He aha kāu e ʻike ai e pili ana i ka Spinal Muscular Atrophy i nā pēpē

Anter

• Nā ʻano a me nā ʻōuli o SMA
• ʻAno 0
• ʻAno 1
• ʻAno 2
• Nā ʻano 3 a me 4
• Nā kumu o SMA
• Kānāwai o SMA
• Lapaʻau o SMA
• Lako pono pēpē kūikawā
• ʻLelo aʻoaʻo genetic
• ʻO ka lawe lawe ʻana

ʻO ka atrophy musinalular (Spinal muscular atrophy) (SMA) kahi maʻi laha ʻole i kumu nāwaliwali. Hoʻopili ia i nā neurons motika i ka iwi kuamoʻo, e hopena ai i ka nāwaliwali o nā mākala i hoʻohana ʻia no ka neʻe. I ka hapanui o nā hihia o SMA, aia nā hōʻailona a me nā ʻōuli i ka wā hānau a i ʻole hōʻike ʻia i loko o nā makahiki 2 mua o ke ola.

Inā he SMA kāu pēpē, e kaupalena ia i ko lākou ikaika a me ko lākou hiki ke neʻe. Pilikia paha i kāu pēpē i ka hanu ʻana, ʻānai ʻana, a me ka hānai ʻana.

Lawe iki i kahi manawa e aʻo ai e pili ana i ka hopena o ka SMA i kāu keiki, a me kekahi o nā koho lapaʻau i loaʻa e mālama i kēia ʻano.

Nā ʻano a me nā ʻōuli o SMA

Hoʻokaʻawale ʻia ʻo SMA i ʻelima mau ʻano, ma muli o ka makahiki ke ʻike ʻia nā ʻōuli a me ke koʻikoʻi o kēia ʻano. Holomua nā ʻano a pau o SMA, ʻo ia hoʻi ke ʻino lākou i ka hala ʻana o ka manawa.

ʻAno 0

ʻAno 0 SMA ka ʻano rarest a ʻoi loa hoʻi.

Ke loaʻa ka pēpē i ke ʻano 0 SMA, ʻike ʻia ke ʻano ma mua o ka hānau ʻia ʻana, ʻoiai lākou e ulu nei i ka ʻōpū.

ʻO nā pēpē i hānau ʻia me ke ʻano 0 SMA nā nāwaliwali nāwaliwali loa, me nā mākala nāwaliwali nāwaliwali. Pilikia pinepine lākou i ka hanu ʻana.

ʻO ka hapa nui o nā pēpē i hānau ʻia me ke ʻano 0 SMA ʻaʻole e ola ma mua o 6 mau mahina.

ʻAno 1

ʻIke ʻia ʻo ʻAno 1 SMA ma ke ʻano he maʻi Werdnig-Hoffmann a i ʻole SMA kiʻekiʻe. ʻO ia ka ʻano maʻamau o ka SMA, e like me ka National Institutes of Health (NIH).

Ke loaʻa ka pēpē i kahi ʻano 1 SMA, e hōʻike paha lākou i nā hōʻailona a me nā ʻōuli o ke ʻano i ka wā hānau a i ʻole ma waena o 6 mau mahina o ka hānau ʻana.

ʻAʻole hiki i nā keiki me ke ʻano 1 SMA ke kāohi i ko lākou neʻe ʻana i ke poʻo, ʻolokaʻa, a noho ʻole me ke kōkua ʻole. Pilikia paha i kāu keiki e omo a ale paha.

ʻO nā keiki me ke ʻano 1 SMA he mau puʻupuʻu nāwaliwali nā naʻau a me nā umauma ʻano ʻē. Hiki i kēia ke kumu i nā pilikia hanu koʻikoʻi.

ʻAʻole ola nā keiki he nui me kēia ʻano SMA i ka wā kamaliʻi. Eia nō naʻe, kōkua i nā hoʻoponopono hou i hoʻomākaukau ʻia e hoʻomaikaʻi i ka nānā i nā keiki me kēia ʻano.

ʻAno 2

ʻIke ʻia kekahi ʻano 2 SMA ma ke ʻano he maʻi Dubowitz a i ʻole SMA waena.

