He paʻakikī anei ka hele ʻana o kāu keiki? E aʻo kākou e pili ana i ka Friedreich's Ataxia!

Ke wili iki nei kāu keiki i ka wā e hele ana a e holo ana paha? Ua manaʻo anei ʻoe he paʻakikī ke mālama i ke kaulike? A i ʻole he mea maʻamau anei ke makaʻu a hopohopo nui ke ʻike ʻoe i kēlā mau hōʻailona i loko o kahi keiki liʻiliʻi? I kēia lā e kamaʻilio mākou e pili ana i kahi kūlana genetic kakaʻikahi akā koʻikoʻi loa e pono ʻoe e makaʻala i ia mau manawa. Ua kapa ʻia kēia ʻo Friedreich's ataxia, a i ʻole `(FA)` a i ʻole `(FRDA)` no ka pōkole.

He aha ka Ataxia a Friedreich?

I ka ʻōlelo maʻalahi, ʻo Friedreich's Ataxia kahi maʻi genetic i hoʻoili ʻia mai kēlā hanauna a i kēia hanauna. ʻO kēia ke kumu o ka hōʻino mālie ʻana o kā mākou ʻōnaehana nerve, e hoʻopilikia ana i ka neʻe ʻana o ko mākou kino. ʻOi aku ka pololei, emi ka hiki ke kāohi i ko mākou mau ʻiʻo. ʻO kēia ka mea a mākou e kapa nei he "Ataxia." ʻOi aku ka ʻino o kēia maʻi i ka hala ʻana o ka manawa.

ʻO ka hapa nui o ka manawa, hoʻomaka kēia mau hōʻailona i ka wā ʻōpiopio. ʻO ia hoʻi, i ka wā kamaliʻi. Akā, ʻaʻole kēia he mea e hoʻopilikia wale i ka ʻōnaehana nerve. Hiki iā ia ke hoʻopilikia i nā wahi e like me kou ʻōnaehana iwi, ka puʻuwai, a me ka pancreas. Akā, ʻo ka nūhou maikaʻi, ʻaʻole ia e hoʻopilikia i kou mau hiki ke noʻonoʻo, ʻo ia hoʻi, kou mau hiki noʻonoʻo (Cognitive Functions).

ʻO ka ataxia a Friedreich kekahi o nā ʻano maʻamau o ka ataxia hoʻoilina, akā he mea kakaikahi loa ia. Ma ʻAmelika Hui Pū ʻIa, hoʻopilikia ia ma kahi o hoʻokahi i kēlā me kēia 50,000 poʻe. Ma ka honua holoʻokoʻa, hoʻopilikia ia ma kahi o hoʻokahi i kēlā me kēia 40,000 poʻe. Ua ʻike mua ʻia a wehewehe ʻia ka maʻi i ka makahiki 1863 e kekahi kauka i kapa ʻia ʻo Nicholas Friedreich. ʻO ia ke kumu i kapa ʻia ai ma muli ona.

He mea maʻamau ka makaʻu i ka wā e hoʻomaka ai kāu keiki e pilikia i ka hele wāwae a i ʻole e nalowale ana ko lākou kaulike. Ke noʻonoʻo nei paha ʻoe, "Pehea ka lōʻihi o kēia? Pehea e pili ai kēia i ke ola o kaʻu keiki?" ʻO ka mea maikaʻi loa e hana ai, ʻo ia ke ʻike i ke kauka loea i kēia mau kūlana. Ma kēlā ala, hiki iā ʻoe ke loaʻa nā pane i kāu mau nīnau a loaʻa ke kākoʻo āu e pono ai ma kēia huakaʻi.

Aia kekahi mau ʻano like ʻole o ka ataxia a Friedreich (FA)?

