He mau kiko kou ma kou ʻili a he mau puʻupuʻu paha ma kou kino? He Neurofibromatosis Type 1 (NF1) paha kēia!

I kēia lā, e kamaʻilio mākou e pili ana i kahi maʻi paʻakikī iki, akā hiki ke lilo i mea nui i nā poʻe he nui. Kāhea mākou iā ia ʻo Neurofibromatosis Type 1, a i ʻole (NF1) no ka pōkole. ʻAʻole paha ʻoe i lohe i kēia inoa. Akā e kamaʻilio kākou e pili ana iā ia me ka maʻalahi, ma ke ʻano hiki iā ʻoe ke hoʻomaopopo.

He aha ka Neurofibromatosis ʻAno 1 (NF1)?

I ka ʻōlelo maʻalahi, ʻo (NF1) kahi kūlana e hoʻopilikia ai i kou ʻili a me ka ʻōnaehana nerve (ʻo ia hoʻi, kou lolo , ke kaula spinal , a me nā aʻalolo ʻē aʻe a pau). He kūlana kēia e hoʻololi iki ai i ke ʻano o ka ulu ʻana o kekahi mau cell i loko o ko mākou kino. Hoʻokumu kēia i nā puʻupuʻu non-cancerous (benign). Ua kapa ʻia kēia mau neurofibromas . Hoʻokumu ʻia kēia mau puʻupuʻu ma nā aʻalolo i loko o kou lolo, ke kaula spinal, a me ka ʻili. ʻO kekahi o nā hōʻailona nui i ʻike ʻia i ka poʻe me (NF1) ʻo ia ka nui o nā wahi café au lait ma ko lākou ʻili. Hiki i kēia kūlana ke hoʻopilikia i nā maka a me nā iwi. I kekahi manawa kapa pū nā kauka iā ia ʻo ka maʻi Von Recklinghausen, āu i lohe ai.

Pehea ka maʻamau o ka Neurofibromatosis Type 1 (NF1)?

ʻO kēia ke ʻano maʻamau o ka neurofibromatosis. ʻO ka ʻoiaʻiʻo, 96% o nā maʻi neurofibromatosis āpau i loaʻa iā NF1. Ma ka honua holoʻokoʻa, ua manaʻo ʻia he hoʻokahi i loko o 3,000 mau keiki i hānau ʻia i kēlā me kēia makahiki he NF1.

He aha nā hōʻailona o NF1?

ʻO ke kumu nui o nā hōʻailona o (NF1) ʻo ia ke kaomi ʻana o ke aʻalolo. E nānā inā kamaʻāina kēia mau hōʻailona iā ʻoe:

• ʻOi aku ma mua o ʻeono mau wahi cafe au lait: ʻIke ʻia kēia mau mea he mau wahi pālahalaha, ʻeleʻele māmā a ʻeleʻele paha ma ka ʻili, e like me nā hōʻailona hānau .
• ʻElua a ʻoi aku paha nā neurofibromas ma lalo o ka ʻili: Hiki i kēia mau puʻupuʻu ke ulu ma nā wahi āpau o ke kino. Hiki iā lākou ke liʻiliʻi e like me ka pī a ʻoi aku paha. Hiki iā lākou ke palupalu i ka pā a paʻakikī iki paha. I ka manawa pinepine, ʻoi aku ka ʻeleʻele o ka ʻili a puni kēia mau puʻupuʻu ma mua o kou kala ʻili maʻamau.
• He like ia me nā kiko liʻiliʻi (freckles) ma nā ʻāʻī, ka ʻūhā, a i kekahi manawa ma lalo o nā umauma.
• ʻO ke kūkulu ʻia ʻana o nā puʻupuʻu liʻiliʻi (Lisch nodules ) ma ka iris a i ʻole nā ​​​​pūpū o ke aʻalolo optic (optic glioma) a no laila ka hemahema o ka ʻike.
• Nā ʻano ʻē i ka ulu ʻana o ka iwi:Eia kekahi laʻana, aia paha nā mea e like me ka scoliosis a i ʻole nā ​​iwi wāwae kūlou, ke poʻo i ʻoi aku ka nui ma mua o ka maʻamau (macrocephaly), a me ke kino pōkole.
• Ka maʻi hoʻolohe-nele/ hyperactivity ( ADHD ) .
• ʻEha ma nā wahi i hoʻokumu ʻia ai nā puʻupuʻu, paʻakikī ke neʻe a puni, a me ka paʻakikī e hana i nā ʻōkana pili.

