Loaʻa iā ʻoe kahi maʻi laha ʻole e hoʻopilikia ana i ka 'mea keʻokeʻo' o kou lolo? E kamaʻilio kākou e pili ana iā Leukodystrophy!

Ua lohe paha ʻoe i ka huaʻōlelo 'Leukodystrophy'? He mea ʻē paha ia a paʻakikī ke haʻi ʻana, ʻeā? Akā, he moʻolelo kēia e pili ana i kahi maʻi laha ʻole e hoʻopilikia ana i kā mākou ʻōnaehana nerve, ʻoiai ka lolo a me ke kaula iwi kuamoʻo, akā he mea nui loa ia no kākou a pau e makaʻala. I kekahi manawa hopohopo nui mākou inā loaʻa i kekahi mea kokoke iā mākou, he keiki liʻiliʻi, kēia maʻi. No laila, e kamaʻilio kākou e pili ana i kēia i kēia lā, ma ke ʻano hiki iā ʻoe ke hoʻomaopopo.

He aha kēia maʻi leukodystrophy?

I ka ʻōlelo maʻalahi, ʻo ka leukodystrophy kahi hui o nā maʻi neurological kakaʻikahi. Hoʻopuni ʻia nā aʻalolo i loko o ko mākou lolo a me ke kaula spinal (e like me nā uea uila) e kahi uhi pale, insulating i kapa ʻia ʻo myelin . Kōkua kēia myelin i nā leka aʻalolo e hele mālie a wikiwiki. Kāhea pū nā kauka i kēia papa myelin ʻo ke keʻokeʻo.

E noʻonoʻo e like me ka ʻūpā palakiko e hoʻopuni ana i kahi uea uila. Inā ua hōʻino ʻia kēlā ʻūpā, ʻaʻole e kahe pono ka uila, a hiki iā ia ke hana i kahi 'pōkole'. Pēlā nō, ke hōʻino ʻia kēia ʻūpā pale i kapa ʻia ʻo myelin, a i ʻole ke hana pono ʻole ʻia, ʻaʻole hiki i kā mākou mau hunaola nerve ke kamaʻilio pono kekahi me kekahi. ʻAʻole hiki ke hele pono nā leka. ʻO ka mea e hana ʻia ana i ka leukodystrophy, ʻo ia ka hōʻino mau ʻia ʻana o kēia myelin. Hoʻoulu kēia i ka nalowale holomua o ka hana i loko o ka ʻōnaehana nerve. Ua haki ka kamaʻilio ʻana ma waena o ka lolo a me ke koena o ke kino.

Pehea ka maʻamau o kēia ʻano?

ʻO kaʻoiaʻiʻo, ʻaʻole maʻamau ka leukodystrophy. He mea kākaʻikahi loa nā ʻano leukodystrophy a pau. No ka laʻana, ma ʻAmelika Hui Pū ʻIa a me Kanada, hoʻopili ʻia nā ʻano leukodystrophy a pau ma waena o hoʻokahi i loko o 6,000 a me hoʻokahi i loko o 100,000 mau hānau ola. Ma nā ʻāina ʻAsia, ua hōʻike ʻia ka nui o ka maʻi he haʻahaʻa e like me ʻekolu i loko o 100,000 mau hānau ola.

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He aha nā hōʻailona o ka leukodystrophy?

ʻO kēia ka mea paʻakikī loa. No ka mea, hiki ke ʻokoʻa loa nā hōʻailona o ka leukodystrophy. ʻOkoʻa nō hoʻi nā hōʻailona ma muli o ke ʻano o ka maʻi. Eia nō naʻe, i ka hapa nui o nā ʻano leukodystrophy, aia kahi emi mālie o ka hana o ka ʻōnaehana nerve . Hiki i kēia ke hana i nā ʻano hōʻailona like ʻole. ʻAʻole e loaʻa i nā kānaka a pau nā hōʻailona āpau.

Ma keʻano laulā, hiki i kēia mau kūlana ke hoʻopili i nā mea e like me:

• Kaulike i ka wā e hele ana: Hiki ʻole ke hele pono, hāʻule pinepine.
• Ikaika: Manaʻo e like me ka mae ʻana o kou mau lālā, me ka paʻakikī i ka hāpai ʻana a i ʻole ka paʻa ʻana i nā mea.
• ʻIke: Paʻakikī i ke aʻo ʻana, ka hoʻomanaʻo ʻana, a me ka noʻonoʻo ʻana.
• ʻAi ʻana a me ke ale ʻana: Paʻakikī i ke ale ʻana i ka meaʻai, ka ʻū pinepine ʻana.
• Lohe: Poho ka lohe.
• Ka neʻe ʻana a me ka hoʻonohonoho ʻana: ʻAʻole hiki ke hoʻomalu pono i nā lālā, paʻakikī i ka hana ʻana i nā hana ma ke ʻano hoʻonohonoho.
• ʻŌlelo: Ka neʻe ʻana o ka ʻōlelo, ka hiki ʻole ke hoʻopuka pololei i nā huaʻōlelo, a i ʻole ka nalowale mālie ʻana o ka hiki ke ʻōlelo.
• ʻIke: Ka nāwaliwali o ka ʻike, i kekahi manawa ka nalowale loa o ka ʻike.

