Ke hāʻule pinepine nei kāu keiki? A i ʻole he paʻakikī iā ʻoe ke ala aʻe, piʻi i nā alapiʻi, holo, a lele paha? I kekahi manawa he mau mea maʻamau kēia e hana ʻia i nā keiki liʻiliʻi i ko lākou ulu ʻana. Eia nō naʻe, i kekahi manawa aia paha kahi pilikia me nā ʻiʻo ma hope o lākou e pono ai ka nānā ʻana. ʻO ia ke kumu e kamaʻilio ai mākou e pili ana i kahi hui o nā maʻi e hoʻonāwaliwali mālie i nā ʻiʻo.
He aha ka Muscular Dystrophy?
I ka ʻōlelo maʻalahi, ʻo ka muscular dystrophy kahi inoa maʻamau no kahi hui o nā maʻi e hoʻonāwaliwali i nā ʻiʻo o ko mākou kino i ka hala ʻana o ka manawa a hōʻemi i ko lākou palupalu. ʻO ke kumu nui o kēia he kīnā i loko o nā genes e kōkua ai e mālama i ko mākou mau ʻiʻo i ke olakino.
Hiki i kekahi poʻe ke loaʻa i ka maʻi i ka wā ʻōpiopio, aʻo kekahi poʻe ʻaʻole paha e hōʻike i kekahi mau hōʻailona a hiki i ko lākou mau makahiki he ʻumi a ʻumikūmālima paha, a hiki paha i ka wā makua.
ʻOkoʻa ke ʻano o ka hopena o kēia maʻi i kēlā me kēia kanaka. Aia ia i ke ʻano o ka maʻi. No nā kānaka he nui, hiki ke ʻoi aku ka ʻino o ke kūlana i ka hala ʻana o ka manawa. Hiki i kekahi poʻe ke nalowale i ka hiki ke hele a kamaʻilio paha. Eia naʻe, ʻaʻole kēia e hana i nā kānaka a pau . Noho kekahi poʻe i kahi ola maʻamau no nā makahiki me nā hōʻailona liʻiliʻi. No laila, ʻaʻohe pono e hopohopo ma mua.
He aha nā ʻano nui o kēia?
Aia ma mua o 30 mau ʻano o ka muscular dystrophy. Akā, aia he 9 mau ʻano nui a mākou e ʻike pinepine ai. ʻOkoʻa kēlā me kēia ʻano ma ke ʻano o ka gene nāna i hoʻokumu, nā ʻiʻo i hoʻopilikia ʻia, ka makahiki e hoʻomaka ai nā hōʻailona, a me ka wikiwiki o ka holomua ʻana o ka maʻi.
| Inoa Maʻi | Wehewehe Pōkole |
|---|---|
| ʻO ka maʻi ʻiʻo Duchenne (DMD) | ʻO kēia ke ʻano maʻamau. Hoʻopilikia nui ia i nā keikikāne. Hoʻomaka ia ma waena o nā makahiki 3-5. |
| ʻO ka dystrophy muscular Becker | Ua like ia me Duchenne, akā ʻaʻole i koʻikoʻi loa nā hōʻailona. ʻOi aku ka maʻamau o kēia i nā keikikāne. ʻIke ʻia nā hōʻailona ma waena o nā makahiki 11-25. |
| ʻO ka dystrophy muscular myotonic | ʻO ke ʻano maʻamau i waena o nā pākeke. ʻO ka hōʻailona nui ka hiki ʻole ke hoʻomaha i kahi ʻiʻo ma hope o kona ʻaelike ʻana. Hiki iā ia ke hoʻopilikia i nā kāne a me nā wahine. Hoʻomaka pinepine ia i nā makahiki 20. |
| ʻO ka dystrophy muscular hānau | Hoʻomaka ia i ka wā hānau a i ʻole ma hope koke iho o ka hānau ʻana. |