Hiki i kēia mau hōʻailona ke akahai loa no kekahi poʻe, a hiki ke hoʻopilikia nui i kekahi. Eia kekahi, ʻaʻole i loaʻa kēia mau hōʻailona a pau mai ka wā hānau. ʻIke ʻia lākou i nā manawa like ʻole o ke ola. No laila, ʻokoʻa ke ʻano o kona hoʻopilikia ʻana i kēlā me kēia kanaka.

He aha ke kumu o ka Neurofibromatosis Type 1 (NF1)?

ʻO ke kumu nui o NF1 he loli i kekahi o kā mākou mau genes, i kapa ʻia he mutation. Ua kapa ʻia kēia gene ʻo ka gene Neurofibromin 1. Ke haʻi aku nei kēia gene Neurofibromin 1 i ko mākou kino e hana i kahi protein i kapa ʻia ʻo neurofibromin. He mea nui loa kēia protein no ka mea e kāohi ana i ka nui o nā manawa e māhele ai nā cell a me ka nui o nā kope a lākou e hana ai. I ka pololei, he protein kēia e pale ai i ka hoʻokumu ʻana o nā tumors (tumor suppressor) .

No laila, ke loaʻa ʻole i ke kino nā kuhikuhi kūpono e hana i kēia protein neurofibromin, ʻaʻole māhele pono kekahi mau cell a hana hou. Akā, hana lākou i nā kope he nui ma mua o ka mea e pono ai. ʻO ia ka manawa e hoʻokumu ʻia ai nā puʻupuʻu. He puʻupuʻu mānoanoa o nā ʻiʻo i hana ʻia e ka nui o nā cell ʻano ʻē.

Hiki iā ʻoe ke hoʻoilina i kēia hoʻololi ʻana o ka gene mai kekahi o kou mau mākua. Ua kapa ʻia kēia he ʻano hoʻoilina autosomal dominant . Eia nō naʻe, hiki iā ʻoe ke loaʻa kēia hoʻololi ʻana o ka gene ʻoiai inā ʻaʻohe mea o kou ʻohana i loaʻa i ke ʻano. Ma kahi o ka hapalua o ka poʻe me NF1 e ulu koke ana. ʻO ke ʻano kēia, hana ʻia ka hoʻololi ʻana o ka gene ma ka manawa kūpono ʻole a ʻaʻole i hoʻoilina ʻia mai kekahi.

He aha nā pilikia e hiki mai ana o ka Neurofibromatosis Type 1 (NF1)?

(NF1) hiki ke hana i kekahi mau pilikia. Eia kekahi o lākou:

• E nalowale paha kou ʻike maka.
• Hiki ke loaʻa nā haki a i ʻole nā ​​​​​​kūlana ʻē i ka ulu ʻana o ka iwi (dysplasia).
• Hiki ke hōʻino ʻia nā aʻalolo.
• Hiki ke loaʻa ke koko kiʻekiʻe (hypertension).
• ʻOiai ma hope o ka mālama ʻana a me ka wehe ʻana, hiki i nā ʻōpū ke hoʻi hou mai.
• Hiki ke emi ka manaʻo ponoʻī.

ʻO ka mea nui loa, ʻo kekahi o nā ʻōpū e ulu ana ma NF1 he maʻi kanesa.Aia kahi hiki ke lilo i pilikia. No laila, he mea nui loa e makaʻala i kēia.

Pehea e ʻike ʻia ai ka NF1?

E nānā ke kauka iā ʻoe a hana i nā hoʻokolohua e pono ai e hoʻoholo inā he NF1 kou. E hana mua ʻo ia i kahi hoʻokolokolo kino, e nīnau e pili ana i kāu mau hōʻailona, ​​a e ʻike pehea lākou e hoʻopilikia ai iā ʻoe.

Eia kekahi, hiki iā ʻoe ke hana i nā hoʻokolohua e like me kēia:

• Nā hoʻokolohua kiʻi: No ka laʻana, MRI, X-ray, a i ʻole CT scan.
• Ka hoʻāʻo ʻana i ka hoʻoilina.
• He hoʻokolokolo maka.

Ua ʻike ʻia ka hapa nui o nā kānaka me NF1 i ka wā makua. ʻO kēia no ka mea ʻaʻole ʻike ʻia nā hōʻailona i ka manawa hoʻokahi, akā e ulu mālie i ka hala ʻana o ka manawa. No ka laʻana, loaʻa paha iā ʻoe nā kiko café au lait i ka wā hānau, a i ʻole e ʻike ʻia paha i loko o nā makahiki mua. Eia nō naʻe, hiki ke hala i 3-5 mau makahiki no ka ʻike ʻia ʻana o nā freckles ma nā armpits a me ka groin. ʻO Neurofibromas kahi ʻano puʻupuʻu i ʻike pinepine ʻia i ka wā makua. I ka manawa pinepine, ʻimi ka poʻe i ke kōkua lapaʻau no nā loli o ka ʻike.

