Ke pilikia nei kāu pēpē i ka ulu ʻana o ka lolo? E aʻo e pili ana i ka Holoprosencephaly (HPE)

ʻAʻole hiki i nā huaʻōlelo ke hōʻike i ka hauʻoli a me ke aloha a mākou e manaʻo ai ke nānā aku mākou i kahi pēpē hānau hou, ʻeā? Akā i kekahi manawa, hiki i kā mākou mau pēpē ke komo mai i kēia ao me nā pilikia olakino a mākou i manaʻo ʻole ai. I kēia lā, e kamaʻilio mākou e pili ana i kahi kīnā hānau i paʻakikī iki, akā he mea pono mākou e makaʻala.

He aha ka Holoprosencephaly (HPE)?

I ka ʻōlelo maʻalahi, ʻo Holoprosencephaly, i ʻike ʻia hoʻi ʻo HPE, he maʻi hānau ʻia e kū mai ana i ka wā e noho ana ke pēpē i loko o ka ʻōpū. He kīnā hānau kēia. Ma kēia kūlana, ʻaʻole i hoʻokaʻawale pono ʻia ka lolo o kahi fetus i nā hemispheres ʻākau a me hema i kona ulu ʻana. Ua ʻike anei ʻoe ua māhele ʻia ko mākou lolo i ʻelua ʻāpana nui, ʻo ka hemisphere ʻākau a me ka hemisphere hema. Hoʻopili ʻia kēia mau hemispheres ʻelua kekahi i kekahi a hoʻololi i ka ʻike ma o kahi puʻupuʻu o nā olonā nerve i kapa ʻia ʻo corpus callosum. Eia kekahi, ua māhele ʻia kēlā me kēia hemispheres i nā ʻāpana ʻē aʻe, e like me ka frontal lobe, ka parietal lobe, ka occipital lobe, a me ka temporal lobe.

He mea nui loa kēia mahele ʻana o ka lolo i nā ʻāpana. No ka mea, kōkua kēia mahele i ka lolo e hana i ka nui o ka ʻike i ka manawa like a hana i nā hana like ʻole. No laila, e like me ke ʻano o `(HPE)`, inā ʻaʻole e hana ʻia kēia mahele ʻana i ka wā e ulu pono ana ka lolo, hiki iā ia ke hana i kekahi mau pilikia e pili ana i ke kino a me ka ʻōnaehana nerve.

ʻO kēia kūlana, i kapa ʻia ʻo 'HPE', hiki mai i ka wā mua loa o ka ulu ʻana o ka fetal. ʻO ke ʻano kēia, hiki paha ma mua o kou ʻike ʻana ua hāpai ʻoe. Aia nā ʻano holoprosencephaly like ʻole, a ʻokoʻa ko lākou koʻikoʻi a me nā hōʻailona. Hiki ke ʻokoʻa ke ʻano o ka hopena o ke kūlana i kēlā me kēia keiki.

He aha nā ʻano nui o ka holoprosencephaly (HPE)?

ʻEkolu mau ʻano nui o ka holoprosencephaly (HPE). E nānā kākou iā lākou ma ke kaʻina mai ka nui loa a hiki i ka liʻiliʻi loa:

ʻO ka holoprosencephaly Alobar

ʻO kēia ke ʻano koʻikoʻi loa . ʻO ka mea e hana ʻia ma ʻaneʻi, ʻaʻole i hoʻokaʻawale iki ka lolo o ka pēpē i ʻelua hemispheres. ʻO ka hopena, ua nalowale nā ​​​​​​hale i loaʻa ma waena o ka lolo a me ka maka, a ua hui pū nā lua o ka lolo. Me kēia, ʻike ʻia nā kīnā koʻikoʻi o ka maka. ʻO ka hapa pinepine, ʻo nā pēpē me kēia ʻano `(HPE)` i hānau make a make paha ma hope koke o ka hānau ʻana.

