E aʻo kākou e pili ana i ka maʻi Lafora. Loaʻa i kāu keiki kēia mau hōʻailona?

Ke ʻano nei anei kāu keiki e hoʻoluliluli mau ana i nā manawa a pau? A i ʻole ke pilikia nei ʻo ia i ka noʻonoʻo ʻana i nā hana kula? Ua ʻike paha ʻo ia i kahi loli i kāna ʻōlelo a i ʻole kāna ʻano? ʻO kēia nā mea a mākou e nānā ʻole ai i kekahi manawa, akā he mau hōʻailona paha ia o kahi maʻi laha ʻole i kapa ʻia ʻo Lafora Disease. No laila e kamaʻilio iki kākou e pili ana i kēia i kēia lā, ʻeā?

He aha ka maʻi Lafora?

I ka ʻōlelo maʻalahi, he ʻano maʻi epilepsy ka maʻi Lafora. Hōʻike ʻia ia e nā hoʻouka pinepine (nā hopu ʻana) a me ka emi mālie ʻana o ka hiki o ke keiki ke noʻonoʻo, hoʻomanaʻo, a hoʻomaopopo i nā mea (hana noʻonoʻo). Hiki paha iā ʻoe ke lohe i ke kauka e kapa ana iā ia ʻo 'Lafora progressive myoclonus epilepsy'. ʻO ia ka inoa lapaʻau piha no ia mea.

Hoʻomaka pinepine kēia mau hōʻailona i ka wā kamaliʻi hope, ma kahi o ʻewalu makahiki, a i ʻole i ka wā makua mua. ʻO ka mea kaumaha, ʻoi aku ka ʻino o kēia mau hōʻailona i ka hala ʻana o ka manawa. ʻOiai me ka mālama ʻana, hiki i ka maʻi Lafora ke hoʻoulu i nā pilikia e hoʻoweliweli i ke ola i loko o 10 mau makahiki. Eia nō naʻe, me ka noiʻi hou a me nā lāʻau lapaʻau i hoʻomaikaʻi ʻia, ke ola nei kekahi mau keiki ma mua o ka mea i manaʻo ʻia. No laila, mai hoʻokuʻu i ka manaʻolana.

Ke hoʻopilikia nei kēia maʻi Lafora i nā kānaka he nui?

ʻAe, he maʻi laha ʻole kēia. Hōʻike nā haʻawina i hana ʻia a puni ka honua he ʻehā no ka miliona mau kānaka e loaʻa ana i kēia maʻi i kēlā me kēia makahiki. Eia nō naʻe, ʻoi aku paha kēia helu. ʻO kēia no ka mea ʻaʻole i ʻike pono ʻia kekahi poʻe a ʻaʻole paha i hōʻike ʻia ka maʻi, no laila e like paha kēia mau helu me he mea lā he haʻahaʻa.

He aha nā hōʻailona o ka maʻi Lafora?

Hiki i kekahi keiki me ka maʻi Lafora ke loaʻa i hoʻokahi a ʻoi aku paha o nā hōʻailona penei:

• Nā ʻūhū: ʻO kēia ka hōʻailona nui.
• Ka emi ʻana o ka ʻike: ʻAʻole hiki i ke keiki ke hoʻomaopopo i nā haʻawina a paʻakikī paha iā ia ke aʻo i nā mea hou.
• Paʻakikī i ka ʻōlelo ʻana: Hiki ke lohe ʻia ka ʻōlelo ʻana me ka hū ʻole a me ka lohi o ka ʻōlelo ʻana.
• ʻO ka nalowale o ke kaulike, e like me ka wili ʻana i ka wā e hele ana (nā pilikia kaulike a me ka hoʻonohonoho ʻana): ʻO ke kikoʻī, hiki ke paʻakikī ke hele ma kahi laina pololei, e like me ka hana hewa ʻana i ka wā e paʻa ai i nā mea.
• ʻOʻoleʻa o nā ʻiʻo (spasticity): Lilo i mea paʻakikī ke kulou a hoʻopololei paha i nā lālā, a ʻoʻoleʻa ke kino.
• Nā loli o ke ʻano: Hiki iā ʻoe ke lilo i mea paʻakikī ma mua o ka wā ma mua, a i ʻole e huhū wale paha ʻoe.
• Nā loli o ke ʻano: I kekahi manawa, hiki ke loaʻa nā kūlana e like me ke kaumaha , ʻo ia hoʻi ke kaumaha mau nei ʻoe, me ka ʻole o ka hoihoi i kekahi mea. A i ʻole hiki iā ʻoe ke hoʻomohala i ka manaʻo ʻole.
• ʻO ka nalowale o ka hoʻomanaʻo a me nā kūlana e like me ka dementia: Poina iā ʻoe nā mea liʻiliʻi loa, a i ka hala ʻana o ka manawa, ʻaʻole paha ʻoe e hoʻomanaʻo i kou ʻano a i kou wahi paha.

