He mau puʻupuʻu a puʻupuʻu paha kou i ʻike ʻole ʻia ma kou kino? He Schwannomatosis paha ia!

Ke manaʻo nei ʻoe i kekahi manawa i kahi ʻeha mau a wehewehe ʻole ʻia i loko o kou kino? A i ʻole ke manaʻo nei ʻoe i kekahi manawa i nā puʻupuʻu liʻiliʻi ma lalo o kou ʻili? ʻOiai ʻaʻole mākou e nānā nui i kēia mau mea, i kekahi manawa hiki ke lilo i mau hōʻailona o kahi maʻi. I kēia lā, e kamaʻilio mākou e pili ana i kahi maʻi i lohe pinepine ʻole ʻia, akā he mea nui e ʻike e pili ana. ʻO ia ke ʻano i kapa ʻia ʻo 'Schwannomatosis'.

He aha ka ʻōlelo ʻo `Schwannomatosis`? E hoʻomaopopo maʻalahi kākou!

I ka ʻōlelo maʻalahi, ʻo Schwannomatosis kahi maʻi i hoʻokumu ʻia e kekahi mau loli i loko o kā mākou mau genes. ʻO kēia ka wā e ulu ai nā tumors (nā tumors) i loko o ka ʻōnaehana nerve o ko mākou kino, ʻo ia hoʻi, i loko o nā aʻalolo. Kāhea mākou i kēia mau tumors ʻo 'schwannomas'. Hoʻomohala kēia mau 'schwannomas' mai kahi ʻano cell kūikawā e hoʻopuni ana i ko mākou mau aʻalolo a hana ma ke ʻano he insulator. Ua kapa ʻia kēia mau cell ʻo 'nā cell Schwann'. Loaʻa nui lākou i loko o kā mākou ʻōnaehana nerve peripheral - ʻo ia hoʻi, i loko o nā aʻalolo e hoʻonui ana mai ka lolo a me ke kaula spinal, i loko o nā aʻalolo, a me kahi e pili ai nā aʻalolo i nā ʻiʻo.

ʻO Schwannomatosis kahi maʻi e hōʻike pinepine ʻia me ka ʻeha mau loa i nā pākeke ʻōpio, ma waena o 20 a me 40 mau makahiki. He ʻano ʻē aʻe ia o ka neurofibromatosis, kahi hui o nā puʻupuʻu e hana ʻia i loko o ka ʻōnaehana nerve.

Aia kekahi mau ʻano o ka Schwannomatosis?

ʻAe, aia kekahi mau ʻano nui o Schwannomatosis. Ua hoʻokaʻawale ʻia kēia mau mea e like me ke ʻano genetic e kumu ai kēlā me kēia ʻano. ʻO kēia mau ʻano:

• ʻO `NF2` - pili i ka `schwannomatosis` (i kapa ʻia ma mua ʻo `neurofibromatosis type 2`).
• `SMARCB1` - pili i ka `schwannomatosis`.
• ʻLZTR1 - pili i ka ʻano schwannomatosis.
• ʻO `22q` - pili i ka `schwannomatosis` (hoʻokumu ʻia kēia e kahi loli ma kahi ʻāpana o ka chromosome 22).
• ʻAʻole i kuhikuhi ʻia ʻo Schwannomatosis (NOS).
• ʻAʻole i hoʻokaʻawale ʻia ʻo Schwannomatosis ma kahi ʻē aʻe (NEC).

ʻOiai paha he mea paʻakikī iki kēia mau inoa, ʻo ka hoʻokaʻawale ʻana iā lākou ma kēia ʻano he kōkua nui ia no nā kauka i ka ʻike pololei ʻana i ka maʻi a me ka hāʻawi ʻana i nā ʻōlelo aʻoaʻo kūpono.

Pehea ka laha ʻole o kēia maʻi i kapa ʻia ʻo 'Schwannomatosis'?

