Ke emi mālie nei kou ʻike maka? E aʻo kākou e pili ana i kēia (Cone-Rod Dystrophy) !

Ua ʻike anei ʻoe a i ʻole kekahi āu i ʻike ai, ʻoiai mai kou wā kamaliʻi mai, i kekahi mau loli i kou ʻike, e like me ka ʻike pōwehiwehi, a i ʻole ka ʻike i ka mālamalama? A i ʻole ua paʻakikī iā ʻoe ke hoʻokaʻawale i nā kala? I kekahi manawa hiki ke maʻalahi kēia mau mea. I kēia lā e kamaʻilio mākou e pili ana i kahi maʻi maka laha ʻole e pono ai ka nānā iki ʻana, akā ʻaʻole ʻike ka poʻe he nui. Ua kapa ʻia kēia ʻo (Cone-Rod Dystrophy) a i ʻole (CRD).

He aha ka Cone-Rod Dystrophy?

I ka ʻōlelo maʻalahi, ʻo ka (Cone-Rod Dystrophy) he maʻi ia e hoʻopilikia ana i ka ʻāpana o ka retina i loko o ko kākou mau maka. ʻO ka mea e hana ʻia ma kēia, ʻo ia ka nāwaliwali mālie o ko kākou ʻike maka, ʻo ia hoʻi, ma hope iki mai. I kekahi mau hihia, hiki i kēia ke alakaʻi i ka nalowale loa o ka ʻike maka a me ka makapō . He mea kaumaha kēia.

ʻO ke kumu nui o kēia nalowale ʻana o ka ʻike, ʻo ia ka hōʻino ʻia ʻana o nā ʻano ʻelua o nā cell i ʻike i ka mālamalama i loko o ko kākou retina, i kapa ʻia ʻo cones a me rods . I ka pololei, make mālie kēia mau cell. ʻO ka huaʻōlelo "Dystrophy" ma ka "Cone-Rod Dystrophy" ʻo ia hoʻi ka hōʻino mālie ʻana o kēia mau cell.

E noʻonoʻo, inā like ko kākou maka me ke kāmela, ʻo kēia mau pūnaewele cone "(Cones)" a me nā pūnaewele rod "(Rods)" ua like ia me nā kiko liʻiliʻi ma ka "(film)" o kēlā kāmela. ʻO lākou nā mea e hopu i ka mālamalama, ʻike i ke kala, hana i nā kiʻi, a hoʻouna iā lākou i ko kākou lolo.

• Nā Cone: ʻO kēia nā pūnaewele e kōkua iā mākou e ʻike i nā kala , a hāʻawi pū lākou i ka ʻike maka ʻoi a maopopo (ʻoi aku hoʻi i ka wā e nānā pololei ai mākou i mua) .
• Nā koʻokoʻo: Kōkua kēia iā mākou e ʻike i ka pōʻeleʻele a me ka ʻike peripheral, ʻo ia hoʻi, nā mea ʻaʻole pololei i mua o mākou.

I loko o CRD, ʻo nā pūnaewele cone ka mea mua e hōʻino ʻia, akā i kekahi manawa hiki ke hōʻino ʻia nā ʻano ʻelua o nā pūnaewele i ka manawa like.

ʻO kēia maʻi, i kapa ʻia ʻo (CRD), he mea kākaʻikahi loa ia , ʻo ia hoʻi, ʻaʻole ia he maʻi e pili ana i nā kānaka a pau. Eia kekahi, he mea hoʻoilina pinepine ia, ʻo ia hoʻi he mea ia i hoʻoili ʻia mai kēlā hanauna a i kēia hanauna. Hoʻomaka pinepine kēia maʻi i ka wā kamaliʻi a i ʻole ka wā makua .

Ua ʻike anei ʻoe i nā hōʻailona o kēia?

ʻOiai hiki ke ʻokoʻa iki nā hōʻailona o CRD mai kēlā kanaka a kēia kanaka, aia kekahi mau hōʻailona maʻamau e ʻike ʻia. Hoʻonui pinepine kēia mau mea i ka hala ʻana o ka manawa.