Nā ʻano hopu i ʻike ʻia ma ka maʻi Lafora

Loaʻa paha i kāu keiki nā ʻano maʻi like ʻole me ka maʻi Lafora. E nānā kākou i ke ʻano o ia mau mea:

• Nā kuʻi ʻana o Myoclonic: He wikiwiki loa kēia, koke, a me nā ʻūlū ʻana o nā ʻiʻo me ka manaʻo ʻole. Hiki iā lākou ke pōkole, e like me ka hoʻoluliluli ʻana o ka uila. ʻIke pinepine ʻia kēia ʻano kuʻi ʻana ma ka maʻi Lafora.
• Nā hopu ʻana o ka Occipital: Hiki i kēia ke hoʻolilo koke i ka nalowale o ka ʻike, a i ʻole nā ​​​​​​hallucinations.
• Nā hopu ʻana o Tonic-clonic: ʻO kēia ka mea a ka poʻe he nui e kapa nei he "hopu." Lilo nā ʻiʻo o ke kino i ʻoʻoleʻa a ʻūlū.
• Nā kuʻi ʻana o ka naʻau: Ma kēia, ua oki koke ke keiki i ka hana ʻana i kekahi mea a haka wale i ka lewa. Hoʻi hou lākou i ka ʻike i loko o kekahi mau kekona.
• Nā hopu ʻāpana paʻakikī: Hiki paha i kēia ke pili i ka nānā hakahaka, ka haʻalulu ʻana o nā lālā me ka ʻole o ka manaʻo, a i ʻole ka hana hou ʻana i ka mea like.
• ʻO nā kuʻi ʻana o Atonic: ʻO kēia ka wā e nalowale koke ai ka ikaika o nā ʻiʻo o ke kino, e hāʻule ai ke keiki i ka honua.

ʻOi aku ka koʻikoʻi o kēia mau maʻi i ka holomua ʻana o ka maʻi a me ka pinepine ʻana. ʻOiai hiki i nā kauka ke hoʻomalu iā lākou i nā pae mua, lilo ia i mea paʻakikī i ka hala ʻana o ka manawa.

Pehea e hoʻonui mālie ai nā hōʻailona o Lafora

ʻOi aku ka ʻino o nā hōʻailona o ka maʻi Lafora i ka hala ʻana o ka manawa. Hiki i kēia ke mau mai kekahi mau mahina a i kekahi mau makahiki. I ka wā mua, hoʻomaka kēia mau hōʻailona ma ke ʻano he mau mea hoʻonāukiuki liʻiliʻi, akā e kaupalena mālie i ka hiki o ke keiki ke hana i nā hana o kēlā me kēia lā a launa pū me nā poʻe ʻē aʻe.

E noʻonoʻo, ma kahi o ʻeono mau makahiki ma hope o ka ʻike ʻia ʻana me ka maʻi Lafora, kokoke i ka hapalua o nā maʻi e nalowale ana i ka mana o kā lākou neʻe ʻana . ʻAʻole hiki i kāu keiki ke hele, kamaʻilio, a noho paha i luna ma o lākou iho. I kekahi manawa, pono paha lākou i ka mālama 24-hola e hōʻoluʻolu ai iā lākou. He mea kaumaha kēia ke lohe ʻia, akā he mea nui e ʻike i kēia mau mea.

I ka manawa hea e hoʻomaka ai nā hōʻailona o Lafora?

Hoʻomaka pinepine nā hōʻailona o Lafora ma waena o 8 a me 19 mau makahiki. ʻO ka mea maʻamau ma waena o 14 a me 16 mau makahiki. Eia nō naʻe, i kekahi manawa hiki i kēia maʻi ke hoʻopilikia i nā keiki ʻōpio e like me 5 mau makahiki.

