Nā mea e pono ai ʻoe e ʻike e pili ana i ka Barber Say Syndrome: Loaʻa i kāu pēpē kēia mau hōʻailona?

He ʻoliʻoli nui ka pēpē hānau hou no ka ʻohana, ʻeā? Ke kali nei nā kānaka a pau e ʻike i ka nani o ka pēpē. Akā, i kekahi manawa, ʻoiai he kakaikahi loa, ke ʻike mākou i kekahi mau loli i ke ʻano o kā mākou keiki liʻiliʻi, hiki i kahi makuahine a makua paha ke hopohopo nui a makaʻu. E like me ia, ʻo Barber Say Syndrome kahi maʻi genetic i loaʻa i nā poʻe kakaikahi loa ma ka honua. E kamaʻilio kākou e pili ana i kēia me nā kikoʻī hou aku i kēia lā, no ka mea, he mea nui loa ka ʻike ʻana i kēia.

He aha ka Barber Say Syndrome?

I ka ʻōlelo maʻalahi, he maʻi laha ʻole ka maʻi Barber-Sey. He hānau ʻia ia, ʻo ia hoʻi, aia i ka wā hānau . Hiki i kēia maʻi ke hana i kekahi mau loli a i ʻole nā ​​​​​​hemahema i ke kino o ka pēpē hānau hou, ʻoi aku hoʻi i ke ʻano o waho, e like me ka maka.

Akā, ʻo ka mea nui e hoʻomanaʻo ai ma ʻaneʻi, ʻaʻole kēia maʻi e hoʻopilikia pinepine i nā ʻōpū o loko o ka pēpē a i ʻole nā ​​​​mana noʻonoʻo (cognition) . ʻO ke ʻano kēia, hiki ke noho maʻamau ke ʻano o ka noʻonoʻo a me ke aʻo ʻana o ka pēpē. Eia nō naʻe, ʻokoʻa ke ʻano a me ke koʻikoʻi o kēia mau hōʻailona mai kēlā pēpē a i kēia pēpē. Hiki i kekahi mau pēpē ke ʻike:

• Nā hiʻohiʻona helehelena ʻokoʻa.
• Ka ulu nui ʻana o ka lauoho ma ke ʻano ʻē (hypertrichosis) .
• ʻIli lahilahi loa, palupalu (atrophic) .

ʻO wai ka mea hiki ke loaʻa i kēia maʻi? Pehea ka maʻamau?

ʻOiai he maʻi hoʻoilina ka maʻi Barber-Say, hiki iā ia ke hoʻopilikia i kekahi. Eia nō naʻe, he maʻi kakaikahi loa ia. Loaʻa ia ma lalo o hoʻokahi i hoʻokahi miliona mau hānau ʻana ma ka honua holoʻokoʻa. Manaʻo nā kānaka ʻepekema ma kahi ʻāina e like me ʻAmelika Hui Pū ʻIa, aia ma waena o 1 a me 300 mau kānaka me kēia maʻi. No laila, hiki iā ʻoe ke noʻonoʻo i ka laha ʻole o kēia, ʻeā?

He aha nā hōʻailona? Pehea ʻoe e ʻike ai?

Hiki ke ʻike ʻia nā hōʻailona o ka maʻi Barber-Say i ka wā hānau (congenital) . Eia nō naʻe, e like me ka mea i ʻōlelo ʻia ma mua, ʻaʻole like nā hōʻailona o nā pēpē āpau, a hiki ke ʻokoʻa ke koʻikoʻi o nā hōʻailona.

Nā hiʻohiʻona kikoʻī i ʻike ʻia ma ka maka

Hiki i kēia kūlana ke hana i kekahi mau loli i ʻike ʻia ma ka maka o ka pēpē. Eia kekahi laʻana:

• Ka nele a i ʻole ka ulu maikaʻi ʻole o nā maka maka.
• Nā maka i kaʻawale ākea .
• ʻAʻohe o nā maka maka.
• Nā lihilihi maka i huli ʻia i waho .
• ʻOi aku ka nui o ka hakahaka ma waena o nā kihi o nā maka o ke pēpē kahi e hui ai nā lihilihi maka o luna a me lalo ma mua o ka maʻamau.
• Ihu i luna .
• He ihu nui a poepoe.
• He alahaka ihu ākea.
• Waha ākea.
• Ka puka ʻana o nā niho lohi .

Nā ʻano kino ʻē aʻe

Ma waho aʻe o nā hiʻohiʻona helehelena, hiki iā ʻoe ke ʻike i nā hiʻohiʻona ʻē aʻe e like me:

• ʻO ka ulu nui ʻana o ka lauoho maʻamau ʻole (hypertrichosis) ma luna o ka hapa nui o ke kino o ke pēpē.
• Lilo ka ʻili i palupalu loa a me ke keʻokeʻo . ʻOi aku ka palupalu o kēia ʻili ma mua o ka maʻamau a hoʻi i kona ʻano mua ke kīkoʻo ʻia (ʻili hyperextensible).
• Ka hemahema o ka lohe .
• Ka ʻole a i ʻole ka liʻiliʻi loa o nā ʻiʻo umauma.
• Ka nele a i ʻole ka ulu ʻole ʻana o nā nipples.
• ʻAʻole ulu pono . ʻO ke ʻano kēia, ke piʻi nei ke kaumaha o ka pēpē a ke ulu mālie nei.