• Ka nāwaliwali ma ka ʻaoʻao waena o ka maka: ʻO kēia ka hōʻailona mua e ʻike ʻia. Hoʻomaka pinepine ia i ka wā kamaliʻi. I ka pololei, me he mea lā ua pōwehiwehi ka mea i ʻike pololei ʻia.
• Photophobia: Manaʻo o ka ʻike nui i ka mālamalama ʻōlinolino: He paʻakikī ke ʻike i ka wā e pio ai ka lā a i ʻole nā ​​​​kukui, me he mea lā e polū ana nā maka.
• Ka paʻakikī o ka hoʻokaʻawale ʻana i nā kala: Me ka hala ʻana o ka manawa, e emi ana ka ʻike ʻia o nā kala a hiki ke alakaʻi i ka makapō kala piha .
• Makapō pō (Nyctalopia): Lilo ka ʻike maka i mea ʻino loa i ka pō ma nā wahi i hoʻomālamalama ʻole ʻia.
• Ka nalowale o ka ʻike peripheral: ʻAʻole wale ka emi mālie ʻana o ka ʻike āu e ʻike pololei ai i mua, akā ʻo ka mea āu e ʻike ai ma waho o ka ʻaoʻao o kou maka e emi mālie ana hoʻi.
• Ka nalowale piha ʻana o ka ʻike (makapō): ʻO kēia ke kahua koʻikoʻi loa o ka maʻi.

ʻAʻole hiki koke mai kēia mau hōʻailona. Hoʻomohala mālie lākou. No laila i kekahi manawa, i ka wā mua, manaʻo paha ʻoe ʻaʻole ia he mea nui.

No ke aha e hana ʻia ai kēia? He aha nā kumu?

E like me kā mākou i ʻōlelo ai ma mua, ʻo ka (CRD) he maʻi hoʻoilina nui ia . ʻO ia hoʻi, ua hana ʻia e kekahi mau loli (nā mutations) e hana ʻia ana i loko o kā mākou (DNA) . E noʻonoʻo, ʻo (DNA) ke kiʻi no ko mākou kino. Inā he hewa liʻiliʻi i loko o kēlā kiʻi, hiki iā ia ke hana i nā kūlana e like me kēia.

Ua ʻike ʻia ma ka noiʻi aia ma ka liʻiliʻi he 28 mau hoʻololi genetic like ʻole e hiki ai ke hana i kēia (CRD). Aia kekahi mau ala e hiki ai iā mākou ke hoʻoilina i kēia mau hoʻololi:

• (Autosomal dominant): I kēia hihia, hiki ke loaʻa ka maʻi ʻoiai inā ua hoʻoilina ʻia ka gene kīnā mai hoʻokahi makua wale nō , ʻo ka makuahine a i ʻole ka makuakāne.
• (Autosomal recessive): Ma kēia ʻano hana, loaʻa ka maʻi inā loaʻa ka gene kīnā mai nā mākua ʻelua . Inā hele mai ia mai hoʻokahi makua wale nō, hiki i kēlā kanaka ke lilo i mea lawe i ka maʻi, akā ʻaʻole e hōʻike i nā hōʻailona.
• (X-linked): Hoʻokumu ʻia kēia e kahi gene i pili i ka chromosome X. Aia ka pilikia i ka makua nona ka gene kīnā.

ʻO nā hoʻololi ʻehā i hoʻokumu ʻia i ka Cone-Rod Dystrophy:

• (ABCA4)
• (CRX)
• (GUCY2D)
• (RPGR)

ʻOiai he paʻakikī iki kēia i ka ʻike lapaʻau, ʻo kēia mau genes ka mea e kōkua ai i nā pūnaewele cone a me nā koʻokoʻo i loko o ko kākou mau maka e hana pono. No laila, i ka wā e loaʻa ai ka pilikia me kēia mau genes, ua hoʻopilikia ʻia ka hana o kēlā mau pūnaewele.

Pehea ʻoe e ʻike pololei ai i kēia maʻi? (Diagnosis)

Inā loaʻa iā ʻoe a i ʻole kāu keiki kekahi o kēia mau hōʻailona, ​​​​pono ʻoe e ʻike i kahi loea mālama maka . Hiki iā ia ke haʻi pololei iā ʻoe inā he CRD kēia a i ʻole kekahi maʻi maka ʻē aʻe.

