Loaʻa i kāu keiki liʻiliʻi nā loli o ka helehelena e like me kēia? E kamaʻilio kākou e pili ana i ka Treacher Collins Syndrome!

ʻIke ʻoe, i kekahi manawa hele mai kā mākou poʻe liʻiliʻi i kēia ao me nā loli liʻiliʻi i ko lākou mau helehelena, pepeiao, a me nā maka i ka wā e hānau ʻia ai lākou. He mea maʻamau iā mākou ma ke ʻano he mau mākua ke makaʻu nui a hopohopo i ka wā e ʻike ai mākou i kēia. I kēia lā e kamaʻilio mākou e pili ana i kahi ʻano kakaikahi, akā he mea nui loa e makaʻala. Ua kapa ʻia ʻo Treacher Collins Syndrome . He mea ʻē paha kēia inoa ke lohe ʻoe, akā e hoʻomaopopo maʻalahi kākou.

He aha ka maʻi Treacher Collins?

I ka ʻōlelo maʻalahi, he maʻi genetic kakaʻikahi loa ʻo Treacher Collins syndrome. Hoʻololi ia i ka nui, ke ʻano, a me ke kūlana o nā pepeiao, nā maka, nā iwi papālina, a me ka ʻauwae o kāu pēpē. Hiki i kēia mau loli ke paʻakikī i kāu pēpē ke hānai waiū, hanu maʻalahi, a lohe maopopo paha. Ua kapa ʻia hoʻi ʻo mandibulofacial dysostosis . He mea huikau iki kēlā inoa, ʻeā? No laila e hoʻohana wale kākou i ka Treacher Collins syndrome.

Hiki i nā hōʻailona o kāu keiki o kēia ʻano ke ʻano mai ka liʻiliʻi loa, ʻike ʻole ʻia, a hiki i ka koʻikoʻi loa . Nui nā keiki me ka maʻi Treacher Collins i hana ʻia i ke ʻoki ʻana e hoʻoponopono i nā ʻano ʻē o ka helehelena, e like me ka palate cleft. Pono paha kekahi mau keiki i ka mālama ʻia no ka nalowale o ka lohe.

Akā, mai hopohopo . Me ka mālama kūpono a me ka nānā lapaʻau maʻamau, hiki i kēia mau keiki ke ola piha a olakino . ʻO ka mea nui loa, ʻo ia ka ʻike mua ʻana i kēia a hoʻomaka i ka mālama ʻana (ka hana mua) . A i ʻole, hiki i ke keiki ke loaʻa nā pilikia e pono ai ka mālama olakino no ke ola holoʻokoʻa.

Hoʻopilikia kēia maʻi i hoʻokahi i loko o 50,000 mau keiki ma ka honua holoʻokoʻa, ʻo ia hoʻi he mea kakaikahi loa ia.

He aha nā hōʻailona o ka Treacher Collins Syndrome?

He nui nā hiʻohiʻona helehelena ʻokoʻa o nā keiki me ka maʻi Treacher Collins. ʻO kēia mau mea:

• Me he mea lā ua hio i lalo nā lihilihi: Hoʻolilo ia i nā maka i mea kaumaha iki.
• He liʻiliʻi a pālahalaha nā iwi papālina: ʻAʻole i ʻike nui ʻia nā papālina.
• ʻĀwae lalo liʻiliʻi: Kāhea pū nā kauka i kēia he "micrognathia".
• Ke emi nei nā pepeiao a i ʻole ke loli nei ke ʻano: I kekahi manawa hiki ke loli ke wahi o nā pepeiao.
• He puʻupuʻu liʻiliʻi e like me ka ʻoki ma ka lihilihi: Ua kapa ʻia kēia he eyelid coloboma .

Loaʻa paha i ke keiki kekahi a ʻoi aku paha o kēia mau ʻano. ʻAʻole like kēia mau ʻano a pau i loko o kēlā me kēia keiki.