Inā loaʻa kāu pēpē i kahi ʻano 2 SMA, e ʻike ʻia nā hōʻailona a me nā ʻōuli o ke ʻano ma waena o nā makahiki o 6 a me 18 mahina.

ʻO nā keiki me ka 2 ʻano maʻamau e aʻo e noho ma kā lākou iho. Eia nō naʻe, hāʻule ka ikaika o ka mākala a me nā mākau kaʻa i ka hala o ka manawa. ʻO ka hope, makemake nui lākou i ke kākoʻo hou e noho.

ʻAʻole hiki i nā keiki me kēia ʻano SMA ke aʻo e kū a hele wāwae paha me ke kākoʻo ʻole. Hoʻomohala pinepine lākou i nā ʻōuli ʻē aʻe a i ʻole nā ​​pilikia, e like me ka haʻalulu i ko lākou mau lima, ka curvature ʻokoʻa o ko lākou kuamoʻo, a me nā pilikia hanu.

Ola nā keiki he nui me ke ʻano 2 SMA i ko lākou 20 a 30 paha.

Nā ʻano 3 a me 4

I kekahi mau hihia, hānau ʻia nā pēpē me nā ʻano SMA e hana ʻole i nā ʻōuli i ʻike ʻia a hiki i ka hope o ke ola.

ʻIke ʻia ʻo Type 3 SMA ma ke ʻano ʻo Kugelberg-Welander maʻi a i ʻole SMA haʻahaʻa. ʻIke ʻia ia ma hope o 18 mau makahiki o kou mau makahiki.

Kāhea ʻia ʻo ʻAno 4 SMA he haumāna ʻōpio a i ʻole SMA hoʻomaka. Hōʻike ia ma hope o ka wā kamaliʻi a mālama i nā ʻōuli haʻahaʻa a akahai wale nō.

ʻO nā keiki a me nā mākua me ke ʻano 3 a ʻano 4 SMA paha e ʻike i nā pilikia me ka hele wāwae ʻana a i ʻole nā ​​neʻe ʻē aʻe, akā loaʻa iā lākou nā manaʻolana ola maʻamau.

Nā kumu o SMA

Hoʻokumu ʻia ʻo SMA e nā hoʻololi i ka SMN1 ʻāpana Hoʻopili pū ʻia ke ʻano a me ke koʻikoʻi o ke ʻano e ka helu a me nā kope o ka SMN2 ʻāpana i loaʻa i kahi pēpē.

E hoʻomohala iā SMA, pono i kāu pēpē i ʻelua kope o ka SMN1 ʻāpana I ka hapanui o nā hihia, hoʻoili nā pēpē i hoʻokahi kope o ka ʻāpana i hoʻopili ʻia mai kēlā me kēia mākua.

ʻO ka SMN1 a SMN2 hāʻawi nā ʻāpana i nā ʻōkuhi i ke kino no ka hana ʻana i kahi ʻano protein i ʻike ʻia ma ke ʻano he protein neuron ola (SMN). Pono ka protein SMN i ke olakino o nā neurons kaʻa, kahi ʻano o ke aʻalolo nerve e hāʻawi i nā hōʻailona mai ka lolo a me ka iwi kuamoo i nā mākala.

Inā he SMA kāu pēpē, ʻaʻole hiki i ko lākou kino ke hana pono i nā protein SMN. ʻO kēia ke kumu o ka make ʻana o nā neurons kaʻa i ko lākou kino. ʻO ka hopena, ʻaʻole hiki i ko lākou kino ke hoʻouna pono i nā hōʻailona kaʻa mai kā lākou iwi kuamoo i ko lākou mau mākala, kahi e alakaʻi ai i ka nāwaliwali o nā mākala, a ma hope e kumu i ka hōʻino ʻana o nā mākala no ka hoʻohana ʻole.

Kānāwai o SMA

Inā hōʻike kāu pēpē i nā hōʻailona a i ʻole nā ​​hōʻailona o SMA, hiki i kā lākou kauka ke kauoha i ka hoʻāʻo ʻana i ka genetics e nānā no nā hoʻololi kūpuna i kumu i ke ʻano. E kōkua kēia i kā lākou kauka e aʻo inā loaʻa nā hōʻailona o kāu keiki e SMA a i ʻole kekahi maʻi ʻē aʻe.

