Loaʻa i kāu keiki liʻiliʻi kēia maʻi epilepsy koʻikoʻi? E aʻo kākou e pili ana i ka Dravet Syndrome!

Pehea kou makaʻu inā loaʻa koke i kāu keiki liʻiliʻi, a i ʻole kahi pēpē ma lalo o hoʻokahi makahiki, kahi ʻōhū nui me ke kuni a mau ma mua o ʻelima mau minuke? ʻO ia paha ka hōʻailona mua o kahi maʻi laha ʻole a koʻikoʻi paha i kapa ʻia ʻo Dravet Syndrome. Ma kēia kūlana, hiki i nā keiki liʻiliʻi ke loaʻa nā ʻano ʻōhū like ʻole. ʻAʻole wale ia, hiki iā lākou ke loaʻa nā hōʻailona ʻē aʻe he nui, e like me ka paʻakikī o ka ʻōlelo ʻana, nā pilikia hele wāwae, a me ka lohi o ke aʻo ʻana. Mai hopohopo, e kamaʻilio kākou e pili ana i kēia me nā kikoʻī.

He aha nā hōʻailona o ka Dravet Syndrome?

ʻO ka hōʻailona mua o kahi keiki me ka Dravet Syndrome he hopu ʻana . ʻO ka maʻamau kēia ma mua o ka piha ʻana o hoʻokahi makahiki o ka pēpē. Penei paha ke ʻano o kēia hopu mua ʻana:

• He ʻoi aku paha ma mua o ʻelima mau minuke .
• Hoʻoulu pinepine ia me ke kuni, kekahi maʻi ʻē aʻe, a i ʻole ke kiʻekiʻe o ka mahana o ke kaiapuni.
• Hiki mai paha nā ʻūmiʻi ʻiʻo i kāohi ʻole ʻia (kapa mākou iā lākou he mau haʻalulu).
• Hiki iā ia ke hoʻopili i hoʻokahi ʻaoʻao wale nō o ke kino a i ʻole nā ​​ʻaoʻao ʻelua.

Ma hope o ka piha ʻana o kahi pēpē i hoʻokahi makahiki, hiki ke loaʻa nā ʻano hopu ʻē aʻe. Hiki nō hoʻi ke loaʻa kēia mau mea me ka ʻole o ke kuni. ʻO ke ʻano kēia, hiki ke loaʻa nā hopu me ka ʻole o ka piʻi ʻana o ka mahana. ʻO kēia mau ʻano hopu like ʻole:

• Nā kuʻi ʻana o ka naʻau: Ka nalowale koke ʻana o ka ʻike, me he mea lā e kū mālie ana ʻoe. Akā, no ka manawa pōkole loa kēia.
• ʻO ke kuʻi ʻana o Atonic: Ka nalowale koke ʻana o ke kaohi ʻana i nā ʻiʻo, e hoʻolilo ana i ke kino i mea palupalu.
• Nā kuʻi Hemiclonic: Ke ʻūlū nei nā ʻiʻo ma kekahi ʻaoʻao o ke kino.
• Nā hopu kiko: Aia paha kahi nalowale pōkole o ka ʻike, nalowale o ka kaohi ʻana i nā ʻiʻo, a me nā manaʻo ʻē.
• Nā kuʻi myoclonic: Nā ʻūlū liʻiliʻi koke e like me ka ʻūlū ʻana i nā ʻiʻo.
• Nā hopu ʻana o ka tonic-clonic: ʻO kēia ke ʻano hopu maʻamau a mākou e ʻike ai. Lūlū ke kino me ke kāohi ʻole ʻia.