ʻAe, ʻike pinepine ʻia ka ataxia "maʻamau" a Friedreich ma mua o ka piha ʻana o 25 mau makahiki. Eia nō naʻe, aia ʻelua mau ʻano atypical ʻē aʻe. ʻO kēia mau mea no kahi 15% o nā hihia FA āpau:

• ʻO ka ataxia hope loa o Friedreich (LOFA): I kēia ʻano, ʻike ʻia nā hōʻailona ma hope o 25 mau makahiki.
• ʻO ka ataxia Friedreich's i hoʻomaka hope loa (VLOFA): Maanei, hoʻomaka nā hōʻailona ma hope o 40 mau makahiki.

ʻOi aku ka ʻino o kēia mau ʻano ʻelua, ʻo `(LOFA)` a me `(VLOFA)`, ma mua o ka `(FA)` maʻamau.

He aha nā hōʻailona o kēia maʻi?

Hoʻomaka pinepine nā hōʻailona o ka ataxia a Friedreich ma waena o nā makahiki 5 a me 15. Eia nō naʻe, hiki i kekahi poʻe ke ʻike i nā hōʻailona i ka wā ʻelua o ko lākou mau makahiki, a ʻo kekahi poʻe a hiki i ka 50 mau makahiki.

Nā hōʻailona mua i ʻike ʻia

ʻO nā hōʻailona neurological mua e ʻike ʻia, ʻo ia ka paʻakikī i ke kū ʻana, ka hele ʻana, a me nā pilikia kaulike (i kapa ʻia ʻo Gait Ataxia). I ka hala ʻana o ka manawa, e ʻoi aku ka ʻino o kēia mau hōʻailona, ​​a e ʻike ʻia paha nā hōʻailona hou.

ʻO nā hōʻailona nui e pili ana i ka ʻōnaehana nerve o `(FA)`:

• Ka nāwaliwali o nā ʻiʻo.
• Ka nalowale o ke kaulike a me ka hoʻonohonoho ʻana (Ataxia).
• ʻO ka nalowale ʻana o ka ʻike o ka hoʻopā (ua kapa ʻia kēia ʻo `(Peripheral Neuropathy)`).
• Ka nāwaliwali o nā reflexes (Hyporeflexia).

Hiki iā ʻoe ke ʻike i kēia mau hiʻohiʻona ma aneʻi:

• Ka paʻakikī ke kū, ka hele ʻana, a me ka holo ʻana.
• ʻO Chorea ka haʻalulu a me ka haʻalulu ʻana o nā lālā me ka makemake ʻole.
• Ka nalowale ʻana o ka ʻike e hoʻomaka ana ma nā wāwae a laha i nā lima a me ka ʻōpū.
• Ka luhi mau.
• I ka wā e ʻōlelo ai, lilo nā huaʻōlelo i mea hūpō a lohi ka ʻōlelo ʻana (Dysarthria).
• Ka paʻakikī i ka ale ʻana i ka meaʻai (Dysphagia).
• ʻO ka spasticity kahi manaʻo o ka ʻoʻoleʻa o nā ʻiʻo.
• Ka nalowale ʻana o ka ʻike i ke kūlana o ke kino ponoʻī (Loss of `(Proprioception)`).
• Ka nalowale o ka lohe.
• Ka Nalowale ʻana o ka ʻIke.
• ʻO ka scoliosis a/a i ʻole nā ​​​​​​kīnā wāwae. Eia kekahi laʻana, nā wāwae e huli ana i loko, nā ʻāʻī kiʻekiʻe, a me nā wāwae pōkole (Pes Cavus).

E noʻonoʻo, aia kekahi keiki 8 makahiki i kapa ʻia ʻo Sadun. He mea holo maikaʻi ʻo ia a he hoa pāʻani. Akā no kekahi manawa i kēia manawa, ua hele wāwae ʻo ia me he mea lā ʻaʻole hiki iā ia ke mālama i kona kaulike. ʻOiai i ka pāʻani ʻana ma ke kula, hāʻule ʻo ia i ka wā e holo ai me kāna mau hoaaloha. I ka wā mua, ua manaʻo kona mau mākua he mea liʻiliʻi ia. Akā i ka wā i hōʻike ai lākou iā ia i ke kauka i ʻike ai lākou e pili ana i kēia `(FA)`.