No ke aha e kū mai ai ka Treacher Collins Syndrome?

Wahi a nā kānaka noiʻi, ʻo ke kumu nui o kēiaʻOkoʻa genetic. Hiki mai kēia kūlana ma muli o kekahi mau loli i nā mea liʻiliʻi i kapa ʻia he genes i loko o ko mākou kino.

• I kekahi manawa, ʻo ia hoʻi, ma kahi o ka hapalua o nā keiki , inā loaʻa kēia maʻi i kekahi o ka ʻohana (makuahine, makuakāne, a ʻohana pili paha), hiki i ke keiki ke loaʻa pū kekahi.
• Akā i kekahi manawa hiki ke hana pinepine ʻia, me ka ʻole o ka mōʻaukala ʻohana . ʻO ia hoʻi, hiki ke hana koke ʻia.

He aha nā pilikia e hiki ke hana ma muli o kēia ʻano?

Hiki i nā keiki me ka maʻi Treacher Collins ke loaʻa nā pilikia e like me:

• Ka nalowale o ka lohe: Hiki ke hana ʻia kēia ma muli o ka haiki ʻana a i ʻole ka nalowale ʻana o nā kahawai pepeiao. Aia paha he mau pilikia me nā iwi liʻiliʻi ma ka pepeiao waena.
• Nā pilikia hanu: ʻO ka ulu ʻole ʻana o nā iwi maka, ʻoiai ka ʻauwae a me ka ihu, hiki ke pilikia i ka hanu ʻana. Hiki ke koʻikoʻi kēia i kekahi mau keiki ʻōpio.
• Lepe māwae: Hiki i kēia ke paʻakikī i ka hānai ʻana i ka waiū i ka wā pēpē, no ka mea, hiki i ka waiū ke komo i loko o ka ihu i ka wā e omo ana. I ka wā e ulu ai ke pēpē, hiki ke paʻakikī ke ʻōlelo a haʻi maopopo i nā huaʻōlelo. E noʻonoʻo i ke kaumaha o ka makuahine i ka wā e paʻakikī ai i kahi pēpē liʻiliʻi ke omo a inu i ka waiū.

Pehea e ʻike ai nā kauka i kēia?

Hiki i nā kauka ke kānalua i kēia i ka wā o nā hoʻokolohua maʻamau o nā keiki hānau hou ma ka haukapila. Inā ʻike lākou i nā hiʻohiʻona o ka helehelena o kāu pēpē a kānalua iā Treacher Collins syndrome, e kuhikuhi lākou iā ʻoe i kahi loea genetics . Hiki iā lākou ke hana i nā hoʻāʻo hou aʻe e hōʻoia i ke kūlana pololei.

He aha nā lāʻau lapaʻau no ka Treacher Collins Syndrome?

ʻOkoʻa ke ʻano o ka mālama ʻana i kēia mai kēlā keiki a kēia keiki . No ka mea, ʻaʻole like ke kūlana o kēlā me kēia keiki, ʻaʻole pono nā kānaka a pau i ka lāʻau like.

ʻO ka pahuhopu nui o ka mālama ʻana mai ka wā ʻōpiopio, ʻo ia ka hoʻomaikaʻi ʻana i ke olakino o ke keiki a me ka hoʻomaʻalahi ʻana i nā hana o kēlā me kēia lā, e like me ka ʻai ʻana, ka inu ʻana, ka hanu ʻana, a me ka lohe ʻana .

• Pono paha ke ʻoki mua ʻana e maʻalahi ai ka hanu ʻana. I kekahi mau hihia koʻikoʻi, pono paha i nā keiki ke loaʻa kahi tracheostomy , kahi ʻōmole i kau ʻia ma ko lākou ʻāʻī e kōkua iā lākou e hanu.
• Eia kekahi, nui nā keiki e pono ai i hoʻokahi a ʻoi aku paha nā ʻoki hana hou e hoʻihoʻi i ke ʻano a me ka hana o ka helehelena.
• Ke nui iki aʻe ke keiki, ma kahi o ʻumikumamāwalu a iwakālua paha ona makahiki, hiki iā lākou ke noʻonoʻo i ke ʻoki kino inā makemake lākou.