Ma waho aʻe o kēia mau hōʻailona hopu, hiki i nā keiki me Dravet Syndrome ke ʻike i nā hōʻailona ʻē aʻe. ʻO kēia mau mea:

• Nā lohi o ka hoʻomohala ʻana: Hiki ke ʻike ʻia nā lohi o ka hoʻomohala ʻana i ka ʻōlelo, ʻoiai hoʻi i ka hoʻomohala ʻana i ka ʻōlelo.
• Nā pilikia pili i ka hana: Hiki ke hana i kekahi manawa me ka huhū.
• Nā maʻi neurodevelopmental: No ka laʻana, nā kūlana e like me ka 'ADHD' (Attention Deficit Hyperactivity Disorder).
• Nā pilikia kaulike a me ka hoʻonohonoho ʻana: Hiki ke paʻakikī ke mālama i ke kaulike kūpono i ka wā e hele ana.
• Nā pilikia o ka neʻe ʻana: E ʻike paha ʻoe i nā haʻalulu a i ʻole ke ʻano hele wāwae paʻa ʻole.
• Ka nāwaliwali o nā ʻiʻo (hypotonia): Ua emi ke kani o nā ʻiʻo.
• Nā pilikia hiamoe: Nā mea e like me ka hiki ʻole ke hiamoe, ke ala pinepine ʻana.
• Nā pilikia ulu a me ka meaʻai: Nā mea e like me ka piʻi ʻana o ke kaumaha, ka nalowale o ka makemake.
• Dysautonomia: ʻO ke ʻano kēia o ka paʻakikī i ka kaohi ʻana i nā mea e like me ka mahana o ke kino, ka puʻuwai o ka naʻau, a me ke koko.

He aha ke kumu o ka Dravet Syndrome?

ʻO ke kumu nui o ka Dravet Syndrome he ʻano genetic pinepine ia i loko o kahi gene i kapa ʻia ʻo `SCN1A` . Ke haʻi aku nei kēia gene `SCN1A` i kā mākou mau cell e hana i nā kahawai sodium e lawe ana i nā ion sodium (nā ʻātoma sodium i hoʻopiʻi maikaʻi ʻia). Kōkua kēia mau kahawai i kā mākou mau cell lolo e hana a hoʻouna i nā hōʻailona uila.

I ka ʻōlelo maʻalahi, e noʻonoʻo i kēia gene `SCN1A` ma ke ʻano he `mea kuke` no ka hana ʻana i nā kahawai sodium e hana ana e like me `nā puka` i ko kākou mau hunaola lolo. Inā he hewa liʻiliʻi i loko o kēia `meaʻai`, ʻo ia hoʻi, he hoʻololi ʻana o ka genetic, ʻaʻole i hana pono ʻia kēlā mau `puka`. A laila ua hoʻopilikia ʻia ka hoʻoili ʻana o nā leka ma waena o nā hunaola lolo, ʻo ia hoʻi, `neurotransmission`. ʻO ia ke kumu e ʻike ʻia ai nā hōʻailona e like me nā hopu ʻana.

He mea hoʻoilina anei kēia?

ʻAe, he maʻi hoʻoilina ka Dravet Syndrome. Akā i ka hapa nui o ka manawa, he maʻi sporadic ia. ʻO ia hoʻi, hiki koke mai ia, me ka ʻole o ka mōʻaukala ʻohana mua o ke ʻano. Eia nō naʻe, aia kekahi mau hihia kahi i hoʻopilikia ai ke ʻano i kekahi mau lālā o ka ʻohana ma luna o kekahi mau hanauna.

I nā hihia kakaikahi o ka maʻi Dravet hoʻoilina, hiki ke loaʻa ka mutation i loko o kekahi mau cell o hoʻokahi makua (ua kapa ʻia kēia ʻo 'mosaicism'). A i ʻole, hiki ke hoʻoili ʻia mai kēlā hanauna a i kēia hanauna ma ke ʻano 'autosomal dominant'. ʻO ia hoʻi, hiki i kahi keiki ke hoʻoilina i ke kūlana ʻoiai inā hoʻokahi makua wale nō ka mutation.