Pehea e mālama ʻia ai ka Neurofibromatosis Type 1 (NF1)?

ʻAʻohe lāʻau lapaʻau no ke ʻano (NF1) i kēia manawa. Eia nō naʻe, hiki i ke kauka ke kōkua iā ʻoe e hoʻokele i kāu mau hōʻailona. ʻOkoʻa nā koho lapaʻau ma muli o ke ʻano o ka hopena o kāu mau hōʻailona iā ʻoe. Eia kekahi o nā lāʻau lapaʻau i loaʻa:

• ʻO ke ʻoki kino e wehe ai i ka puʻupuʻu.
• ʻO ka Chemotherapy kahi lāʻau lapaʻau no nā ʻōpū i lilo i maʻi kanesa.
• Nā mea e like me ke ʻoki kino a i ʻole nā ​​​​pale no nā maʻi ulu iwi.
• Nā lāʻau lapaʻau e kāohi i ka ulu ʻana o ka puʻupuʻu: No ka laʻana, kahi lāʻau i kapa ʻia ʻo selumetinib.
• Nā lāʻau lapaʻau e kāohi i nā hōʻailona ʻē aʻe: No ka laʻana, nā lāʻau lapaʻau no ADHD.

Inā loaʻa iā ʻoe ka NF1, he mea nui e ʻike i ke kauka ma ka liʻiliʻi hoʻokahi manawa i ka makahiki no ka nānā pono ʻana i ke olakino. Pono nō hoʻi ʻoe e hana i kahi hoʻokolokolo ophthalmologic i kēlā me kēia makahiki. Eia kekahi, he mea nui loa e nānā ʻia kou koko ma ka liʻiliʻi hoʻokahi manawa i ka makahiki e nānā ai i nā pilikia.

Pono anei ʻoe e noʻonoʻo e pili ana i ke olakino noʻonoʻo?

ʻAe, ʻoiaʻiʻo nō. He mea maʻamau ka hoʻopilikia ʻana o kēia ʻano ma kou naʻau. Loaʻa i ka nui o ka poʻe ka hōʻoluʻolu ma ke kamaʻilio ʻana me kahi loea olakino noʻonoʻo . A i ʻole, ʻo ke komo ʻana i kahi hui kākoʻo kahi e ʻākoakoa ai ka poʻe me nā kūlana like hiki ke kōkua nui. No ka mea, i kekahi manawa, ke ʻike ʻia kēia mau ulu a me nā kiko ma nā wahi i ʻike ʻia e nā poʻe ʻē aʻe, hiki iā ʻoe ke hopohopo e pili ana i kou helehelena. No laila, he mea maikaʻi loa ke kamaʻilio ʻana me ke kauka a i ʻole ke kākāʻōlelo olakino noʻonoʻo e pili ana i nā mea e like me kēia.

Aia kekahi mau hopena ʻaoʻao o ka lāʻau lapaʻau?

ʻAe, hiki ke ʻokoʻa nā hopena ʻaoʻao ma muli o ke ʻano o ka lāʻau lapaʻau. E wehewehe kāu kauka i kēia mau mea iā ʻoe ma mua o kou hoʻomaka ʻana i ka lāʻau lapaʻau. No ka laʻana, inā loaʻa iā ʻoe ke ʻoki kino, hiki iā ʻoe ke loaʻa ke kahe koko a me ka maʻi. Inā loaʻa iā ʻoe ka chemotherapy, hiki iā ʻoe ke loaʻa ka nalowale o ka lauoho a me ka luhi.

Hiki ke pale ʻia ka Neurofibromatosis Type 1 (NF1)?

ʻAʻohe ala i ʻike ʻia i kēia manawa e pale aku ai i ka NF1. Eia nō naʻe, inā ʻoe e hoʻolālā ana e hoʻomaka i kahi ʻohana, ʻo ia hoʻi, inā ʻoe e manaʻolana ana e loaʻa kahi keiki, hiki iā ʻoe ke kamaʻilio me ke kauka a nīnau e pili ana i ke aʻoaʻo genetic . Hiki i kēia ke hāʻawi iā ʻoe i kahi ʻike maikaʻi aʻe i nā manawa kūpono e loaʻa ai iā ʻoe kahi keiki me kahi maʻi genetic e like me NF1.

He aha ke kūlana o ke ola o kekahi me NF1?