Nā pilikia ʻē aʻe e hiki ke hana ma muli o ka ataxia a Friedreich (FA)

Ma kahi o 75% o ka poʻe me ka FA e loaʻa paha i ka maʻi puʻuwai. ʻO nā mea maʻamau o kēia mau mea:

Nā hopena ma ka puʻuwai

• ʻO ka Neuropathy Autonomic Cardiac.
• ʻO ka cardiomyopathy hypertrophic.
• Nā ʻano like ʻole o ka puʻuwai (Arrhythmia).

Eia kekahi, ʻo nā pilikia puʻuwai ʻē aʻe e hiki ke hana ma muli o ka `(FA)`:

• ʻO ka maʻi puʻuwai.
• Ka ʻeha o ka ʻiʻo o ka puʻuwai (Myocardial Fibrosis).
• Ka hoʻonui ʻia ʻana o ka puʻuwai (Cardiomegaly).
• Ka hāʻule ʻana o ka puʻuwai paʻa.
• Ka wikiwiki o ka puʻuwai (Tachycardia).
• ʻO ka fibrillation atrial.
• Poloka Puʻuwai.

Ka pilikia o ka hoʻomohala ʻana i ka maʻi diabetes

Hiki i ka FA ke hōʻino i nā pūnaewele i loko o kou pancreas e hana ana i ka hormone insulin. He mea nui ka insulin no ka kaohi ʻana i nā pae glucose koko. No laila, i ka wā ʻaʻole lawa ka insulin, piʻi aʻe nā pae kō koko, ka mea e hoʻoulu ai i ka hyperglycemia. Hiki i kēia ke alakaʻi i ka maʻi diabetes. Ma kahi o 30% o ka poʻe me ka FA e loaʻa i ka maʻi diabetes.

He aha ke kumu o kēia? He mana hoʻoilina anei ia?

ʻAe, he maʻi genetic piha ka ataxia a Friedreich. Hoʻokumu ʻia ia e kahi loli, a i ʻole mutation, i loko o kahi gene i kapa ʻia ʻo "FXN". Loaʻa i kēia gene ke code no ka hana ʻana i kahi protein koʻikoʻi loa i loko o ko mākou kino, ʻo "Frataxin" .

ʻO Frataxin kahi protein e hana ana i loko o ka mitochondria.

He protein ʻo Frataxin i loaʻa i loko o ka mitochondria , nā ʻāpana hana ikehu o kā mākou mau cell. ʻOiai ʻaʻole maopopo loa i nā kānaka ʻepekema pehea e hana ai, ua ʻike lākou he mea nui ka frataxin no ka hana maʻamau o ka mitochondria. ʻO ka mutation gene e hoʻoulu ai i ka frataxin (FA) e ālai loa i ka hana ʻana o ka protein frataxin.

Ke ʻole lawa ka frataxin iā kākou, ʻaʻole hiki i kekahi o nā ʻāpana o ko kākou kino ke hana pono i ka ikehu. Eia kekahi, hoʻomaka nā huahana ʻawahia e hōʻiliʻili. Ua kapa ʻia kēia he oxidative stress . Hoʻopōʻino kēia i kā kākou mau ʻāpana.

Ua hoʻopilikia nui ʻia nā pūnaewele ma nā wahi aʻe e ka `(FA)`:

• Nā aʻalolo peripheral.
• ʻO ke kaula kuamoʻo.
• ʻO ka lolo, ʻoiai hoʻi ka cerebellum.
• ʻIʻo puʻuwai.

He ʻano hoʻoilina Autosomal Recessive kēia.