Akā, hoʻokahi mea e hoʻomanaʻo ai, ʻaʻole nā ​​kānaka a pau me ka mutation gene `SCN1A` e loaʻa nā hōʻailona o ka Dravet Syndrome. Loaʻa paha i kekahi poʻe kēia mutation akā ʻaʻohe o lākou hōʻailona iki. Eia kekahi, loaʻa paha i kekahi poʻe nā hōʻailona o ka Dravet Syndrome akā ʻaʻohe o lākou mutation gene `SCN1A`.

Aia kekahi mau kumu pilikia kūikawā no kēia?

Inā loaʻa kekahi o kou mau mākua a i ʻole kekahi lālā ʻohana i ka maʻi epilepsy a i ʻole kahi mutation i loko o ka gene `SCN1A`, aia paha ʻoe i ka pilikia o ka loaʻa ʻana o kēia maʻi.

He aha nā pilikia e hiki ke loaʻa mai ka Dravet Syndrome?

ʻO nā pilikia koʻikoʻi loa e hiki mai ana mai kēia kūlana hiki ke hoʻoweliweli i ke ola . ʻO nā mea nui:

• Nā ʻeha i hana ʻia e nā hopu ʻana.
• Status epilepticus: He kūlana kēia kahi e loaʻa ai nā hopu mau. Pono kēia i ka mālama koke ʻia e ke kauka.
• ʻO ka make koke ʻana i wehewehe ʻole ʻia i ka maʻi Epilepsy (SUDEP).

E wehewehe ke kauka e mālama ana i kāu keiki iā ʻoe i kēia mau hōʻailona pōpilikia a e hana pū i kahi hoʻolālā no ka mea e hana ai i ka wā pilikia.

Pehea e ʻike pono ai ʻoe i ka Dravet Syndrome?

E hana mua ke kauka o kāu keiki i kahi hoʻokolokolo kino e nānā i nā hōʻailona o ka Dravet Syndrome. E nīnau pū lākou e pili ana i ka mōʻaukala olakino o kāu keiki a me nā lāʻau lapaʻau a lākou e lawe nei.

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

• Ua maʻamau anei ka ulu ʻana o ke keiki (a kokoke paha i ka maʻamau) ma mua o ka loaʻa mua ʻana o ka maʻi ʻōʻili?
• Ua loaʻa anei iā ʻoe ʻelua a ʻoi aku paha mau maʻi hoʻihoʻi, me ke kuni a i ʻole me ka ʻole o ke kuni, ma mua o ka piha ʻana o hoʻokahi makahiki?
• ʻElua a ʻoi aku paha kēlā mau hopu ʻana, ʻoi aku ma mua o ʻelima mau minuke?
• Hiki iā ʻoe ke wehewehe i ka mea i hana ʻia i ka wā i loaʻa ai ka hopu ʻana (e laʻa, ua kuʻi anei ke keiki, ua nānā anei ʻoe, ua neʻe wale anei lākou i hoʻokahi ʻaoʻao o ko lākou kino)?

Eia kekahi, hiki i ke kauka ke hana i kahi hoʻāʻo koko a i ʻole ka hoʻāʻo lawai e nānā i ka hoʻololi ʻana o ka gene SCN1A. Hiki iā lākou ke hana i nā hoʻokolohua e nānā i ka lolo, e like me MRI (Magnetic Resonance Imaging) a me EEG (Electroencephalogram). Eia nō naʻe, i kekahi manawa hiki ke hoʻopaneʻe ʻia kēia ʻike, no ka mea, he maʻamau paha nā hopena o nā hoʻokolohua MRI a me EEG i nā pae mua.

Pehea e mālama ʻia ai ka Dravet Syndrome?