| ʻO ka dystrophy muscular limb-girdle | Hoʻopilikia ia i nā ʻiʻo a puni nā pūhaka a me nā poʻohiwi. Hiki ke hoʻomaka i ka wā ʻōpio a i ʻole 20 mau makahiki. |
| ʻO ka dystrophy muscular facioscapulohumeral | Hoʻopilikia ia i nā ʻiʻo o ka maka, nā poʻohiwi, a me nā lima luna. Hiki iā ia ke hoʻopilikia i nā kānaka mai nā makahiki ʻōpio a hiki i nā pākeke i ko lākou mau makahiki 40. |
| ʻO ka dystrophy muscular distal | Hoʻopilikia ia i nā ʻiʻo o nā lima, nā wāwae, nā lima, a me nā wāwae. Hoʻomaka pinepine ia ma waena o nā makahiki 40-60. |
| ʻO ka dystrophy muscular oculopharyngeal | Hoʻomaka ia i nā makahiki 40 a me 50. Hoʻonāwaliwali ia i nā ʻiʻo ma ka maka, ka ʻāʻī, a me nā poʻohiwi, nā lihilihi maka e kūlou ana (ptosis), a me ka paʻakikī i ke ale ʻana (dysphagia). |
| ʻO ka maʻi ʻiʻo ʻo Emery-Dreifuss | Hoʻopilikia pinepine ia i nā keikikāne a hoʻomaka ma kahi o 10 mau makahiki. Ma waho aʻe o ka nāwaliwali o nā ʻiʻo, hiki ke loaʻa pū nā pilikia puʻuwai. |
No ke aha e kū mai ai kēia ʻano maʻi? (Nā kumu)
Hiki ke hoʻoilina ʻia kēia maʻi, a i ʻole hiki ke ulu mua iā ʻoe a i ʻole kāu keiki me ka ʻole o kekahi o kou ʻohana i loaʻa iā ia. Hoʻokumu ʻia kēia e kahi kīnā i loko o nā genes .
E noʻonoʻo e pili ana i ia mea, kuhikuhi kēia mau genes i nā cell i loko o ko kākou kino e hana i nā protein e pono ai lākou e hana i nā hana like ʻole. Ua like ia me kahi meaʻai no kahi pāʻina. Inā hewa kahi gene, hiki i nā cell ke hana i ka protein hewa, emi ka protein ma mua o ka mea e pono ai, a i ʻole kahi protein i hōʻino ʻia.
ʻO ka poʻe me ka muscular dystrophy he kīnā i loko o nā genes e hana ana i nā protein e mālama i nā ʻiʻo olakino a ikaika. No ka laʻana, ma Duchenne lāua ʻo Becker, he protein i kapa ʻia ʻo dystrophin i hana iki ʻia. Hoʻoikaika kēia protein dystrophin i nā ʻiʻo a pale iā lākou mai ka hōʻino ʻia. Ke nalowale kēia protein, maʻalahi ka hōʻino ʻia ʻana o nā ʻiʻo a nāwaliwali.
Pehea e ʻike ai? (Nā hōʻailona)
Hoʻomaka nā hōʻailona o nā ʻano maʻi he nui e ʻike ʻia i ka wā kamaliʻi a i ʻole ka wā ʻōpio. Ma keʻano laulā, hiki i kahi keiki me kēia maʻi ke hōʻike i kēia mau hōʻailona:
- Hāʻule pinepine
- Manaʻo o ka nāwaliwali i nā ʻiʻo
- ʻEhaʻeha o nā ʻiʻo
- Ka paʻakikī ke ala aʻe mai kahi noho, piʻi i nā alapiʻi, holo, a lele paha
- Ke hele wāwae nei ma luna o nā manamana wāwae a i ʻole ke hele wāwae ʻana
He mea nui iā kākou ma ke ʻano he mau mākua ke makaʻala i nā neʻe ʻana o kā kākou mau keiki, ʻoiai hoʻi kā lākou pāʻani. Inā ʻike ʻoe i kekahi mea ʻē, mai kānalua e kamaʻilio me ke kauka.