ʻO Schwannomatosis ke ʻano kakaikahi loa o ka hui neurofibromatosis. ʻOkoʻa nā kuhi pololei o ka nui o ka poʻe i loaʻa iā ia. Manaʻo kekahi mau noiʻi e hiki i ka schwannomatosis e pili ana iā NF2 ke hoʻopilikia i kahi o hoʻokahi i loko o 30,000 mau kānaka . Ke hui pū ʻia nā ʻano ʻē aʻe, hoʻopilikia ia i kahi o hoʻokahi i loko o 70,000 mau kānaka .

ʻAʻole nā ​​kānaka a pau e loaʻa ana i ka schwannomatosis he schwannomatosis. I loko o ka schwannomatosis, hana ʻia nā schwannoma he nui. Ma keʻano laulā, ʻoi aku ka maʻamau o ka schwannoma hoʻokahi ma mua o ka schwannomatosis he nui. ʻO ke ʻano kēia, ʻaʻole ia e hana maoli i nā poʻe he nui.

He aha nā hōʻailona o Schwannomatosis?

ʻO ka hōʻailona nui a maʻamau i ʻike ʻia ma kēia ʻano, ʻo ia ka ʻeha . Loaʻa kēia ʻeha no ka mea ke ʻomi nei nā puʻupuʻu schwannoma i nā aʻalolo a me nā ʻiʻo a puni. Pehea lā ke ʻano o kēia ʻeha?

• Hiki ke lilo i ʻeha mau loa , ʻo ia hoʻi hiki ke mau no nā mahina, a hiki i nā makahiki.
• Hiki ke ʻokoʻa ke ʻano o ka ʻeha mai ka ʻoluʻolu a i ka koʻikoʻi .
• Hiki ke ʻike ʻia kēia ʻeha ma nā wahi āpau o ke kino , ʻaʻole wale ma kahi o ka puʻupuʻu. I kekahi manawa, hiki ke ʻeha ma kahi i pili ʻole i ka wahi o ka puʻupuʻu.
• Hiki ke hoʻonui ʻia ka ʻeha i ka hala ʻana o ka manawa.

E noʻonoʻo, loaʻa iā ʻoe kahi ʻeha mau e iho ana i lalo i kou wāwae, me ka mae ʻana. ʻAʻole ia e nalo ma hope o ka lawe ʻana i ka lāʻau lapaʻau. Manaʻo paha ʻoe he anu wale nō ia. Akā he ʻeha paha ia i hoʻokumu ʻia e Schwannomatosis.

Ma waho aʻe o ka ʻeha, hiki ke loaʻa nā hōʻailona ʻē aʻe ma muli o ka wahi o ka puʻupuʻu. Eia kekahi laʻana:

• He ʻano ʻūlili a i ʻole he manaʻo e like me ka haʻalulu uila .
• Ka nāwaliwali o nā ʻiʻo a i ʻole ka emi ʻana o ka hana a nā ʻiʻo.
• Hiki ke ʻike ʻia nā puʻupuʻu a i ʻole nā ​​​​pehu ʻana ma lalo o ka ʻili (kahi i hoʻokumu ʻia ai nā puʻupuʻu) ma ka lima.

ʻOiai hoʻomaka kēia mau hōʻailona ma hope o 20 mau makahiki a ma mua o 40 mau makahiki , hōʻike nā noiʻi hiki iā lākou ke ʻike ʻia i kēlā me kēia makahiki.

He aha ke kumu o ka Schwannomatosis?

ʻO ke kumu nui o Schwannomatosis he ʻano hoʻololi genetic (mutation). He ʻoiaʻiʻo loa kēia no nā genes i kapa ʻia ʻo NF2, SMARCB1, a i ʻole LZTR1. Aia kēia mau genes ma ka chromosome 22 .

Hana kēia mau genes ma ke ʻano he 'nā mea hoʻopau tumor', nāna e kāohi i ke kūkulu ʻia ʻana o nā tumors i loko o ko kākou kino. ʻO ia hoʻi, hoʻoponopono kēia mau genes i ka nui o nā manawa e ulu ai a māhele ʻia ai nā cell. No laila, inā he 'mutation' i loko o kahi gene 'tumor suppressor' e like me kēia, ʻaʻole i loaʻa i kā mākou mau cell nā kuhikuhi e pono ai lākou e kāohi i ka ulu ʻana o nā cell. ʻO ka hopena, hoʻomaka nā cell e ulu a māhele wikiwiki loa, me ka ʻole o ke kāohi. Pēlā i hana ʻia ai kēia mau 'tumors'.

