Loaʻa iā ʻoe kekahi pohō lohe me ka loli o ka ʻili, ka lauoho, a me ke kala o nā maka? E kamaʻilio kākou e pili ana i kēia (Waardenburg Syndrome)!

I kekahi manawa ua ʻike paha ʻoe i waena o ko mākou poʻe, aia kekahi poʻe i loaʻa kahi ʻāpana lauoho keʻokeʻo mai ka wā kamaliʻi, a i ʻole ka poʻe i loaʻa kekahi maka polū a ʻo kekahi maka ʻeleʻele. Loaʻa i kekahi poʻe nā pilikia lohe mai ka wā kamaliʻi. I kekahi manawa aia paha ke kumu genetic ma hope o ia mau mea a mākou i ʻike ʻole ai. ʻO ia kekahi ʻano kūlana kūikawā a mākou e kamaʻilio ai i kēia lā (Waardenburg Syndrome) . Mai makaʻu, e kamaʻilio maʻalahi mākou e pili ana i kēia, ma ke ʻano hiki iā ʻoe ke hoʻomaopopo.

He aha ka Waardenburg Syndrome? Hoʻopuka maʻalahi ...

ʻAe, e nānā kākou i kēia (Waardenburg Syndrome). He maʻi genetic kēia. ʻO ia hoʻi, ua hoʻololi ʻia e ka loli o nā genes i loko o ko kākou kino. I mea e pololei ai, hiki i kēia maʻi ke hoʻololi i ke kala (pigmentation) o kou lauoho, maka, a me ka ʻili . ʻAʻole wale ia, akā hiki i kekahi poʻe ke loaʻa i nā pilikia lohe ma muli o kēia. ʻEhā ʻano nui o kēia (Waardenburg Syndrome). Hoʻokumu ʻia kēia mau ʻano e nā loli like ʻole (mutations) i loko o ʻeono genes. Loaʻa i kēlā me kēia ʻano kekahi mau ʻano kūikawā.

ʻO wai ka mea i loaʻa iā Waardenburg Syndrome?

ʻOiai he maʻi hoʻoilina kēia, hiki iā ia ke hoʻopilikia i kekahi. ʻO ka hapa pinepine, hoʻoilina ke keiki i ka gene no kēia maʻi mai ka makuahine a i ʻole ka makuakāne. Ma nā ʻōlelo lapaʻau, ua kapa ʻia kēia he hoʻoilina "autosomal dominant" . I kēlā hihia, ʻo ka makua nāna i hāʻawi i ka gene maʻamau he maʻi nō hoʻi. E noʻonoʻo, inā he mau ʻano kēia o ka makuahine a i ʻole ka makuakāne, hiki i ke keiki ke loaʻa iā lākou.

Eia nō naʻe, i kekahi manawa hiki ke hoʻoili ʻia nā ʻano maʻi Waardenburg ʻano II a me IV ma ke ʻano he gene "autosomal recessive" . ʻO ke ʻano kēia he mau mea lawe nā mākua ʻelua i ka gene i hoʻopilikia ʻia, akā ʻaʻohe o lākou mau hōʻailona. Eia nō naʻe, inā hoʻoili nā mākua ʻelua i ka gene i kā lāua keiki, hiki i ke keiki ke loaʻa i ke kūlana.

He mea kākaʻikahi loa, hiki ke ulu aʻe kēia ʻano ma ke kanaka me ka ʻole o ka mōʻaukala ʻohana, ma muli o kahi hoʻololi hoʻoilina hou.

Pehea ka maʻamau o kēia?

Hoʻopilikia ka Waardenburg Syndrome i hoʻokahi i loko o 40,000 mau kānaka . ʻO ia ke kuleana no ma waena o 2% a me 5% o ka nalowale o ka lohe hānau.

Pehea ka hopena o ka Waardenburg Syndrome i koʻu kino?

