Ke ʻike nei ʻoe i kahi loli i ka helehelena a i ʻole nā ​​pepeiao o kāu pēpē? He Goldenhar Syndrome paha ia?

Ke nānā aku kākou i kahi pēpē hānau hou, hauʻoli nui kākou a aloha ʻia, ʻeā? Akā e noʻonoʻo, i kekahi manawa, ʻoiai he kakaikahi loa, hiki mai kekahi mau pēpē i kēia ao me nā ʻokoʻa liʻiliʻi e kū mai ana mai ka hānau ʻana. Pēlā, ma ke alo, nā pepeiao, nā maka, a i ʻole ka iwi kuamoʻo, kahi kūlana a kākou e kamaʻilio nei i kēia lā ua kapa ʻia ʻo Goldenhar Syndrome. Mai makaʻu i kou lohe ʻana i kēia inoa, e kamaʻilio mākou e pili ana i nā mea āpau ma ke ʻano maʻalahi hiki iā ʻoe ke hoʻomaopopo.

He aha ka Goldenhar Syndrome?

I ka ʻōlelo maʻalahi, he maʻi laha ʻole ʻo Goldenhar Syndrome. ʻO ke ʻano o "Congenital" ke loaʻa nei ke ʻano i ka wā hānau. Ua hoʻokaʻawale ʻia ʻo ia he maʻi craniofacial. ʻO ke ʻano kēia e hoʻoulu ai i nā ʻano ʻē i ke ʻano a i ʻole ka ulu ʻana o ka maka a i ʻole ke poʻo o kāu pēpē. Ma ke ʻano kūikawā, hiki i ka Goldenhar Syndrome ke hoʻopilikia i ka iwi kuamoʻo, nā pepeiao, a me nā maka o kāu pēpē.

I ka manawa pinepine, ʻaʻole i ulu pono nā iwi a me nā ʻiʻo o ka poʻe me Goldenhar Syndrome ma kekahi ʻaoʻao o ka maka (i kapa ʻia hoʻi he hemifacial microsomia). I kekahi manawa hiki ke hoʻopilikia ʻia nā ʻaoʻao ʻelua. Loaʻa i kekahi mau keiki kahi lehelehe māwae a i ʻole ka palate māwae.

Ua kapa ʻia ʻo Goldenhar no ka hoʻohanohano ʻana i ka mea noiʻi nāna i ʻike mua i ke ʻano i ka makahiki 1952, ʻo Maurice Goldenhar. ʻO kekahi inoa lapaʻau no ia mea ʻo "oculo-auriculo-vertebral dysplasia." He lōʻihi iki ke kani ʻana o ka inoa, ʻeā? E wehewehe kākou, ʻeā?

• ʻO Oculo ke ʻano e pili ana i nā maka.
• ʻO Auriculo ke ʻano e pili ana i ka pepeiao.
• ʻO ka Vertebral e pili ana i ka iwi kuamoʻo.
• ʻO Dysplasia ka ulu ʻana o kahi ʻāpana o ke kino i nā ʻano maʻamau ʻole.

I kēia manawa ua maopopo iā ʻoe ke ʻano o kēia inoa, ʻeā?

Pehea ka maʻamau o kēia kūlana?

He maʻi laha ʻole ka Goldenhar Syndrome. Wahi a nā loea, hoʻopilikia ia i hoʻokahi i loko o 3,500 a 25,000 mau pēpē hānau hou. Ua ʻōlelo ʻia hoʻi he ʻoi aku ka maʻamau o ia i nā keikikāne ma mua o nā kaikamahine.

He aha nā kumu o Goldenhar Syndrome?

