Ka paʻakikī i ka hele wāwae a me ka nalowale o ke kaohi o ke kino: E kamaʻilio kākou e pili ana i ka Friedreich's Ataxia.

Ua manaʻo paha ʻoe e like me ka neʻe koke ʻana i kou hele ʻana, a i ʻole, e nalowale ana kou kaulike? A i ʻole he paʻakikī iā ʻoe ke ʻōlelo a i ʻole e hiki aku i kahi mea me kou mau lima? He mau hōʻailona paha kēia o kahi mea hohonu ma mua o ka luhi wale nō. I kēia lā, ke kamaʻilio nei mākou e pili ana i kahi maʻi laha ʻole i lohe ʻole ʻia e ka poʻe he nui ma ko mākou ʻāina, akā he mea nui loa ia e makaʻala. ʻO ia ka Friedreich 's Ataxia (FA).

He aha ka Friedreich's Ataxia (FA)?

I ka ʻōlelo maʻalahi, he maʻi hoʻoilina ia e hōʻino mālie ana i ko mākou ʻōnaehana nerve i ka hala ʻana o ka manawa, e hoʻoulu ai i nā neʻe kino kūpono ʻole, ka paʻakikī i ka hele ʻana, ke kamaʻilio ʻana, a me ke ale ʻana, a me ka ʻike maka a me ka lohe ʻana.

E noʻonoʻo i nā aʻalolo i loko o ko kākou kino e like me nā uea kelepona. Lawe kēia mau aʻalolo i nā leka mai ka lolo a i ke koena o ke kino. He mea nui kēia kamaʻilio ʻana no kākou e hoʻoneʻe i ko kākou mau lālā, e hele, a e kamaʻilio. I ka FA, nāwaliwali mālie kēia mau uea aʻalolo a hoʻōki i ka hana pono.

Hoʻopilikia pū kēia maʻi i ka ʻāpana o ko kākou lolo i kapa ʻia ʻo ka cerebellum . He mea nui loa kēia ʻāpana no ka kaohi ʻana i nā neʻe ʻana o ko kākou kino a me ke kaulike. Akā ʻo ka mea maikaʻi loa, ʻaʻole hoʻopilikia ka maʻi FA i kou hoʻomanaʻo, akamai, a i ʻole ka hiki ke noʻonoʻo. ʻO ia hoʻi, inā loaʻa iā ʻoe kēia maʻi, e mau ana kou hiki ke noʻonoʻo.

No ke aha lā kēia e hana nei?

He maʻi hoʻoilina piha kēia. ʻO ia hoʻi, holo ia i loko o nā ʻohana mai kēlā hanauna a i kēia hanauna. E like me kou ʻike, ua hoʻomalu ʻia nā mea āpau i loko o ko kākou kino e nā genes. ʻO ke kumu o kēia maʻi he kīnā i loko o kahi gene i kapa ʻia ʻo FXN. I mea e loaʻa ai i ke kanaka kēia maʻi, pono lākou e hoʻoilina i nā kope o kēia gene FXN hemahema mai ko lākou makuahine a me ko lākou makuakāne.

Ke kuhikuhi nei ka gene FXN i ke kino e hana i kahi protein kūikawā i kapa ʻia ʻo frataxin . He mea nui kēia protein no kā mākou mau cell, ʻoiai nā cell nerve a me nā cell muscle puʻuwai, e hana i ka ikehu. Ke loaʻa iā ʻoe ʻelua mau gene FXN kīnā ʻole, ʻaʻole hiki i ke kino ke hana i ka lawa o ka protein frataxin.

Ke nele kēia protein, ʻaʻole hiki i nā cell ke hana pono i ka ikehu, akā hoʻomaka nā mea ʻawahia, ʻoiai ka hao, e hōʻiliʻili i loko o nā cell. I ka hala ʻana o ka manawa, ʻo ia ka mea e hōʻino ai i ka ʻōnaehana nerve a hoʻoulu i nā hōʻailona o FA.

He aha nā hōʻailona nui o kēia maʻi?

Hoʻomaka pinepine nā hōʻailona ma waena o nā makahiki 5 a me 15. Eia nō naʻe, i kekahi manawa hiki ke ʻike mua ʻia nā hōʻailona a i ʻole ma hope loa, i ka wā makua.

