He aha ka Neurofibromatosis Type 2 (NF2)? E kamaʻilio maʻalahi kākou e pili ana.

He mau puʻupuʻu liʻiliʻi kou e hana ana ma kekahi mau wahi o kou kino? A i ʻole he nalowale iki kou lohe a manaʻo ʻoe he poniuniu? ʻOiai ke manaʻo nei mākou he mau mea maʻamau kēia, i kekahi manawa ma hope o kēia mau mea he ʻano genetic paha a mākou i lohe ʻole ai. I kēia lā e kamaʻilio mākou e pili ana i kekahi o ia ʻano maʻi. ʻO kēia maʻi ʻo Neurofibromatosis Type 2, a i ʻole ka inoa pōkole a mākou e ʻike nei ʻo NF2 . ʻOiai he mea paʻakikī iki kēia, e hoʻomaopopo maʻalahi kākou.

I ka ʻōlelo maʻalahi, he aha ka NF2?

He maʻi hoʻoilina ka NF2 e hoʻopilikia ana i kā mākou ʻōnaehana nerve. ʻO ka loli ʻana o kahi gene i loko o ko mākou kino ke kumu o ka hana ʻana o ko mākou kino i nā cell he nui loa. Hōʻiliʻili kēia mau cell keu a hana i nā tumors.

ʻO ka mea maikaʻi loa, ʻo ka hapa nui o kēia mau puʻupuʻu he benign/noncancerous . ʻO ke ʻano kēia, ʻaʻole lākou e laha i nā ʻāpana ʻē aʻe o ke kino. Eia nō naʻe, ma muli o kahi e hana ʻia ai kēia mau puʻupuʻu, hiki iā mākou ke loaʻa i nā pilikia like ʻole.

ʻO nā wahi maʻamau kahi e hiki ai ke hana ʻia kēia mau puʻupuʻu:

• Nā aʻalolo a puni ko mākou kino (nā aʻalolo peripheral).
• ʻO ka membrane ma waena o ka lolo a me ke poʻo (meninges).
• Iwi kuamoʻo.
• ʻO nā aʻalolo e hoʻopili ai i ka lolo a me ka pepeiao o loko, e kōkua ana i ka lohe a me ke kaulike.

ʻO NF2 kahi maʻi e pili ana i kahi hui o nā maʻi i kapa ʻia ʻo 'neurofibromatosis.' Hoʻopilikia nui kēia hui o nā maʻi i ko mākou ʻili a me ka ʻōnaehana nerve.

Pehea ka maʻamau o kēia maʻi?

ʻAʻole kēia he maʻi maʻamau loa. Wahi a nā helu helu, hoʻopilikia ka NF2 i hoʻokahi i loko o 33,000 mau keiki i hānau ʻia ma ka honua holoʻokoʻa. Ma kahi o 3% o nā maʻi neurofibromatosis āpau i ʻike ʻia he mau maʻi NF2.

He aha nā hōʻailona o NF2?

Hiki ke ʻokoʻa nā hōʻailona o NF2 mai kēlā kanaka a kēia kanaka. Aia lākou i kahi o nā puʻupuʻu i loko o kou kino a me ko lākou nui. No nā kānaka he nui, ʻo nā hōʻailona mua i hoʻokumu ʻia e nā puʻupuʻu i loko o nā aʻalolo e kaohi ana i ka lohe.

Hiki i ka papa ma lalo nei ke kōkua iā ʻoe e hoʻomaopopo pono i kēia mau hōʻailona.

Hoʻomaka pinepine nā hōʻailona e ʻike ʻia ma waena o ka wā kamaliʻi a me 30 mau makahiki. Eia nō naʻe, hiki i ka maʻi ke hoʻopilikia i nā kānaka o kēlā me kēia makahiki. ʻOi aku ka nui o ka poʻe mākua e ʻike mua i nā pilikia lohe. Eia nō naʻe, ʻoi aku ka nui o ka poʻe keiki e loaʻa i nā puʻupuʻu i loko o ka lolo a i ʻole ke kaula kuamoʻo. ʻO ka hoʻomaka ʻana o nā hōʻailona i ka wā kamaliʻi, ʻo ia hoʻi, ʻoi aku ka koʻikoʻi o ka maʻi.

He aha nā ʻano puʻupuʻu e ulu ana ma NF2?

Aia kekahi mau ʻano nui o nā nodules i ʻike ʻia ma NF2. E nānā maʻalahi kākou iā lākou.