ʻO ka nīnau a nā poʻe he nui, "No ke aha e hana ai kēia?" ʻO kaʻoiaʻiʻo, ʻaʻole i loaʻa i nā loea ka hoʻoponopono .ʻAʻole ʻike ʻia ke kumu kikoʻī o Goldenhar Syndrome. Ua manaʻo ʻia ua hoʻokumu ʻia e kahi loli i loko o kahi chromosome, akā ʻaʻole maopopo mau ke kumu. Ma kahi pakeneka liʻiliʻi loa, ma kahi o 1% - 2% o nā hihia, hiki ke hoʻoilina ʻia ke kūlana mai kekahi a i ʻole nā ​​mākua ʻelua.

Ua hōʻike ʻia kekahi mau noiʻi e hoʻonui iki ʻia ka pilikia o ka pēpē e loaʻa ana iā Goldenhar Syndrome inā loaʻa i ka makuahine kekahi mau maʻi a hoʻohana paha i kekahi mau lāʻau lapaʻau i ka wā hāpai. Eia kekahi laʻana:

• Maʻi diabetes hāpai.
• ʻO kekahi mau lāʻau lapaʻau i hoʻohana ʻia no ka ʻākena, ʻoiai nā mea i loaʻa ka waikawa retinoic, e like me isotretinoin (Accutane®).

No laila, inā hāpai ʻoe, he mea nui loa ia e hahai pololei i nā ʻōlelo a kāu kauka.

He aha nā hōʻailona o kēia?

Hiki ke ʻokoʻa nā hōʻailona o ka Goldenhar Syndrome mai kēlā kanaka a kēia kanaka. Eia nō naʻe, ʻo kekahi o nā hōʻailona maʻamau, ʻo ia ka ulu pono ʻole o kekahi ʻaoʻao o ka maka . Ua kapa ʻia hoʻi kēia he 'hemifacial microsomia', e like me kā mākou i ʻōlelo ai ma mua. Hiki i kēia ke hana i ka ʻauwae, nā papālina, a me nā maka ma kekahi ʻaoʻao o ka maka e liʻiliʻi a emi iho ka ulu ʻana ma mua o kēlā ʻaoʻao. No ka laʻana, ʻoi aku ka palahalaha o kekahi papālina ma mua o kekahi, a ʻoi aku ka liʻiliʻi o ka ʻauwae ma kekahi ʻaoʻao.

ʻO nā hiʻohiʻona ʻē aʻe i ʻike ʻia:

• Nā ʻano pepeiao ʻē: Loaʻa paha i kekahi poʻe kekahi pepeiao liʻiliʻi loa (i kapa ʻia ʻo 'microtia'). Hiki i kekahi poʻe ke nalowale loa kekahi pepeiao (i kapa ʻia ʻo 'anotia'). Hiki i kēia ke kumu o ka nalowale ʻana o ka lohe.
• Hoʻopilikia i nā ʻaoʻao ʻelua o ka maka: Ma kahi o hoʻokahi hapakolu o nā keiki me Goldenhar Syndrome e ʻike i kēia ulu ʻana me ke ʻano palupalu ma nā ʻaoʻao ʻelua o ka maka.
• Nā pilikia me nā ʻōpū ʻē aʻe: Hiki ke loaʻa nā pilikia me nā puʻupaʻa, ka puʻuwai, nā māmā, a i ʻole nā ​​​​iwi o ka iwi kuamoʻo (vertebrae).
• Ke kīnā noʻonoʻo: Ma kahi o 15% o ka poʻe e loaʻa paha kekahi pae o ke kīnā noʻonoʻo. ʻO ia hoʻi nā pilikia aʻo, ka emi ʻana o ka hiki ke hoʻomaopopo, a pēlā aku.

