Manaʻolana hou no Duchenne Muscular Dystrophy (DMD): E aʻo kākou e pili ana i ka lāʻau lapaʻau ʻo Duvyzat?

Maopopo iaʻu ke kaumaha a me ka weliweli paha ke haʻi aku kāu kauka iā ʻoe ua loaʻa i kāu keiki ka Duchenne muscular dystrophy (DMD). He maʻi genetic kēia e hoʻopilikia nui ana i nā keikikāne a hoʻonāwaliwali mālie i ko lākou mau ʻiʻo. ʻIke pinepine ʻia nā hōʻailona i ka wā kamaliʻi. ʻAʻohe lāʻau lapaʻau piha no DMD i kēia manawa. Akā, mai hopohopo. Ke holomua nei ka ʻepekema lapaʻau i kēlā me kēia lā. Me kēlā holomua, he manaʻolana hou kēia lāʻau lapaʻau hou i kapa ʻia ʻo Duvyzat. E kamaʻilio maʻalahi kākou e pili ana.

He aha ʻo Duvyzat? Pehea kāna hana?

I ka ʻōlelo maʻalahi, pono ko kākou mau ʻiʻo i ka mālama mau ʻana e noho ikaika. E noʻonoʻo i nā ʻiʻo i loko o ko kākou kino e like me ka pā pōhaku. I mea e ikaika ai kēia pā a pili pū kekahi, pono ia i kahi papa maikaʻi o ka mortar. Pēlā nō, no ka mālama ʻana i ko kākou mau ʻiʻo, he mea nui kahi protein kūikawā i kapa ʻia ʻo dystrophin , e like me ka mortar.

ʻO ka Duchenne muscular dystrophy (DMD) kahi maʻi genetic e kū mai ana i ka wā ʻaʻole lawa ka hana ʻana o ke kino i ka protein dystrophin, ʻaʻole lawa ka hana ʻana, a i ʻole ʻaʻole lawa ka hana ʻana. Ke nalowale kēia 'glue', lilo ka paia o nā ʻiʻo i nāwaliwali, haki a ʻaʻole hiki ke hoʻoponopono hou ʻia. ʻO ia ke kumu e nāwaliwali ai nā ʻiʻo i ka hala ʻana o ka manawa.

Ma waho aʻe o kēia pilikia, loaʻa i nā keiki me DMD nā enzymes overactive i kapa ʻia ʻo histone deacetylases (HDACs) . Hoʻoulu kēia i ka mumū mau loa i loko o nā ʻiʻo. Hoʻemi hou kēia i ka hoʻoponopono ʻana o nā ʻiʻo, a ua pani ʻia nā ʻiʻo e ka momona a me nā ʻiʻo ʻeha.

A hiki i kēia manawa, ua hoʻohana nā kauka i nā steroids, ka hoʻōla kino, a me nā mea kōkua e like me nā noho huila e mālama ai i ka DMD. Akā ʻo Duvyzat ka lāʻau lapaʻau nonsteroidal mua. Hana ia ma ke kāohi ʻana i ka enzyme HDAC overactive. Hoʻemi kēia i ka mumū i loko o nā ʻiʻo a hiki iā lākou ke haki. ʻO ke ʻano kēia, ua lohi ka wikiwiki o ka nāwaliwali o nā ʻiʻo.

Pehea e pono ai iaʻu ke hoʻohana i kēia lāʻau lapaʻau?

He lāʻau lapaʻau wai ʻo Duvyzat āu e lawe ai ma ka waha. Pono e lawe ʻia i ʻelua manawa i ka lā, i ke kakahiaka a me ka pō, me ka meaʻai .

• He mea nui loa e lawe i ka lāʻau lapaʻau i ka manawa like i kēlā me kēia lā .
• Ma mua o ka hoʻohana ʻana i ka ʻōmole lāʻau lapaʻau, pono ʻoe e lulu maikaʻi no 30 kekona ma ka liʻiliʻi .
• E ana i ka lāʻau lapaʻau, me ka hoʻohana ʻana i ka syringe kūikawā e hele mai me ia.
• ʻO ka mea nui loa: Mai hoʻohui i kēia lāʻau lapaʻau me ka wai a i ʻole kekahi wai ʻē aʻe.

Hiki i kāu kauka ke hāʻawi wale i kēia lāʻau lapaʻau, a i ʻole hiki iā ia ke hāʻawi pū me nā steroids. E hoʻoholo ʻia ma muli o ke kūlana o ke keiki.

Pehea i aʻo ʻia ai nā waiwai o kēia lāʻau lapaʻau?

Ma kahi noiʻi nui e nānā i ka pono a me ka palekana o kēia lāʻau lapaʻau, ua māhele ʻia nā keikikāne me DMD i ʻelua mau pūʻulu.