ʻIke wale ʻia ka ataxia o Friedreich inā loaʻa iā ʻoe ʻelua kope i hoʻololi ʻia o ka gene (FXN), mai kou makuahine a me kou makuakāne. Kāhea nā kauka i kēia he ʻano hoʻoilina autosomal recessive .

ʻO ka maʻamau, loaʻa i nā mākua ʻelua o ke kanaka me kēia maʻi hoʻokahi kope o ka gene mutated (ʻo ia hoʻi, he mau mea lawe lākou). Akā, ʻaʻole lākou e hōʻike pinepine i nā hōʻailona. E noʻonoʻo, inā he mau mea lawe nā mākua ʻelua, i ka wā e loaʻa ai iā lākou kahi keiki:

• Aia he 25% ka manawa e loaʻa ai i ke keiki ka `(FA)` (inā ua hoʻoilina ʻia nā genes mutant ʻelua).
• Aia he 50% ka manawa e lilo ai ke keiki i mea lawe (inā hoʻoilina ʻia kekahi gene mutated).
• Aia he 25% ka manawa e olakino ai ke keiki me ka ʻole o ka hoʻoilina ʻana i kekahi mau genes i hoʻololi ʻia.

Pehea ʻoe e ʻike pono ai i kēia? (Diagnosis)

ʻO ka mea mua, e nīnau ke kauka o kāu keiki e pili ana i nā hōʻailona a me ka mōʻaukala olakino ʻohana. A laila e hana lākou i kahi hoʻokolohua kino piha a me kahi hoʻokolohua neurological.

ʻO ka mea aʻe, e paipai paha ke kauka i kekahi mau hoʻokolohua like ʻole.ʻO ka hoʻāʻo ʻana i ka genetic ka hoʻāʻo nui e hiki ai ke hōʻoia i ka ataxia o Friedreich. Eia kekahi, hiki ke hana ʻia nā hoʻāʻo aʻe e kōkua i ka hōʻoia ʻana a/a i ʻole e nānā i nā wahi o ke kino i hoʻopilikia ʻia e (FA):

• MRI a i ʻole CT scan: Hiki i kēia ke kiʻi i nā kiʻi o kou lolo a me ke kaula iwi kuamoʻo. Hiki i kēia ke kōkua i kāu kauka e kāpae i nā kūlana neurological ʻē aʻe.
• ʻO ka Electromyogram (EMG) a me nā Haʻawina Hoʻoili Aʻalolo: Loiloi kēia mau hoʻokolohua i ka hana ʻana o kou mau ʻiʻo a me nā aʻalolo.
• Electrocardiogram (ECG/EKG): Hōʻike kēia i ka hana uila o kou puʻuwai, ʻo ia hoʻi, ke ʻano o ka puʻuwai.
• Echocardiogram: Hāʻawi kēia i nā kiʻi o nā neʻe ʻana o kou puʻuwai.
• Nā hoʻāʻo koko: Hiki ke hana ʻia kekahi mau hoʻāʻo koko e nānā i nā mea e like me ke kō koko a me nā pae huaora E.

He aha nā lāʻau lapaʻau no ka ataxia a Friedreich (FA)?

He nūhou maikaʻi maoli kēia! I ka makahiki 2023, ua ʻāpono ka US Food and Drug Administration (FDA) i ka lāʻau lapaʻau mua no ka ataxia a Friedreich. ʻO Omaveloxolone (SKYCLARYS™) kona inoa. Hiki ke hoʻohana ʻia i nā poʻe he 16 makahiki a ʻoi. Ua hōʻike ʻia nā noiʻi e hiki i kēia lāʻau ke hoʻomaikaʻi i ka hana aʻalolo a me ke kūlana o "Ataxia" i kekahi ʻano. Ke hana ʻia nei nā noiʻi hou aku e pili ana i nā hopena lōʻihi o kēia lāʻau.