Holoprosencephaly Semilobar

Ma kēia ʻano, ua māhele hapa wale ʻia ka lolo o ka pēpē i ʻelua hemispheres . Hana ʻia kēia no ka mea ua pili ka ʻaoʻao hema o ka lolo i ka ʻaoʻao ʻākau ma nā wahi i kapa ʻia ʻo "frontal lobes" a me "parietal lobes". Eia kekahi, ʻo ka laina hoʻokaʻawale ma waena o nā hemispheres ʻākau a me hema o ka lolo, ʻo ia hoʻi ka "interhemispheric fissure," aia ma ke kua o ka lolo.

ʻO ka holoprosencephaly Lobar

I kēia ʻano, ua māhele ʻia ka lolo o ka fetal i ʻelua hemispheres., akā ʻaʻole i hoʻokaʻawale loa ʻia. ʻOiai he ʻelua mau hemispheres (ʻākau a me hema), ua pili pū nā hemispheres cerebral i loko o ka ``frontal cortex``. ʻO kēia ke ʻano ʻoi loa o ka ``(HPE)``.

ʻOkoʻa waena o ka hemispheric (MIH)

Ma waho aʻe o kēia mau ʻano nui ʻekolu, aia kekahi ʻano ʻehā i kapa ʻia ʻo ka Middle Interhemispheric (MIH) variant. ʻO kēia kahi e hoʻopili ʻia ai ka lolo o ka fetal ma waenakonu.

He aha ka ʻokoʻa ma waena o ka hydranencephaly a me ka holoprosencephaly?

E huikau paha ʻoe i kēia mau inoa ʻelua. ʻO Hydranencephaly a me holoprosencephaly nā kīnā hānau ʻelua e hoʻopilikia i ka lolo o ka pēpē, akā aia kahi ʻokoʻa ma waena o nā mea ʻelua.

ʻO ka Hydranencephaly ka nalowale ʻana o kahi ʻāpana o ka lolo o kāu pēpē. He ʻano laha ʻole kēia i kapa ʻia ʻo hydrocephalus (poʻo wai). ʻO ka maʻamau, he poʻo nui ko nā pēpē me kēia ʻano.

Eia nō naʻe, ʻo Holoprosencephaly ka wā i hoʻokaʻawale pono ʻole ʻia ai ka lolo i nā hemispheres ʻākau a me hema i ka wā embryonic. Maopopo iā ʻoe kēlā ʻokoʻa?

ʻO wai ka mea e hoʻopilikia ai kēia maʻi? ​​Pehea ka maʻamau?

ʻO ka Holoprosencephaly (HPE) kahi maʻi e hoʻopilikia ai i nā ʻōpū e ulu ana i loko o ka ʻōpū. ʻO ka maʻamau, hana ia i ka lua a me ke kolu o nā pule o ka ulu ʻana o ka ʻōpū. ʻO ia hoʻi, pinepine ma mua o kou ʻike ʻana ua hāpai ʻoe.

Ua manaʻo nā kānaka noiʻi e hoʻopilikia ka holoprosencephaly i kahi 1 i loko o 250 mau fetuses i ka wā mua o ka embryonic (ka lua a me ke kolu o ka pule o ka hāpai ʻana). Eia nō naʻe, ʻo ka hapa nui o kēia mau hāpai ʻana e pau i ka hāʻule ʻana o ka manawa a i ʻole ka hānau make ʻana.

No laila, he ʻano kakaikahi ka holoprosencephaly i nā hānau ola, e kū ana ma kahi o 1 i loko o 16,000 mau hānau ola.

He aha nā hōʻailona o ka holoprosencephaly (HPE)?

No ka mea, he ʻokoʻa nā ʻano holoprosencephaly (HPE), hiki ke ʻokoʻa ke koʻikoʻi a me nā hōʻailona. ʻO ke ʻano kēia, hiki ke ʻokoʻa kēia mau hōʻailona mai kekahi keiki a i kekahi.