I kekahi mau hihia o Schwannomatosis, ʻaʻole paha i ʻike ʻia ke kumu pololei. ʻO ke ʻano kēia, hiki ke hana ʻia ke kūlana me ka ʻole o kahi mutation genetic i ʻike ʻia i kēia manawa.

He hoʻoilina anei kēia? (`He hoʻoilina anei ka schwannomatosis?`)

ʻO kekahi mau hihia o ka 'Schwannomatosis'Hiki ke hoʻoilina ʻia . Ma ke ʻano kikoʻī, ma waena o 15% a me 25% o ka poʻe me Schwannomatosis he mōʻaukala ʻohana o ke ʻano. Hoʻoili ʻia ia ma ke ʻano autosomal dominant. I ka ʻōlelo maʻalahi, inā hoʻoilina kekahi o nā mākua i kahi kope o ka gene e lawe ana i ka loli genetic, e loaʻa paha i ke keiki ke ʻano.

Eia nō naʻe, ʻo ka hapa nui o nā hihia o Schwannomatosis e kū pinepine ʻole . ʻO ia hoʻi, hiki i kekahi ke hoʻomohala i ka Schwannomatosis ma ka hoʻomohala ʻana i kēia hoʻololi genetic, ʻoiai inā ʻaʻohe mea o ka ʻohana i loaʻa i ke ʻano ma mua.

He aha nā pilikia e hiki mai ana o Schwannomatosis?

ʻO ka hapa nui o nā puʻupuʻu schwannoma he mau puʻupuʻu ʻaʻole maʻi kanesa, ʻino ʻole (nā puʻupuʻu maikaʻi ʻole). ʻO ia hoʻi, ʻaʻole lākou he maʻi kanesa. Eia naʻe, he mea kakaikahi loa, hiki i kekahi mau puʻupuʻu ke lilo i maʻi kanesa. ʻO ia ke kumu e nānā nui nei nā kauka i kēia.

ʻO kekahi pilikia nui, ʻo ia ka ʻeha mau loa . Hiki i kēia ʻeha mau ke loaʻa ka hopena koʻikoʻi i ke olakino noʻonoʻo o ke kanaka. Ke paʻakikī ka hana ʻana i nā hana o kēlā me kēia lā a i ka wā hiki ʻole iā lākou ke noho ponoʻī, hiki ke kū mai nā kūlana e like me ke kaumaha a me ka hopohopo . No laila, he nui ka poʻe e ʻike he mea kōkua ke kamaʻilio ʻana me kahi kākāʻōlelo olakino noʻonoʻo i ia mau kūlana.

Pehea e ʻike ʻia ai ka Schwannomatosis?

E ʻike ke kauka i kēia kūlana ma ka hana ʻana i kahi hoʻokolokolo kino a me nā hoʻāʻo . I ka wā o ka hoʻokolokolo ʻana, e nīnau ke kauka iā ʻoe e pili ana i kāu mau hōʻailona, ​​​​pehea ka lōʻihi o ko lākou noho ʻana, a inā paha ua loaʻa i kekahi o kou ʻohana nā kūlana like.

Ma muli o ke ʻano like o nā hōʻailona o ka schwannomatosis me nā maʻi ʻē aʻe a he mea paʻakikī ke kuhikuhi i kahi e puka mai ai ka ʻeha, hiki i kekahi manawa ke paʻakikī ke hana koke i kahi hōʻailona. Eia nō naʻe, no ka mea ke hoʻohana nei nā kauka i nā pae hōʻailona hou, ʻoi aku ka maʻalahi o ka ʻike ʻana i nā ʻano schwannomatosis. No ka laʻana, i mea e ʻike ʻia ai me ka schwannomatosis e pili ana iā SMARCB1, pono ʻoe e loaʻa i hoʻokahi o kēia mau mea:

• Pono ma ka liʻiliʻi he hoʻokahi schwannoma, a pono e hōʻoia kahi hoʻokolohua genetic e hoʻohana ana i ke koko a i ʻole ka lawai aia kahi mutation i loko o ka gene SMARCB1.
• Pono ma ka liʻiliʻi he ʻelua schwannomas, a pono e hōʻoia ka biopsy o kekahi o nā puʻupuʻu he SMARCB1 genetic mutation kona.