Ma waho aʻe o kēia, hiki ke ʻike ʻia nā hōʻailona ʻē aʻe:

• Loaʻa i ka lehelehe māwae a i ʻole ka lehelehe māwae.
• Nā kīnā puʻuwai hānau.
• I kekahi manawa, e kū mai paha nā puʻupuʻu liʻiliʻi (dermoid cysts) ma ka maka.
• Ka nalowale o ka lohe.
• Ka hōʻiliʻili ʻana o ka wai i loko o ke poʻo (Hydrocephalus).
• ʻO ka apnea hiamoe obstructive.
• Ka nalowale ʻana o ka lihilihi a i ʻole nā ​​​​ʻiʻo ʻē aʻe i loko o ka maka (coloboma) a me ka nalowale ʻana o ka ʻike.
• ʻO ke skoliosis.
• Nā pilikia ʻōlelo.
• Nā maka keʻa (ʻO ke ʻano o ka strabismus).

E hoʻomanaʻo, ʻaʻole e ʻike nā kānaka a pau i kēia mau hōʻailona a pau. Loaʻa paha i kekahi poʻe kekahi mau hōʻailona wale nō, a ʻokoʻa paha ko lākou ikaika.

Pehea ʻoe e ʻike ai inā loaʻa iā ʻoe ʻo Goldenhar Syndrome?

I ka manawa pinepine, hiki i nā kauka ke ʻike i ka Goldenhar Syndrome ma hope o ka hānau ʻana o ke pēpē ma muli o nā hōʻailona o waho, e like me nā loli i ka maka a me nā pepeiao.

Eia nō naʻe, no ka hōʻoia hou aku a no ka ʻike ʻana inā he mau pilikia kūloko ʻē aʻe, hiki i ke kauka ke hana i kekahi mau hoʻokolohua hou aʻe. ʻO kekahi o kēia mau mea:

• Nā scan CT: Hiki i kēia ke ʻike i nā loli i nā ʻano i loko o ka pepeiao e hiki ai ke lilo i ka lohe.
• Echocardiogram (hoʻāʻo echo) a i ʻole electrocardiogram (EKG): Hiki i kēia mau hoʻāʻo ke nānā i ke ʻano o ka hana ʻana o ka puʻuwai. E like me kā mākou i kūkākūkā ai ma mua, hiki ke loaʻa ka maʻi puʻuwai i kekahi manawa.
• Nā hoʻokolohua maka: Hana ʻia kēia mau hoʻokolohua e nānā i nā ʻano ʻē i loko o ka maka.
• Ultrasound a me X-ray: Hiki i kēia ke nānā i nā loli i ke poʻo, ka iwi kuamoʻo, nā māmā, a i ʻole nā ​​​​puʻupaʻa.
• Ka hoʻāʻo ʻana i ka genetic: Kōkua kēia mau hoʻāʻo i ka hoʻoponopono ʻana i nā kūlana genetic ʻē aʻe e hiki ai ke hana i nā hōʻailona like.
• Nā haʻawina hiamoe: Hana ʻia kēia e nānā no ka obstructive sleep apnea.

Hiki ke ʻike ʻia kēia ma mua o ka hānau ʻana o ke pēpē?

He mea kākaʻikahi loa kēia. Eia nō naʻe, i kekahi manawa, i ka wā o nā scan ultrasound prenatal, ʻike paha nā kauka i nā loli i ka ʻāwae, nā pepeiao, a i ʻole ka waha o ka pēpē. Inā hana ʻia kēia, e nānā nui aku paha lākou iā ia.

He aha nā lāʻau lapaʻau no kēia?

ʻOkoʻa ka lāʻau no ka Goldenhar Syndrome ma muli o nā hōʻailona . ʻAʻole like ka mālama ʻia ʻana o nā kānaka a pau. ʻAʻole pono paha kekahi mau keiki i kekahi lāʻau kūikawā inā he ʻoluʻolu loa ko lākou mau hōʻailona. Eia nō naʻe, ua hoʻolālā ʻia ka lāʻau me ke kōkua o nā loea like ʻole, e like me ka mea e pono ai.