Nā hōʻailona maʻamau

ʻO nā hōʻailona maʻamau o HPE:

• Nā lohi o ka hoʻomohala ʻana.
• Ke kīnā noʻonoʻo.
• ʻEpilepsy a me nā hopu ʻana.
• He poʻo liʻiliʻi (microcephaly).
• Loaʻa ke poʻo nui (macrocephaly).
• Ka hōʻiliʻili nui ʻana o ka wai i loko o ka lolo (hydrocephalus).
• Nā ʻano ʻē o ka helehelena .
• Nā ʻano ʻino o nā niho (no ka laʻana, loaʻa kahi incisor waena hoʻokahi).
• Lehelehe māwae a me/a i ʻole lehelehe.
• Ka paʻakikī ke kāohi ʻana i ka mahana o ke kino, ka helu o ka puʻuwai, a me ka hanu ʻana.
• Paʻakikī i ka ʻai ʻana.

Nā ʻano o Alobar HPE

ʻO kēia ke ʻano koʻikoʻi loa, no laila ʻoi aku ka koʻikoʻi o nā hōʻailona:

• Loaʻa ka maka hoʻokahi (cyclopia), ka hoʻonohonoho kokoke ʻana o nā maka (ethmocephaly), a i ʻole ka ʻole o nā maka (anophthalmia).
• Loaʻa nā maka liʻiliʻi loa (microphthalmia) a me ka ihu e like me ka paipu (proboscis).
• He ihu pālahalaha me nā maka pili loa (orbital hypotelorism) a i ʻole he lehelehe māwae e kū ana ma waenakonu o ka lehelehe (median cleft lip) a i ʻole ma nā ʻaoʻao ʻelua (bilateral cleft lip).

Nā ʻano o Semilobar HPE

• Nā maka i hoʻokaʻawale kokoke ʻia (orbital hypotelorism), nā maka liʻiliʻi loa (microphthalmia), a i ʻole hoʻokahi a ʻoi aku paha mau maka (anophthalmia).
• Ka palahalaha ʻana o ke alahaka a me ka piko o ka ihu.
• He puka ihu hoʻokahi.
• Lehelehe māwae waena a i ʻole lehelehe māwae ʻelua.
• Lepe māwae.

Nā ʻano o Lobar HPE

ʻO kēia ke ʻano ʻoi aku ka liʻiliʻi o ka ʻino, akā hiki iā ʻoe ke ʻike i kēia mau hōʻailona:

• Lehelehe māwae ʻelua ʻaoʻao.
• Kiʻi kokoke o nā maka.
• Ihu pālahalaha a piholo paha.

Hiki i kēia ʻano, i kapa ʻia ʻo holoprosencephaly, ke hana pū ʻia ma ke ʻano he ʻāpana o kekahi mau syndromes genetic like ʻole. Loaʻa i kēlā me kēia o kēia mau syndromes kona mau hōʻailona a me nā ʻōuli kūikawā.

He aha ke kumu o ka holoprosencephaly (HPE)?

ʻO ka maʻamau, māhele ʻia ka lolo o ka fetal i ʻelua hemispheres i ka wā mua o ka ulu ʻana. Hana ʻia ka Holoprosencephaly (HPE) i ka wā ʻaʻole i hoʻokaʻawale pono ʻia ka ʻaoʻao mua o ka lolo, ʻo ka prosencephalon, i nā hemispheres ʻākau a me hema. ʻO ia hoʻi, ma kahi o ka ʻaoʻao hema a me ka ʻākau o ka ʻaoʻao mua o ka lolo e kaʻawale loa ana, aia kahi pilina maʻamau ʻole ma waena o nā mea ʻelua.

