Ua nāwaliwali nā ʻiʻo o kāu keiki? E kamaʻilio kākou e pili ana i ka Spinal Muscular Atrophy (SMA)

Ua ʻike anei ʻoe he palupalu iki kāu pēpē, a he lohi iki paha ʻo ia i ka hāpai ʻana i kona poʻo i luna a i ʻole ka ʻōwili ʻana e like me nā pēpē ʻē aʻe? I kekahi manawa he mea maʻamau ia no mākou ma ke ʻano he mau mākua ke hopohopo iki i ka ʻike ʻana i kahi keiki liʻiliʻi e holo ana a puni, e hāʻule ana, a i ʻole e pilikia ana i ka piʻi ʻana i nā alapiʻi. ʻOiai ʻaʻole kēia mau hōʻailona he hōʻailona mau o kahi mea koʻikoʻi, i kekahi manawa aia kahi maʻi kakaikahi ma hope o lākou e pono ai mākou e makaʻala. ʻO ia ka spinal muscular atrophy, a i ʻole ka mea a mākou e kapa nei ma ke ʻano lapaʻau ʻo ' Spinal Muscular Atrophy (SMA)'.

I ka ʻōlelo maʻalahi, he aha kēia SMA?

ʻO ka Spinal Muscular Atrophy (SMA) kahi maʻi genetic laha ʻole e hoʻonāwaliwali mālie ai nā ʻiʻo manawaleʻa, ʻo ia hoʻi nā ʻiʻo a mākou e hoʻomalu ai e neʻe. Hoʻopilikia nui ia i nā hunaola nerve ma ka ʻaoʻao haʻahaʻa o ko mākou kaula spinal.

E noʻonoʻo i kēia ʻano. Hoʻouna ko kākou lolo a me ke kaula kuamoʻo i ka hōʻailona uila, a i ʻole ka leka, i ko kākou mau ʻiʻo e "neʻe." Lawe ʻia kēia leka e nā ʻāpana aʻalolo kūikawā i kapa ʻia ʻo nā neurons motor. No ka mālama ʻana i ke olakino o kēia mau ʻāpana aʻalolo, he mea nui kahi protein i kapa ʻia ʻo "Survival Motor Neuron" (SMN) i hana ʻia e kahi gene i kapa ʻia ʻo SMN1.

I loko o ke kanaka me SMA, ma muli o kahi kīnā i loko o ka gene `SMN1`, ʻaʻole i hana ʻia ka protein `SMN` i ka nui e pono ai. Ke nalowale kēia protein, make mālie nā hunaola nerve (nā neuron motor) e lawe ana i kēlā mau leka. A laila, ʻaʻole loaʻa i nā ʻiʻo nā hōʻailona e pono ai. ʻO nā ʻiʻo i hoʻohana ʻole ʻia e emi mālie a lilo i nāwaliwali. ʻO kēia ka mea a mākou e kapa nei he atrophy muscle .

He aha nā hōʻailona a me nā ʻano o SMA?

ʻOkoʻa nā hōʻailona o ka SMA mai kēlā kanaka a kēia kanaka. Aia lākou i ka nui o ka protein `SMN` i hana ʻia i loko o ke kino. Ma waho aʻe o ka gene nui i kapa ʻia ʻo `SMN1`, loaʻa iā mākou kahi gene `kōkua` i kapa ʻia ʻo `SMN2`. Hoʻopuka pū kēia gene `SMN2` i kekahi nui o ka protein `SMN`. ʻO ka nui o nā kope o ka gene `SMN2` i loaʻa i ke kanaka, ʻoi aku ka mālie o nā hōʻailona.

Ua māhele ʻia ʻo SMA i 5 mau ʻano nui e pili ana i ka makahiki e ʻike ʻia ai nā hōʻailona .

He aha ke kumu o SMA?

He maʻi hoʻoilina ka SMA i hoʻoili ʻia mai kēlā hanauna a i kēia hanauna. I ka pololei, ua hoʻoilina ʻia ma ke ʻano he ʻano 'autosomal recessive'. He aha ke ʻano o ia mea?

I ka ʻōlelo maʻalahi, i mea e loaʻa ai i kahi keiki ka SMA, pono i nā mākua ʻelua ke hoʻoilina i kahi kope o ka gene SMN1 hemahema. Inā hoʻokahi wale nō makua e hoʻoilina i ka gene hemahema, ʻaʻole e loaʻa i ke keiki ka SMA. Eia naʻe, e lilo ke keiki i "mea lawe" o ka maʻi. ʻO ke ʻano kēia, ʻaʻole e loaʻa i ke keiki nā hōʻailona, ​​akā hiki nō iā ia ke hoʻoili i ka gene hemahema i kā lākou mau keiki i ka wā e hiki mai ana.

Pehea e ʻike pono ai i ka maʻi?

E like me nā ʻāina he nui i kēia lā, nānā ʻia nā pēpē hānau hou no nā maʻi genetic e like me kēia ma Sri Lanka. Eia nō naʻe, i kekahi manawa, ʻoiai ka poʻe me nā hōʻailona liʻiliʻi, ʻike ʻia lākou ma hope.

Inā he mau hopohopo kou e pili ana i kāu keiki, hiki i ke kauka ke nīnau i nā nīnau e like me kēia ke ʻike ʻoe iā ia:

• Ua lohi anei kāu pēpē i ka hala ʻana i nā pae hoʻomohala e like me ke hāpai ʻana i ko lākou poʻo i luna a me ka ʻōwili ʻana?
• He paʻakikī anei i ke keiki ke noho a kū i luna paha ma kāna iho?
• Ua ʻike anei ʻoe i kekahi pilikia hanu?
• I ka manawa hea ʻoe i ʻike mua ai i kēia mau hōʻailona?
• Ua loaʻa i kekahi o kou ʻohana kēia mau hōʻailona ma mua?