He aha nā hoʻokolohua i hoʻohana ʻia e hōʻoia i ka Schwannomatosis?

Hiki i nā hoʻokolohua kiʻi e like me ka MRI (Magnetic Resonance Imaging) ke kōkua i kāu kauka e ʻike i ka schwannoma. Inā loaʻa kahi puʻupuʻu ma kēia hoʻokolohua, hiki i kāu kauka ke lawe i kahi hāpana liʻiliʻi o ka puʻupuʻu no ka hoʻāʻo ʻana (he biopsy).Hiki iā ʻoe ke kauoha iā ia. A laila, ma ka nānā ʻana i nā ʻāpana ma lalo o kahi microscope, hiki iā ʻoe ke ʻike pono i ke ʻano o ka puʻupuʻu. Eia kekahi, hiki i kahi hoʻāʻo koko genetic ke ʻike inā loaʻa iā ʻoe ka loli genetic e kumu ai kēlā me kēia ʻano.

Pehea e mālama ʻia ai ʻo Schwannomatosis?

ʻO kaʻoiaʻiʻo, ʻaʻohe lāʻau lapaʻau no Schwannomatosis i kēia manawa , no laila ʻo ka pahuhopu nui o ka mālama ʻana, ʻo ia ka mālama ʻana i nā hōʻailona .

Hiki i kāu kauka ke kuhikuhi i nā lāʻau lapaʻau like ʻole e kōkua i ka hōʻoluʻolu ʻana i kou ʻeha . E hilinaʻi kēia mau lāʻau lapaʻau i nā mea e like me kahi o kou ʻeha a me kona koʻikoʻi.

Inā ʻaʻole i kāohi ʻia ka ʻeha me ka lāʻau lapaʻau, a inā ʻeha loa ka ʻeha, e noʻonoʻo paha kāu kauka i ka wehe ʻana i ka schwannoma me ke ʻoki kino a i ʻole ka kuhikuhi ʻana i nā hoʻokolohua lapaʻau . Eia nō naʻe, e hoʻoholo kāu kauka inā he mau koho palekana kēia nāu. Hiki i ke ʻoki kino ke hōʻino i nā aʻalolo, a aia kahi manawa e ulu hou ai nā puʻupuʻu ma hope o ka wehe ʻana.

He aha ka wānana no kekahi me Schwannomatosis?

ʻOkoʻa maoli kēia mai kēlā kanaka a kēia kanaka . Aia ia i ka nui, ka helu, a me kahi o nā puʻupuʻu schwannoma i loko o kou kino. Loaʻa paha i kekahi poʻe kekahi mau puʻupuʻu wale nō, aʻo kekahi poʻe he nui. Aia paha lākou ma kahi hoʻokahi ma ke kino, a i ʻole e pālahalaha ʻia paha ma nā wahi he nui. No laila, ʻaʻole like nā hōʻailona no kēlā me kēia kanaka.

ʻO ka hōʻailona hoʻoluhi loa o Schwannomatosis ka ʻeha mau loa . ʻO ka noho ʻana me ka ʻeha, ʻoiai inā he koʻikoʻi, hiki ke lilo i mea paʻakikī maoli. Hiki i kēia ʻeha ke hoʻopilikia i kou olakino noʻonoʻo a me ke kino. Inā ʻo nā hōʻailona o Schwannomatosis ke hoʻoluhi nei iā ʻoe a hiki ʻole paha ke hana i kou ola pilikino a pilikanaka paha, e kamaʻilio me ke kauka. Hiki i ke kamaʻilio ʻana me ke kākāʻōlelo olakino noʻonoʻo ke kōkua pū kekahi.