Hiki i nā hoʻololi genetic e hoʻoulu ai i kēia ke hoʻopilikia i kou lohe . Loaʻa i kekahi poʻe ka lohe maʻamau, akā ua hānau ʻia kekahi me ka nalowale o ka lohe (congenital). Hiki i kēia mau genes ke hoʻololi i ke ʻano o kou mau maka, ʻili, a me ka lauoho . Loaʻa paha iā ʻoe ʻelua a ʻoi aku paha nā maka kala like ʻole. Hiki i kēia kūlana ke hoʻomāmā i kekahi mau wahi o kou ʻili ma mua o nā mea ʻē aʻe, e loli ke kala o kou lauoho, a e hina kou lauoho, ʻoiai i ka wā ʻōpiopio loa .

He aha nā hōʻailona o ka maʻi Waardenburg?

ʻOkoʻa nā hōʻailona o kēia maʻi mai kēlā kanaka a kēia kanaka. Hiki iā lākou ke ʻokoʻa i loko o ka ʻohana hoʻokahi. ʻO nā hōʻailona nui ka nalowale o ka lohe a me ka pigmentation o ka lauoho, ka ʻili, a me nā maka. Eia kekahi, aia nā hōʻailona kikoʻī ma muli o ke ʻano o ka Waardenburg Syndrome. No ka laʻana, ma ke ʻano 1, aia ka hoʻonui ʻia o ka mamao ma waena o nā maka, ma ke ʻano 3, nā ʻano ʻē i nā lima a me nā manamana lima, a ma ke ʻano 4, kahi maʻi ʻōpū i kapa ʻia ʻo ka maʻi Hirschsprung .

Ka hemahema o ka lohe

Hiki i kekahi poʻe me ka Waardenburg Syndrome ke loaʻa i ka nalowale o ka lohe ma waena a koʻikoʻi paha ma kekahi a i ʻole nā ​​pepeiao ʻelua. Eia nō naʻe, i kekahi mau hihia, ʻaʻole paha e hoʻopilikia iki ʻia ka lohe. He mea hānau mai kēia nalowale o ka lohe.

Nā hōʻailona pigmentation

Hiki i ka Waardenburg Syndrome ke hoʻololi i kou lauoho, ʻili, a me ke kala o nā maka, e like me:

• Nā maka polū māmā loa.
• He mau maka ʻelua o nā waihoʻoluʻu ʻelua. E noʻonoʻo, he uliuli kekahi a he ʻeleʻele kekahi.
• ʻO ka Heterochromia irides kahi hoʻololi o ke kala i ka ʻāpana kala o ka maka (iris) ʻoiai i loko o ka maka hoʻokahi.
• ʻO ke alo o kahi puʻupuʻu lauoho keʻokeʻo a i ʻole kahi puʻupuʻu lauoho i loko o ka lauoho, ma luna o ka lae (forelock).
• ʻO ke hina ʻana o ka lauoho i ka wā ʻōpiopio loa.
• Loaʻa nā kiko a i ʻole nā ​​​​​​pale ma ka ʻili i ʻoi aku ka māmā ma mua o nā wahi ʻē aʻe (congenital leukoderma) .

He aha nā ʻano o Waardenburg Syndrome?

ʻEhā ʻano nui o ka Waardenburg Syndrome. E ʻike ke kauka i kēia ʻano ma muli o kāu mau hōʻailona.

• ʻAno I: Ua ākea loa ka mamao ma waena o nā maka, a ua ākea ke alahaka o ka ihu.
• ʻAno II: Pohō lohe waena a koʻikoʻi paha.
• ʻAno III - Ua kapa ʻia hoʻi ʻo "Klein-Waardenburg syndrome": ka nalowale o ka lohe, nā loli o ka waihoʻoluʻu ʻili, a me nā ʻano ʻē i ka ulu ʻana o ka iwi o nā lima a me nā manamana lima.
• ʻAno IV - ʻIke ʻia hoʻi ʻo Waardenburg-Shah syndrome: Me nā hiʻohiʻona ʻē aʻe a pau o ka Waardenburg syndrome, loaʻa pū kekahi maʻi i kapa ʻia ʻo ka maʻi Hirschsprung . Hiki i kēia ke hana i ka paʻa ʻana o ka ʻōpū a i ʻole ka pale ʻana o ka ʻōpū.