Hoʻohana ʻo ia i kekahi mau ʻano hana e ʻike ai i nā maʻi:

1. E nīnau e pili ana i kou mōʻaukala olakino a me nā hōʻailona: nā mea e like me nā loli i kou ʻike a inā paha ua loaʻa i kekahi o kou ʻohana nā pilikia like.

2. Hana ʻia kahi hoʻokolohua maka piha: Hiki ke komo pū kekahi mau hoʻokolohua.

• Hoʻāʻo ʻike maka:Ke ʻae nei i nā kānaka e heluhelu i nā leka a ʻike i ka mamao e hiki ai iā lākou ke ʻike.
• Hoʻāʻo ʻike kala: E nānā ana inā hiki iā ʻoe ke hoʻokaʻawale pololei i nā kala.
• Hoʻokolokolo kukui ʻoki: Ke nānā ʻana i loko o ka maka me kahi mea hoʻonui kūikawā.

ʻOiai he mea nui kēia mau hoʻokolohua, ʻo ka hoʻokolohua koʻikoʻi a kikoʻī loa e hōʻoia i ka Cone-Rod Dystrophy ʻo ia ka Electroretinography. He hoʻokolohua kūikawā iki kēia. Ana pololei ia i ka hana uila o ka retina. Inā loaʻa ka CRD, hiki i kēia hoʻokolohua ke ʻike i nā ʻano hana kikoʻī (a i ʻole ka nele o ka hana).

Eia kekahi, hiki i kāu kauka maka ke ʻōlelo aku i ka hoʻāʻo ʻana i ka genetic . ʻO kēia ke ʻike inā he mutation gene kou i ʻike ʻia e hoʻoulu ai i ka CRD. He mea nui loa kēia inā loaʻa i kekahi o kou ʻohana pili (makuahine, makuakāne, kaikaina, keiki) ka CRD, a inā paha he pilikia kou e hoʻoili i ka maʻi i kāu mau keiki.

He aha nā lāʻau lapaʻau no kēia? Hiki ke ho'ōla ʻia?

ʻAuē, i ka ʻoiaʻiʻo, ʻaʻohe lāʻau lapaʻau no kēia maʻi (Cone-Rod Dystrophy) i kēia manawa . ʻO kēia ka mea kaumaha loa.

Eia nō naʻe, ʻaʻohe pono e haʻalele loa i ka manaʻolana. ʻO ke ʻano o kēia manawa, ʻo ia ke hoʻolohi i ka holomua o ka maʻi a mālama i nā hōʻailona a me nā pilikia e kū mai ana. Hiki i kāu kauka maka ke kōkua me kēia. Hiki i kēia ke komo pū me:

• Ka pale ʻana i ke kukui: ʻO ka hoʻohana ʻana i nā aniani maka, nā aniani maka ʻōniʻoniʻo, a i ʻole nā ​​​​aniani hoʻopili e hiki ke kōkua i ka hōʻemi ʻana i ka pilikia o ka hōʻino ʻia ʻana o nā cell retinal mai ka ʻike ʻana i ka mālamalama.
• Hoʻoponopono ʻike: I nā wā mua o ka maʻi, hiki i nā aniani ke hāʻawi i kahi hōʻoluʻolu mai ka ʻike i emi iho.
• Nā mea kōkua ʻike haʻahaʻa: He mau mea hana kēia e kōkua ai i ka poʻe me ka ʻike haʻahaʻa e hana i nā hana o kēlā me kēia lā. Loaʻa iā lākou mai nā aniani hoʻonui maʻalahi a hiki i nā mea hana ʻenehana kiʻekiʻe e like me nā polokalamu kamepiula heluhelu pale.
• Hoʻoponopono hou ʻana i ka ʻike: He ʻano hoʻomaʻamaʻa kūikawā kēia e aʻo iā ʻoe pehea e hoʻoponopono ai a hana i nā hana o kēlā me kēia lā me ka nalowale o ka ʻike.
• Nā mea hoʻohui meaʻai: Aia kahi manaʻoʻiʻo e hiki i kekahi mau huaora a me nā minelala (micronutrients) ke hoʻolohi i ka holomua o CRD. Eia nō naʻe, pono e lawe ʻia kēia mau mea ma lalo o ke aʻo ʻana a ke kauka . E haʻi aku kāu kauka maka iā ʻoe i nā mea maikaʻi a me nā mea maikaʻi ʻole.
• Kākoʻo olakino noʻonoʻo:Hiki i ka nalowale ʻana o kou ʻike ke lilo i mea hopohopo a weliweli hoʻi . Hiki i ka poʻe he nui me CRD ke ʻike i nā hōʻailona e like me ka hopohopo a i ʻole ke kaumaha. No laila, ʻo ka ʻimi ʻana i ke aʻoaʻo a me ke kākoʻo noʻonoʻo hiki ke lilo i mea kōkua nui i ka hoʻoponopono ʻana i kēia mau manaʻo a me ke kūpaʻa ʻana iā lākou.