ʻO ke ʻano kikoʻī, hiki ke hana ʻia ka holoprosencephaly e:

• Loaʻa nā mutations ma ka liʻiliʻi he 14 mau genes like ʻole .
• Nā ʻano ʻē o ka chromosome .
• ʻO kekahi mau maʻi genetic .

Eia nō naʻe, i nā manawa he nui, ʻaʻole hiki i nā kauka ke loaʻa ke kumu kūpono.

Nā hoʻololi genetic

ʻO ka hoʻololi ʻana o ka genetic ka hoʻololi ʻana i ke kaʻina o kāu DNA. Hāʻawi kēia kaʻina o ka DNA i kāu mau cell i ka ʻike e pono ai lākou e hana i kā lākou mau hana. No laila, inā ʻaʻole piha a hōʻino ʻia paha kekahi hapa o kahi kaʻina o ka DNA, hiki iā ʻoe ke ʻike i nā hōʻailona o kahi maʻi genetic.

Hiki i kahi pēpē ke hoʻoilina i kahi mutation genetic mai kekahi a i ʻole nā ​​mākua ʻelua, ma muli o ke ʻano o ka hoʻoili ʻia ʻana o ka mutation. Eia nō naʻe, loaʻa pū kekahi mau mutations i ka manawa kūpono ʻole, ʻo ia hoʻi, ʻaʻohe mea o ka ʻohana i loaʻa ka mōʻaukala o ka mutation.

Ua hoʻopili nā kānaka ʻepekema i nā hoʻololi ʻana i loko o nā genes aʻe i ke kūlana (HPE):

• `SHH`
• ʻEono a me ʻekolu
• `TGIF1`
• ʻO ZIC2
• `PTCH1`
• ʻO FOXH1
• ʻO NODAL
• ʻO CDON
• ʻO FGF8
• ʻO GLI2

ʻO kēia mau hoʻololi ʻana ke kumu o ka hana pono ʻole ʻana o nā genes a me nā protein a lākou e hana ai. ʻO kēia ka mea e hoʻopilikia ai i ka ulu ʻana o ka lolo o ka fetal a ke kumu o ka holoprosencephaly.

Nā ʻano ʻino o ka chromosome

Loaʻa iā kākou a pau he 46 mau chromosome i loko o ko kākou mau cell, i hoʻonohonoho ʻia i 23 mau pālua. Lawe kēia mau chromosome i kā kākou DNA. I ka ʻōlelo maʻalahi, aia iā lākou nā kuhikuhi no ko kākou kino e ulu a hana. Loaʻa iā kākou hoʻokahi set o nā chromosome mai ko kākou makuahine a hoʻokahi set mai ko kākou makuakāne.

Ma kahi o hoʻokahi hapakolu o nā pēpē i hānau ʻia me ka holoprosencephaly he ʻano chromosome ʻē. ʻO ka ʻano chromosome ʻē aʻe e pili pinepine ʻia me HPE ʻo ia ke alo o ʻekolu kope o ka chromosome 13, i ʻike ʻia ʻo trisomy 13. ʻO Trisomy 18 (ʻekolu kope o ka chromosome 18) a me ka triploidy (ke alo o 69 chromosomes i loko o kahi cell ma kahi o ka 46 maʻamau) hiki ke hana i ka HPE.

Nā maʻi genetic

I kekahi manawa hiki ke holoprosencephaly ma ke ʻano he ʻāpana o kekahi mau syndromes genetic e hoʻoulu ai i nā pilikia olakino ʻē aʻe ma waho aʻe o HPE.

ʻO kekahi o nā syndromes genetic e pili ana me HPE:

• ʻO ka maʻi Hartsfield
• `(Kallman syndrome ʻelua)`
• `(Steinfeld syndrome)`
• `(ʻO ka maʻi Smith-Lemli-Opitz)`
• `(ʻO ka maʻi Stromme)`

Pehea e ʻike ʻia ai ka holoprosencephaly (HPE)?

