Ua ʻike paha ʻoe ua ʻoi aku ka palaualelo o kāu keiki liʻiliʻi ma mua o nā keiki ʻē aʻe, ua paʻakikī iā ia ke paʻa pololei i kona ʻāʻī, a i ʻole ke piʻi mālie nei ke kaumaha. A i ʻole, ma ke ʻano he kanaka makua, ke manaʻo nei ʻoe i ka luhi a me ka poniuniu i ka piʻi ʻana i nā alapiʻi a i ʻole ka hele wāwae ʻana i kahi mamao pōkole? ʻO ke kumu ma hope o kēia mau mea he ʻano maʻi laha ʻole paha āu i lohe ʻole ai. ʻO ia ka mea a mākou e kamaʻilio nei i kēia lā.
I ka ʻōlelo maʻalahi, he aha ka maʻi Pompe?
E noʻonoʻo i ko kākou kino e like me kahi hale hana nui. Pono kēia hale hana i nā limahana like ʻole (nā protein/ enzymes ) e hana. Loaʻa ka maʻi Pompe i ka wā e nalowale ana a i ʻole hana pono ʻole kekahi o nā limahana (kahi protein kikoʻī) e wāwahi ana i ka glycogen , kahi ʻano kō i loko o ko kākou kino, a hana i ka ikehu.
I kēia manawa ua hala kēia mea hana, ma kahi o ka hoʻololi ʻia ʻana i ikehu, hoʻomaka kēlā ʻano kō i kapa ʻia ʻo glycogen e hōʻiliʻili i loko o nā ʻāpana o ko kākou kino, ʻoiai ma nā wahi e like me nā ʻiʻo, ka puʻuwai , a me ke akepaʻa . Ua like ia me nā mea maka e hōʻiliʻili ana i loko o kahi hale hana. ʻO kēia hōʻiliʻili ʻana o ka glycogen e hōʻino i kēlā mau ʻōkana a hoʻonāwaliwali i kā lākou hana.
Ua kapa ʻia kēia maʻi ʻo 'GAA deficiency' a i ʻole 'type II glycogen storage disease ( GSD )'.
He aha ke kumu o kēia maʻi?
He maʻi hoʻoilina ka maʻi Pompe. ʻO ia hoʻi, ua hoʻoilina mākou mai ko mākou mau mākua mai. Eia nō naʻe, no ka loaʻa ʻana o ka maʻi, pono ʻoe e loaʻa i ka gene kīnā no ka maʻi mai kou makuahine a me kou makuakāne .
Inā hoʻoilina kekahi kanaka i hoʻokahi wale nō gene kīnā, ʻaʻole lākou e hōʻike i nā hōʻailona o ka maʻi. Akā, e lilo lākou i mea lawe o ka maʻi. ʻO ia hoʻi, hiki iā lākou ke hoʻoili i ka gene kīnā i kā lākou mau keiki.
He aha nā hōʻailona o kēia maʻi?
ʻOkoʻa loa nā hōʻailona o kēia maʻi, ka makahiki o ka hoʻomaka ʻana, a me ke koʻikoʻi o ka maʻi mai kēlā kanaka a kēia kanaka. Hiki ke hoʻokaʻawale ʻia i ʻelua mau ʻāpana nui.
| Ka manawa o ka hoʻomaka ʻana o ka maʻi | Nā hōʻailona i ʻike pinepine ʻia |
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| ʻAno hoʻomaka pēpē (Mai kekahi mau mahina a i hoʻokahi makahiki) |
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| ʻAno hoʻomaka lohi (I kēlā me kēia makahiki, mai ka wā kamaliʻi a hiki i ka wā ʻelemakule) |
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Pehea e ʻike pono ai i ka maʻi?
Ma muli o ka like pinepine ʻana o kēia mau hōʻailona me nā maʻi ʻē aʻe, hiki ke paʻakikī iki ka ʻike ʻana. Hiki i kāu kauka ke nīnau i nā nīnau e like me kēia e kōkua iā ʻoe e hoʻomaopopo i ke kūlana:
- Ke nāwaliwali nei ʻoe, hāʻule pinepine, a paʻakikī paha i ka hele wāwae, ka holo ʻana, a i ʻole ke piʻi ʻana i nā alapiʻi?
- He pilikia anei kou hanu ʻana, ʻoiai i ka pō a i ʻole i ka wā e moe ana?
- He ʻeha poʻo kou ke ala ʻoe i ke kakahiaka?
- Ke luhi loa nei ʻoe i ka lā a pau?
- Ua loaʻa i kekahi o kou ʻohana kēia mau hōʻailona?