E loaʻa anei nā lāʻau lapaʻau hou i ka wā e hiki mai ana? (Noiʻi)

Ke noiʻi nei nā kānaka noiʻi inā hiki ke hoʻohana ʻia nā lāʻau lapaʻau gene e mālama i ka Cone-Rod Dystrophy. ʻO ia hoʻi, nā ʻano hana e hiki ai ke hoʻoponopono i nā genes kīnā a mākou i kamaʻilio ai.

Eia nō naʻe, aia nō kēia mau lāʻau lapaʻau i nā pae mua loa o ke kaʻina noiʻi . ʻO ke ʻano kēia , he mau makahiki hou aʻe ma mua o ka hiki iā mākou ke loaʻa i kēia mau lāʻau lapaʻau. Eia kekahi, e hoʻokuʻu wale ʻia lākou inā hōʻoia kēlā mau haʻawina he palekana a he pono kēia mau lāʻau lapaʻau.

No laila, ʻoiai he paʻakikī ke loaʻa nā manaʻolana kiʻekiʻe no kēia mau lāʻau lapaʻau i kēia manawa, he mea nui e hoʻomanaʻo e hiki i kēia mau mea ke hāʻawi i kahi hōʻoluʻolu i ka poʻe me CRD i ka wā e hiki mai ana .

He aha ka mea e ʻike ai kekahi kanaka me ka cone-rod dystrophy (CRD)?

Hoʻomaka pinepine nā hopena o CRD i ka wā kamaliʻi . Hiki i nā keiki me CRD ke loaʻa nā pilikia ʻike ma mua o ka piha ʻana o 10 mau makahiki. No laila, i kekahi manawa, ʻo nā kumu kula ka poʻe mua e ʻike i kahi loli i ka ʻike o ke keiki.

Hiki i ka hapa nui o ka poʻe me CRD ke nalowale ko lākou ʻike a hiki i ke kūlana o ka makapō kānāwai i ka piha ʻana o 20 mau makahiki. Eia nō naʻe, no kekahi poʻe, no ka mea, lohi ka holomua ʻana o ka maʻi a ʻaʻole paha i ʻoi aku ka koʻikoʻi o ka pōʻino, hiki ke hala a hiki i ko lākou mau makahiki 30 a 40 paha e hiki ai i kēia pae.

He aha ka manaʻo no kēia kūlana?

ʻAʻole ʻo (CRD) he maʻi e hoʻoweliweli i ke ola . ʻO ia hoʻi, ʻaʻole ia e pepehi kanaka. Eia naʻe, he maʻi ia e hoʻopilikia nui ai i ke ola a alakaʻi hope loa i ke kīnā .

Akā hiki iā ʻoe ke aʻo e noho me ka nalowale o ka ʻike , ʻoiai me ke kōkua o nā kauka, nā lawelawe kākoʻo, a me nā kumuwaiwai ʻē aʻe.

ʻO ka mea nui loa, ʻo ia ka hoʻomaopopo ʻana ʻaʻole ʻoe hoʻokahi. Mai makaʻu e noi i ke kōkua.

Aia kekahi ala e pale aku ai i kēia?

E like me kā mākou i ʻōlelo ai ma mua, ʻo ka Cone-Rod Dystrophy kahi maʻi i hoʻokumu nui ʻia e nā hoʻololi genetic . No laila, ma muli o ka ʻike o kēia manawa, ʻaʻohe ala e pale aku ai a hōʻemi paha i ka pilikia o ka hoʻomohala ʻana i ka CRD . Ke noiʻi nei nā mea noiʻi inā he mau kumu a i ʻole nā ​​​​​​mea ʻē aʻe e kōkua i kēia kūlana.