Eia nō naʻe, ʻaʻole ʻo Omaveloxolone kahi lāʻau lapaʻau no ka FA. Ma waho aʻe o kēia lāʻau lapaʻau, ʻo ka pahuhopu nui o ka mālama ʻana, ʻo ia ke kāohi i nā hōʻailona a me nā pilikia o ka FA a kōkua iā ʻoe e ola maikaʻi loa. Hiki i kēlā mau lāʻau lapaʻau ke komo pū me:

• Hoʻōla Kino: Mālama i ka hana ʻiʻo no ka manawa lōʻihi, hoʻomaikaʻi i ka hoʻonohonoho ʻana, ke kaulike, a me ka ikaika.
• Lapaʻau ʻŌlelo: Hoʻomaikaʻi i ka ʻōlelo a me ke ale ʻana ma ke hoʻomaʻamaʻa hou ʻana i nā ʻiʻo o ke alelo a me ka maka.
• Nā pale lima a i ʻole ke ʻoki kino no nā pilikia e pili ana i ka iwi e like me nā kīnā o ka wāwae a me ka scoliosis.
• Inā loaʻa iā ʻoe nā maʻi puʻuwai, e lawe i ka lāʻau lapaʻau no lākou.
• Inā loaʻa iā ʻoe ka maʻi diabetes, e lawe i ka lāʻau lapaʻau no ia.
• Nā lāʻau lapaʻau hoʻokele ʻeha.
• Nā lāʻau antibiotic e pale ai a mālama paha i nā maʻi.
• Nā mea hana e kōkua ai i ka hele wāwae, e like me nā kāmaʻa kūikawā, nā koʻokoʻo, nā noho huila.
• ʻO ka hoʻoili puʻuwai kahi lāʻau lapaʻau no ka FA palupalu, akā inā he cardiomyopathy koʻikoʻi.

No ka mālama ʻana i ka FA, pono pinepine ʻoe i ke kōkua o kahi hui kauka multidisciplinary. Hiki i kēia hui ke komo pū me:

• Nā kauka lolo.
• Nā kauka puʻuwai.
• Nā kānaka ʻepekema genetics lapaʻau a me Biochemical.
• He mau kauka endocrinologists nā kauka e loea i ka ʻōnaehana endocrine.
• Nā mea hoʻōla kino.
• Nā kauka ʻōlelo a me nā loea ʻōlelo.
• Nā mea hoʻōla hana.
• Nā kauka ʻoki kino.
• Nā kānaka noʻonoʻo.

Hoʻopilikia ka ataxia a Friedreich i kēlā me kēia kanaka i nā ʻano like ʻole a holomua i nā wikiwiki like ʻole. E hoʻomohala ka hui lapaʻau o kāu keiki i kahi hoʻolālā lapaʻau i hoʻopilikino ʻia i nā hōʻailona o kāu keiki a hiki ke hoʻololi ʻia i ko lākou ulu ʻana.

Aia kekahi ala e pale aku ai i kēia?

No ka mea, ua hoʻokumu ʻia ka ataxia o Friedreich e kahi loli genetic, ʻaʻohe mea hiki iā ʻoe ke hana e pale aku ai. Eia nō naʻe, inā ʻoe e hoʻolālā ana e loaʻa nā keiki, hiki iā ʻoe ke kamaʻilio me kāu kauka a i ʻole kekahi kākāʻōlelo genetic e pili ana i ka hoʻāʻo ʻana e ʻike ai e pili ana i kou pilikia o ka loaʻa ʻana o kahi keiki me kahi maʻi genetic e like me ka ataxia o Friedreich.

He aha ka wānana no kekahi me ka Friedreich's ataxia (FA)?

ʻO ka mea nui e hoʻomanaʻo ai, ʻaʻole i hoʻopilikia like ʻia nā kānaka a pau me ka Friedreich's ataxia. ʻAʻohe mea hiki ke haʻi pololei iā ʻoe i kāu prognosis. ʻO ka mea maikaʻi loa āu e hana ai e hoʻomākaukau no ka wā e hiki mai ana, ʻo ia ke kamaʻilio me nā loea e noiʻi a mālama i ka Friedreich's ataxia.