No ke aha i kū ai kēia kūlana? He aha nā kumu?

ʻO ke kumu nui o ka maʻi Barber-Say he loli genetic a i ʻole mutation i loko o ka gene `TWIST2` . Hoʻopuka kēia gene i kahi protein e pili ana i ka ulu ʻana o nā hunaola iwi i loko o ko mākou kino. No laila, i ka wā e loaʻa ai kahi kīnā i loko o kēia gene, ʻike ʻia nā hōʻailona e pili ana i kēia maʻi.

Ma muli o ka laha ʻole o kēia maʻi, ua kaupalena ʻia ka noiʻi ʻana i ke ʻano o ka hoʻoilina. I ka hapanui o nā hihia, ʻike ʻia i ka wā e hoʻoilina ai ke keiki i kahi gene mutated mai kekahi o nā mākua, ʻoi aku ka nui o ka loaʻa ʻana o ka maʻi i ke keiki . Ua kapa ʻia kēia he ʻano autosomal dominant .

Eia nō naʻe, i kekahi manawa hiki ke hoʻoilina ʻia ma ke ʻano autosomal recessive . ʻO ke ʻano kēia e loaʻa wale i ke keiki ke kūlana inā loaʻa iā lākou ka gene mutated mai nā mākua ʻelua . I nā hihia ʻē aʻe, hiki i kahi keiki ke loaʻa ke kūlana ma muli o kahi mutation hou (de novo mutation) i loko o ka gene TWIST2 , me ka ʻole o kekahi o ka ʻohana i loaʻa i ka maʻi ma mua.

Pehea e ʻike ʻia ai kēia?

E hana mua ke kauka o kāu pēpē i kahi hoʻokolokolo kino . I loko o kēia hoʻokolokolo ʻana, e nānā lākou i nā hōʻailona kikoʻī o ke kūlana, e like me nā loli o ka helehelena, ka ulu nui ʻana o ka lauoho, a me ke ʻano o ka ʻili. E nīnau pū lākou e pili ana i kou mōʻaukala ʻohana maoli.

No ka hōʻoia ʻana i ka maʻi, e kauoha ke kauka i kahi hoʻāʻo genetic . Pili kēia i ka lawe ʻana i kahi hāpana liʻiliʻi o ke koko o ke pēpē a me ka ʻimi ʻana i nā loli genetic. ʻO ke kikoʻī, ke ʻimi nei lākou i kahi mutation i loko o ka gene 'TWIST2' i ʻōlelo mua ʻia .

He aha nā lāʻau lapaʻau?

ʻO kaʻoiaʻiʻo, ʻaʻohe lāʻau lapaʻau kūikawā no ka maʻi Barber-Say . Eia nō naʻe, ma muli o nā hōʻailona o ka pēpē, hiki ke hoʻopilikino ʻia kahi hoʻolālā lapaʻau kikoʻī no kēlā me kēia pēpē.E hana pū ana ke kauka lapaʻau o kāu pēpē me kahi hui o nā loea e hana i kēia. Hiki i kēia mau mea ke komo pū me:

• Kauka maka : He kauka nāna e nānā a mālama i nā maʻi e pili ana i nā maka a me ka ʻike.
• Kauka ʻili : He kauka nāna e mālama i nā maʻi e pili ana i ka ʻili, ka lauoho, a me nā kui.
• Kākā'ōlelo hoʻoilina : He loea mālama ola kino e kōkua iā ʻoe e hoʻomaopopo i ka pilikia o ka hoʻoilina ʻana i kahi maʻi hoʻoilina a i ʻole ka hoʻoili ʻana iā ia i kāu keiki.

Ma ke ʻano he lāʻau lapaʻau ʻē aʻe, aia kekahi mau ʻano hana ʻoki plastik e hiki ke hana ʻia e hoʻoponopono i nā deformities i ke kino o kahi pēpē. ʻIke ka poʻe he nui i kahi ʻokoʻa nui ma mua a ma hope o kēia mau ʻoki. Hiki i kēia mau ʻoki ke komo pū me:

• ʻO ke ʻoki niho e pili ana i ka maka, ka waha, a i ʻole ka ʻauwae (ʻoki niho maxillofacial).
• ʻO ke ʻoki palaki maka, e like me ke kau ʻana i kahi mea i loko o nā papālina (malar implants).
• ʻO ke ʻoki ʻana i nā lihilihi maka (`blepharoplasty` a i ʻole `tarsorrhaphy`).
• ʻO ke ʻoki hoʻololi i ka ihu (rhinoplasty).
• ʻO ke ʻoki lehelehe `(cheiloplasty)`.
• ʻO ke ʻoki hoʻoponopono ʻana i ka ʻauwae (ʻoki orthognathic).
• ʻO ke ʻoki ʻauwae (genioplasty).
• Hoʻonui umauma (hana ʻia kēia ma hope o ka wā ʻōpio).