He aha ka mea e hana ʻia me ke ʻoki kino reconstructive?

Ua hoʻolālā ʻia kēia mau ʻoki kino e hoʻoponopono i nā ʻano ʻē o ke kino o ke keiki, e hōʻemi i nā hōʻailona, ​​a hoʻomaikaʻi i ke olakino o ke keiki. Ma muli o ke kūlana o ke keiki, pono paha nā ʻoki kino aʻe:

• ʻĀwae: Ke hoʻonohonoho pono ʻia nā ʻāwae a kau pono ʻia nā niho, hiki ke hoʻēmi ʻia nā pilikia ʻai a me ka hanu ʻana. Pono paha kēia i kahi hoʻolālā lapaʻau e mau no nā makahiki.
• Waha: Pono kekahi mau keiki i ke ʻoki ʻana e hoʻoponopono i ka palale māwae . Pono paha kekahi e unuhi i ko lākou mau niho inā he mau niho paʻa ko lākou, a i ʻole pono paha lākou i nā pale (orthodontics) e hoʻopololei i ko lākou mau niho.
• Ihu: Inā he nui nā ʻiʻo i loko o nā lua ihu, kahi e hoʻopilikia nei i ka hanu ʻana, hiki i ke ʻoki ʻana ke wehe i ke ala a maʻalahi ka hanu ʻana.
• Nā Pepeiao: Ma muli o nā hōʻailona o ke keiki, hiki ke hoʻokomo ʻia nā ʻōmole pepeiao (e ʻae kēia i ka ea e komo i ka pepeiao waena a hoʻomaikaʻi i ka lohe), hiki ke hoʻohana ʻia nā mea kōkua lohe , a i ʻole e hana ʻia ke ʻoki kino e hana hou i nā pepeiao o waho. Hiki i nā mea kōkua lohe ke lilo i mea kōkua nui, ʻoiai no nā keiki kula.
• Nā Maka: Pono kekahi mau keiki i ke ʻoki kino e hoʻoponopono i ka waimaka ma ka lihilihi o lalo (eyelid coloboma) . Hāʻawi kēia i ka pale no ka maka a hoʻomaikaʻi i ke ʻano.
• Nā iwi papālina: Inā liʻiliʻi nā iwi papālina a paʻakikī ke ʻai a hanu paha, hiki ke kōkua ke ʻoki kino e hoʻoponopono hou i ka wahi. Hiki paha i kēia ke pili i ka hoʻohana ʻana i nā hoʻopili iwi.

Hiki ke pale ʻia kēia kūlana?

Hoʻokumu ʻia kēia e nā loli genetic, no laila, ʻaʻohe ala e pale aku ai . Eia nō naʻe, inā loaʻa i kekahi o kou ʻohana ka Treacher Collins Syndrome, a inā loaʻa iā ʻoe kēia maʻi, he manaʻo maikaʻi e loaʻa ka ʻōlelo aʻoaʻo genetic ma mua o ka loaʻa ʻana o kahi keiki. A laila, inā ʻoe e hoʻolālā ana e loaʻa kahi keiki, hiki iā ʻoe ke loiloi i ka pilikia o kēia no kēlā keiki. E kōkua pū kēia ʻōlelo aʻoaʻo iā ʻoe e hoʻomākaukau noʻonoʻo no ia mea.

Hiki ke ho'ōla loa ʻia ka Treacher Collins Syndrome?

ʻAʻole hiki ke ho'ōla loa ʻia kēia maʻi. No ka mea, he maʻi hoʻoilina ia. Eia nō naʻe, ʻaʻohe pono e hopohopo , no ka mea, ʻo nā pilikia e kū mai ana ma muli o kēia, e like me nā loli o ka helehelena, nā pilikia hanu, a me ka hōʻino ʻana o ka lohe , hiki ke hoʻoponopono nui ʻia ma o ke ʻoki kino a me nā lāʻau lapaʻau ʻē aʻe .

