Ua ʻike anei ʻoe i ka maʻi ʻo Alexander? E kamaʻilio kākou e pili ana i kēia maʻi laha ʻole!

Ua lohe paha ʻoe i ka maʻi ʻo Alexander? ʻAʻole paha ʻoe i lohe i ia mea. ʻO ke kumu, he maʻi neurological kakaʻikahi loa ia ma ka honua. Akā, he mea kūpono ia e loaʻa ka ʻike e pili ana i nā maʻi e like me kēia, ʻeā? ʻOiai ke hopohopo mau nei mākou no ke olakino a me ka ulu ʻana o kā mākou mau keiki, he mea nui e makaʻala i nā mea e like me kēia.

He aha ka maʻi ʻo Alexander? E hoʻomaopopo maʻalahi kākou!

ʻAe, e nānā kākou i ke ʻano o ka maʻi ʻo Alexander. I ka ʻōlelo maʻalahi, he maʻi ia e hoʻopilikia ana i kā mākou ʻōnaehana nerve, ka ʻōnaehana e lawe ana i nā leka ma ke kino holoʻokoʻa . ʻO ke kikoʻī, hoʻopilikia ia i ka "mea keʻokeʻo" i loko o ko mākou lolo. ʻO kēia mea keʻokeʻo ka ʻāpana o ka lolo i hana ʻia me nā olonā nerve he nui.

No kēia maʻi kahi hui o nā maʻi i kapa ʻia ʻo leukodystrophy . ʻOiai paha e kani iki kēia huaʻōlelo me he mea paʻakikī, pili ia i nā maʻi e hōʻino ana i ka mea keʻokeʻo o ka lolo.

I ka maʻi Alexander, ʻo ka pōʻino nui ka ʻāpana i kapa ʻia ʻo myelin . ʻO Myelin kahi uhi pale e puni ana i ko mākou mau olonā nerve. E noʻonoʻo e like me ka ʻūpā plastik e puni ana i kahi uea uila. ʻO kēia ʻūpā myelin ka mea e hiki ai i nā leka nerve ke hele mālie a wikiwiki. No laila, ke hōʻino ʻia kēia myelin, ua hoʻopilikia ʻia ke kaʻina hana o ka hoʻouna ʻana i nā leka nerve.

ʻO ka hopena, hiki i ke kanaka me ka maʻi Alexander ke loaʻa i nā pilikia like ʻole, e like me ka lohi o ka ulu ʻana a me nā hopu ʻana . ʻO ka mea pōʻino, he maʻi holomua kēia, i kekahi manawa he mea hoʻoweliweli i ke ola. ʻAʻohe lāʻau lapaʻau no ia i kēia manawa .

Pehea ka maʻamau o kēia maʻi?

He maʻi laha ʻole ka maʻi ʻo Alexander. Ua manaʻo ʻia e loaʻa kēia maʻi ma kahi o hoʻokahi i loko o hoʻokahi miliona mau hānau ʻana . Ua ʻike mua ʻia ka maʻi i ka makahiki 1949 e Kauka W. Stewart Alexander , he kauka ʻAukekulelia. ʻO ia ke kumu i kapa ʻia ai ʻo ia ka maʻi ʻo Alexander.

Aia kekahi mau ʻano o ka maʻi Alexander?

ʻAe, hoʻokaʻawale nā ​​kauka i kēia maʻi e like me ka makahiki e hoʻomaka ai nā hōʻailona e ʻike ʻia. Aia kekahi mau ʻano nui:

• ʻAno hānau hou: He mea kākaʻikahi loa kēia. ʻIke ʻia nā hōʻailona i loko o ka mahina mua o ke ola.
• ʻAno pēpē: ʻO kēia ʻano ka helu no kahi 80% o nā maʻi i hōʻike ʻia e ka maʻi Alexander. Hoʻomaka pinepine nā hōʻailona ma mua o ka piha ʻana o 2 mau makahiki .
• ʻAno ʻōpio: Hiki ke ʻike ʻia nā hōʻailona ma waena o nā makahiki 2 a me 13. Eia nō naʻe, ʻoi aku ka maʻamau ma waena o nā makahiki 4 a me 10. Ma kahi o 14% o nā maʻi āpau.No kēia ʻano.
• ʻAno pākeke: ʻAʻole maʻamau kēia. He palupalu nā hōʻailona. Hiki ke loaʻa ke ʻano i kēlā me kēia makahiki ma hope o ka wā ʻōpio . Ma kahi o 6% o nā maʻi i hāʻule i loko o kēia ʻano.