He aha ke kumu o kēia maʻi Lafora?

ʻO ke kumu nui o ka maʻi Lafora he loli hoʻoilina.ʻO ka pololei, ua hoʻokumu ʻia ka maʻi e kahi mutation i loko o nā genes `EPM2A` a i ʻole `EPM2B (NHLRC1)`. Penei ka hana ʻana: Ke hāpai ʻia kahi keiki, pono i ke keiki ke loaʻa i hoʻokahi kope o kēia gene mutated mai ka makuahine a me ka makuakāne. Ma nā ʻōlelo lapaʻau, ua kapa ʻia kēia he hoʻoilina `autosomal recessive` .

ʻO kēia mau genes, i kapa ʻia ʻo `EPM2A` a i ʻole `EPM2B`, ke kuleana no ka hoʻoponopono pono ʻana i kahi mea i kapa ʻia ʻo glycogen e mālama ana i ka ikehu i loko o ko mākou kino. I kēia manawa, ke loli kēia mau genes, lilo nā kuhikuhi no ka hoʻoponopono pono ʻana i ka glycogen i huikau. ʻO ka mea e hana ʻia a laila, ʻaʻole hoʻohana pono ʻia kēia glycogen, a hana ʻia nā puʻupuʻu liʻiliʻi (i kapa ʻia he kino Lafora) . Hoʻokomo ʻia kēia mau kino Lafora i loko o nā pūnaewele o kā mākou ʻōnaehana nerve, nā ʻiʻo, nā ʻōpū o loko, a me nā ʻiʻo. A laila, ʻaʻole hiki i kā mākou ʻōnaehana nerve a me nā ʻōpū ʻē aʻe kahi i waiho ʻia ai kēia mau kino Lafora ke hana pono. ʻO ia ke kumu o nā hōʻailona o ka maʻi Lafora. Maopopo iā ʻoe?

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

Hiki i kekahi ke loaʻa i ka maʻi Lafora, akā ʻoi aku ka maʻamau i ka poʻe e noho ana ma nā ʻāina a puni ka ʻāina Mediterranean (e like me Sepania, Palani, a me Italia), nā ʻāina o ʻApelika ʻĀkau, India, a me Pakitana .

He aha nā pilikia e hiki mai ana o ka maʻi Lafora?

Hiki i ka maʻi Lafora ke hoʻoulu i kahi kūlana i kapa ʻia ʻo 'status epilepticus', ʻo ia hoʻi ke kūlana e hoʻomau ai nā hopu ʻana no nā minuke he 15 a ʻoi aku i ka manawa, a i ʻole ke pau ka hopu ʻana a ukali ʻia e kekahi hopu ʻana ma mua o ka loaʻa ʻana o ka ʻike. He pilikia olakino hoʻoweliweli kēia.

Ke lilo ka maʻi Lafora i mea koʻikoʻi, hōʻiliʻili nā kino Lafora aʻu i ʻōlelo ai ma mua i loko o ke kino, e hana hewa ai nā ʻāpana kino o ke keiki, i kekahi manawa e hoʻōki loa iā lākou. ʻO kēia ke kumu o ka make wikiwiki ʻana mai kēia maʻi.

Pehea e ʻike ʻia ai ka maʻi Lafora?

ʻO ka maʻamau, ke hoʻomaka ke keiki e loaʻa i ka maʻi ʻōʻili, e ʻike nā mākua a i ʻole nā ​​kahu i ke kauka. E hana ke kauka i kahi hoʻokolokolo kino, kahi hoʻokolokolo neurological, a nīnau e pili ana i nā hōʻailona o kāu keiki a me ka mōʻaukala olakino.

A laila, e kauoha lākou i kekahi mau hoʻokolohua e ʻike ai i ke kumu maoli o kēia mau hōʻailona. Hiki i kēia mau hoʻokolohua ke komo pū me:

• EEG (Electroencephalogram - EEG): Ke ana kēia i ka hana uila o ka lolo.
• MRI (Magnetic Resonance Imaging - MRI): Lawe kēia i kahi kiʻi kikoʻī o ka lolo.
• ʻIli biopsy: I kekahi manawa e lawe ʻia kahi ʻāpana ʻili liʻiliʻi a nānā ʻia no nā kino Lafora.
• Hoʻāʻo hoʻoilina:E hōʻoia kēia inā he mau loli i loko o nā genes aʻu i ʻōlelo ai ma mua.