E noʻonoʻo e pili ana i ia mea, inā he keiki ʻuʻuku ʻoe, ʻoi aku ka lohi o ka ulu ʻana o kāu keiki ma mua o nā keiki ʻē aʻe. ʻOi aku paha ka lohi o ko lākou aʻo ʻana i nā mea hou, ka pāʻani, a me ke kamaʻilio ʻana. Hana ʻia kēia mau mea a pau no ka mea ua hōʻino ʻia ka myelin, a ʻaʻole hele pono nā leka mai ka lolo a i ke kino.

ʻElua mau ʻano nui o leukodystrophy

Ua ʻike nā kānaka noiʻi i nā ʻano leukodystrophy he 50 a ʻoi . A ke ʻike nei lākou i nā ʻano hou. Hoʻokumu ʻia kēlā me kēia ʻano leukodystrophy e kahi mutation genetic ʻokoʻa. ʻO ia hoʻi, kahi loli i nā genes i loko o ko mākou kino. Eia kekahi, he ʻokoʻa nā hōʻailona o kēlā me kēia ʻano. ʻOkoʻa nō hoʻi ka makahiki o ka hoʻomaka ʻana o nā hōʻailona mai kēlā ʻano a i kēia ʻano.

E nānā kākou i kekahi mau laʻana. No ka mea, e lōʻihi loa ka wehewehe ʻana i kēia mau ʻano āpau, e kamaʻilio wale kākou e pili ana i kekahi mau mea nui.

• ʻO Adrenoleukodystrophy (ALD): Hoʻopilikia kēia i ka mea keʻokeʻo o ka lolo a me ke kaula spinal, a me nā kelepa adrenal, ka mea e kaohi i kā mākou mau hormones. Hoʻomaka pinepine nā hōʻailona i ka wā kamaliʻi a i ʻole ka wā makua. E ʻike paha ʻoe i nā mea e like me nā pilikia aʻo, nā loli i ka ʻike a i ʻole ka lohe ʻana, ka paʻakikī i ka hele wāwae, ka luhi, a me ka pohō kaumaha.

• ʻO ka leukodystrophy autosomal-dominant adult-onset (ADLD): ʻIke pinepine ʻia kēia i nā poʻe i ko lākou mau makahiki 40 a 50 paha. Hoʻopilikia ia i ka ikaika, ka neʻe ʻana, a me ka ʻike. Hiki iā ia ke hoʻopilikia i nā mea e like me ke koko a me ka helu o ka puʻuwai .

• Maʻi ʻo Alexander: ʻO kēia ke kumu o ka lohi o ka ulu ʻana o nā keiki, nā hopu ʻana, a me ka paʻakikī i ka hele wāwae. Hoʻopilikia pinepine ia i nā pēpē hānau hou a i ʻole nā ​​​​keiki liʻiliʻi. Eia nō naʻe, aia kekahi mau ʻano maʻi ʻo Alexander e hiki ke hana i nā hōʻailona i nā pākeke.

• ʻO ka maʻi Canavan:I kēia hihia, ua lohi pū ka ulu ʻana o ke keiki, nāwaliwali ke kino, paʻakikī ke ale i ka meaʻai, loaʻa nā ʻōhū, hoʻomaha mau ke keiki, a hiki ke loli ka ʻike. ʻIke pinepine ʻia nā hōʻailona i ka wā kamaliʻi. Eia nō naʻe, aia kekahi mau ʻano maʻi ʻīlio e hōʻike ana i nā hōʻailona ma hope.

• ʻO ka maʻi Krabbe: Ua kapa ʻia hoʻi he globoid cell leukodystrophy . Hoʻomaka pinepine nā hōʻailona i ka wā kamaliʻi. Hoʻokomo lākou i ka nāwaliwali, ka paʻakikī i ka hānai ʻana i ka waiū, ka hoʻomaha ʻole, ka lohi o ka ulu ʻana, ka neuropathy ( ka ʻūlū a me ke kani ʻana ma nā lālā), a me nā hopu ʻana. I kekahi manawa e ʻike ʻia nā hōʻailona ma hope o ke ola.

