelua pule . ʻO ka lāʻau lapaʻau nui i ʻae ʻia no kēia kumu ʻo `agalsidase beta (Fabrazyme)`.
ʻOiai inā ua ʻike ʻia ke kāne me kēia maʻi, hiki i ke kauka ke ʻōlelo aku e hoʻomaka koke i kēia lāʻau lapaʻau, ʻoiai inā ʻaʻohe hōʻailona. ʻO ke kumu o kēia, ʻoiai inā ʻaʻole ʻoe e ʻike i kekahi ʻeha, ua hoʻomaka mua paha nā ʻōpū o loko e like me nā puʻupaʻa a me ka puʻuwai e hōʻino ʻia. No laila, ʻo ka hoʻomaka mua ʻana i ka lāʻau lapaʻau hiki ke pale i ka hōʻino ʻana i kēlā mau ʻōpū .
ʻO ka maʻamau, ʻaʻole i hoʻopilikia nui ʻia nā wahine e ka maʻi Fabry. No laila, e kali paha kāu kauka a hiki i kou hoʻomaka ʻana e hōʻike i nā hōʻailona a i ʻole a hōʻike nā hoʻokolohua ua hōʻino ʻia kou mau kino. Hiki i kekahi poʻe ke loaʻa i ke anu a me ke kuni i ka wā e lawe ana i kēia lāʻau. Akā, mai hopohopo, e hāʻawi kāu kauka iā ʻoe i kahi antihistamine e kōkua i ka pale ʻana i kēia.
2. Lāʻau lapaʻau waha
He lāʻau lapaʻau hou kēia. Ua kapa ʻia ka pila ʻo 'Migalastat (Galafold).' Hana ia ma ke kōkua ʻana i ka enzyme ponoʻī o kou kino ʻo 'alpha-Gal A', ka mea e hana pono ʻole nei, e hana maikaʻi. He mea maʻalahi loa ka lawe ʻana i kahi pila ma mua o ka hoʻokomo ʻia ʻana i loko o kahi aʻa.
Akā, ʻaʻole ia e hana no nā kānaka a pau. Hana kēia lāʻau lapaʻau ma lalo o ka hapalua o ka poʻe me ka maʻi Fabry. Inā paha e hana a ʻaʻole paha, aia ia i kekahi mau loli (nā hoʻololi ʻana o ka gene) i loko o kāu mau genes. No laila, ma mua o ka hoʻomaka ʻana i kēia lāʻau lapaʻau, e hana kāu kauka i kahi hoʻāʻo genetic.
Pehea e kāohi ai i nā hōʻailona?
Hiki i ka maʻi Fabry ke hana i nā ʻano pilikia like ʻole. ʻO ka mea maʻamau ka mumū o nā lālā, ka maʻi puʻuwai, a me ka maʻi puʻupaʻa. No laila, me ka hoʻōla ʻana i ka enzyme, e kuhikuhi paha kāu kauka i nā lāʻau lapaʻau ʻē aʻe e kōkua i ka kaohi ʻana i kēia mau hōʻailona.
| Hōʻailona/Pilikia | ʻO ka lāʻau lapaʻau i hāʻawi pinepine ʻia |
|---|---|
| ʻO ka mumū nui a me ka ʻeha ma nā lima a me nā wāwae | ʻO nā lāʻau lapaʻau e like me ka carbamazepine, gabapentin, a i ʻole phenytoin, i hāʻawi pinepine ʻia no ka maʻi epilepsy, hāʻawi ʻia e kāohi i ka ʻeha. |
| Ka pōʻino o nā puʻupaʻa a me ke koko kiʻekiʻe | Ua kuhikuhi ʻia nā lāʻau lapaʻau koko e like me nā mea hoʻopaʻa ACE . Kōkua kēia i ka pale ʻana i nā puʻupaʻa me ka hoʻomalu ʻana i ke koko. |
| Nā ʻano kūlike ʻole o ka puʻuwai | Pono paha nā lāʻau lapaʻau puʻuwai ʻē aʻe e mālama i ka hana pono o ka puʻuwai. |
| Nā pilikia o ka ʻōnaehana hoʻoheheʻe (ka luaʻi ʻana, ka maʻi diarrhea, ka ʻeha ʻōpū) | E kuhikuhi ke kauka i nā lāʻau lapaʻau kūpono e pili ana i kēia mau hōʻailona. |
| Nā pilikia ʻili (ʻike ʻia nā kīʻaha koko liʻiliʻi) | Hiki i kahi kauka ʻili ke wehe i kēia mau mea me nā lāʻau lapaʻau maʻalahi. |
| Nā pilikia lohe (kani ʻana i nā pepeiao, dizziness, nalowale o ka lohe) | Hiki ke hōʻalo ʻia kēia mau pilikia ma ka hoʻohana ʻana i nā mea kōkua hoʻolohe. |
Nā hoʻokolohua e nānā ana i ke kūlana o ka maʻi
Ma muli o ka hoʻopilikia ʻana o ka maʻi Fabry i kou kino holoʻokoʻa, hiki ke ʻoi aku ka ʻino o nā hōʻailona i kou wā ʻelemakule. He mea nui e noho ma luna o kou olakino. Hoʻokomo pū kēia i nā nānā lapaʻau maʻamau .