Eia kekahi mau koho lapaʻau:

• Kōkua hānai: Hiki i kekahi mau pēpē ke paʻakikī i ka omo ʻana. I ia mau hihia, pono paha nā ʻōmole kūikawā a i ʻole ka hānai nasogastric (NG).
• Ka hoʻomaikaʻi ʻana i ka ʻike: Hiki iā ʻoe ke hoʻohana i nā aniani a i ʻole e hana i ke ʻoki kino e hoʻomaikaʻi ai i kou ʻike.
• Nā mea kōkua hoʻolohe: Hiki ke hoʻomaikaʻi ʻia ka lohe ma o ka hoʻohana ʻana i nā mea kōkua hoʻolohe a i ʻole nā ​​​​​​mea hoʻokomo pepeiao i hoʻopaʻa ʻia i ka iwi.
• Hoʻōla ʻōlelo:He mea nui loa kēia no ka hoʻomohala ʻana i nā mākau ʻōlelo a me ke kamaʻilio ʻana.
• ʻOki: Hiki ke hana ʻia ke ʻoki e hoʻoponopono i ka maʻi puʻuwai, ka lehelehe māwae a i ʻole ka palate, ka apnea hiamoe, nā pepeiao liʻiliʻi (microtia), a i ʻole nā ​​​​​​deformities spinal.

Hana ʻia kēia mau mea a pau e hoʻomaikaʻi i ke kūlana o ke ola o ke keiki i ka hiki. No laila, he mea nui loa ka hahai ʻana i nā ʻōlelo aʻo a ke kauka i hāʻawi mai ai.

Hiki ke hoʻoponopono ʻia nā loli o ka helehelena?

ʻAe, he pilikia kēia no nā mākua he nui. Hiki ke hana ʻia ke ʻoki kino hoʻonani e hoʻonui i ke ʻano o nā hiʻohiʻona o ka maka. He nui nā pēpē me Goldenhar Syndrome i hana ʻia ke ʻoki kino e hoʻololi i ke ʻano o ko lākou ʻauwae, nā iwi papālina, nā pepeiao, a i ʻole ka lae. Hana pinepine ʻia kēia i ka wā e ʻoi iki aʻe ai ke keiki, i ka makahiki kūpono.

Hiki ke pale ʻia ka Goldenhar Syndrome?

E like me kā mākou i kūkākūkā ai ma mua, ʻaʻohe ala maopopo e pale aku ai i kēia maʻi no ka mea ʻaʻole ʻike ʻia ke kumu pololei . Eia nō naʻe, he mea nui e hahai i nā ʻōlelo aʻoaʻo a pau a kāu kauka i ka wā hāpai. ʻOi aku hoʻi, mai hoʻohana i nā lāʻau lapaʻau i loaʻa ka retinoic acid (e like me kekahi mau lāʻau ʻeha) me ka ʻole o ka ʻōlelo aʻoaʻo a kāu kauka. He mea nui hoʻi e ʻai i kahi meaʻai olakino.

Inā ua loaʻa i kekahi o kou ʻohana ka Goldenhar Syndrome, he manaʻo maikaʻi ia e kiʻi i ka ʻōlelo aʻoaʻo genetic. A laila, inā ʻoe e hoʻolālā ana e loaʻa kahi keiki, hiki iā ʻoe ke hoʻomaopopo i ka pilikia o ka loaʻa ʻana o kēlā keiki i kēia maʻi.

Pehea lā ke ʻano o ke ola me kēia maʻi?

He mea hopohopo iki paha kēia iā ʻoe. Eia nō naʻe, ʻoiai ke ʻano like ʻole o ka wā e hiki mai ana o ka poʻe e noho nei me Goldenhar Syndrome, he hopena maikaʻi ka hapa nui o ka poʻe . Me ka mālama kūpono, hiki i nā keiki me kēia maʻi ke ola i kahi ola maʻamau. Hiki iā lākou ke aʻo, pāʻani, a komo i loko o ke kaiāulu.

He aha nā mea āu e makemake ai e nīnau aku i ke kauka?