No ke aha e ulu ai ʻo NF2? He aha ke kumu?

ʻO ke kumu nui o kēia, he loli genetic i loko o ka gene `NF2` i loko o ko kākou kino. Kōkua kēia gene i ka hana ʻana i kahi protein i kapa ʻia ʻo `merlin`. ʻO ka hana nui o kēia protein, ʻo ia ke kāohi i ka hoʻokumu ʻia ʻana o nā tumors (tumor-suppressor).

No laila, i ka wā e loli ai ka gene `NF2`, ʻaʻole i hana pono ʻia ka protein `merlin`. A laila hoʻomaka kekahi mau cell i loko o ko mākou kino e māhele a hoʻonui me ke kāohi ʻole. Penei ke ʻano o ka hōʻiliʻili ʻana o nā cell keu a hana i nā puʻupuʻu.

Hiki iā mākou ke loaʻa i kēia ʻano loli genetic ma nā ʻano ʻelua:

1. Hoʻoilina: Inā loaʻa i kekahi o nā mākua kēia hoʻololi ʻana o ka gene, aia ma kahi o 50% ka manawa e hoʻoilina ai ke keiki iā ia (ʻano 'autosomal dominant').

2. Ma ke ʻano kūpono ʻole: I kekahi manawa, ʻoiai inā ʻaʻohe mea o ka ʻohana i loaʻa i ka maʻi, hiki ke hana ʻia kahi hoʻololi genetic hou ma ke ʻano kūpono ʻole i ka wā o ka hāpai ʻana. Penei ke ʻano o ka ulu ʻana o ka maʻi i ka hapa nui o nā maʻi NF2.

ʻO wai ka mea i pilikia? He aha nā pilikia e hiki mai ana?

Inā loaʻa i kekahi o kou ʻohana, ʻoiai kou mau mākua, ka NF2, aia nō hoʻi ʻoe i ka pilikia o ka loaʻa ʻana o ka maʻi.

Aia kekahi mau pilikia e hiki ke hana ma muli o NF2.

• Ka nalowale piha ʻana o ka lohe.
• Ka nalowale piha ʻana o ka ʻike.
• Ka pōʻino o ke aʻalolo.
• Hōʻiliʻili ʻana o ka wai i loko o ka lolo.

I ka hapanui ʻole, hiki i kekahi mau nodules NF2 ke lilo i maʻi ʻaʻai, no laila he mea nui nā hoʻokolohua lapaʻau maʻamau.

Pehea e ʻike ai i kēia maʻi?

E nānā ke kauka iā ʻoe a hana i nā hoʻokolohua like ʻole e hōʻoia inā loaʻa iā ʻoe kēia maʻi a ʻaʻole paha. ʻO ka mea mua, e hana lākou i kahi hoʻokolokolo kino. E nānā lākou i nā mea e like me nā loli i kou ʻili a me ke kaulike o kou kino. A laila e nīnau lākou e pili ana i kāu mau hōʻailona a me ka mōʻaukala olakino ʻohana.

Eia kekahi, hiki ke hana ʻia nā hoʻokolohua aʻe:

• MRI scan: Hiki i kēia ke ʻike maopopo inā he mau puʻupuʻu i loko o kou ʻōnaehana nerve a me ka ʻili.
• Hoʻāʻo lohe: E nānā i kou pae lohe.
• Hoʻokolokolo maka: E nānā no ka cataracts a i ʻole nā ​​​​pilikia maka ʻē aʻe.
• Hoʻāʻo hoʻoilina: E nānā no kahi mutation i loko o ka gene `NF2`.

He aha nā lāʻau lapaʻau no NF2?

ʻO ka ʻoiaʻiʻo, ʻaʻohe lāʻau lapaʻau no NF2 i kēia manawa. Eia nō naʻe, ua holomua nui ka ʻike ʻana a me ka mālama ʻana i ka maʻi. Kōkua kēia mau lāʻau lapaʻau i ka kaohi ʻana i nā hōʻailona a kōkua iā ʻoe e ola maʻamau i ke ola maʻamau. ʻOkoʻa ka lāʻau lapaʻau mai kēlā kanaka a kēia kanaka. Na kāu kauka e hoʻoholo i ka lāʻau lapaʻau maikaʻi loa iā ʻoe.

