He maʻi laha ʻole e make ai ma muli o ka hiamoe ʻole? E aʻo kākou e pili ana i kēia (Fatal Familial Insomnia)

ʻAʻole anei ʻoe e hiamoe i ka pō? Ke hoʻolei nei ʻoe a huli no nā hola ma hope o ka hiamoe ʻana? He pilikia maʻamau kēia i waena o ka hapa nui o mākou. Akā, ua manaʻo paha ʻoe he hōʻailona mua kēia o kahi maʻi genetic laha ʻole loa e hiki ai ke alakaʻi i ka make? Mai hopohopo, ʻaʻole wau e ʻōlelo nei he maʻi kou. No ka mea, he maʻi laha ʻole kēia ma ka honua. Akā he mea nui loa ia e makaʻala i kēia. No laila i kēia lā e kamaʻilio mākou e pili ana i kēia maʻi weliweli a laha ʻole loa.

He aha ka Fatal Familial Insomnia (FFI)?

ʻOiai ka huaʻōlelo "Insomnia" ma kona inoa, ʻaʻole ʻo FFI he maʻi hiamoe maoli. He maʻi genetic kakaikahi ka FFI i hoʻoili ʻia mai kēlā hanauna a i kēia hanauna ma o nā genes. I ka ʻōlelo maʻalahi, he ʻano ia i hoʻokumu ʻia e kahi protein i loko o ko kākou lolo i hoʻololi ʻia a hōʻino i ka lolo. He mea kakaikahi loa ka maʻi a ʻōlelo nā loea he 100 wale nō kānaka ma kahi o 30 mau ʻohana ma ka honua holoʻokoʻa i hōʻike ʻia he gene e hoʻoulu ai i kēia maʻi. No laila, inā ʻaʻole hiki iā ʻoe ke hiamoe, he liʻiliʻi loa ka manawa e pili ana iā FFI, ma kahi o hoʻokahi i ka miliona. Aia kekahi ʻano ʻokoʻa ʻole genetic o ka maʻi like, ʻo ia hoʻi, hiki koke mai ia me ke kumu ʻole. Ua kapa ʻia ʻo Sporadic Fatal insomnia (sFI). ʻAʻole maopopo i nā loea pehea e hana ai.

No ke aha i loaʻa ai kēia maʻi? He aha ke kumu?

ʻO ke kumu nui o ka FFI he mutation i loko o ka gene `PRPN` i loko o ko kākou kino. Hoʻomalu kēia gene i ka hana ʻana o kahi protein i kapa ʻia ʻo `PrP`. ʻOiai ʻaʻole i ʻike ʻia ka hana pololei o kēia protein, ʻo ka mutation i loko o ka gene ke kumu o ka hoʻokumu ʻia ʻana o kēia protein i kahi ʻano kūpono ʻole. A laila lilo ia i mea ʻawahia i ko kākou kino. Hoʻākoakoa mālie kēia mau protein ʻawahia a ʻano ʻē i loko o ko kākou ola ʻana ma kahi ʻāpana o ka lolo i kapa ʻia ʻo thalamus . ʻO ka thalamus kahi kikowaena e kāohi ana i nā mea nui he nui, e like me ko kākou hiamoe, ka makemake, a me ka mahana o ke kino. I ka hala ʻana o ka manawa, i ka wā e hōʻino ai kēia mau protein ʻawahia i ka thalamus, ʻo ka pōʻino ke kumu o nā hōʻailona o FFI e ʻike ʻia. Hoʻoili ʻia kēia hoʻololi genetic i nā hanauna ma ke ʻano autosomal dominant . ʻO ke ʻano kēia, pono ʻoe e hoʻoilina i hoʻokahi kope o ka gene mutated mai kou makuahine a i ʻole kou makuakāne e hoʻomohala i ka maʻi. Inā loaʻa i kekahi o kou mau mākua kēia hoʻololi gene, he 50% kou manawa e loaʻa ai iā ia.

He aha nā hōʻailona o kēia maʻi?

Hoʻomaka pinepine nā hōʻailona o ka FFI e ʻike ʻia ma waena o nā makahiki 40 a me 60. ʻOiai ke hoʻomaka nei lākou me ka maʻalahi loa, hiki i kēia mau hōʻailona ke lilo koke i mea koʻikoʻi. E nānā kākou i ke ʻano o kēia mau hōʻailona.ʻO ka hapa nui o kēia mau hōʻailona i hoʻokumu ʻia e ka nele o ka hiamoe a me ka hōʻino ʻana o ka lolo. ʻO ka mea kaumaha, make ka hapa nui o nā maʻi i nā hōʻeha puʻuwai a i ʻole nā ​​​​maʻi maʻi ʻē aʻe i loko o 6 a 36 mau mahina (3 mau makahiki) o ka hoʻomaka ʻana o nā hōʻailona.