Hiki i nā kauka ke ʻike pinepine i ka holoprosencephaly (HPE), ʻoiai nā hihia koʻikoʻi, ma mua o ka hānau ʻana o kahi pēpē, me ka hoʻohana ʻana i kahi scan ultrasound prenatal. Hiki ke ʻike ʻia ke kūlana ma mua o ka hānau ʻana me kahi scan MRI (Magnetic Resonance Imaging) fetal.

ʻOiai hiki i kēia mau hoʻokolohua kiʻi prenatal ke ʻike i ka HPE, ʻike pinepine ʻia ka HPE ma hope o ka hānau ʻana o ke pēpē , i ka wā e hoʻomaka ai nā ʻano ʻē o ka helehelena a i ʻole nā ​​​​pilikia neurological. A laila hana ʻia nā hoʻokolohua kiʻi o ke poʻo e hōʻoia i ka hōʻailona.

ʻAʻole paha e ʻike ʻia nā pēpē me nā ʻano holoprosencephaly palupalu loa a hiki i ko lākou makahiki. I kēlā mau hihia, ʻo ka lohi o ka ulu ʻana he hōʻailona paha ia he pilikia me ka ʻōnaehana nerve. A laila e kauoha nā kauka i nā hoʻokolohua kiʻi lolo.

Nā hoʻokolohua diagnostics

Hoʻohana nā kauka i nā hoʻokolohua kiʻi e hiki mai ana e ʻike i ka holoprosencephaly ma hope o ka hānau ʻana o ke pēpē:

• ʻO ke ultrasound poʻo: ʻO ka Ultrasound (i kapa ʻia hoʻi ʻo sonography) he hoʻāʻo kiʻi ʻeha ʻole, ʻaʻole invasive e hoʻohana ana i nā nalu kani alapine kiʻekiʻe e hana i nā kiʻi ola a i ʻole nā ​​​​wikiō o nā ʻiʻo e like me nā ʻōpū o loko a i ʻole nā ​​​​kīʻaha koko.
• ʻO ke kiʻi ʻana o ka lolo me ka magnetic resonance imaging (MRI):He hoʻāʻo ʻeha ʻole nō hoʻi ka MRI scan. Hiki iā ia ke hana i nā kiʻi maopopo loa o nā ʻano a me nā ʻiʻo i loko o ka lolo o kāu keiki. Hoʻohana ka MRI i kahi magnet nui, nā nalu lekiō, a me kahi kamepiula. ʻAʻole ia e hoʻohana i nā kukuna X (radiation).
• ʻO ke kiʻi ʻikepili poʻo (CT): ʻO ka CT scan kahi hoʻāʻo e hoʻohana ana i nā kukuna X a me kahi kamepiula e hana i nā kiʻi ʻekolu-dimensional (3D) o ka ʻāpana kino e nānā ʻia ana (i kēia hihia, ke poʻo a me ka lolo o kāu keiki).

Inā hiki, e hana nā kauka i nā haʻawina DNA, me ka nānā ʻana i nā chromosomal, nā hoʻokolohua cytogenetic a me nā molekala, e hoʻoholo ai i ke kumu kikoʻī o HPE.

Inā hōʻike ka hoʻāʻo genetic i kahi pilikia chromosomal a genetic paha e pili ana me ka holoprosencephaly, hiki i kāu kauka ke ʻōlelo aku iā ʻoe e ʻimi i ka ʻōlelo aʻoaʻo genetic inā ʻoe e hoʻolālā nei e loaʻa kahi keiki ʻē aʻe.

He aha nā lāʻau lapaʻau no ka holoprosencephaly (HPE)?

ʻO ka mea kaumaha, ʻaʻohe lāʻau lapaʻau a lāʻau nui paha no ke ʻano holoprosencephaly (HPE) i kēia manawa. Akā, mālama nā kauka i kēlā me kēia keiki me HPE ma muli o kā lākou mau hōʻailona kikoʻī. ʻO ke ʻano kēia, ʻokoʻa nā koho lapaʻau mai kekahi keiki a i kekahi keiki.