ʻEhia ke ola o kēia mau keiki?

ʻO kēia ka pilikia nui loa i loaʻa i nā mākua he nui. ʻO ka nūhou maikaʻi, inā loaʻa i kā lākou keiki ka lāʻau kūpono i ka manawa kūpono, hiki iā lākou ke ola i kahi ola maʻamau a maikaʻi e like me nā poʻe ʻē aʻe.Hiki i ka lāʻau lapaʻau a me nā hahai mau ʻana ke kāohi i nā hōʻailona a hoʻomaikaʻi i ke ʻano o ke ola. Eia nō naʻe, e like me ka mea i ʻōlelo ʻia ma mua, inā ʻaʻole mālama ʻia, hiki i nā keiki ke loaʻa nā pilikia e pono ai ka mālama olakino no ke ola holoʻokoʻa.

Pehea lā wau e mālama ai i kaʻu keiki?

He mea maʻamau ke kaumaha, ka makaʻu, a me ka hopohopo ke ʻike ʻoe ua loaʻa i kāu keiki ka Treacher Collins Syndrome. E hopohopo paha ʻoe no ke ʻano o ka lāʻau e pono ai i ka wā e hiki mai ana a pehea e kū ai kāu keiki.

Akā, e hoʻomanaʻo ʻaʻole ʻoe hoʻokahi. Aia kāu kauka, nā kahu maʻi, a me nā limahana lapaʻau ʻē aʻe e kōkua a alakaʻi iā ʻoe. E nānā mau lākou iā ʻoe a me kāu pēpē, a e hoʻomaopopo iā ʻoe e pili ana i ka hoʻolālā lapaʻau a me ka mea e hana ai ma hope.

ʻO ka mea nui e hoʻomanaʻo ai, ʻaʻole pili ka Treacher Collins Syndrome i ke aʻo ʻana o ke keiki, ka hana, ka ulu ʻana o ka lolo, a i ʻole ka naʻauao. ʻO ka hoʻoikaika ʻana i kāu keiki e pāʻani, e hoʻāʻo i nā hana hou, e ʻimi i ko lākou wahi noho, a me ka launa pū ʻana me nā keiki ʻē aʻe e kōkua iā lākou e ulu maikaʻi a lilo i mea launa pū. Mai hoʻohaʻahaʻa i ko lākou mau hiki.

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

He mea maʻamau ka loaʻa ʻana o nā nīnau he nui e pili ana i ke olakino a me ke ʻano o kāu pēpē. Ke kipa aku ʻoe i ke kauka, hiki iā ʻoe ke nīnau i nā nīnau e like me kēia:

• "Pehea lā e pili ai kēia maʻi i kaʻu keiki?"
• "He aha nā pilikia olakino koʻikoʻi e hiki ai i kēia?"
• "Pono anei kaʻu keiki i ke ʻoki kino? Inā pēlā, he aha ke ʻano o ke ʻoki kino a i ka manawa hea e hana ʻia ai?"
• "E hoʻopilikia anei kēia kūlana i ka ulu maʻamau o kaʻu keiki?"
• "ʻO wai nā loea ʻē aʻe e hiki ke kōkua iā mākou?" (e.g., loea pepeiao, ihu, a me ka ʻāʻī, kauka niho, kauka ʻōlelo)

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

ʻAe, i kekahi manawa hiki nō. Nānā nā kauka i ka ulu ʻana o ke keiki me nā ultrasound maʻamau i ka wā hāpai. Hiki ke ʻike ʻia nā hiʻohiʻona o ke alo o kāu pēpē ma ka ultrasound i ka wā mua o ka trimester ʻelua , ma kahi o 4-6 mau mahina o kou hāpai ʻana. Hiki ke ʻike ʻia nā hihia koʻikoʻi o ka Treacher Collins Syndrome i kekahi manawa ma kēia mau scan. Akā, ʻaʻole paha e ʻike mau ʻia ma ka scan, ʻoiai inā he mau hōʻailona liʻiliʻi.