ʻO nā hōʻailona mua ka paʻakikī i ke kū ʻana a me ka hele ʻana, a me ka nalowale o ke kaulike . Ua kapa ʻia kēia e nā kauka he gait ataxia . I ka hala ʻana o ka manawa, e piʻi mālie kēia mau hōʻailona, ​​a e ʻike ʻia paha nā hōʻailona hou.

Pehea ʻoe e ʻike pololei ai i kēia maʻi?

Ke ʻike ʻoe a i ʻole kāu keiki i ke kauka, e nānā mua ʻo ia i kou kino a nīnau iā ʻoe e pili ana i kāu mau hōʻailona. E nānā pono ʻo ia i kēia mau mea:

• He pilikia kaulike kāu?
• Ua nalowale anei kou manaʻo i kou mau hono?
• Ua nalowale anei nā reflexes?
• Aia kekahi mau hōʻailona ʻē aʻe e pili ana i ka ʻōnaehana nerve?

Inā kānalua ke kauka he FA paha kēia ma muli o kēia mau hōʻailona, ​​e kuhikuhi maoli ʻo ia iā ʻoe no kahi hoʻāʻo genetic. Ma o kēlā hoʻāʻo wale nō e hiki ai iā mākou ke hoʻoholo pono inā he kīnā i loko o ka gene FXN.

Eia kekahi, hiki ke hana ʻia kekahi mau hoʻokolohua ʻē aʻe e ʻike i ka nui o ka pōʻino i hana ʻia i ka puʻuwai a me nā aʻalolo:

• ʻO MRI a i ʻole CT scans e nānā i ka lolo a me ke kaula spinal.
• ʻO kahi hoʻāʻo electromyogram (EMG) e nānā i ka hana o nā ʻiʻo a me nā aʻalolo.
• Nānā nā haʻawina hoʻoili aʻalolo i ka wikiwiki o ka hele ʻana o nā leka ma o nā aʻalolo.
• E nānā i ka hana o ka puʻuwai me kahi electrocardiogram (EKG/ECG) a me/a i ʻole kahi echocardiogram (Echocardiogram) .
• Nā hoʻāʻo koko e nānā i nā pae kō koko a me nā pae huaora E.

He aha nā lāʻau lapaʻau no kēia?

ʻAʻohe lāʻau lapaʻau no ka FA i kēia manawa. Eia nō naʻe, nui nā mea hiki iā ʻoe ke hana e hoʻokele i nā hōʻailona a hoʻomaʻalahi i ke ola. I kēia manawa, ua ʻāpono ka FDA ma ʻAmelika Hui Pū ʻIa i kahi lāʻau i kapa ʻia ʻo Skyclarys (omaveloxolone) no ka maʻi.

E hana pū ana kāu kauka, physiotherapist, a me nā loea ʻē aʻe e kōkua iā ʻoe. Hiki i ka hoʻolālā lapaʻau ke komo pū me:

• ʻO ke ʻoki kino a i ʻole ka hoʻohana ʻana i nā kākoʻo kūikawā (nā pale) no ka ʻeha o ke kua a i ʻole nā ​​kīnā o ka wāwae.
• Hoʻoikaika kino e hoʻomau i ke kino e like me ka hiki.
• ʻŌlelo lapaʻau no nā pilikia o ka ʻōlelo ʻana a me ke ale ʻana.
• Nā lako e like me nā kāmaʻa kūikawā, ke koʻokoʻo, a i ʻole nā ​​​​noho huila e maʻalahi ai ka hele wāwae.
• Lāʻau lapaʻau no ka ʻeha inā pono.
• Ke mālama ʻana i nā maʻi e like me ka maʻi diabetes a me nā maʻi puʻuwai e hiki mai ana me kēia maʻi.

Ola kino noʻonoʻo a me ka loaʻa ʻana o ke kākoʻo

He mea maʻamau ke kaumaha a me ka haʻalulu ke ʻike ʻoe he maʻi laha ʻole kou e like me kēia. No laila he mea nui e noʻonoʻo i kou olakino noʻonoʻo e like me kou olakino kino.

E hoʻomanaʻo, he ʻano hiki ke mālama ʻia ke kaumaha.Hiki nō hoʻi ke lilo i mea hōʻoluʻolu nui ke kamaʻilio e pili ana i kou mau manaʻo me ka ʻohana a me nā hoaaloha. ʻO ke komo ʻana i kahi hui kākoʻo kahi e hiki ai iā ʻoe ke hālāwai me nā poʻe ʻē aʻe e noho nei me ka maʻi like me ʻoe hiki ke kōkua iā ʻoe e emi iho ka noho mehameha.