Pono paha kēia lāʻau lapaʻau i ka hui pū ʻana o kahi hui o nā loea like ʻole, e like me:

• Nā Kauka Lapaʻau Keiki
• Nā kauka lolo
• Nā kauka endocrinologist
• Nā kauka ʻokiʻoki
• Nā mea hoʻōla hana a me nā mea hoʻōla kino
• Hui mālama palliative
• Hui mālama paʻakikī

Hiki ke hoʻokomo ʻia nā kānaka e like me ia.

Nā lāʻau lapaʻau maʻamau

Eia kekahi o nā lāʻau lapaʻau i hoʻohana pinepine ʻia no HPE:

• Nā lāʻau lapaʻau anti-harvest e pale aku ai, hōʻemi, a kaohi paha i nā haʻalulu.
• Inā loaʻa i kāu keiki ka hydrocephalus, hiki ke mālama ʻia me kahi ventriculoperitoneal (VP) shunt.
• Hiki i nā lāʻau lapaʻau a me ka hana ʻoihana a me ke kino ke kōkua i nā maʻi neʻe e like me ka paʻakikī o nā ʻiʻo (spasticity) a me nā neʻe ʻana me ka makemake ʻole (dystonia).
• ʻO ke ʻoki hana hou ʻana no ka lehelehe māwae a me ka palate a i ʻole nā ​​​​hiʻohiʻona helehelena ʻē aʻe.
• Nā lāʻau lapaʻau e mālama ai i nā hemahema hormonal i loko o ka gland pituitary.
• Ke hana nei i nā hana e hoʻomaikaʻi ai i ka ʻai ʻana o nā keiki me nā pilikia hānai. No ka laʻana, ka hānai ʻana ma o kahi paipu i loko o ka ʻōpū (gastrostomy tube - G-tube).

Hana ʻia kēia mau mea a pau e hāʻawi i ke keiki i ke ola maikaʻi loa.

Hiki ke pale ʻia ka holoprosencephaly (HPE)?

ʻO ka mea pōʻino, loaʻa ka holoprosencephaly (HPE)ʻAʻole hiki ke pale ʻia nā hihia he nui. ʻO kēia no ka mea ua hoʻokumu pinepine ʻia lākou e nā pilikia hoʻoilina "huna". Inā ʻoe e hoʻolālā ana e loaʻa kahi keiki, he manaʻo maikaʻi e kamaʻilio me kāu kauka e pili ana i ka hoʻāʻo ʻana i ka hoʻoilina e hoʻomaopopo i ka pilikia o kāu keiki i ka loaʻa ʻana o kahi maʻi hoʻoilina a i ʻole ka hoʻololi ʻana o ka hoʻoilina, e like me HPE.

Eia nō naʻe, ua ʻike nā kānaka ʻepekema i kekahi mau mea pilikia e hoʻonui ai i ka manawa e loaʻa ai i kahi fetus ka holoprosencephaly. ʻO kēia mau mea:

• Loaʻa i ka maʻi diabetes: Inā loaʻa iā ʻoe ka maʻi diabetes type 1 a i ʻole type 2 ma mua o kou hāpai ʻana, hiki iā ʻoe ke piʻi aʻe ka pilikia o ka loaʻa ʻana o kahi pēpē me HPE. ʻAʻole pono e huikau kēia me ka maʻi diabetes gestational, ka mea e kū mai ana i ka wā hāpai.
• Ka nele o ka Folate (folic acid): ʻO ka Folate, ke ʻano kūlohelohe o ka huaora B9, he mea nui ia no ka ulu ʻana o ka fetal olakino, ʻoiai ka lolo a me ke kaula kuamoʻo. ʻO ka nele o ka Folate ma mua a i ka wā o ka hāpai ʻana e hoʻonui paha i ka pilikia o ka loaʻa ʻana o kahi pēpē me HPE.
• Ka ʻike ʻia ʻana o nā teratogens: ʻO nā teratogens he mau mea a i ʻole nā ​​kumu e hoʻopilikia ai i ka ulu ʻana o ka fetal a alakaʻi i nā kīnā hānau. ʻO ka ʻike ʻia ʻana o nā teratogens, e like me ka ethanol (ʻona), ka waikawa retinoic, a me nā mycotoxins (nā mea ʻawahia mold) mai ka meaʻai, hiki ke hoʻonui i ka pilikia o ka loaʻa ʻana o kahi pēpē me ka holoprosencephaly.