ʻO ka pahuhopu nui o ka mālama ʻana, ʻo ia ka hoʻēmi ʻana i ka nui o nā hopu ʻana i loaʻa i kāu keiki a me ke koʻikoʻi o nā hopu ʻana . Eia nō naʻe, no ka mea, ʻokoʻa ke ʻano hopu ʻana o kēlā me kēia keiki a me ka lōʻihi, ʻaʻole like ka pane ʻana o kēlā me kēia keiki i ka mālama ʻana. No laila, ua hoʻopilikino ʻia ka hoʻolālā mālama no kēlā me kēia kanaka. Hiki i kēia ke komo pū me:

• Nā lāʻau lapaʻau antiseizure: Hiki i kēia mau lāʻau ke hōʻemi i ka nui o nā hopu ʻana i loaʻa i kāu keiki. Eia nō naʻe, hiki i kekahi mau lāʻau lapaʻau ke hoʻonui i ka nui o nā hopu ʻana, no laila e mālama pono ke kauka i kēia me ka nānā pinepine ʻana.
• ʻAi Ketogenic: Hiki i ke kauka ke ʻōlelo aku i kahi hoʻololi i ka ʻai a kāu keiki. Pili kēia i kahi ʻai i kiʻekiʻe i ka momona a haʻahaʻa i nā carbohydrates.
• Nā Lapaʻau: Inā he mau lohi o ka ulu ʻana, hiki i nā papahana hana hoʻonaʻauao ke kōkua. Hiki i ka lāʻau lapaʻau kino, hana, a i ʻole ka ʻōlelo ke kōkua i ka hoʻoponopono ʻana i nā pilikia.

He aha nā lāʻau lapaʻau i hāʻawi ʻia no ka Dravet Syndrome?

Ua ʻāpono ka US Food and Drug Administration (FDA) i kēia mau lāʻau lapaʻau e mālama i nā hopu ʻana e pili ana me ka Dravet Syndrome i nā poʻe ma luna o 2 mau makahiki:

• Cannabidiol
• ʻO Fenfluramine
• ʻO Stiripentol

Loaʻa kēia lāʻau lapaʻau ma nā ʻano like ʻole, e like me nā pila a me nā wai, no laila he maʻalahi ia no nā keiki ʻōpio a me nā pākeke ke lawe.

He mea nui: E haʻi aku paha kāu kauka iā ʻoe ʻaʻole e hoʻohana i kekahi mau lāʻau anti-seizure, e like me nā mea pale sodium channel e like me carbamazepine, oxcarbazepine, lamotrigine, a me phenytoin, no ka mea hiki iā lākou ke hoʻonui i ka ʻino o nā seizure.

Hiki i kāu kauka ke ʻōlelo aku i nā lāʻau lapaʻau he nui e kāohi i kēlā me kēia ʻano hopu. Paipai ka International Consensus on Diagnosis and Management of Dravet Syndrome e hoʻāʻo i kēia mau lāʻau lapaʻau ma kēia ʻano:

• Lāʻau lapaʻau laina mua: Valproate
• Lāʻau lapaʻau lua: Fenfluramine, stiripentol, a i ʻole clobazam
• Lapaʻau laina ʻekolu: Cannabidiol
• Lapaʻau laina ʻehā: Topiramate, ʻai ketogenic

Nā lāʻau hoʻopakele

He mau lāʻau lapaʻau kēia i hāʻawi ʻia i nā wā pilikia, e like me ka hopu mau ʻana (`status epilepticus`). E hana ke kauka o kāu keiki i kahi `hoʻolālā hana hopu` no ka mea e hana ai inā loaʻa kahi hopu ma ka home a ma ke kula paha. Hiki i kēia mau lāʻau lapaʻau pilikia ke hoʻōki i ka hopu ʻana o kāu keiki. ʻO kēia mau mea maʻamau i loko o ka papa o nā lāʻau lapaʻau i kapa ʻia ʻo `benzodiazepines`. Nā laʻana:

• ʻO Clonazepam (ʻO Clonazepam)
• Diazepam (ʻO Diazepam)
• ʻO Lorazepam (ʻO Lorazepam)
• Midazolam

Loaʻa kēia lāʻau lapaʻau ma ke ʻano he ʻōpala nasal, he gel rectal, a i ʻole he papa e hoʻoheheʻe ʻia i loko o ka waha.