1. Hui mua: Ua hāʻawi ʻia iā lākou ka lāʻau ʻo Duvyzat.

2. Hui 2: Ua hāʻawi ʻia iā lākou kahi mea i like me ka lāʻau lapaʻau, akā ʻaʻohe mea hana i loko. I ka lāʻau lapaʻau, kapa mākou i kēia he 'placebo' .

Hana ʻia kēia e ana i ka hopena maoli o ka lāʻau lapaʻau, pehea ka ʻokoʻa o ia mai ka noho wale ʻana ma laila. He mau keikikāne nā mea a pau i komo i kēia noiʻi. ʻO ko lākou makahiki awelika he 9 mau makahiki.

Ma hope o ka hāʻawi ʻana i kēia mau lāʻau lapaʻau no 72 mau pule, ua ana ʻia nā loli i nā hiki o nā keiki. Ua hoʻohana ʻia kekahi mau hoʻokolohua ʻē aʻe no kēia.

• Ka helu o ka North Star Ambulatory Assessment (NSAA): He ʻano hana e ana ai i ka hiki o kekahi me DMD ke hana i nā hana o kēlā me kēia lā.
• Hoʻāʻo hele wāwae ʻeono minuke: ʻIke i ka mamao o kou hiki ke hele wāwae i loko o 6 mau minuke.
• Nā hoʻokolohua MRI: Ana i nā loli i nā waihona momona ma nā ʻiʻo o ka ʻūhā.

He aha nā hopena o ke aʻo ʻana?

He mea hoʻoikaika maoli nā hopena. ʻO ka DMD kahi maʻi e ʻoi aku ka ʻino o nā hōʻailona i ka hala ʻana o ka manawa. ʻO ka mea i maopopo ma kēia noiʻi, ʻo ka lohi o ka hōʻino ʻana o nā keiki i lawe iā Duvyzat ma mua o nā keiki i lawe ʻole i ka lāʻau (ka placebo) .

• Ikaika a me ka neʻe ʻana: Ua piʻi ka manawa i piʻi ai i ʻehā mau papa o ke alapiʻi ma 1.25 kekona wale nō ma hope o 72 mau pule i nā keiki i lawe iā Duvyzat. Akā ua lōʻihi ma kahi o 3 kekona i nā keiki i lawe ʻole i ka lāʻau. ʻO ia hoʻi, ua lohi ʻo Duvyzat i ka emi ʻana o ko lākou hiki ke piʻi i nā alapiʻi ma kahi o 40%.
• Nā helu NSAA: I ka hopena o ke aʻo ʻana, ua emi nui ka emi ʻana o nā helu NSAA i nā keiki i lawe iā Duvyzat ma mua o ka poʻe i lawe ʻole i ka lāʻau. Hōʻike pū kēia ua emi ka nui o ka emi ʻana o ka ikaika o nā ʻiʻo.

Hiki ke ʻokoʻa kēia mau hopena no kāu keiki, no laila pono ʻoe e kūkākūkā i nā pono a me nā pilikia o kēia lāʻau lapaʻau me kāu kauka ma mua o ka hoʻoholo ʻana.

Nā hopena ʻaoʻao a pehea e mālama ai iā lākou?

E like me nā lāʻau lapaʻau āpau, hiki iā Duvyzat ke loaʻa nā hopena ʻaoʻao. He mea nui e makaʻala i kēia.

ʻAʻole kēia wale nō nā hōʻailona. Inā loaʻa iā ʻoe kekahi mau hōʻailona ʻē aʻe, e kamaʻilio me kāu kauka e pili ana iā lākou.

Hiki paha nā pilikia me nā lāʻau lapaʻau ʻē aʻe?

ʻAe, hiki iā Duvyzat ke launa pū me kekahi mau lāʻau lapaʻau ʻē aʻe. No laila, he mea nui e haʻi i kāu kauka e pili ana i nā lāʻau lapaʻau a pau a kāu keiki e lawe nei, me nā lāʻau lapaʻau i kauoha ʻia, nā lāʻau lapaʻau ma luna o ke kūʻai aku (OTC), nā huaora, a me nā huahana lāʻau.

Ma ke ʻano kūikawā, e hoʻomaopopo i kāu kauka inā ʻoe e lawe nei i nā lāʻau lapaʻau aʻe:

• ʻO kekahi mau lāʻau hoʻohaʻahaʻa cholesterol (e like me atorvastatin, simvastatin)
• Nā lāʻau lapaʻau maʻi diabetes e like me ka metformin
• Nā lāʻau lapaʻau e hoʻopilikia ai i ka puʻuwai (e like me ka amiodarone)
• Kekahi mau lāʻau antibiotic (e.g. azithromycin, ciprofloxacin)
• ʻO kekahi mau lāʻau lapaʻau no ka maʻi noʻonoʻo
• ʻO kekahi mau lāʻau lapaʻau no nā maʻi allergies

ʻAʻole i piha kēia papa inoa, no laila ʻoi aku ka maikaʻi o ka haʻi ʻana i kāu kauka e pili ana i nā mea a pau a kāu keiki e lawe nei.