Ma waho aʻe o kēia mau nīnau, hiki ke hana ʻia kekahi mau hoʻokolohua e kāpae i nā kūlana olakino ʻē aʻe. Inā kānalua ʻia ka maʻi Pompe, hana ʻia kēia mau hoʻokolohua e hōʻoia i ka hōʻailona:
- He hoʻāʻo koko: Nānā kēia i ka hana maikaʻi o ka protein (enzyme) nele.
- Biopsy ʻiʻo: Lawe ʻia kahi ʻāpana liʻiliʻi o ke ʻiʻo a nānā ʻia ma lalo o kahi microscope e ʻike i ka nui o ka glycogen i mālama ʻia i loko.
- Hoʻāʻo Genetic:Ke ʻimi pololei nei lākou i ke kīnā genetic e hoʻoulu ai i ka maʻi.
ʻO ka mea nui loa, hiki ke lōʻihi ka manawa e ʻike ai i kēia maʻi. Hiki ke liʻiliʻi i 3 mau mahina no kahi pēpē, a hiki i 7-9 mau makahiki no kahi pākeke. No laila he mea nui e hoʻomanawanui.
He aha nā lāʻau lapaʻau?
ʻOiai ʻaʻohe lāʻau lapaʻau no kēia maʻi i kēia manawa, aia nā lāʻau lapaʻau kūpono loa e hiki ke kāohi i nā hōʻailona a hoʻolōʻihi i ke ola. He mea nui loa ia e hoʻomaka i ka lāʻau lapaʻau i ka wā hikiwawe loa , ʻoiai no nā pēpē.
ʻO ka lāʻau lapaʻau nui ʻo ia ka Enzyme Replacement Therapy (ERT) . I ka ʻōlelo maʻalahi, pili kēia i ka hāʻawi ʻana i ke kino i kahi enzyme (protein) i nele a nele paha i ke kino ma o kahi injection. Ke loaʻa kēia injection, hiki i ke kino ke wāwahi i ka glycogen kō. ʻO kekahi o nā lāʻau lapaʻau i hoʻohana ʻia no kēia:
- ʻO Myozyme (pinepine no nā pēpē)
- ʻO Lumizyme
- ʻO `Nexviazyme` (no ke ʻano hoʻomaka lohi)
Eia kekahi, aia kahi lāʻau lapaʻau hou i ʻāpono ʻia no nā pākeke i pane maikaʻi ʻole i ka lāʻau ERT. Hoʻohana ia i ka hui pū ʻana o ʻelua mau lāʻau i lawe ʻia ma ke ʻano he inikini (`Pombiliti`) a me nā capsules (`Opfolda`).
Nā mea e noʻonoʻo ai i ka wā e noho ai me kēia maʻi
Hiki ke paʻakikī ke ola me ka maʻi Pompe, no laila he mea nui e loaʻa ke kākoʻo nou iho a me kou ʻohana. Hiki iā ʻoe ke komo i nā hui kākoʻo kahi e hiki ai i nā poʻe ʻē aʻe me ka maʻi ke kaʻana like i nā ʻike a loaʻa nā ʻōlelo aʻoaʻo kūpono.
Eia kekahi laʻana, inā paʻakikī ke ale i ka meaʻai, hiki ke hoʻohui ʻia nā mea hoʻomānoanoa i ka meaʻai. Pono paha kekahi poʻe e hāʻawi ʻia i ka meaʻai ma o kahi ʻōmole hānai e loaʻa ai ka meaʻai e pono ai.
Ma muli o ka hoʻopilikia ʻana o kēia maʻi i nā ʻāpana he nui o ke kino, pono ʻoe i ke kākoʻo o kahi hui o nā kauka loea.
- Kauka Puʻuwai
- Kauka lapaʻau noʻonoʻo
- Kauka Lapaʻau Hanu
- Meaʻai Meaʻai
Me ke kākoʻo o kēlā me kēia kanaka hiki iā kākou ke mālama i nā hōʻailona a noho olakino maikaʻi.
Leka Lawe-Home
- ʻO ka maʻi Pompe kahi maʻi genetic i hoʻoilina ʻia mai nā mākua mai.
- ʻO nā hōʻailona nui ka nāwaliwali o nā ʻiʻo a me ka pilikia o ka hanu ʻana.
- Hiki i ka maʻi ke hōʻike ʻia i ʻelua mau ʻano: i ka wā kamaliʻi a me ka wā makua.
- ʻO ka ʻike ʻana i ka maʻi i ka wā hikiwawe loa a me ka hoʻomaka ʻana i ka enzyme replacement therapy (ERT) hiki ke hōʻemi i ka pōʻino i hana ʻia e ka maʻi.
- Inā he kānalua kāu a kāu keiki paha e pili ana i kēia mau hōʻailona, e ʻike koke i ke kauka a e ʻimi i ka ʻōlelo aʻo.
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