ʻO kēia mau mea, ʻo nā ʻano I a me II nā mea maʻamau. He mea kākaʻikahi loa nā ʻano III a me IV.

He aha nā kumu o ka maʻi Waardenburg?

Hoʻokumu ʻia ka maʻi Waardenburg e kahi mutation i hoʻokahi a ʻoi aku paha o nā genes ma lalo nei:

• `(EDN3)` (no ke ʻano IV)
• `(EDNRB)` (no ke ʻano IV)
• `(MITF)` (no ke ʻano II)
• `(PAX3)` (no nā ʻano I a me III)
• `(SNAI2)` (no ke ʻano II)
• `(SOX10)` (no ke ʻano IV)

ʻO kēia mau genes ka mea e hana ai i nā ʻano ʻano cell like ʻole i loko o ko kākou kino. I waena o lākou, aia kahi ʻano cell kūikawā i kapa ʻia ʻo "melanocytes" i hana ʻia me kēia mau cell. Hoʻopuka kēia mau cell i ka pigment "melanin pigment" e hāʻawi ana i ke kala i ko kākou ʻili, lauoho, a me nā maka.Ma waho aʻe o ka hana ʻana i nā pigments, kōkua pū kēia mau cell i ka hana o ka ʻaoʻao o loko o ko kākou pepeiao. No laila, inā he loli i kekahi o kēia mau genes, hiki iā ia ke hana i kēia mau hōʻailona.

Pehea e ʻike ʻia ai ʻo Waardenburg Syndrome?

E ʻike paha ke kauka o kāu keiki i ka maʻi Waardenburg i ka wā hānau a i ʻole i ka wā kamaliʻi . E hana lākou i kahi hoʻokolokolo kino e nānā i nā hōʻailona a me ka mōʻaukala olakino o kou ʻohana. Hiki i kāu kauka ke ʻōlelo aku i ka hoʻāʻo genetic e hōʻoia i ka hōʻailona a e nānā i nā hōʻailona ʻē aʻe e pili ana i ke kūlana, e like me:

• He hoʻokolokolo maka.
• He hoʻāʻo hoʻolohe .
• Ma muli o ke ʻano o nā hōʻailona, ​​​​hiki ke hana ʻia nā hoʻokolohua kiʻi ma ka pepeiao o loko, nā lima a me nā manamana lima, a i ʻole nā ​​​​ʻōpū.

Pehea e mālama ʻia ai ʻo Waardenburg Syndrome?

ʻAʻole pono ka mālama ʻana i nā ʻano āpau o ka Waardenburg Syndrome. Eia nō naʻe, inā he mau hōʻailona, ​​​​mālama ʻia lākou e like me ka mea e pono ai. Eia kekahi laʻana:

• Ke hoʻohana nei i nā mea kōkua hoʻolohe a i ʻole ke ʻoki ʻana i kahi cochlear implant no ka pilikia o ka lohe.
• Ke hoʻohana nei i ka sunscreen e pale i nā wahi me nā loli o ka pigmentation ʻili mai ka lā .
• Inā loaʻa iā ʻoe ka paʻa ʻana o ka ʻōpū (ʻoi aku ka ʻano IV), e lawe i ka lāʻau lapaʻau a i ʻole kahi meaʻai kiʻekiʻe i ka fiber .
• ʻO ke ʻoki kino e wehe ai a hoʻoponopono paha i kahi ʻāpana i paʻa o ka ʻōpū (ʻano IV).
• Ka hoʻohana ʻana i nā lotion topical a i ʻole nā ​​​​​​mea ʻaila e mālama ai i ke olakino o ka ʻili.

Hiki ke pale ʻia ka Waardenburg Syndrome?

ʻOiai ua hoʻokumu ʻia kēia e kahi mutation genetic, ʻaʻohe ala maoli e pale aku ai . Eia nō naʻe, inā makemake ʻoe e ʻike i kou pilikia o ka loaʻa ʻana o kahi keiki me kahi maʻi genetic, hiki iā ʻoe ke kamaʻilio me ke kauka e pili ana i ke aʻo ʻana a me ka hoʻāʻo ʻana i ka genetic .