Ma kēia ʻano, pono paha ʻoe e ʻike i kekahi mau kauka a holo i kekahi mau hoʻokolohua e ʻike pololei i ke kūlana o kāu keiki. Akā e hoʻomanaʻo, ua hoʻolālā ʻia nā hoʻokolohua āpau e kāpae i nā kūlana ʻē aʻe me nā hōʻailona like a kōkua iā ʻoe e loaʻa ka lāʻau kūpono no kāu keiki.

Pehea e mālama ʻia ai ka maʻi Lafora?

ʻO ka ʻoiaʻiʻo, ʻaʻohe lāʻau lapaʻau no ka maʻi Lafora i kēia manawa . ʻO ke kumu nui o nā lāʻau lapaʻau o kēia manawa ke kāohi ʻana i nā hōʻailona. Hiki i kēia mau mea ke komo pū me:

• Nā lāʻau lapaʻau antiseizure e kāohi i ka hoʻomaka ʻana o ka maʻi.
• No nā maʻi hoʻouka kaua myoclonic, hiki ke hāʻawi ʻia nā lāʻau lapaʻau e like me valproic acid, perampanel, a i ʻole benzodiazepines .
• Hiki i ka hoʻoikaika kino a i ʻole ka hoʻoikaika hana ke kōkua i ka mālama ʻana i ka ikaika o nā ʻiʻo no ka lōʻihi e hiki ai.

I ka ʻoi aku o ka ʻino o nā hōʻailona, ​​​​​​e lilo lākou i mea paʻakikī ke kāohi. Akā, e hana ka hui lapaʻau e mālama ana i kāu keiki i nā mea āpau e hiki ai iā lākou ke hoʻoluʻolu i kāu keiki.

He aha ka nānā ʻana no ka maʻi Lafora?

ʻO kaʻoiaʻiʻo, ʻaʻole maikaʻi loa ka nānā ʻana no ka maʻi Lafora. ʻO ia hoʻi, hiki i ke keiki ke make koke mai kēia maʻi. E like me ka mea i ʻōlelo ʻia ma mua, ʻaʻohe lāʻau lapaʻau no kēia.

Ke ʻike ʻia kāu keiki me ka maʻi Lafora, he manaʻo maikaʻi e ʻike i kahi kākāʻōlelo genetic . Hiki iā ia ke haʻi hou aku iā ʻoe e pili ana i ke kūlana, pehea e pili ai i kāu keiki, a hāʻawi iā ʻoe i nā ʻōlelo aʻoaʻo no ka mālama ʻana i kāu keiki a me kahi e loaʻa ai ke kākoʻo kūpono no kou ʻohana.

He kōkua nui hoʻi nā ʻohana he nui i ke aʻo ʻana no ke olakino noʻonoʻo . No ka mea, hiki i ka maʻi Lafora ke lilo koke i mea koʻikoʻi. He mea paʻakikī loa i nā mākua ke hoʻomanawanui i ka ʻike ʻana i kāu keiki e ʻeha ana i nā hōʻailona, ​​a me ka ʻike ʻana i nā mea i hana maikaʻi ma mua e nalowale mālie ana. Hiki i kēia ke loaʻa ka hopena nui i kou olakino noʻonoʻo. No laila, he mea nui loa ka mālama ʻana iā ʻoe iho a me kou ʻohana i kēia manawa paʻakikī.

He aha ke kūlana o ke ola o kekahi kanaka me ka maʻi Lafora?

ʻO ka awelika o ke ola no ke keiki me ka maʻi Lafora ma kahi o 10 mau makahiki ma hope o ka hoʻomaka ʻana o nā hōʻailona. Ola ka nui o nā keiki a hiki i ka wā ʻōpio.

Hiki ke pale ʻia ka maʻi Lafora?

ʻAʻohe ala i ʻike ʻia e pale aku ai i ka maʻi Lafora. Eia nō naʻe, inā ʻoe e hoʻolālā ana e hoʻomaka i kahi ʻohana, hiki iā ʻoe ke kamaʻilio me kāu kauka e pili ana i ka hoʻāʻo ʻana i ka genetic e ʻike ai i kou pilikia o ka loaʻa ʻana o kahi keiki me ka maʻi hoʻoilina.