- Nā hoʻāʻo koko: Kōkua kēia i ka nānā ʻana i kāu helu koko ʻulaʻula a me ke keʻokeʻo, nā pae electrolyte, a pehea e hana ai kou mau puʻupaʻa a me ke akepaʻa.
- Nā hoʻāʻo mimi: E nānā no ka protein a i ʻole ke koko i loko o ka mimi. Hiki i kēia ke lilo i hōʻailona mua o ka maʻi puʻupaʻa.
- ECG (Electrocardiogram): Hoʻopaʻa kēia i nā hōʻailona uila o ka puʻuwai a nānā i nā ʻano puʻuwai ʻē.
- Echocardiogram: Lawe ʻia ke kiʻi o ka puʻuwai me ka hoʻohana ʻana i nā nalu kani. Hiki ke hoʻohana ʻia kēia e nānā i nā pilikia me nā valves a me nā keʻena o ka puʻuwai.
- Hoʻāʻo lohe: He manaʻo maikaʻi e hana ʻia kēia hoʻāʻo ma ka liʻiliʻi hoʻokahi manawa i ka makahiki.
- Kiʻi lolo: ʻO kēia hoʻāʻo, i hana ʻia ma kahi o kēlā me kēia ʻelua makahiki, e nānā i nā loli i loko o nā kīʻaha koko i loko o ka lolo. Hiki i kēia ke kōkua i ka ʻike ʻana i nā hōʻailona mua o ka hahau ʻana.
ʻO ka hui lapaʻau e kōkua iā ʻoe
Ma kēia ʻano kūlana, ʻaʻole ʻo kāu kauka ʻohana wale nō ka mea nāna e mālama iā ʻoe. E kōkua aku kahi hui o nā loea ma nā ʻano like ʻole iā ʻoe. Ma muli o kāu mau hōʻailona, pono paha ʻoe e ʻike i kēia mau loea ma ka liʻiliʻi hoʻokahi manawa i ka makahiki.
- Neurologist: No nā pilikia e pili ana i ka lolo a me ka ʻōnaehana nerve.
- Kauka Puʻuwai: No nā pilikia e pili ana i ka puʻuwai.
- Nephrologist: No nā pilikia e pili ana i ka puʻupaʻa.
- Kauka maka: No nā pilikia e pili ana i ka maka.
Leka Lawe-Home
- ʻOiai ʻaʻole hiki ke ho'ōla loa ʻia ka maʻi Fabry, hiki ke mālama ʻia me ka holomua me nā lāʻau lapaʻau o kēia manawa a hiki i nā kānaka ke ola i kahi ola maʻamau.
- ʻElua mau lāʻau lapaʻau nui: ka intravenous enzyme therapy (ERT) a me nā papa waha (Migalastat). Na kāu kauka e hoʻoholo i ka mea kūpono loa iā ʻoe.
- He mea nui ka kaohi ʻana i nā hōʻailona e like me ka ʻeha, ka maʻi puʻuwai, a me nā maʻi puʻupaʻa no ka hoʻomaikaʻi ʻana i ka maikaʻi o ke ola.
- He mea nui e hele i nā hoʻokolohua lapaʻau i ka manawa kūpono a mālama i ka launa pū ʻana me ka hui lapaʻau kūikawā.
- E kamaʻilio ākea a me ka ʻoiaʻiʻo me kāu kauka e pili ana i kou kūlana, nā koho lapaʻau, a me nā hopohopo āu e loaʻa ai. Mai makaʻu, ua mākaukau mau lākou e kōkua iā ʻoe.
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