ʻO ka maʻamau, inā ʻaʻole koʻikoʻi kou mau hōʻailona, ​​ʻaʻole pili pololei ka NF1 i kou ola. Noho ka hapa nui o ka poʻe i kahi ola maʻamau. Eia nō naʻe, inā loaʻa nā pilikia (ʻoiai he mea maʻamau ʻole ia), ʻoiai inā he nui loa nā puʻupuʻu e hiki ke wehe palekana ʻia e ke ʻoki ʻana, a inā lilo nā puʻupuʻu i maʻi kanesa, hiki iā ia ke hoʻopilikia i kou ola (prognosis).

He aha kāu e manaʻo ai inā loaʻa iā ʻoe kahi hōʻailona o NF1?

(NF1) he ʻano maʻi ia e hoʻopilikia ai i nā kānaka ma ke ʻano ʻokoʻa. ʻAʻole paha i loaʻa i kekahi poʻe nā hōʻailona koʻikoʻi e hoʻopilikia ai i nā hana o kēlā me kēia lā. Loaʻa paha i kekahi poʻe nā pilikia maka a i ʻole ka ʻeha e paʻakikī ai ka neʻe ʻana.

He mea kōkua ka kamaʻilio ʻana me kahi loea olakino noʻonoʻo i ka wā e hoʻopilikia ai kā lākou mau hōʻailona i ko lākou olakino noʻonoʻo a me ke ʻano o ko lākou noʻonoʻo ʻana i ko lākou kino. No ka mea, hiki ke ʻike ʻia kēia mau ulu ʻana, e like me nā ʻiole a me nā māka hānau, i kekahi manawa e nā poʻe ʻē aʻe, hiki iā ʻoe ke hilahila a hilahila paha i kou helehelena. Hiki i ke kauka ke kōkua iā ʻoe e hoʻokele i kēia mau manaʻo a me nā hōʻailona e hoʻoluhi nei iā ʻoe.

Āhea wau e ʻike ai i ke kauka?

Inā loaʻa iā ʻoe nā hōʻailona o NF1, ʻoi aku ma mua o ʻeono mau wahi café au lait, nā loli ʻili i wehewehe ʻole ʻia, a i ʻole nā ​​​​loli ʻike, e ʻike koke i ke kauka. Inā ke mālama ʻia nei ʻoe no NF1, e haʻi i kāu kauka inā piʻi aʻe a ʻoi aku paha ka ʻino o nā hōʻailona, ​​​​e like me ka ʻeha.

Eia kekahi, he mea nui e hana i kahi nānā olakino ma ka liʻiliʻi hoʻokahi manawa i ka makahiki . Hiki i kēia ke kōkua i ka hōʻoia ʻana e hana pono ana nā ʻāpana o kou kino i hoʻopilikia ʻia e NF1:

• Nā maka
• ʻŌnaehana nerve
• ʻIli
• ʻŌnaehana cardiovascular
• iwi kuamoʻo

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

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

• He aha kaʻu e manaʻo ai me ka loaʻa ʻana o kahi maʻi (NF1)?
• Hiki i kaʻu mau keiki e hiki mai ana ke hoʻoilina i kēia maʻi?
• He aha ka lāʻau lapaʻau āu e ʻōlelo nei? Aia kekahi mau hopena ʻaoʻao?
• Hiki ke ulu hou nā ʻōpū ma hope o ka wehe ʻana?
• ʻEhia pinepine e pono ai iaʻu e hoʻi hou mai no nā hālāwai hoʻomaʻamaʻa?

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

ʻO Neurofibromatosis Type 1 (NF1) ke ʻano maʻamau o ka neurofibromatosis. Hiki iā ia ke hoʻopilikia i nā ʻāpana he nui o kou kino, ʻoiai kou ʻili a me ka ʻōnaehana nerve. Hiki i kāu mau hōʻailona ke hoʻopilikia i kou ola o kēlā me kēia lā a me kou manaʻo e pili ana i kou kino. Akā , mai hopohopo. Hiki i kāu hui lapaʻau ke kōkua iā ʻoe e ʻike i ka lāʻau maikaʻi loa no kou kūlana. Inā hoʻopilikia kāu mau hōʻailona i kou manaʻo ponoʻī, hiki iā ʻoe ke ʻike he mea kōkua ke kamaʻilio me kahi kākāʻōlelo olakino noʻonoʻo . Inā ʻike mua ʻoe he NF1 kāu a ke hoʻolālā nei e hoʻomaka i kahi ʻohana, mai poina e kamaʻilio me kāu kauka e pili ana i ke aʻoaʻo genetic.

ʻAʻole ʻoe hoʻokahi, nui nā kānaka e kōkua iā ʻoe ma kēia huakaʻi.