He aha ke kumu o ka maʻi Alexander?

I loko o 95% o nā hihia o ka maʻi Alexander, loaʻa kahi mutation i loko o kahi gene . Kōkua kēia gene i ka hana ʻana i kahi protein i kapa ʻia ʻo Glial Fibrillary Acidic Protein (GFAP) . ʻO ka mea pōʻino, ʻaʻole ʻike ʻia ke kumu o ke koena o 5% o nā hihia.

ʻO ka maʻamau, hui pū kēia mau protein GFAP e hana i nā kaulahao lōʻihi (filaments). Hāʻawi kēia mau kaulahao i ka ikaika a me ke kākoʻo i nā pūnaewele o kā mākou ʻōnaehana nerve.

Eia nō naʻe, i loko o ka poʻe me ka maʻi Alexander, ʻaʻole i hana pono ʻia kēia protein GFAP. Akā, hōʻiliʻili nā puʻupuʻu protein ʻano ʻē i kapa ʻia ʻo Rosenthal fibers ma nā wahi i loko o nā cell kahi i pono ʻole ai lākou. ʻO kēia mau fibers Rosenthal ka mea e hōʻino ai i ka myelin i ʻōlelo ʻia ma mua.

ʻO wai ka mea i ʻoi aku ka pilikia o ka loaʻa ʻana o kēia maʻi?

ʻOiaʻiʻo, hiki i kekahi ke loaʻa i kēia maʻi. ʻO ka hapa nui o ka manawa, hiki ke loli ka gene i ka manawa kūpono ʻole, me ke kumu ʻole. He mea kākaʻikahi loa i kahi keiki ke hoʻoilina i kēia loli genetic mai ko lākou mau mākua. ʻO ke ʻano kēia, ʻaʻohe moʻolelo ʻohana o ka hapa nui o ka poʻe i kēia maʻi.

He aha nā hōʻailona o ka maʻi Alexander?

Hiki ke ʻokoʻa nā hōʻailona o kēia maʻi mai kēlā kanaka a kēia kanaka. Eia kekahi, ʻokoʻa nā hōʻailona ma muli o ka makahiki (ʻano) i hoʻomaka ai ka maʻi.

Nā hōʻailona o ka hānau hou ʻana:

Hōʻike ʻia kēia mau hōʻailona i ka mahina mua o ke ola.

• Hydrocephalus: He hōʻiliʻili ʻana kēia o ka wai i loko o ka lolo o ke keiki. Hiki i kēia ke hoʻonui i ke poʻo.
• Megalencephaly: Hoʻonui ʻia ka lolo a me ke poʻo ma ke ʻano kūpono ʻole.
• Nā Huʻi/Epilepsy: Nā kūlana pinepine e like me ka huʻi.
• Spasticity: ʻOʻoleʻa o nā ʻiʻo, emi ka maʻalahi.
• Nā lohi o ka ulu ʻana: ʻO ka hiki ʻole o ke keiki ke ulu i ka wikiwiki kūpono i kona makahiki. No ka laʻana, hiki ke lohi ka ikaika o ka ʻāʻī, ka ʻōwili ʻana, a me ka noho ʻana i luna.
• ʻO ka hiki ʻole ke ulu pono a i ʻole ka loaʻa ʻana o ke kaumaha.

Nā hōʻailona o ka pēpē:

Hoʻomaka pinepine kēia mau hōʻailona i loko o nā mahina ʻeono mua, akā hiki i kekahi manawa ke hoʻomaka a hiki i 24 mau mahina, a i ʻole ma kahi o ʻelua mau makahiki. Ua like loa nā hōʻailona me nā mea i ʻike ʻia i ka wā hānau hou.

Nā hōʻailona o ka hoʻomaka ʻana o ka ʻōpio:

ʻIke pinepine ʻia kēia mau hōʻailona ma waena o nā makahiki 4 a me 10.

• Ka paʻakikī i ka moni ʻana a me ka ʻōlelo ʻana.
• ʻAtaxia:Pili kēia i nā pilikia me ke kaulike, ka hoʻonohonoho ʻana, a me ka neʻe ʻana, e like me ka hiki ʻole ke hele a i ʻole ka paʻakikī i ka hopu ʻana i nā mea.
• Nā pilikia ʻiʻo: nā mea e like me ka ʻoʻoleʻa o nā ʻiʻo (spasticity), ʻeha ʻiʻo, nā spasms ʻiʻo.
• Ka luaʻi pinepine ʻana.