He aha ka wānana no kahi keiki me ka Dravet Syndrome?

ʻO kāu kauka wale nō ke hāʻawi iā ʻoe i nā kikoʻī kikoʻī e pili ana i ke ʻano o kāu keiki, ʻoiai he ʻokoʻa ia mai kēlā kanaka a kēia kanaka. Hiki i kāu keiki ke loaʻa i nā hopu pinepine a lōʻihi. Eia nō naʻe, i ka wā e ulu ai kāu keiki, hiki ke emi ka helu a me ka lōʻihi o kēia mau hopu. ʻOiai hiki i nā lāʻau lapaʻau ke hōʻemi i ka helu a me ke koʻikoʻi o nā hopu, ʻaʻole hiki iā lākou ke hoʻopau loa i nā hopu i kahi kanaka me Dravet Syndrome.

Hiki iā ʻoe ke manaʻo e lōʻihi ka manawa e hiki ai i kāu keiki ke hoʻokō i nā pae hoʻomohala ma mua o nā keiki ʻē aʻe o ko lākou mau makahiki. Pono paha lākou i ke kōkua hou aku ma ke kula. Eia nō naʻe, hiki iā lākou ke aʻo ma kahi wikiwiki i ko lākou ulu ʻana.

Hiki i ke kime lapaʻau o kāu keiki ke kuhikuhi iā ʻoe i nā ʻano loea like ʻole e mālama i nā pilikia e kū mai ana i ka wā e ulu ana kāu keiki. No ka laʻana, hiki i kahi podiatrist ke kōkua me nā pilikia hele wāwae ma ke kau ʻana i nā kāmaʻa kūikawā (orthotics). A i ʻole, hiki i kahi kauka orthopedic ke kōkua me nā pilikia hele wāwae a i ʻole nā ​​​​kūlana e like me ka scoliosis.

Aia kekahi lāʻau lapaʻau piha no kēia?

ʻAʻohe lāʻau lapaʻau no ka Dravet Syndrome i kēia manawa. Eia kekahi, ʻoiai he maʻi genetic ia, ʻaʻohe ala e pale aku ai. Eia nō naʻe, ke hoʻomau nei ka noiʻi. Ua hōʻike nā hoʻokolohua lapaʻau o nā lāʻau lapaʻau gene i nā hopena mua e hoʻohiki ana.

He aha ka manaʻolana e ola ai kahi keiki me ka Dravet Syndrome?

Loaʻa i ka poʻe me ka Dravet Syndrome ka pilikia o ka make koke ʻana mai ka SUDEP (make koke ʻole ma muli o ka maʻi epilepsy), status epilepticus (kahi hopu mau), a i ʻole nā ​​​​​​ulia e kū mai ana i ka wā o ka hopu ʻana. Eia nō naʻe, ʻo ka hapa nui o ka poʻe me kēia maʻi e ola a hiki i ka wā makua.

Ma muli paha o ke kūlana o kāu keiki e kūlike a ʻaʻole paha e like me nā helu helu, hiki i ke kauka o kāu keiki ke hāʻawi iā ʻoe i ka ʻike pololei loa e pili ana i ka mea e manaʻo ai.

Āhea ʻoe e ʻike ai i ke kauka?

Inā loaʻa i kāu keiki ʻelua a ʻoi aku paha nā hopu ʻana e mau ana ma mua o ʻelima mau minuke, ʻoiai inā ua hoʻokumu ʻia e ke kuni, ma mua o ko lākou makahiki hoʻokahi, e haʻi i kāu kauka. He hōʻailona paha kēia o ka Dravet Syndrome.