Āhea wau e lawe ai i kaʻu keiki i ke kauka?

No kāu keikiInā loaʻa iā ʻoe kahi maʻi ʻōʻō no ka manawa mua i kou ola, e kāhea koke i nā lawelawe ulia pōpilikia. He mea nui loa ia.

Eia kekahi, e haʻi i ke kauka inā loaʻa i kāu keiki kekahi o kēia mau mea:

• Inā he mau loli i ke ʻano a i ʻole ka naʻau .
• Inā loaʻa iā ʻoe nā pilikia me ke kaulike a i ʻole ka hoʻonohonoho ʻana i ka wā e hele ana .
• Inā paʻakikī ke kamaʻilio ʻana .
• Inā hopohopo mau ʻoe a paʻakikī iā ʻoe ke hoʻomaopopo i nā haʻawina kula .

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

Hiki iā ʻoe ke nīnau i nā nīnau e like me kēia:

• 'E ke kauka, pehea lā wau e kōkua ai i kaʻu keiki?'
• 'He aha ke ʻano o ka lāʻau lapaʻau āu e ʻōlelo nei?'
• 'He aha nā hōʻailona ʻē aʻe e pono iaʻu e makaʻala?'
• 'Pehea lā ke ola o kaʻu keiki?'
• 'Aia kekahi mau hoʻokolohua lapaʻau hou no kēia maʻi?'

ʻO ka ʻike ʻana i kāu keiki e loaʻa ana i kā lākou hopu mua ʻana, a laila i kēlā me kēia manawa ma hope o kēlā, hiki ke lilo i mea weliweli. Manaʻo paha ʻoe he kōkua ʻole, a i ʻole e kali wale ana ʻoe i ka uaki e kani a hiki i ka loaʻa ʻana o nā hōʻailona o Lafora i kāu keiki. He kūlana kaumaha loa ʻo Lafora. Akā, ʻaʻole pono ʻoe e hele wale ma kēia huakaʻi. Aia ka hui lapaʻau e mālama ana i kāu keiki e kōkua iā ʻoe. E ho'āʻo lākou e hāʻawi i kāu keiki i nā mea a pau a lākou e pono ai a hoʻomaha iā lākou.

Eia kekahi, hiki i ka hui lapaʻau o kāu keiki ke kōkua iā ʻoe a me ke koena o kou ʻohana i kēia manawa paʻakikī. Hiki paha iā ʻoe ke ʻike he mea kōkua ke kamaʻilio me kahi kākāʻōlelo olakino noʻonoʻo a i ʻole e hui pū me kahi hui kākoʻo me nā poʻe ʻē aʻe i loaʻa i nā ʻike like. E hoʻomanaʻo, ʻo nā lāʻau lapaʻau hou a hoʻomaikaʻi pinepine ʻia ke ola ʻana o kekahi mau keiki ma mua o kā lākou i manaʻolana ai. No laila, mai haʻalele i ka manaʻolana.

Leka Hoʻihoʻi Hope Loa

He maʻi paʻakikī loa a kakaikahi ka maʻi Lafora. He mea maʻamau ka manaʻo kaumaha a kaumaha ke lohe ʻoe i kahi mea e like me kēia. Eia naʻe, ʻo ka mea nui loa, ʻo ia ka ʻike ʻaʻole ʻoe hoʻokahi. Aia kekahi poʻe e hiki ke hāʻawi i ka mālama olakino maikaʻi loa no kāu keiki a kōkua iā ʻoe a me kou ʻohana e hala i kēia manawa paʻakikī. E noho mau i ka ʻike e pili ana i nā noiʻi hou a me nā lāʻau lapaʻau hou. E loaʻa mau ka manaʻolana. Eia kekahi, mai poina e mālama i kou olakino noʻonoʻo i kēia huakaʻi. ʻO ka ikaika o ʻoe, ʻoi aku ka maikaʻi o kāu keiki.

ʻO ka maʻi Lafora, Migraine, Kino, Huʻihuʻi, Nā maʻi Genetic, Nā maʻi o nā keiki, Nā maʻi Neurological, EPM2A, EPM2B, Nā kino Lafora, Nā kino Lafora