Nā hōʻailona o ka hoʻomaka ʻana o ka pākeke:

Hiki ke ʻike ʻia kēia mau hōʻailona i kēlā me kēia manawa i ka wā makua. Ua like pinepine lākou me nā mea i ʻike ʻia i ka wā kamaliʻi, akā hiki nō hoʻi ke loaʻa nā haʻalulu . I kekahi manawa hiki i kēia mau hōʻailona ke hoʻohālike i nā maʻi ʻē aʻe, e like me ka maʻi Parkinson a i ʻole ka sclerosis maha , no laila he mea nui e loaʻa kahi hōʻailona pololei.

Pehea e hōʻike ai i ka maʻi Alexander?

E nānā pono mua kāu kauka iā ʻoe a i ʻole nā ​​hōʻailona o kāu keiki. Eia kekahi, hiki iā lākou ke hana i nā hoʻokolohua e like me:

• MRI scan (MRI - Magnetic Resonance Imaging): Hiki i kēia ke nānā i nā loli i loko o ka lolo. Ma ke ʻano kūikawā, hiki i ka MRI ke hōʻike i nā loli i loko o ka mea keʻokeʻo, e like me nā hōʻailona o nā olonā Rosenthal.
• Hoʻāʻo hoʻoilina: He hoʻāʻo koko kēia e hiki ke hōʻoia inā he mutation i loko o ka gene GFAP e hoʻoulu ai i ka maʻi Alexander.

Pehea e mālama ʻia ai kēia maʻi? Pehea e mālama ʻia ai?

ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau no ka maʻi ʻo Alexander. ʻO ke kumu nui o nā lāʻau lapaʻau o kēia manawa ke kāohi i nā hōʻailona a hoʻolohi i ka holomua o ka maʻi .

Eia nō naʻe, ke hoʻomau nei nā kānaka ʻepekema i nā hoʻokolohua lapaʻau e ʻimi i nā lāʻau lapaʻau hou no kēia maʻi. Hiki iā ʻoe ke kamaʻilio me kāu kauka e pili ana inā kūpono kēia ʻano hoʻokolohua iā ʻoe a i ʻole kāu keiki.

Ma muli o nā hōʻailona, ​​​​hiki ke hoʻohana ʻia nā lāʻau lapaʻau penei:

• Nā lāʻau lapaʻau anti-sizure.
• Hoʻōla kino, hoʻōla hana, a me ka hoʻōla ʻōlelo. Kōkua kēia 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.
• No ka hydrocephalus, kahi kūlana kahi e hōʻiliʻili ai ka wai i loko o ka lolo, hiki ke hana ʻia ke ʻoki shunt . Hoʻopau kēia i ka wai keu mai ka lolo.

He aha nā pilikia o ka maʻi ʻo Alexander?

Hiki ke ʻoi aku ka ʻino o nā hōʻailona o ka maʻi Alexander i ka hala ʻana o ka manawa. No laila, pono paha i ka mea maʻi nā mea e like me:

• Nā mea hana e kōkua ai i ka hele wāwae, e like me nā noho huila a i ʻole nā ​​mea hele wāwae.
• No ka loaʻa ʻana o ka meaʻai kūpono, pono paha ka hānai ʻana me ka paipu ( meaʻai enteral ).

He aha ka wā e hiki mai ana (prognosis) no ka poʻe me kēia maʻi?

He mea paʻakikī iki ka wānana ʻana i ka wā e hiki mai ana o ka poʻe me ka maʻi Alexander, no ka mea, he ʻokoʻa ia mai kēlā kanaka a kēia kanaka . I ka holomua ʻana o ka maʻi, hiki i nā hōʻailona ke ʻoi aku ka ʻino i ka hala ʻana o ka manawa, ʻoi aku hoʻi i nā keiki. ʻOkoʻa ke ʻano a me ka lōʻihi o nā hōʻailona ma muli o ke ʻano o ka maʻi:

• ʻO nā pēpē me ke ʻano neonatal he kīnā nui ko lākou, a nui ka poʻe e make ma mua o ʻelua makahiki .
• Hiki i nā keiki me ke ʻano pēpē ke ola no kahi o ʻelima a ʻumi mau makahiki .
• Hiki i nā keiki me ke ʻano hoʻomaka ʻōpiopio ke ola a hiki i ko lākou mau makahiki 30 a 40 paha .
• ʻO kekahi poʻe me ke ʻano makua-hoʻomaka he mau hōʻailona liʻiliʻi loa, a i ʻole hiki ke asymptomatic. I ka hapanui o nā hihia, ʻaʻole hoʻopilikia ka maʻi i ko lākou ola.