I kekahi mau hihia, ʻike ʻia nā hoʻololi kūpuna i kumu i kēia ʻano ma mua o ka ulu ʻana o nā ʻōuli. Inā loaʻa iā ʻoe a me kāu ʻohana paha ka moʻolelo o ka ʻohana o SMA, e paipai paha kāu kauka i ka hoʻāʻo ʻana i nā kūpuna no kāu keiki, ʻoiai inā he olakino kāu keiki. Inā hōʻoia kāu keiki i ka maikaʻi no ka hoʻololi ʻana o ka moʻokūʻauhau, hiki i kā lākou kauka ke paipai e hoʻomaka koke i ka lāʻau no SMA.

Ma waho aʻe o ka hoʻāʻo genetic, hiki i kāu kauka ke kauoha i kahi biopsy muso e nānā i ka mākala o kāu keiki no nā hōʻailona o ka maʻi maʻi. E kauoha paha lākou i kahi electromyogram (EMG), kahi hōʻike e ʻae iā lākou e ana i ka hana uila o nā mākala.

Lapaʻau o SMA

ʻAʻohe mea ola i ʻike ʻia i kēia manawa no SMA. Eia nō naʻe, loaʻa nā ʻano lapaʻau he nui e kōkua i ka lohi o ka holomua o ka maʻi, hoʻomaha i nā ʻōuli, a mālama i nā pilikia kūpono.

I mea e hoʻolako ai i ke kākoʻo e pono ai i kāu pēpē, pono i kā lākou kauka e kōkua iā ʻoe e hōʻuluʻulu i kahi hui multidisciplinary o nā ʻoihana ola. Pono pono nā māka maʻamau me nā lālā o kēia kime no ka mālama ʻana i ke kūlana o kāu keiki.

Ma ke ʻano he ʻāpana o kā lākou papa hana lapaʻau i koi ʻia, hiki i ka hui olakino o kāu keiki ke ʻōlelo i hoʻokahi a ʻoi paha o kēia mau mea:

• Pahuhopu kau ʻia. I mea e lohi ai a i ʻole kaohi ai i ka holomua o SMA, hiki i ke kauka o kāu keiki ke kuhikuhi a lawelawe i nā lāʻau i hoʻokomo ʻia nusinersen (Spinraza) a i ʻole onasemnogene abeparvovec-xioi (Zolgensma). Hoʻokumu kēia mau lāʻau i nā kumu kumu o ka maʻi.
• Hoʻoikaika hanu. I mea e kōkua ai i kāu pēpē e hanu, hiki i kā lākou hui olakino ke kuhikuhi i ka physiotherapy o ka umauma, ka ea ʻana o ka mīkini, a i ʻole nā ​​hana hanu ʻē aʻe.
• Hoʻoikaika kino. I mea e kōkua ai i kāu pēpē e loaʻa nā mea momona a me nā calories e pono ai lākou e ulu, hiki i kā lākou kauka a i ʻole kauka hānai paha ke paipai i nā mea hoʻopōʻaiapili a i ʻole ka hana ʻana o ka Tube
• Hoʻoikaika kino a me ka hui pū. I mea e kōkua ai i ka hoʻonui ʻana i ko lākou mau mākala a me nā hono, hiki i ke kime olakino o kāu keiki ke kuhikuhi i nā hoʻoikaika kino hoʻoikaika kino. Paipai paha lākou i ka hoʻohana ʻana o splint, braces, a i ʻole nā ​​hāmeʻa ʻē aʻe e kākoʻo i ke kūlana olakino a me ka hoʻonohonoho pū.
• Nā Lapaʻau. No ka mālama ʻana i ka reflux gastroesophageal, ka paʻa paʻa, a i ʻole nā ​​kūpilikiʻi ʻē aʻe o SMA, hiki i ka hui olakino o kāu keiki ke kuhikuhi i hoʻokahi a ʻoi paha nā lāʻau.