Ma hope o kou ʻike ʻia ʻana me ka Dravet Syndrome, pono ʻoe e ʻike pinepine i ka hui lapaʻau o kāu keiki. Inā ʻike ʻoe e ʻoi aku ka ʻino o nā hopu ʻana o kāu keiki (ʻoi aku ka pinepine, ʻoi aku ka lōʻihi) ma hope o ka hoʻomaka ʻana o ka lāʻau lapaʻau, e haʻi i kāu kauka.

E aʻo aku kāu kauka iā ʻoe i nā hōʻailona a me nā ʻōuli e makaʻala ai i ka wā pilikia, a me ka mea e hana ai i ia hihia. ʻO nā hōʻailona e pono ai ka mālama ʻana i ka wā pilikia :

• ʻO kahi maʻi ʻōʻili e mau ana ma mua o ʻelima mau minuke a ke kumu o ka pilikia o ka hanu ʻana.
• Nui nā hopu ʻana i ka lālani, akā ʻaʻole i loaʻa i ke keiki ka ʻike i ka wā o lākou.
• Hoʻopilikia kino ka hopu ʻana.

Maopopo iaʻu ke ʻano weliweli o ka nānā ʻana i kāu keiki e loaʻa ana i ka maʻi ʻōʻili. ʻOiai he mea ʻeha, ʻaʻole maʻalahi ka ʻike e hana hou ʻia kekahi mea e like me ia i kekahi lā. ʻO kēia ke ʻano maoli o ka noho ʻana me ka Dravet Syndrome.

Eia nō naʻe, e hana pū ka hui lapaʻau o kāu keiki me ʻoe e hoʻomaopopo i ka mea e manaʻo ai i ka wā o ka hopu ʻana. E aʻo pū lākou iā ʻoe pehea e hana ai i kahi 'hoʻolālā hana hopu'. ʻO ka ʻike ʻana i ka mea e hoʻokaʻaʻike aku ai a me nā kumuwaiwai e hoʻohana ai i ka wā pilikia hiki ke hāʻawi iā ʻoe i ka maluhia o ka noʻonoʻo.

Hiki i ka lāʻau lapaʻau ke hōʻemi i ke alapine a me ke koʻikoʻi o nā hopu ʻana. No ka mea e pono ai kāu keiki i ka mālama olakino no ke ola holoʻokoʻa, e ʻike maikaʻi ʻo ia i kāna mau kauka. Inā he mau nīnau kāu ma ke ala, mai kānalua e nīnau i ka hui lapaʻau o kāu keiki.

ʻO ka mea hope loa, e hoʻomanaʻo (Leka Lawe-Home)

He maʻi epilepsy kakaʻikahi a paʻakikī hoʻi ka Dravet Syndrome e hoʻopilikia ana i nā keiki ʻōpio. He mea maopopo ke manaʻo nui i ka makaʻu a me ka hopohopo ke lohe ʻoe e pili ana i ia mea.

ʻO ka mea nui loa, ʻo ia ka ʻike koke ʻana i nā hōʻailona a me ka ʻimi ʻana i ke kōkua lapaʻau kūpono a me ka mālama ʻana.

• Inā loaʻa i kāu keiki liʻiliʻi nā ʻōhū no ka manawa lōʻihi me ke kuni, mai hoʻokaʻulua e kamaʻilio me ke kauka e pili ana i ia mea.
• He paʻakikī ke ola me kēia maʻi, akā, ʻaʻole ʻoe hoʻokahi. Hiki iā ʻoe ke loaʻa ke kākoʻo nui mai nā kauka, nā mea hoʻōla, a me nā mākua ʻē aʻe i loaʻa nā ʻike like.
• Ke hoʻomau nei ka holomua o nā lāʻau lapaʻau a me nā noiʻi, no laila mai hoʻopau i ka manaʻolana.

E loaʻa iā ʻoe ka ikaika e hāʻawi i ka mālama maikaʻi loa no kāu keiki!

ʻO ka Dravet Syndrome, ka maʻi epilepsy, nā hopu ʻana, nā hoʻololi genetic, pediatrics, nā maʻi neurological, SCN1A