Aia nā lāʻau lapaʻau e kōkua i ka kaohi ʻana i nā hōʻailona. Loaʻa i ka nui o ka poʻe ka hōʻoluʻolu mai nā hōʻailona me ka lāʻau lapaʻau. Pono paha kekahi i ke ʻoki ʻana e wehe i ka cyst. Akā e hoʻomanaʻo, aia kahi manawa e ulu hou ai ka cyst ma hope o ka wehe ʻia ʻana.

Ke hoʻopilikia nei ʻo Schwannomatosis i ke ola?

ʻAʻole pili pololei ka Schwannomatosis i ka manaʻolana ola . Eia nō naʻe, hiki i ka ʻeha mau a me nā hōʻailona ʻē aʻe e hoʻoulu ai ke hoʻopilikia i ka maikaʻi o ke ola. Inā he mau hopohopo kāu e pili ana i kēia, ʻoi aku ka maikaʻi o ke kamaʻilio pololei ʻana me kāu kauka. No ka mea, ʻokoʻa ke kūlana o kēlā me kēia kanaka, ʻo ia wale nō ke hāʻawi iā ʻoe i ka ʻike hou loa e pili ana i kou kūlana.

Āhea wau e ʻike ai i ke kauka?

He ʻeha hiki ʻole iā ʻoe ke loaʻa ke kumu.Inā loaʻa iā ʻoe nā hōʻailona e like me ka nāwaliwali o nā ʻiʻo , e ʻike pono i ke kauka. Eia kekahi, inā ʻike ʻoe i kahi puʻupuʻu hou a i ʻole ka puʻupuʻu ma kekahi wahi o kou kino, he mea nui e hōʻike iā ia i ke kauka.

Inā loaʻa iā ʻoe ʻo Schwannomatosis, e hoʻomaopopo i kāu kauka inā ʻike ʻoe i kekahi loli i kāu mau hōʻailona, ​​​​e like me ka hoʻonui ʻia o ka ʻeha.

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

Ke ʻike ʻoe i kāu kauka, he mea kōkua ke nīnau i nā nīnau e like me kēia:

• He aha kaʻu e hana ai e mālama i ka ʻeha?
• Aia kekahi mau koho ʻē aʻe ma waho aʻe o nā lāʻau lapaʻau ʻeha?
• E pono anei iaʻu ke ʻoki kino?
• He aha nā hopena ʻaoʻao o ka lāʻau lapaʻau?
• Hiki i kaʻu mau keiki ke hoʻoilina i kēia maʻi i ka wā e hiki mai ana?

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

Hiki ke paʻakikī loa ka noho ʻana me ka ʻeha mau loa e hele mai me Schwannomatosis. ʻOi aku ka maʻalahi o kekahi mau lā ma mua o nā lā ʻē aʻe. ʻOiai inā he mau hoʻolālā kāu, hiki i ka ʻeha ke koi iā ʻoe e hoʻopanee iā lākou a noho ma ka home e hoʻomaha. Hiki i kēia ke hoʻopilikia i kāu mau hana pilikino a me nā hana pilikanaka. Akā, mai ʻae iā Schwannomatosis e kāohi i kou ola.

Hiki i ke kauka ke kōkua iā ʻoe e ʻike i ka hoʻolālā lapaʻau maikaʻi loa e hoʻokele i kāu mau hōʻailona. Inā hoʻopilikia ka ʻeha mau i kou olakino noʻonoʻo, hiki iā ʻoe ke pōmaikaʻi mai ka ʻike ʻana i kahi kākāʻōlelo olakino noʻonoʻo . Hiki i ke ʻoki kino a me nā hoʻokolohua lapaʻau ke koho. No laila, e nīnau i kāu kauka i nā mea i loaʻa e kōkua iā ʻoe e noho ma mua o nā hōʻailona o Schwannomatosis. E hoʻomanaʻo ʻaʻole ʻoe hoʻokahi, a aia nā kauka a me nā hui kākoʻo e kōkua iā ʻoe ma kēia huakaʻi.

ʻO Schwannomatosis, neurofibromatosis, ʻeha mau loa, nā maʻi hoʻoilina, NF2, SMARCB1, LZTR1, nā maʻi neurological