Inā loaʻa iaʻu ʻo CRD, pehea wau e mālama ai iaʻu iho?

Inā loaʻa iā ʻoe ʻo (CRD), he mea nui loa ia e ʻike pinepine i kāu loea maka no nā hoʻokolohua maka.A laila hiki iā ia ke nānā i nā loli i kou mau maka, hoʻoponopono i kāu lāʻau lapaʻau e like me ia, a hāʻawi iā ʻoe i ka ʻike hou.

Hiki i kāu kauka maka a me nā mea lawelawe olakino ʻē aʻe ke kōkua iā ʻoe e noho me CRD. Hiki iā lākou ke kōkua iā ʻoe e hoʻomaʻamaʻa iā ia a hoʻomākaukau no ka wā e hiki mai ana. Hiki iā lākou ke hoʻomaopopo iā ʻoe e pili ana i nā lāʻau lapaʻau hou a hāʻawi iā ʻoe i ka ʻike.

He aha kaʻu e nīnau aku ai i ke kauka/wahine?

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

• ʻEhia ka nui o ka emi ʻana o koʻu ʻike?
• Pehea e holomua ai kēia maʻi (CRD)? Hiki iā ʻoe ke noʻonoʻo i ka lōʻihi o ka manawa e lawe ai?
• Pono anei au a me koʻu ʻohana e hana i ka hoʻāʻo genetic e ʻike pono ai i ke kumu o ka hoʻololi ʻana o ka DNA?
• He aha kaʻu e hana ai i kēia manawa e lohi ai ka holomua o ka maʻi?
• Aia kekahi mau polokalamu a i ʻole nā ​​kumuwaiwai e hiki iaʻu ke hoʻohana e kōkua iaʻu e hoʻololi i nā loli o kēia manawa a hoʻomākaukau no nā loli e hiki mai ana?

Ke nalowale kou ʻike ma muli o ka Cone-Rod Dystrophy, hiki iā ʻoe ke manaʻo ua kaʻawale a mehameha hoʻi mai ke ao nei a mai nā poʻe ʻē aʻe. He mea maʻamau ka hopohopo a me ka hopohopo e pili ana i nā mea e loli ana i ka wā e hiki mai ana.

Eia naʻe, ʻaʻole kēia he kūlana āu e kū hoʻokahi ai . E hāʻawi kāu kauka maka, nā kauka ʻē aʻe, a me nā loea iā ʻoe i ka mālama, ke kākoʻo, ke alakaʻi, a me nā kumuwaiwai āu e pono ai. Mai makaʻu e noi iā lākou no ke kōkua. E kōkua lākou iā ʻoe e hoʻomaʻamaʻa a hoʻomanawanui i ka hopena o ka nalowale o ka ʻike.

ʻO ka mea hope loa, leka lawe i ka home:

He maʻi maka hoʻoweliweli ola ka Cone-Rod Dystrophy (CRD) kahi e hōʻino ʻia ai nā pūnaewele i loko o ko kākou mau maka i kapa ʻia ʻo cones a me rods, e hoʻoulu mālie ana i ka nalowale o ka ʻike. He mea hoʻoilina pinepine ia a hiki ke hoʻomaka i ka wā kamaliʻi.

ʻOiai ʻaʻohe lāʻau lapaʻau i kēia manawa, nui nā ala e hoʻokele ai i nā hōʻailona, ​​​​hoʻolohi i ka holomua o ka maʻi, a kōkua iā ʻoe e ola me ka nalowale o ka ʻike.

Inā loaʻa iā ʻoe a i ʻole kekahi āu i ʻike ai kēia mau hōʻailona, ​​e ʻike koke i kahi loea maka . He mea nui loa ka loaʻa ʻana o kahi hōʻailona pololei a me ke alakaʻi.

E hoʻomanaʻo, ʻaʻole ʻoe hoʻokahi. E kiʻi i ke kākoʻo a me ke kōkua āu e pono ai. He mea nui loa nō hoʻi ka noho maikaʻi ʻana!

ʻO ka dystrophy cone-rod, CRD, nalowale o ka ʻike, retina, nā pūnaewele cone, nā pūnaewele rod, nā maʻi genetic, nā maʻi maka