Ua ʻike paha ʻoe i kahi keiki olakino, e holo ana a puni a e pāʻani ana, e paʻakikī mālie ana i ka hele ʻana a i ʻole ke kamaʻilio ʻana, a i ʻole e loli mālie ana kā lākou ʻano. Ma ke ʻano he makua, i ka wā e maikaʻi ana lākou i ka wā mua, a laila manaʻo lākou e emi ana nā hiki o kā lākou keiki i ka hala ʻana o ka manawa, he mea paʻakikī ke hōʻike i ka makaʻu a me ka hopohopo āu e manaʻo nei. ʻO ke kumu o kēia paha he maʻi laha ʻole i lohe ʻole ʻia e kekahi o mākou. I kēia lā, ke kamaʻilio nei mākou e pili ana i kahi hui o ia mau maʻi. ʻO ia ka leukodystrophy .
I ka ʻōlelo maʻalahi, he aha ka leukodystrophy?
ʻAʻole hoʻokahi maʻi ka Leukodystrophy. He hui ia o nā maʻi e hoʻopilikia i kā mākou ʻōnaehana nerve waena (ʻo ia hoʻi, ka lolo a me ke kaula spinal). Ke ʻike mau nei nā kauka i nā mea hou e pili ana i ia mea. I kēia manawa, ua ʻike ʻia ma kahi o 52 mau ʻano o kēia maʻi.
He nui o kēia mau ʻano leukodystrophies he genetic . ʻO ia hoʻi, ua hoʻoilina ʻia mai nā mākua a i nā keiki. I kekahi manawa hiki i ke keiki ke hōʻike i nā hōʻailona ma hope koke o ka hānau ʻana. Eia nō naʻe, hiki i kekahi mau keiki ke hānau ʻia me ke kīnā gene e pili ana i ka maʻi, akā i nā pae mua, hiki ke ʻike ʻia he olakino maikaʻi loa lākou.
ʻO ka mea nui, he holomua kēia mau kūlana, ʻo ia hoʻi, hiki i ke keiki i olakino mua ke loaʻa nā hōʻailona ma hope.
He aha nā hōʻailona o kēia maʻi?
Hoʻokahi mea like o kēia mau ʻano leukodystrophy a pau: hōʻino lākou i ka ʻūpā myelin i loko o ka lolo.
E noʻonoʻo i kahi uea uila i loko o ko mākou hale. Aia kahi ʻūpā palaki a puni ke uea keleawe i loko, ʻeā? ʻO ia ka mea e hiki ai i ka uila ke hele pololei i kahi e pono ai, me ka ʻole o ka liki ʻana. Pēlā nō, loaʻa i ko mākou mau aʻalolo kahi ʻūpā momona keʻokeʻo i kapa ʻia ʻo 'myelin' a puni lākou. ʻO kēia ʻūpā myelin ke kuleana no ka lawe ʻana i nā leka aʻalolo me ka pololei a me ka wikiwiki i ka lolo a mai ka lolo a i nā ʻāpana o ke kino. Ke hōʻino ʻia kēia ʻūpā myelin, ʻaʻole hiki i kā mākou ʻōnaehana aʻalolo ke hana pono.
Hoʻopōʻino kēlā me kēia ʻano leukodystrophy i kēia ʻupena myelin ma nā ʻano like ʻole, no laila hiki ke ʻokoʻa loa nā pilikia e ʻike ai nā keiki.
| Kahi o nā hōʻailona | Nā pilikia maʻamau i ʻike ʻia |
|---|---|
| Ke kaulike o ke kino a me ka neʻe ʻana | Paʻakikī ka hele wāwae, hāʻule pinepine, hiki ʻole ke kāohi i ke kino. |
| ʻAno a me ke aʻo ʻana | Nā pilikia aʻo, nalowale ka hoʻomanaʻo, nā loli ʻano. |
| Ka ulu ʻana a me ka hoʻomohala ʻana | ʻAʻole hōʻike i ka ulu ʻana o ka makahiki kūpono (e.g., lohi ka ʻōlelo, hele wāwae). |
| Ka hana o nā manaʻo | Ka emi mālie ʻana o ka lohe, ka ʻike, a me ka hiki ke ʻōlelo. |
| Nā pilikia ʻē aʻe e pili ana i ke aʻalolo | Nā pilikia hanu, nā pilikia kaohi mimi, nā hopu ʻana. |
Eia kekahi laʻana, ma ke ʻano i kapa ʻia ʻo ka maʻi Canavan , ua lolo nā ʻiʻo o ka ʻāʻī o ke keiki, akā ua paʻa mau ko lākou mau lima a me nā wāwae. Hiki iā lākou ke nalowale i ko lākou ʻike a loaʻa i nā ʻōʻō.
I kekahi manawa ʻike ʻia nā hōʻailona i ka wā hānau. Akā i loko o kahi ʻano e like me ka maʻi Refsum , ʻike ʻia nā hōʻailona ma kahi o 20 mau makahiki. I kekahi manawa hiki ke ʻike ʻia i ka wā mua o 50 mau makahiki. Hiki ke ʻike ʻia nā mea e like me ka nāwaliwali o ka retina, ka nalowale o ka lohe, a me ka nalowale o ke ʻala ma kēia.
Ma muli o ke ʻano ʻokoʻa o nā hōʻailona, hiki ke paʻakikī iki ka ʻike ʻana i kēia maʻi.
No ke aha e loaʻa ai kēia ʻano maʻi? He aha ke kumu?
E like me kā mākou i kūkākūkā ai ma mua, he nui o kēia mau maʻi he mau maʻi hoʻoilina . ʻO ke ʻano kēia, ua hoʻokumu ʻia lākou e kahi kīnā i loko o nā genes i loaʻa mai ka makuahine a i ʻole ka makuakāne, a i ʻole nā mea ʻelua.