No laila, he mea nui loa ka hahai ʻana i kahi nohona olakino, ka ʻai ʻana i ka meaʻai kaulike, a me ka hahai ʻana i nā ʻōlelo aʻoaʻo lapaʻau i ka wā hāpai a ma mua o ka hāpai ʻana.

He aha ka wānana no ka holoprosencephaly (HPE)?

ʻOkoʻa ka nānā ʻana, a i ʻole ka wānana, no ka holoprosencephaly (HPE) ma muli o ke koʻikoʻi o ke kūlana a me ke kumu kikoʻī.

ʻO ka manaʻo no ka HPE waena a koʻikoʻi paha, he haʻahaʻa loa ia. He kakaikahi wale nō nā keiki me ka HPE waena a koʻikoʻi e ola a hiki i ka wā makua. ʻO nā keiki me ka HPE akahai a waena e ola pinepine a hiki i ka wā makua, akā pinepine lākou e noho me nā pilikia olakino e pili ana i ka HPE.

Pono nā keiki he nui me ka holoprosencephaly i nā lāʻau lapaʻau a me nā lāʻau lapaʻau i kēlā me kēia lā e pale aku i nā hopu ʻana a mālama i nā pilikia ʻē aʻe.

Ka lōʻihi o ke ola

ʻO ke ola o kekahi me ka holoprosencephaly (HPE) e pili ana i ke ʻano o ka HPE i loaʻa iā lākou a me ke kumu o ke ʻano.

ʻO ka maʻamau, make nā pēpē me Alobar HPE (ke ʻano koʻikoʻi loa) ma ke ʻano he hānau make, ma hope koke iho o ka hānau ʻana a i ʻole i loko o nā mahina ʻeono mua o ke ola.

ʻOi aku ma mua o 50% o nā keiki me ka semilobar a i ʻole lobar HPE, me ka ʻole o nā ʻano ʻē aʻe o ke kino, ola no ka liʻiliʻi he 12 mau mahina.

ʻO nā keiki me nā hihia ʻoluʻolu o ka HPE e ola mau a hiki i ka wā makua.

Inā loaʻa i kaʻu pēpē ka holoprosencephaly (HPE), he aha kaʻu e manaʻo ai?

He mea nui loa kēia. E hoʻomanaʻo ʻaʻole ʻelua mau keiki me ka holoprosencephaly (HPE) i hoʻopilikia ʻia ma ke ʻano like. ʻAʻohe ala e ʻike pono ai pehea e hoʻopilikia ʻia ai kāu keiki. ʻO ka mea maikaʻi loa āu e hiki ai ke hana e hoʻomākaukau no ka wā e hiki mai ana, ʻo ia ke kamaʻilio me nā loea e noiʻi a mālama i ka holoprosencephaly. Hiki iā lākou ke hāʻawi iā ʻoe i ka ʻike hou aku e pili ana i kēia.

Pehea e mālama ai i kaʻu pēpē me ka holoprosencephaly (HPE)?