Eia kekahi, hiki i kekahi poʻe ke loaʻa nā hōʻailona e like me:
- Scoliosis
- Ka lihilihi o ka maka
- Nā pilikia o ka puʻuwai
- Paʻakikī i ka hanu ʻana a i ʻole ka moni ʻana i ka meaʻai
- Nā hemahema o ka ʻike maka
- Ka nāwaliwali o nā ʻiʻo maka
Pehea e hōʻoia ai ke kauka i kēia? (Diagnosis)
E hana ke kauka i kekahi mau hoʻokolohua e hoʻoholo ai inā he nāwaliwali nā ʻiʻo o kāu keiki. ʻO ka mea mua, e hana lākou i kahi hoʻokolokolo kino maʻamau, e nīnau iā ʻoe e pili ana i ka mōʻaukala olakino o kou ʻohana, a nīnau e pili ana i nā hōʻailona o kāu keiki.
Ma hope o kēlā, hiki ke hana ʻia kekahi mau hoʻokolohua e like me kēia e kāpae i nā kūlana ʻē aʻe e hiki ai ke hoʻonāwaliwali i nā ʻiʻo a e hōʻoia pono i ka maʻi.
| Inoa Hoʻāʻo | I ka ʻōlelo maʻalahi, ʻo kēia kāu hana... (Wehewehe Maʻalahi) |
|---|---|
| Nā hoʻāʻo koko | E nānā ʻia nā pae o kekahi mau enzymes e hōʻiliʻili ana i loko o ke koko ke hōʻino ʻia nā ʻiʻo. |
| ʻElectromyography (EMG) | Hoʻokomo ʻia nā electrodes liʻiliʻi i loko o nā ʻiʻo a ana ʻia ka hana uila o nā ʻiʻo. |
| ʻO ka biopsy ʻiʻo | Lawe ʻia kahi ʻāpana ʻiʻo liʻiliʻi loa me kahi nila a nānā ʻia ma lalo o kahi microscope. Hiki i kēia ke ʻike i nā protein i nalowale a i ʻole i hōʻino ʻia. |
| ʻElectrocardiogram (EKG/ECG) | Ana ʻia nā hōʻailona uila o ka puʻuwai e nānā inā olakino ka helu a me ke ʻano o ka puʻuwai. |
| Nā hoʻokolohua genetic | Ma ka hoʻāʻo ʻana i kahi hāpana koko, hiki ke hoʻoholo pono i nā genes hewa e hoʻonāwaliwali ai nā mākala. |
He aha nā lāʻau lapaʻau?
I kēia manawa, ʻaʻohe lāʻau lapaʻau no ka dystrophy muscular. Eia nō naʻe, nui nā lāʻau lapaʻau e hiki ke kōkua i ka kaohi ʻana i nā hōʻailona, e maʻalahi ke ola, a hāʻawi i kāu keiki i ke ʻano maikaʻi loa o ke ola. E ʻōlelo aku kāu kauka i ka lāʻau lapaʻau kūpono loa e pili ana i ke ʻano o ke kūlana o kāu keiki.
- Hoʻōla kino: Kōkua nā ʻano hoʻomaʻamaʻa like ʻole a me nā kīkoʻo e mālama i nā ʻiʻo ikaika a palupalu.
- Hoʻōla hana:Ua aʻo ʻia ke keiki pehea e hana ai i nā hana o kēlā me kēia lā (e laʻa, ke kāhiko ʻana, ke kākau ʻana) i ka mea hiki iā lākou. Ua aʻo ʻia hoʻi lākou pehea e hoʻohana ai i nā mea hana e like me nā noho huila a me nā koʻokoʻo.
- Hoʻōla ʻōlelo: Inā pilikia ʻoe i ka ʻōlelo ʻana ma muli o ka nāwaliwali o kou mau ʻiʻo maka a i ʻole ka ʻāʻī, e aʻo mākou iā ʻoe i nā ala maʻalahi e hana ai pēlā.