He mea maʻamau ke kaumaha ke lohe ʻoe i kēia mau mea. Akā, ʻo ka ʻike ʻana i kēia ʻike e kōkua iā ʻoe e hoʻomaopopo i ka maʻi.

Hiki ke pale ʻia ka maʻi Alexander?

I ka hapanui o nā hihia, ʻaʻole hiki i nā loea ke ʻōlelo pololei i ke kumu o ka loli o ka gene e hana ai ʻo Alexander syndrome. No laila, i ka hapanui o nā hihia, ʻaʻohe ala e pale aku ai i kēia maʻi.

Eia nō naʻe, inā loaʻa i kekahi o kou ʻohana ka maʻi Alexander a i ʻole kekahi ʻano leukodystrophy ʻē aʻe, he manaʻo maikaʻi ke kamaʻilio ʻana me kahi kākāʻōlelo genetic . E kōkua kēia iā ʻoe e hoʻomaopopo i ka pilikia o kāu mau keiki e hiki mai ana e hoʻoilina i ka maʻi. Hiki paha iā ʻoe ke noʻonoʻo i kahi kaʻina hana i kapa ʻia ʻo Preimplantation Genetic Diagnosis (PGD) . Pili kēia i ke koho ʻana i nā embryos olakino ʻaʻohe o ka mutation gene GFAP e hoʻoulu ai i ka maʻi Alexander a me ke kanu ʻana iā lākou i loko o ka ʻōpū ma o ka in vitro fertilization (IVF) .

I ka manawa hea e pono ai iaʻu ke ʻike i ke kauka?

Inā loaʻa iā ʻoe a i kāu keiki paha ka maʻi ʻo Alexander, e ʻike koke i ke kauka inā loaʻa iā ʻoe kekahi o kēia mau hōʻailona:

• Ka paʻakikī me ke kaulike a i ʻole ka hele wāwae.
• Ka paʻakikī i ka hanu ʻana, ka moni ʻana, ka ʻai ʻana, a i ʻole ka ʻōlelo ʻana.
• Ka luaʻi a me ka luaʻi.
• Nā ʻōʻili.

He aha nā nīnau e pono iaʻu e nīnau aku i kaʻu kauka?

Hiki iā ʻoe ke nīnau i ke kauka i nā nīnau penei:

• He aha ke ʻano o ka maʻi Alexander i loaʻa iaʻu (a i ʻole kaʻu keiki)?
• He aha ka lāʻau lapaʻau maikaʻi loa?
• He manaʻo maikaʻi anei ka loaʻa ʻana o ka hoʻāʻo genetic no ka Alexander syndrome no nā lālā ʻē aʻe o ka ʻohana?
• He aha nā hōʻailona o nā pilikia e pono iaʻu e makaʻala?

ʻO ka mea hope loa, leka lawe i ka home

He maʻi holomua ka maʻi ʻo Alexander no ke ola holoʻokoʻa.He maʻi olakino. He mea kākaʻikahi loa kēia a hiki ke holo i kekahi manawa i loko o nā ʻohana. Hiki i nā hoʻokolohua genetic ke ʻike i ka ʻokoʻa genetic e hoʻoulu ai i kēia maʻi.

ʻOiai ʻaʻohe lāʻau lapaʻau, aia nā lāʻau lapaʻau e hiki ke kōkua i ka hōʻoluʻolu ʻana i nā hōʻailona a hoʻomaikaʻi i ke ʻano o ke ola. Ke hoʻomau nei nā kānaka ʻepekema i ka noiʻi ʻana e ʻike i nā lāʻau lapaʻau maikaʻi aʻe no kēia maʻi laha ʻole.

Ke lana nei koʻu manaʻo e kōkua ka ʻike ʻana i kēia ʻike iā ʻoe e hoʻomaopopo i ka maʻi a e ʻimi koke i ka ʻōlelo aʻoaʻo lapaʻau inā pono. E hoʻomanaʻo mau, ʻaʻole ʻoe hoʻokahi, a hiki iā ʻoe ke loaʻa ke kōkua āu e pono ai.

ʻO ka maʻi ʻo Alexander, ka maʻi Neurological, ka maʻi Genetic, Myelin, Leukodystrophy, ka maʻi pediatric