No ke kōkua ʻana i ka mālama ʻana i kāu keiki me ka holoprosencephaly (HPE), e hahai i kēia mau ʻōlelo aʻoaʻo mai kā lākou mau kauka:

• E hāʻawi i nā lāʻau lapaʻau i kuhikuhi ʻia e like me ke kuhikuhi ʻana.
• E nānā no nā loiloi hoʻomohala a me nā lāʻau lapaʻau.
• E hōʻoia e hele i nā kipa lapaʻau a pau.

Hiki i ka Holoprosencephaly ke hana i nā pilikia noʻonoʻo, neurologic, a/a i ʻole motor. He nui nā keiki me HPE i loaʻa nā pilikia ulu a pono paha ke kōkua me nā hana o kēlā me kēia lā i ko lākou ola.

Hiki i ka hui lapaʻau o kāu keiki ke pane i kāu mau nīnau a hāʻawi iā ʻoe i ke kākoʻo. Hiki iā lākou ke kuhikuhi iā ʻoe i nā hui kākoʻo ma kou wahi a i ʻole ma ka pūnaewele. E hoʻomanaʻo ʻaʻole ʻoe hoʻokahi.

Āhea wau e ʻike ai i ke kauka o kaʻu keiki?

Inā ua ʻike ʻia kāu keiki me ka holoprosencephaly (HPE), pono lākou e ʻike pinepine i kā lākou hui lapaʻau e hōʻoia i ka hana ʻana o kā lākou lāʻau a e loiloi i kā lākou holomua ulu ʻana.

He mea paʻakikī ke hoʻomanawanui i ka ʻike ʻana ua loaʻa i kāu pēpē ka holoprosencephaly. Akā e ʻike ʻaʻole ʻoe hoʻokahi. Nui nā kumuwaiwai i loaʻa e kōkua iā ʻoe a me kou ʻohana. He mea nui e kamaʻilio me ke kauka i ʻike i kēia maʻi. E kōkua kēia iā ʻoe e aʻo hou e pili ana i ke ʻano o ka hopena o kāu pēpē a pehea e hoʻomākaukau ai no ia.

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

He kīnā hānau paʻakikī ka Holoprosencephaly (HPE) i hana ʻia ke hoʻokaʻawale pono ʻole ʻia ka lolo o ke pēpē i ʻelua hemispheres i loko o ka ʻōpū.

• Aia nā ʻano a me nā pae like ʻole o ke koʻikoʻi , no laila ʻokoʻa nā hōʻailona mai ke keiki a i ke keiki.
• I ka manawa pinepine, pili nā kumu genetic a me nā ʻano chromosomal , akā i kekahi manawa ʻaʻole hiki ke loaʻa ke kumu.
• ʻOiai hiki ke ʻike ʻia ma mua o ka hānau ʻana me ka ultrasound a i ʻole MRI, ʻike pinepine ʻia ma hope o ka hānau ʻana.
• ʻAʻohe lāʻau lapaʻau kūikawā , akā aia nā ʻano lāʻau like ʻole e kaohi i nā hōʻailona a kākoʻo i ke keiki.
• ʻOkoʻa ke ʻano o ka maʻi ma muli o ke koʻikoʻi o ke kūlana. I nā hihia palupalu, hiki i nā keiki ke ola a hiki i ka wā makua.
• Inā hāpai ʻoe a i ʻole e hoʻolālā ana e hāpai, e makaʻala i nā mea e like me ka kaohi ʻana i kāu maʻi diabetes a me ka lawe ʻana i ka waikawa folic.
• ʻAʻole ʻoe hoʻokahi i kēia kūlana. Hiki iā ʻoe ke loaʻa ke kōkua mai nā kauka, nā kākāʻōlelo, a me nā hui kākoʻo. He mea nui loa ka ʻike pololei a me ke kākoʻo.

Holoprosencephaly , HPE, nā maʻi lolo, nā kīnā hānau, ka ulu ʻana o ka fetal, nā maʻi genetic, nā ʻano chromosomal, ke olakino hāpai, ke olakino o ke keiki