Hiki i nā kānaka me ka Treacher Collins Syndrome ke hānau keiki?

ʻAe, hiki nō ia. ʻAʻohe pilikia no kekahi me ka Treacher Collins Syndrome e mare a loaʻa nā keiki ma ke ʻano maʻamau. Eia nō naʻe, inā loaʻa iā ʻoe kēia maʻi, aia kahi manawa kūpono he 50% (kanalima-kanalima) e hoʻoili pū kāu keiki iā ia ma o nā genes.ʻAe. ʻAʻole ia manaʻo e hiki mai ana i kēlā me kēia keiki, akā aia kahi hiki ke hiki mai. No laila, e like me ka mea i ʻōlelo ʻia ma mua, he mea nui e loaʻa ka ʻōlelo aʻoaʻo genetic.

E hoʻopilikia anei kēia i ka lolo o kaʻu keiki?

ʻAʻole. ʻAʻohe hōʻike ʻepekema e pili ana ka Treacher Collins Syndrome i ka ulu ʻana o ka lolo o ke keiki a i ʻole ka hiki ke noʻonoʻo . Hiki i kēia mau keiki ke aʻo a hōʻike i nā talena e like me nā keiki ʻē aʻe.

Eia nō naʻe, e like me ka mea i ʻōlelo ʻia ma mua, hiki i kekahi mau keiki ke loaʻa nā pilikia lohe. Hiki i kēia pilikia lohe ke hoʻoulu i kekahi mau lohi o ka ulu ʻana , e like me ka lohi o ka ʻōlelo ʻana, ʻoiai ke hoʻomaka lākou e kamaʻilio. Eia nō naʻe, hiki ke hoʻomaikaʻi nui ʻia kēia mau mea me nā lāʻau lapaʻau e like me nā mea kōkua lohe a me ka hoʻōla ʻōlelo .

ʻO ka mea hope loa, nā mea e hoʻomanaʻo ai ...

I ko mākou mau maka, he mea makamae a hemolele kā mākou mau keiki a pau. Makemake mākou a pau e ʻike ke ao nei iā lākou ma ia ʻano. He pilikia ka Treacher Collins Syndrome no ke keiki e kū ai, akā, ʻaʻole ia e hoʻēmi i ko lākou waiwai a me ko lākou hiki.

ʻOiai ʻaʻohe lāʻau lapaʻau no ka Treacher Collins Syndrome, hiki i nā kauka ke kōkua me nā mea he nui. Aia nā ʻoki kino (e like me ke kūkulu hou ʻana o ke craniofacial) a me nā lāʻau lapaʻau ʻē aʻe e kōkua ai i nā pilikia hanu, ka nalowale o ka lohe, a me kekahi mau loli o ka helehelena.

ʻO ka mea nui, ʻaʻole ʻoe hoʻokahi i kēia huakaʻi . Aia nā kauka lokomaikaʻi, nā kahu maʻi, a me nā limahana mālama ola ʻē aʻe i loaʻa ka ʻike i ka mālama ʻana i nā keiki e like me kēia. E kōkua a alakaʻi lākou iā ʻoe a me kāu keiki i kēlā me kēia ʻanuʻu o ke ala. Me ka mālama pono ʻana a me ka mālama aloha, hiki i kēia mau keiki ke ola i nā ola ʻeleu, hauʻoli, a me ke ʻano nui.

ʻO ka Treacher Collins Syndrome, nā ʻano ʻē o ka helehelena, nā maʻi genetic, ka pilikia o ka lohe ʻana, nā pilikia hanu, ke ʻoki hana hou ʻana