- Nā lāʻau lapaʻau:
- ʻO nā lāʻau lapaʻau kikoʻī, e like me `Eteplirsen (Exondys 51)`, e hoʻonui ana i ka hana dystrophin no kekahi mau ʻano DMD.
- Nā lāʻau lapaʻau e hōʻemi ai i nā spasms muscle.
- Nā lāʻau lapaʻau koko no nā pilikia puʻuwai.
- Hiki i nā steroid e like me ka 'Prednisone' ke hoʻolohi i ka hōʻino ʻana o nā ʻiʻo. Eia nō naʻe, he mau hopena ʻaoʻao kēia a pono e hoʻohana wale ʻia ma lalo o ke aʻo a ke kauka .
- ʻoki kino: Pono paha ke ʻoki kino no nā pilikia e like me ka stenosis spinal a me nā pilikia puʻuwai.
Nā mea e noʻonoʻo ai i ka wā e mālama ai i kahi keiki
He mea maʻamau i nā mākua ke kaumaha i ka wā e emi mālie ai ka ikaika o kā lākou keiki a ʻaʻole hiki iā lākou ke holo a pāʻani e like me nā keiki ʻē aʻe. Akā hiki iā ʻoe ke kōkua i kāu keiki e ola hauʻoli me ka nānā ʻole i kēia pilikia.
- E hāʻawi i ka meaʻai maikaʻi: Kōkua ka ʻai kaulike i kāu keiki e mālama i ke kaumaha olakino. Hiki i kēia ke hōʻemi i nā mea e like me nā pilikia hanu.
- E noho hana: Hiki i nā hoʻomaʻamaʻa haʻahaʻa e like me ka ʻauʻau ke kōkua i ka hoʻoikaika ʻana i nā ʻiʻo. E nīnau i kāu mea hoʻoponopono kino e pili ana i kēia.
- E hoʻohana i nā mea kōkua: E paipai i kāu keiki e hoʻohana i nā noho huila, nā koʻokoʻo, a pēlā aku inā pono.
- E noho ikaika: E kamaʻilio me ka ʻohana, nā hoaaloha, a i ʻole ke kākāʻōlelo e pili ana i ke kaumaha, ke kaumaha, a me ka huhū āu e manaʻo nei i kēia huakaʻi. Eia kekahi, ʻo nā hui kākoʻo me nā mākua ʻē aʻe o nā keiki me kēia maʻi hiki ke lilo i kumu ikaika nui.
ʻAʻole like ka hopena o kēia maʻi i nā kānaka a pau. E nalowale koke ana ka ikaika o nā ʻiʻo o kekahi mau keiki. Hiki i kekahi ke nalowale koke aku. No laila, he mea nui e kamaʻilio ākea me ke kauka o kāu keiki e pili ana i kona kūlana a hoʻomohala i kahi hoʻolālā lapaʻau e kūpono loa iā ia.
Leka Lawe-Home
- He maʻi ʻiʻo ka muscular dystrophy e hoʻonāwaliwali ai i nā ʻiʻo i ka hala ʻana o ka manawa.
- ʻO nā hōʻailona mua i nā keiki e komo pū me ka hāʻule pinepine ʻana, ka paʻakikī ke ala aʻe, a me ka hele wāwae ʻana.
- Ma muli o ka nui o nā ʻano o kēia maʻi, he mea nui e ʻimi i ke kōkua lapaʻau no ka loaʻa ʻana o kahi hōʻoia pololei.
- ʻOiai ʻaʻohe lāʻau lapaʻau piha, hiki i ka hoʻōla kino, ka lāʻau lapaʻau, a me nā lāʻau ʻē aʻe ke kaohi i nā hōʻailona a mālama i kahi ola maikaʻi.
- He mea nui loa ka hāʻawi ʻana i ke kākoʻo noʻonoʻo a me kahi kūlana maikaʻi no ke keiki a me ka ʻohana. E kamaʻilio me kāu kauka e pili ana i nā hopohopo.
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