Pehea e ʻike ai ke kauka i kēia maʻi?

Inā manaʻo kāu kauka he FFI kou, e hana lākou i kekahi mau hoʻokolohua e hōʻoia iā ia.

• Ke nīnau ʻana e pili ana i ka mōʻaukala olakino ʻohana: ʻOiai he maʻi hoʻoilina kēia, he mea nui loa ia e ʻike inā ua loaʻa i kekahi o ka ʻohana nā hōʻailona like.
• Hoʻokolokolo kino : Nānā pono ʻia nā hōʻailona.
• Ka hoʻāʻo ʻana i ka hoʻoilina : Hoʻāʻo ʻia kahi hāpana koko no kahi mutation i loko o ka gene `PRPN`.
• Haʻawina Hiamoe: Nānā ʻia nā ʻano hiamoe ma lalo o nā lako kūikawā ma kahi haukapila.
• Ka Hoʻāʻo ʻana i ka Wai o ka Spinal: Ka hoʻokolokolo ʻana i ka wai cerebrospinal i lawe ʻia mai ke kaula spinal .

I kekahi mau hihia, inā make kekahi ma mua o ka ʻike ʻia ʻana o ka maʻi, hiki ke hōʻoia ʻia ka FFI ma ka nānā ʻana i ka lolo i ka wā o ka autopsy.

He aha nā lāʻau lapaʻau no kēia?

ʻO ka mālama ʻana no FFI e kālele ana i ka mālama ʻana i nā hōʻailona a me ka hāʻawi ʻana i ka mea maʻi i ka nui o ka hōʻoluʻolu e like me ka hiki. No ka mea he maʻi laha ʻole loa ia, ʻaʻohe ʻano lapaʻau maʻamau. E hana pū kahi hui o nā loea olakino, me kahi neurologist a me kahi psychiatrist, e hoʻoholo i ka lāʻau kūpono no ka mea maʻi. ʻO ka maʻamau, ʻo ka mālama ʻana:

• Ka hoʻolako ʻana i nā huaora a me nā meaʻai hou aʻe.
• Ka hāʻawi ʻana i kahi papaʻai kaulike.
• Inā ʻoe e lawe ana i nā lāʻau lapaʻau ʻē aʻe e hoʻonui ana i kou mau hōʻailona, ​​​​e hoʻōki a hoʻololi paha iā lākou.
• ʻO ka hāʻawi ʻana i kekahi mau lāʻau hoʻomaha a i ʻole melatonin e kōkua i ka hiamoe, e like me ke kauoha a ke kauka.
• Ke hāʻawi nei i ke aʻo ʻana no ka hōʻoluʻolu noʻonoʻo.

I mea e pale ai i ka laha ʻana o ka maʻi i nā lālā ʻē aʻe o ka ʻohana i ka wā e hiki mai ana, e aʻo aku paha ke kauka i nā lālā āpau o ka ʻohana e hana i ka hoʻāʻo genetic.

Āhea wau e ʻike ai i ke kauka?

Ke ʻōlelo hou nei au, inā pilikia ʻoe i ka hiamoe ʻana, he haʻahaʻa loa ka manawa e lilo ai i FFI. No laila, mai hopohopo no ia mea me ke kumu ʻole. Eia nō naʻe, inā pilikia ʻoe i ka hiamoe ʻana no ka manawa lōʻihi, a inā he mau hōʻailona ʻē aʻe kāu e like me ka huikau a i ʻole ka paʻakikī ke hele pū me kou hiamoe ʻole, e ʻike koke i kāu kauka. No ka mea, ʻaʻole paha kēlā mau hōʻailona he FFI, akā he hōʻailona paha ia o kekahi maʻi hiki ke mālama ʻia. No laila, he mea nui loa ka loaʻa ʻana o kahi hōʻailona kūpono a me ka ʻimi ʻana i ka lāʻau e pono ai. ʻO ka Insomnia ʻohana make, FFI, insomnia, nā maʻi genetic, ka maʻi prion, nā pilikia hiamoe, nā maʻi lolo