• ʻO ka leukodystrophy Metachromatic: Hiki ke hana i kēia i nā pēpē, nā kamaliʻi ʻōpio, a i ʻole nā ​​pākeke. Hiki iā ia ke hoʻololi i nā mākau noʻonoʻo, ke ʻano, ka ʻike a i ʻole ka lohe ʻana, nā hopu ʻana, ka neuropathy, ka dementia (nalowale piha o ka hoʻomanaʻo), a me ka makapō.

Nui nā ʻano ʻē aʻe, e like me ka Cerebrotendinous xanthomatosis (CTX) , ka ataxia o ke keiki me ka hypomyelination o ka ʻōnaehana nerve waena (CACH) (i kapa ʻia hoʻi ʻo ka maʻi vanishing white matter (VWM) ), ka maʻi Pelizaeus-Merzbacher (PMD) (ka mea nui e pili ana i nā keikikāne), a me ka maʻi Refsum .

No ke aha e hana ai ka leukodystrophy?

ʻO ke kumu nui o kēia, ʻo ia nā hoʻololi genetic. ʻO ia hoʻi, nā loli i loko o ka DNA i loko o ko kākou kino. Hana ʻia kēia mau loli i loko o nā genes e kuhikuhi ana i ka hoʻokumu ʻia ʻana o kēia uhi pale i kapa ʻia ʻo myelin, a i ʻole pehea e hana pono ai. Me ka ʻole o kēia uhi pale, ʻaʻole hiki i nā hunaola nerve ke hana pono.

Hiki ke hoʻoili ʻia kēia mau hoʻololi genetic mai nā mākua a i kā lākou mau keiki i kekahi manawa. ʻO ia hoʻi, hiki ke hoʻoili ʻia i nā hanauna. Eia nō naʻe, i kekahi manawa hiki ke kū mai kēia mau hoʻololi me ka manaʻo ʻole, i ka ulu ʻana a me ka māhele ʻana o nā cell.

ʻO ka mea nui, hiki i kekahi poʻe ke loaʻa kahi mutation gene e hoʻoulu ai i ka leukodystrophy akā ʻaʻole e loaʻa ka maʻi. Kāhea mākou iā lākou he mau mea lawe. Eia nō naʻe, hiki i kēia mau mea lawe ke hoʻoili i ka mutation i kā lākou mau keiki. Inā he mea lawe ʻoe i kahi mutation gene e hoʻoulu ai i ka leukodystrophy, makemake paha ʻoe e noʻonoʻo i ke aʻoaʻo genetic . E nānā kekahi kākā'ōlelo genetic i kou mōʻaukala ʻohana a kōkua iā ʻoe e hoʻoholo i kou pilikia o ka hoʻoili ʻana i ka mutation i kāu mau keiki.

Aia kekahi mau mea pilikia e hoʻopilikia ai i kēia?

ʻO ka ʻoiaʻiʻo, ʻaʻohe kumu pilikia kikoʻī e hiki ke pale aku i ka leukodystrophy. ʻO kēia no ka mea he genetic ia. Eia nō naʻe, ua ʻike ʻia kekahi mau hui lāhui e ʻoi aku ka nui o ka loaʻa ʻana o kekahi mau ʻano leukodystrophy. Hoʻopilikia like ka hapa nui o nā ʻano leukodystrophy i nā kāne ʻelua. Eia nō naʻe, ʻo kekahi mau ʻano, e like me ka maʻi Pelizaeus-Merzbacher (PMD), pili nui i nā keikikāne.

Pehea e ʻike ʻia ai ka leukodystrophy?

E nīnau mua kāu kauka iā ʻoe e pili ana i kāu mau hōʻailona a nīnau e pili ana i kou mōʻaukala olakino pilikino a me kou ʻohana. A laila e hana lākou i kahi hoʻokolohua kino a me kahi hoʻokolohua neurological.

Hiki iā ʻoe ke hana i kekahi mau hoʻokolohua hou aʻe:

• Nā hoʻokolohua nānā ʻana i nā keiki hānau hou: Ma kekahi mau ʻāina, hoʻohana ʻia kēia mau hoʻokolohua e ʻike i kekahi mau ʻano leukodystrophies.
• Nā hoʻāʻo koko a me ka lawai ( hoʻāʻo genetic ): Hiki i kēia ke ʻike i nā hoʻololi genetic i loko o kāu DNA.
• Nā hoʻokolohua kiʻi: No ka laʻana , hiki ke hana ʻia kahi scan MRI e nānā i ke kūlana o ka mea keʻokeʻo i loko o ka lolo a me ke kaula spinal.

ʻOiai me kēia mau hoʻokolohua a pau, hiki ke paʻakikī ka ʻike ʻana i ka leukodystrophy i kekahi manawa no ka mea he ʻokoʻa loa nā hōʻailona. I kekahi manawa, nui nā kūlana leukodystrophy i ʻike ʻole ʻia.

He aha nā lāʻau lapaʻau no ka leukodystrophy?