He aha kaʻu e manaʻo ai inā loaʻa i kaʻu keiki ʻo Waardenburg Syndrome?

Inā ua ʻike ʻia kāu keiki me ka Waardenburg Syndrome, he mea nui e loaʻa nā hoʻokolohua lohe maʻamau i ko lākou ola a pau. Hiki paha i kēia ke pili i ka ʻike ʻana i ke kauka a i ʻole ka mea loea pepeiao. ʻO kēia no ka mea hiki i nā pilikia lohe e kū mai ana i ka wā kamaliʻi ke hoʻopaneʻe i nā hanana ulu a hoʻopilikia i ka ulu ʻana o ka noʻonoʻo . Eia nō naʻe, hiki i ka poʻe me kēia maʻi ke pōmaikaʻi pinepine mai nā implants cochlear a me nā mea kōkua lohe .

ʻO ka mea nui loa, ʻo ia ka ʻike mua ʻana i ka nalowale o ka lohe o kāu keiki a hāʻawi i ke kōkua e pono ai.

ʻO ka lauoho, ka maka, a me ke kala o kāu keiki e hoʻolilo iā lākou i mea hilahila a ʻokoʻa hoʻi mai ko lākou mau hoa. I ia mau hihia, loaʻa i kekahi mau keiki ka pōmaikaʻi mai nā ʻano hana aʻoaʻo noʻonoʻo e like me ka cognitive behavioral therapy (CBT) e kōkua iā lākou e kūkulu i ko lākou hilinaʻi iā lākou iho.

He ola maʻamau ko ka poʻe me ka Waardenburg Syndrome. ʻAʻohe lāʻau lapaʻau no kēia, akā hiki ke mālama ʻia nā hōʻailona a hiki i ka poʻe ke ola i kahi ola maikaʻi.

Āhea wau e ʻike ai i ke kauka?

Inā paʻakikī kāu mau hōʻailona i ka hana ʻana i nā hana o kēlā me kēia lā, ʻoiai inā he pohō kou lohe , a inā he mau pilikia kou e like me ka paʻa pinepine ʻana o ka ʻōpū , e ʻike pono i ke kauka.

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

Ke hele ʻoe e ʻike i ke kauka, hiki iā ʻoe ke nīnau i nā nīnau e like me kēia:

• Pono anei iaʻu e hoʻohana i kahi mea kōkua hoʻolohe?
• Pono anei au i ke ʻoki kino e hoʻomaikaʻi ai i koʻu lohe?
• Pehea e hiki ai iaʻu ke pale i koʻu ʻili mai ka lā?
• Inā he mau loli ke kala o koʻu lauoho, hiki iaʻu ke hoʻoluʻu i koʻu lauoho?

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

ʻOiai paha he mau loli kou helehelena ma muli o ka Waardenburg Syndrome, ʻo ia mau mea ka mea e hoʻolilo ai iā ʻoe i mea kūikawā . I kekahi manawa, ʻoi aku hoʻi i nā keiki, inā hoʻoluhi kēia mau hōʻailona iā ʻoe, he manaʻo maikaʻi ke kamaʻilio me kahi kākāʻōlelo olakino noʻonoʻo e kōkua iā lākou e kūkulu i ko lākou hilinaʻi iā lākou iho . Inā ua ʻike ʻia kāu keiki me ka Waardenburg Syndrome, e nānā pono i kā lākou mau hanana ulu i ko lākou wā kamaliʻi. E kōkua kēia i ka hōʻoia ʻaʻole e hoʻopilikia nā hōʻailona i ko lākou ulu ʻana o ka noʻonoʻo a i ʻole ko lākou hiki ke ulu maikaʻi. Mai hopohopo, me ka ʻōlelo aʻoaʻo lapaʻau kūpono a me ke kākoʻo, hiki iā ʻoe ke ola me kēia maʻi!

ʻO ka maʻi Waardenburg, nā maʻi hoʻoilina, ka loli o ke kala o ka ʻili, ka loli o ke kala o ka lauoho, ka loli o ke kala o nā maka, ka hemahema o ka lohe, ka nalowale o ka lohe hānau ʻana