Akā, ʻaʻole i hoʻoilina ʻia kekahi mau ʻano. Hoʻokumu ʻia lākou e kahi hoʻololi genetic hou. No ka laʻana, ʻaʻole like me he mea lā he hoʻoilina ka maʻi Alexander . ʻO ke ʻano kēia, ʻoiai inā ʻaʻohe makua i loaʻa ka gene kīnā, hiki nō i ke keiki ke hoʻomohala iā ia.
No laila, ʻoiai kekahi keiki i ka ʻohana hoʻokahi e loaʻa ana i ka leukodystrophy, ʻaʻole paha e loaʻa i nā keiki ʻē aʻe.
Inā loaʻa kekahi o kāu mau keiki i ka leukodystrophy a ke kali nei ʻoe i kahi keiki ʻē aʻe, he mea nui loa ia e ʻimi i ke aʻoaʻo genetic . E kōkua kēia iā ʻoe e hoʻomaopopo i kēia a me ka pilikia o ka loaʻa ʻana o kahi keiki i ka wā e hiki mai ana me ia. E kamaʻilio me kāu kauka e pili ana i kēia.
Pehea e ʻike pololei ai nā kauka i kēia maʻi?
He hana paʻakikī iki ka ʻike ʻana i kēia maʻi no ka mea he ʻokoʻa loa nā hōʻailona. No laila, pono nā kauka e hana i kekahi mau ʻano hoʻokolohua.
| ʻAno hoʻāʻo | I ka ʻōlelo maʻalahi... |
|---|---|
| Nā hoʻāʻo koko a me ka mimi | Ke ʻike ʻana i nā ʻano ʻē i nā kaʻina hana kemika o ke kino. |
| Nā kiʻi MRI | Ke kiʻi ʻana i nā kiʻi maopopo loa a kikoʻī hoʻi o ka lolo a me ka ʻōnaehana nerve e nānā ai no ka hōʻino ʻia ʻana o ka ʻupena myelin. |
| Nā scan CT | ʻO kekahi hoʻāʻo kiʻi ʻē aʻe e ʻike i nā loli i ke ʻano o ka lolo. |
| Hoʻāʻo ʻana i ka genetics | Ke ʻike ʻana i ke kīnā genetic kikoʻī e kumu ai ka maʻi. |
| Nā hoʻokolohua noʻonoʻo a me ka noʻonoʻo | Ke hoʻāʻo ʻana i nā mākau noʻonoʻo, aʻo ʻana, a me ka hoʻomanaʻo o ke keiki. |
Aia kekahi lāʻau lapaʻau no kēia?
ʻO ka ʻoiaʻiʻo, ʻaʻohe lāʻau lapaʻau paʻa no ka hapa nui o nā ʻano leukodystrophy. Eia naʻe, ʻaʻole kēia manaʻo ʻaʻohe mea hiki ke hana ʻia.
I ka wā o ka mālama ʻana, kālele nā kauka i ka kaohi ʻana i nā hōʻailona a me ka mālama ʻana i ke ʻano o ke ola o ke keiki i ka maikaʻi loa. Aia ka lāʻau lapaʻau i ke ʻano o ka leukodystrophy i loaʻa i ke keiki.
ʻO nā lāʻau lapaʻau maʻamau:
- Ke lawelawe ʻana i nā lāʻau lapaʻau e kāohi i nā hōʻailona (e laʻa, e kāohi i nā hopu ʻana).
- Hiki i nā lāʻau lapaʻau kūikawā, e like me ka hoʻoikaika kino, ka hoʻoikaika hana, a me ka hoʻoikaika ʻōlelo , ke kōkua i ka hoʻomaikaʻi ʻana i ka neʻe ʻana o ke keiki, ka hiki ke hana i nā hana o kēlā me kēia lā, a me ka ʻōlelo.
- Pono paha kekahi mau keiki i ke kōkua hou aku me ke aʻo ʻana a me ka meaʻai .
I kekahi mau hihia, hiki i ka hoʻoili iwi iwi ke hoʻolohi a hoʻōki paha i ka holomua o ka maʻi. Ke noiʻi nei nā kānaka ʻepekema i nā lāʻau lapaʻau hou, e like me ka gene therapy .
Me kēia mau mea a pau, ʻo ka mea nui loa, ʻo ia ke kamaʻilio pū me kāu kauka a hahai i kāna mau kuhikuhi.
Leka Lawe-Home
- ʻO Leukodystrophy kahi hui o nā maʻi genetic kakaikahi e hōʻino ana i ka uhi nerve (myelin sheath) i loko o ka lolo.
- ʻOiai inā olakino ke keiki i ka wā mua, hiki ke ʻike mālie ʻia nā hōʻailona i ka hala ʻana o ka manawa a e ʻoi aku ka ʻino o ke kūlana.
- Inā ʻike ʻoe i kahi hōʻino ʻana i ka hele ʻana, ka ʻōlelo ʻana, ka ʻike ʻana, a i ʻole ke ʻano o kāu keiki me ka ʻike ʻole ʻia, e ʻike koke i ke kauka.
- ʻOiai ʻaʻohe lāʻau lapaʻau kūikawā no ka hapa nui o nā ʻano, aia nā lāʻau lapaʻau e hoʻokele i nā hōʻailona a hoʻomaikaʻi i ke ʻano o ke ola o ke keiki.
- E kamaʻilio ākea me kāu kauka e pili ana i nā makaʻu, nā kānalua, a i ʻole nā nīnau āu.
💬 Comments (0)
ʻAʻohe manaʻo i kau ʻia. Hoʻohui i kāu manaʻo ma ʻaneʻi no ka manawa mua.
Hoʻohui i kāu manaʻo