Ma waho aʻe o kēia mau nīnau, hiki ke hana ʻia nā hoʻokolohua e hōʻoia i ka maʻi:

• Hoʻāʻo ʻana i ka hoʻoilina: Lawe ʻia kahi hāpana koko a hoʻāʻo pololei ʻia ka gene `SMN1` e ʻike inā he hemahema a nalowale paha. ʻO kēia ka hoʻāʻo nui e hōʻoia i ka maʻi.
• Hoʻāʻo koko Creatine Kinase (CK): Ke nāwaliwali nā ʻiʻo, hōʻiliʻili kahi enzyme i kapa ʻia ʻo CK i loko o ke koko. Inā kiʻekiʻe kēia, hiki ke kānalua ʻia he hōʻino ʻia nā ʻiʻo.
• Nā Hoʻāʻo ʻana i nā Aʻalolo : ʻO nā hoʻāʻo e like me ka Electromyogram (EMG) e nānā pehea e hoʻouna ai nā aʻalolo i nā hōʻailona i nā ʻiʻo.
• MRI a i ʻole CT scan: E kiʻi i nā kiʻi kikoʻī o loko o ke kino, ʻoiai ke kuamoʻo a me nā ʻiʻo.
• ʻO ka Biopsy Muscle: I kekahi manawa, lawe ʻia kahi ʻāpana liʻiliʻi o ka ʻiʻo a nānā ʻia ma lalo o kahi microscope e hōʻoia i ke ʻano o ka hōʻino.

He aha nā lāʻau lapaʻau no SMA?

He ʻumi a ʻumikūmālima mau makahiki i hala aku nei, ua loaʻa i ka SMA nā lāʻau lapaʻau kākoʻo wale nō i kāohi i nā hōʻailona. Eia nō naʻe, i kēia lā, me ka holomua o ka ʻepekema lapaʻau, aia kekahi mau lāʻau lapaʻau kūpono loa ma ka honua e kuhikuhi ana i ka pilikia genetic e hoʻoulu ai i ka SMA.

1. Mālama Kākoʻo

ʻOiai ʻaʻole e ho'ōla kēia i ka maʻi, he mea nui lākou no ka hoʻomaikaʻi ʻana i ke ola o ke keiki.

• Kākoʻo hanu: ʻOi loa aku i nā ʻAno 1 a me 2, i ka wā e nāwaliwali ai nā ʻiʻo hanu, pono paha kahi pale maka kūikawā a i ʻole, i nā hihia koʻikoʻi, kahi mīkini (ventilator) e kōkua i ka hanu ʻana.
• ʻAi a me ke ale ʻana: No ka mea, ua nāwaliwali nā ʻiʻo ale ʻana, pono ke kōkua o kahi mea lapaʻau meaʻai e hōʻoia i ka loaʻa ʻana o ka meaʻai maikaʻi i ka pēpē. Pono paha kekahi mau pēpē e hānai ʻia ma o kahi ʻōmole hānai.
• Neʻe ʻana a me ka Hoʻōla Kino: Hiki i nā hoʻomaʻamaʻa hoʻoikaika kino ke kōkua i ka pale ʻana i nā hono a mālama i nā ʻiʻo ikaika. Inā pono, hiki paha iā ʻoe ke hoʻohana i nā pale wāwae, kahi mea hele wāwae, a i ʻole kahi noho huila uila.
• Nā pilikia kua: No nā keiki me ka scoliosis, hiki i ke kauka ke ʻōlelo e komo i kahi corset kūikawā (back brace) e mālama pono i ke kua.

2. Nā Lapaʻau i Hoʻolālā ʻia e ka Gene

ʻO kēia nā lāʻau lapaʻau i hoʻololi i ka mālama ʻana i ka SMA.

• Nusinersen (Spinraza): Hāʻawi ʻia kēia lāʻau lapaʻau ma ke ʻano he inikini i loko o ke kahe o ka iwi kuamoʻo. Hana ia ma ka hoʻoulu ʻana i ka gene "kōkua", SMN2, a mākou i kamaʻilio ai ma mua, a ke kumu e hana hou ai i ka protein SMN. Pono e lawe ʻia i kēlā me kēia mau mahina.
• ʻO Onasemnogene abeparvovec-xioi (Zolgensma): He lāʻau lapaʻau gene kēia i hāʻawi ʻia i hoʻokahi manawa ma ke kino. Hoʻololi ia i ka gene SMN1 hemahema me kahi kope olakino o ka gene SMN1. Hāʻawi pinepine ʻia i nā keiki ma lalo o 2 mau makahiki.
• ʻO Risdiplam (Evrysdi): He lāʻau wai waha kēia i kēlā me kēia lā e hana pū ana ma ka hoʻonui ʻana i ka hana ʻana o ka protein `SMN` mai ka gene `SMN2`.

ʻOiai he pipiʻi loa kēia mau lāʻau lapaʻau, ua hōʻike ʻia e hoʻomaikaʻi nui lākou i nā pae hoʻomohala o nā keiki (paʻa poʻo, noho) a kāohi i ka holomua o ka maʻi. Pono ʻoe e kūkākūkā me kāu kauka i ka lāʻau lapaʻau maikaʻi loa no kāu keiki.