Ke ʻike ʻoe ua loaʻa i kāu keiki kēia maʻi, nui paha kāu mau nīnau. I kēlā manawa, mai makaʻu e nīnau i kāu kauka i kēia mau mea:

• "E ke kauka/wahine, he aha nā hōʻailona nui o ka Goldenhar Syndrome?"
• "He aha nā hoʻokolohua e pono ai iaʻu e hana e hōʻoia i loaʻa i kaʻu pēpē kēia?"
• "He aha nā koho lapaʻau no kēia? He aha ka mea maikaʻi loa no kaʻu pēpē?"
• "He aha kekahi mau wahi hilinaʻi e aʻo hou ai e pili ana i kēia kūlana?"
• "Aia kekahi mau hui a i ʻole nā ​​hui makua e kōkua ana i nā keiki a me nā ʻohana me kēia ʻano kūlana?"

ʻO ka nīnau ʻana i kēia mau nīnau e kōkua iā ʻoe e hoʻomaopopo maikaʻi i ke kūlana a hāʻawi i ka mea maikaʻi loa no kāu keiki.

He kīnā anei ka Goldenhar Syndrome?

ʻAe, i kekahi manawa kēiaHiki ke manaʻo ʻia he kīnā he kīnā. No ka laʻana, inā he hemahema o ka lohe a i ʻole ka ʻike, hiki ke lilo i kīnā. Pēlā nō, inā he kīnā noʻonoʻo, pono paha kēlā kanaka i ke kākoʻo hou aku e hana i nā hana o kēlā me kēia lā a aʻo. No laila, ʻo ko kākou kuleana ma ke ʻano he kaiāulu ke hāʻawi iā lākou i nā pono a me ke kākoʻo e pono ai.

He aha nā kūlana ʻē aʻe i loaʻa nā hōʻailona like?

Aia kekahi mau maʻi ʻē aʻe i loaʻa nā hōʻailona like me Goldenhar Syndrome. No laila, he mea nui loa ka loaʻa ʻana o kahi hōʻailona pololei. ʻO kekahi o kēia mau maʻi:

• ʻO ka maʻi Branchio-oto-renal `(Branchioootorenal (BOR) syndrome)`
• ʻAhahui CHARGE
• ʻO ka maʻi Townes-Brocks
• ʻO ka maʻi Treacher Collins
• ʻAhahui VACTERL

ʻOiai paha he mea paʻakikī iki kēia, noʻonoʻo nā kauka i kēia mau mea a pau i ka wā e hana ai i nā hōʻailona.

ʻO ka mea e pono ai kākou e hoʻomanaʻo mai nā mea a kākou i kamaʻilio ai!

He maʻi laha ʻole ka Goldenhar Syndrome i loaʻa i ka wā hānau. Hoʻopilikia nui ia i ke ʻano o ka maka o ka pēpē, ke poʻo, a i kekahi manawa nā ʻōpū o loko. Hiki i nā kauka ke hoʻoponopono i kekahi mau kīnā o ka maka a i ʻole ka iwi kuamoʻo i ka wā kamaliʻi me ke ʻoki ʻana.

ʻO ka mea nui, ʻaʻole pono kekahi mau keiki i ka mālama kūikawā inā he akahai ko lākou mau hōʻailona. A, i ka hapanui o nā hihia, ola hauʻoli a hoʻokō ka poʻe me Goldenhar Syndrome me ka mālama a me ke kākoʻo e pono ai.

Inā manaʻo ʻoe ua loaʻa i kāu keiki kekahi o kēia mau hōʻailona, ​​mai hopohopo, akā e ʻike koke i ke kauka no ka ʻōlelo aʻo. ʻO ka ʻike mua ʻana a me ka mālama kūpono e hiki ai i kāu keiki ke hāʻawi i kahi wā e hiki mai ana maikaʻi aʻe.

ʻO ka maʻi Goldenhar, ke kūlana hānau, kīnā hānau, craniofacial, hemifacial microsomia, oculo-auriculo-vertebral dysplasia, olakino keiki