E pili ana i ke ola holoʻokoʻa

No ka mea, ʻo ka ataxia a Friedreich kahi maʻi e ʻoi aku ka ʻino i ka hala ʻana o ka manawa, ʻoi aku ka pōkole o ke ola o ka poʻe me ka `(FA)` ma mua o ka heluna kanaka maʻamau. ʻO ke kumu nui o ka make ʻana o ka poʻe me ka `(FA)` he maʻi i kapa ʻia ʻo `Hypertrophic Cardiomyopathy`.

Akā, ʻaʻole like ka hopena o ka FA i nā kānaka a pau. ʻO ka hapa nui o ka poʻe me FA e ola ana ma ka liʻiliʻi a hiki i ko lākou mau makahiki 30. Ola kekahi a hiki i ko lākou mau makahiki 60 a ʻoi aku paha.

Āhea ʻoe e ʻimi ai i ke aʻo lapaʻau?

Inā loaʻa iā ʻoe a i ʻole kāu keiki ka ataxia ʻo Friedreich, pono ʻoe e ʻike pinepine i kāu hui lapaʻau no ka mālama ʻana a me ka nānā ʻana i nā hōʻailona.

He mea maʻamau ka manaʻo kaumaha ke ʻike ʻoe ua loaʻa i kāu keiki ka Friedreich's Ataxia (FA). Akā, e hoʻomohala kāu hui lapaʻau i kahi hoʻolālā lapaʻau i kūpono i nā hōʻailona o kāu keiki. ʻO ka mea nui loa, ʻo ia ke hāʻawi i kāu keiki i ke aloha a me ke kākoʻo e pono ai lākou i ko lākou ola a pau, a e makaʻala i nā hōʻailona hou e kū mai ana. Mai poina e mālama iā ʻoe iho. Inā pono, e hui pū me kahi hui kākoʻo, a i ʻole e ʻimi i ke kōkua mai kahi kākāʻōlelo inā manaʻo ʻoe ua kaumaha.

E hoʻomanaʻo ma ke ʻano he hōʻuluʻulu manaʻo (Leka Lawe-Home)

ʻO Friedreich's Ataxia (FA) kahi maʻi genetic laha ʻole i hoʻoilina ʻia e hoʻopilikia nui ana i ka ʻōnaehana nerve, e hoʻoulu ai i nā pilikia neʻe (ʻoi aku ka ataxia - ka nalowale o ke kaulike).

• Kumu: ʻO ka hoʻololi ʻana i loko o ka gene i kapa ʻia ʻo ``(FXN)`` e hopena i ka emi ʻana o ka protein ``Frataxin``.
• Nā ʻano:Hiki ke paʻakikī i ka hele wāwae, ka nalowale o ke kaulike, ka nāwaliwali o nā ʻiʻo, ka paʻakikī i ka ʻōlelo ʻana, ka maʻi puʻuwai, a me ka maʻi diabetes.
• ʻIkepili: ʻO ke kumu nui ma o ka hoʻāʻo ʻana i ka genetic.
• Lapaʻau: Hoʻokele i nā hōʻailona, ​​​​​​ka hoʻōla kino, ka hoʻōla ʻōlelo, a me ka lāʻau lapaʻau i ʻāpono hou ʻia ʻo Omaveloxolone.
• He mea nui: He mea nui e ʻike mua i ka maʻi, e ʻimi i ke kākoʻo o kahi hui lapaʻau loea, a loaʻa ke aloha a me ke kākoʻo o ka ʻohana. He mea nui e makaʻu ʻole, akā e hana ma ka ʻike pololei a me nā ʻōlelo aʻoaʻo lapaʻau.

ʻO Friedreich's Ataxia, FA, nā maʻi genetic, ʻōnaehana nerve, nā maʻi neʻe, ataxia