ʻO kēia ka mea nui loa e pono ai kākou a pau e ʻike. ʻAʻohe lāʻau lapaʻau no ka leukodystrophy i kēia manawa. Akā, ʻaʻole ia he manaʻo ʻaʻohe mea hiki iā kākou ke hana. Nui nā mea hiki iā kākou ke hana e kāohi i nā hōʻailona, ​​e maʻalahi iki ke ola, a mālama i kekahi o nā hana o ka ʻōnaehana nerve.

Hiki i kēia mau lāʻau lapaʻau ke komo pū me:

• Lāʻau lapaʻau no ka maʻi ʻūlū, ka paʻa ʻana o nā ʻiʻo, a me nā pilikia neʻe.
• ʻO ka lāʻau lapaʻau meaʻai a i ʻole ka hoʻohana ʻana i nā ʻōheu hānai no nā pilikia ʻai a me ke ale ʻana.
• ʻO ka lāʻau lapaʻau hormone no nā pilikia me ka hana o ke kelepa adrenal.
• ʻO ka hoʻōla kino, ka hoʻōla hana, a me ka hoʻōla ʻōlelo e hoʻomaikaʻi i nā mākau e like me ka hele wāwae, ke kaulike, a me ka ʻōlelo ʻana.

He koho lapaʻau hou ka Gene therapy no kekahi mau ʻano leukodystrophies. Pili ia i ka hoʻokomo ʻana i nā mea genetic i loko o nā cell e hoʻololi i ke ʻano o kā lākou hana ʻana i kekahi mau protein.

Hiki i kahi hoʻoili ʻana o nā cell kumu a i ʻole ka hoʻoili ʻana o ka iwi iwi ke hoʻomaikaʻi i nā hōʻailona o kekahi mau ʻano leukodystrophy. Eia nō naʻe, he palena wale nō kēia lāʻau lapaʻau i nā hihia he nui. Inā ʻike mua ʻia ka cerebrotendinous xanthomatosis (CTX), hiki ke hoʻohana ʻia kahi lāʻau i kapa ʻia ʻo chenodeoxycholic acid (CDCA) e mālama ai.

Eia kekahi, aia kekahi mau hoʻokolohua lapaʻau e hana ʻia nei e ʻimi i nā lāʻau lapaʻau no kekahi mau ʻano leukodystrophy. No laila, inā loaʻa iā ʻoe a i ʻole kāu keiki kēia maʻi, hiki iā ʻoe ke kamaʻilio me kāu kauka e ʻike inā kūpono kēia koho lapaʻau hou iā ʻoe.

He aha ke manaʻolana e ola ai me ka leukodystrophy?

He kumuhana paʻakikī a koʻikoʻi kēia e kamaʻilio ai. He maʻi holomua ka Leukodystrophy e hoʻoulu ai i nā pilikia me ka ʻōnaehana nerve i ka hala ʻana o ka manawa. Nui nā keiki me ka leukodystrophy e make ma mua o ko lākou hiki ʻana i ka wā makua. Eia nō naʻe, ola kekahi poʻe i ka wā makua. ʻOiai he make pinepine kēia mau maʻi, ua lawe mai nā lāʻau lapaʻau hou a me nā hoʻokolohua lapaʻau i kekahi manaʻolana i ka poʻe me ke ʻano.

Nā mea nui a mākou e hoʻomanaʻo ai (Leka Lawe-Home)

He maʻi laha ʻole ka Leukodystrophy, he maʻi hoʻoilina o ka ʻōnaehana nerve. Hoʻopōʻino ia i ka uhi pale i kapa ʻia ʻo myelin e hoʻopuni ana i nā aʻalolo i loko o ka lolo a me ke kaula spinal. Me ka ʻole o ka myelin, ʻaʻole hiki i nā aʻalolo ke kamaʻilio pono, e hopena ana i nā ʻano hōʻailona like ʻole.

ʻOiai ʻaʻohe lāʻau lapaʻau no kēia, aia nā lāʻau lapaʻau a me nā ʻano lapaʻau like ʻole e kāohi i nā hōʻailona a hoʻomaʻalahi i ke ola. Ua hōʻike ʻia nā noiʻi hou i nā hopena holomua i ka mālama ʻana i kēia mau kūlana. E hoʻomanaʻo, aia mau ka hui lapaʻau o kāu keiki me ʻoe, e hāʻawi ana i ka mālama maikaʻi loa no kāu keiki. He mea nui loa ia ʻaʻole e hopohopo, e ʻimi mua i ka ʻōlelo aʻo lapaʻau a e ʻike i ka ʻike kūpono.

ʻO ka Leukodystrophy, myelin, mea keʻokeʻo, nā maʻi neurological, nā hoʻololi genetic, nā maʻi pediatric, ʻōnaehana nerve