ʻO nā koho lapaʻau ʻē aʻe paha:

• ʻO ka lāʻau lapaʻau laser no ka ulu nui o ka lauoho (hypertrichosis).
• Hiki ke mālama ʻia nā pilikia maka ʻē aʻe me nā waimaka hana, nā lubricants maka, a me nā antibiotics .

Aia kekahi ala e pale aku ai i kēia?

No ka mea, he maʻi hoʻoilina ka maʻi Barber-Say, ʻaʻohe ala e pale aku ai . Eia nō naʻe, inā ʻoe e hāpai ana i kahi keiki, he mea nui e kamaʻilio me kāu kauka e pili ana i ka hoʻāʻo hoʻoilina . Hiki i ka hoʻāʻo hoʻoilina ke kōkua iā ʻoe e hoʻomaopopo i kou pilikia o ka hoʻoili ʻana i kekahi mau hoʻoilina i kāu keiki.

He aha ke kūlana o ke ola o kahi keiki me ka Barber Say Syndrome?

ʻOiai paha he mea kaumaha nui kēia e lohe ai, he mea maʻamau ke ola o kekahi me ka maʻi Barber-Se . ʻOiai inā he mau pilikia kino ko kāu pēpē, e like me nā kīnā, e like me ka mea i ʻōlelo ʻia ma mua, ʻaʻole pinepine kēia maʻi e hoʻopilikia i nā ʻōpū o loko a i ʻole ka naʻauao . No laila, pono e ulu maʻamau ka ulu ʻana o ka neʻe o ka pēpē a me ka ulu ʻana o ka ʻōlelo.

Eia naʻe, ʻo ka mea hope loa, ʻo ke olakino lōʻihi o kāu pēpē e hilinaʻi ʻia i ke ʻano a me ke koʻikoʻi o kāna mau hōʻailona. No laila, ʻoi aku ka maikaʻi o ka nīnau ʻana i kāu kauka e pili ana i ka lōʻihi o ke ola o kāu pēpē.

Nā nīnau koʻikoʻi e nīnau aku i kāu kauka

He mea maʻamau ka loaʻa ʻana o nā nīnau he nui ma kou manaʻo i ka manawa e like me kēia. E nīnau i ke kauka o kāu pēpē i nā nīnau e like me kēia e kōkua iā ʻoe e hoʻoponopono i kou mau hopohopo:

• Pehea ka laha ʻole o kēia maʻi i kaʻu pēpē?
• Pehea ke koʻikoʻi o nā hōʻailona o kaʻu pēpē?
• He aha ke ʻano o ka lāʻau lapaʻau e pono ai kaʻu pēpē?
• He aha ke ʻano o ke ʻoki kino e pono ai kaʻu pēpē?
• He aha ka lōʻihi o ke ola o kaʻu pēpē?

Hiki i ka lilo ʻana i makua no ka manawa mua ke lilo i mea hoʻoweliweli. ʻOi aku ka paʻakikī o ka ʻike ʻana he maʻi genetic kakaʻikahi ko kāu pēpē. Inā loaʻa i kāu pēpē ka maʻi Barber-Sey, e noʻonoʻo e hui pū me kahi hui kākoʻo no nā ʻohana o nā keiki me nā maʻi kakaʻikahi . Hiki i kēlā hui ke lilo i ala maikaʻi loa e loaʻa ai nā pane i kāu mau nīnau a loaʻa ka manaʻolana no ke kūlana o kāu pēpē.

ʻO ka mea hope loa, leka lawe i ka home

Ke lana nei ko mākou manaʻo ua hāʻawi mai nā mea a mākou i kūkākūkā ai iā ʻoe i kahi ʻike e pili ana i ka Barber Say Syndrome. E hoʻomanaʻo, ʻoiai inā he mau loli kino ko kāu pēpē i ke ʻano, pono e maʻamau kona mau hiki ke noʻonoʻo . ʻO ke ʻano kēia , pono i kāu keiki ke ola maʻamau a huahua .

ʻO ka mea nui loa, ʻaʻole e hopohopo, e kiʻi i ka ʻōlelo aʻoaʻo lapaʻau kūpono, a hāʻawi i kāu pēpē i ke aloha a me ka mālama e pono ai. Inā he mau nīnau kāu, e kamaʻilio ākea me kāu mau kauka. Ua mākaukau lākou e kōkua iā ʻoe.

Lana ko mākou manaʻo ua pono kēia ʻike iā ʻoe!

ʻO ka maʻi Barber Say, nā maʻi hoʻoilina, nā maʻi laha ʻole, ke olakino o ke keiki, nā kīnā o ka maka, nā maʻi ʻili, ke aʻoaʻo hoʻoilina