I kekahi manawa, inā ʻaʻole e hoʻopilikia nui ana kou mau puʻupuʻu iā ʻoe, hiki i kāu kauka ke hoʻoholo e nānā iā lākou me ka ʻole o ka mālama ʻana iā lākou. Eia nō naʻe, he mea nui e loaʻa kahi hoʻokolohua kino, nā scans, a me nā hoʻokolohua lohe a me ka ʻike ma ka liʻiliʻi i hoʻokahi manawa i ka makahiki e nānā i ka holomua o ka maʻi.

ʻO ka hui lapaʻau e mālama nei i kēia

No ka mea, he maʻi ka NF2 e hoʻopilikia ana i nā ʻōnaehana kino he nui, ua mālama ʻia e kahi hui o nā kauka me nā ʻano loea like ʻole. ʻO ka maʻamau, aia i loko o kēia hui:

• Nā Neuro-oncologists: Nā kauka i loea i nā maʻi ʻaʻai a me nā puʻupuʻu o ka ʻōnaehana nerve.
• Nā Neurosurgeons: Nā kauka lapaʻau i loea i ka ʻōnaehana nerve.
• Nā kauka ʻoki ENT: Nā kauka pepeiao, ihu, a me ka ʻāʻī.
• Nā loea lohe: Nā loea i ka lohe.
• Nā kākā'ōlelo hoʻoilina: Nā loea e aʻo aku i nā maʻi hoʻoilina.

Aia kekahi mau hopena ʻaoʻao o ka lāʻau lapaʻau?

ʻAe, e like me nā lāʻau lapaʻau āpau, hiki i kēia mau lāʻau lapaʻau ke loaʻa nā hopena ʻaoʻao. ʻOkoʻa ia ma muli o ke ʻano o ka lāʻau lapaʻau.

Aia kekahi mau pilikia i loko o ke ʻoki kino e wehe i nā puʻupuʻu. No ka mea aia kēia mau puʻupuʻu ma nā wahi koʻikoʻi loa e like me ka lolo a me ke kaula kuamoʻo, aia nā pilikia e like me ke kahe ʻana o ke koko, ka maʻi, a me ka hōʻino ʻana o nā aʻalolo. Akā e hana kāu hui ʻoki kino i kā lākou mea maikaʻi loa e hōʻemi i kēia mau pilikia.

I loko o ka chemotherapy a me ka radiation therapy,

• Ka paʻa ʻana o ka ʻōpū
• Ka maʻi pākī
• Luhi
• Pohō lauoho
• Makemake nui
• Ka luaʻi a me ka luaʻi

Nā hopena ʻaoʻao e like me: Ma mua o ka hoʻomaka ʻana i ka lāʻau lapaʻau, e kamaʻilio me kāu kauka e pili ana i nā hopena ʻaoʻao hiki.

He aha kāu e ʻōlelo ai e pili ana i ke ola me kēia maʻi?

ʻO ka hopena o ka NF2 i ke ola o ke kanaka ma muli o nā kumu he nui. ʻO ka nui o nā ʻeha, ko lākou wahi, a me ka makahiki i ka wā i ʻike mua ʻia ai kekahi o nā mea nui loa. I kekahi manawa ʻaʻole paha e hōʻike nā ʻeha i kekahi mau hōʻailona. I kekahi manawa, hiki ke koʻikoʻi loa nā hōʻailona.

ʻO ka mea maikaʻi loa, ʻo ia ka ʻike mua ʻana i ka maʻi a hoʻomaka i ka lāʻau lapaʻau ma mua o ka ulu ʻana o nā pilikia . A laila ʻoi aku ka maikaʻi o ka nānā ʻana. Ma muli o ke ʻano o kāu mau hōʻailona e pili ai iā ʻoe, hiki i kāu kauka ke hāʻawi iā ʻoe i kahi wānana pololei.

Hiki ke pale ʻia ka NF2?

ʻAʻole. ʻOiai he maʻi hoʻoilina ʻo NF2, ʻaʻole hiki ke pale ʻia. Eia nō naʻe, inā he moʻolelo ʻohana o ke ʻano a ke hoʻolālā nei ʻoe e hoʻomaka i kahi ʻohana, ua ʻōlelo ʻia ke aʻo ʻana i ka hoʻoilina ma mua o ka loaʻa ʻana o kahi keiki.He mea nui loa ia e nānā i kēia mau mea: I hiki iā ʻoe ke hoʻomaopopo maikaʻi i ka pilikia o ka loaʻa ʻana o kēia maʻi i kāu keiki.