Ke hele a makua kāu keiki, e loli paha kā lākou lapaʻau ʻana. ʻO kahi laʻana, inā loaʻa iā lākou nā ʻino o ke kuamoʻo a i ʻole ke kīkala, pono lākou i ke kahakaha ma hope o ka wā kamaliʻi a i ʻole ke kanaka makua.

Inā ʻoe e ʻike i ka paʻakikī o ka naʻau e kū i ke ʻano o kāu pēpē, e hoʻomaopopo i kāu kauka. Paipai paha lākou i ka ʻōlelo aʻoaʻo aʻoaʻo a i ʻole nā ​​lawelawe kākoʻo ʻē aʻe.

Lako pono pēpē kūikawā

E paipai paha ka mea hoʻoponopono kino o kāu pēpē, ka mea hana hana, a i ʻole nā ​​lālā ʻē aʻe o kā lākou hui olakino iā ʻoe e hoʻopukapuka i nā pono hana kūikawā e kōkua ai e mālama iā lākou.

ʻO kahi laʻana, ʻōlelo paha lākou:

• nā mea pāʻani māmā
• lako hana ʻauʻau kūikawā
• hoʻoliʻiliʻi cribs a me nā strollers
• uluna hoʻoheheʻe ʻia a i ʻole nā ​​ʻōnaehana noho a me nā kākoʻo postural

ʻLelo aʻoaʻo genetic

Inā loaʻa iā SMA kekahi o kou ʻohana a ʻohana paha o kāu ʻohana, e paipai paha kāu kauka iā ʻoe a me kāu pakanā e hele i ka ʻōlelo aʻoaʻo genetika.

Inā ʻoe e noʻonoʻo e pili ana i ka loaʻa ʻana o kahi pēpē, hiki i kahi kākā'ōlelo genetic ke kōkua iā ʻoe a me kāu pakanā e loiloi a hoʻomaopopo i kou manawa e loaʻa ai kahi keiki me SMA.

Inā he keiki kāu me SMA, hiki i ke kākāʻōlelo kōkua ke kōkua iā ʻoe e loiloi a hoʻomaopopo i nā manawa kūpono e loaʻa hou kahi keiki me kēia maʻi.

Inā he nui kāu mau keiki a ua ʻike ʻia kekahi o lākou me SMA, hiki nō paha i kā lākou mau kaikaina ke hāpai pū i nā ʻāpana i hoʻopili ʻia. Loaʻa paha i kahi kaikaina ka maʻi akā ʻaʻole e hōʻike ʻia nā ʻōuli ʻike.

Inā manaʻo kāu kauka he makaʻu paha kāu mau keiki i ka loaʻa ʻana iā SMA, hiki iā lākou ke kauoha i ka hoʻāʻo ʻana i nā kūpuna. Hiki ke kōkua i ke kuhi a me ka hoʻomaʻamaʻa mua ʻana i ka hoʻomaikaʻi ʻana i ka nānā lōʻihi o kāu keiki.

ʻO ka lawe lawe ʻana

Inā he SMA kāu keiki, he mea nui e kiʻi i ke kōkua mai kahi hui multidisciplinary o nā ʻoihana ola. Hiki iā lākou ke kōkua iā ʻoe e hoʻomaopopo i ke kūlana o kāu keiki a me nā koho lapaʻau.

Ke kaukaʻi ʻia nei i ke ʻano o kāu keiki, hiki i kā lākou hui olakino ke koi aku i ka lāʻau lapaʻau me kahi lāʻau i manaʻo ʻia. Paipai paha lākou i nā ʻano lāʻau ʻē aʻe a i ʻole nā ​​loli nohona e kōkua i ka mālama ʻana i nā ʻōuli a me nā pilikia kūpono o SMA.

Inā he mea paʻakikī ʻoe e kāpae i nā pilikia o ka mālama ʻana i kahi keiki me SMA, e hōʻike i kāu kauka. Hiki iā lākou ke kuhikuhi iā ʻoe i kahi kākāʻōlelo, hui kākoʻo, a i ʻole nā ​​kumuwaiwai kākoʻo ʻē aʻe. Loaʻa i ke kākoʻo naʻau āu e pono ai hiki iā ʻoe ke mālama pono i kou ʻohana.