He mea hauʻoli no kekahi makua ke ʻike i kā lākou keiki liʻiliʻi e minoʻaka ana a hauʻoli mau ana, ʻeā? Akā, ua manaʻo anei ʻoe i kekahi manawa ʻo kēia ʻoliʻoli mau a me ke kuʻi lima ʻana he hōʻailona ia o kahi maʻi genetic laha ʻole? E kahaha paha ʻoe i ka lohe ʻana i kēia. I kēia lā, ke kamaʻilio nei mākou e pili ana i kekahi o ia ʻano maʻi, ʻo Angelman Syndrome.
I ka pōkole, he aha ka Angelman Syndrome?
He maʻi laha ʻole ka Angelman Syndrome e hoʻopilikia ana i ka ulu ʻana o kāu keiki, ka ʻōlelo, ke kaulike, a me ka neʻe ʻana. I kekahi mau hihia, hiki iā ia ke hana i nā maʻi ʻōʻili.
Ke nānā ʻoe i kahi keiki me kēia maʻi, e ʻike ʻoe ua hauʻoli mau lākou a ʻoi aku ka maikaʻi o ko lākou ʻano ma mua o ke keiki maʻamau. Minoʻaka nui lākou, ʻakaʻaka nui. Hana lākou i kahi neʻe lima e pā ana i ka wā e hauʻoli ai lākou. ʻOiaʻiʻo, hauʻoli pū mākou ke ʻike mākou i kahi keiki e minoʻaka ana. No laila, he mea kupanaha paha iā ʻoe ke manaʻo he hōʻailona paha kēia ʻano hauʻoli o ke keiki no kahi maʻi.
Hiki ke hoʻomaka nā hōʻailona ʻē aʻe e ʻike ʻia i ka wā e ulu ai ke keiki. Eia kekahi laʻana, hiki iā ʻoe ke hoʻomaka e ʻike i nā lohi o ka ulu ʻana , e like me ka ʻōlelo ʻole ʻana i kā lākou huaʻōlelo mua i ka wā i hoʻokahi makahiki ai lākou. Hiki nō hoʻi ke loaʻa nā ʻōhū ma waena o nā makahiki ʻelua a me ʻekolu.
ʻAʻole kēia maʻi e hoʻoweliweli i ke ola. ʻO ia hoʻi, ʻaʻole ia e hoʻopōkole i ke ola o ke keiki. Eia naʻe, i ka ulu ʻana o ke keiki, hiki iā ia ke kū i kekahi mau pilikia me ka neʻe ʻana, ka ʻōlelo ʻana, a me ka ulu ʻana. Akā, mai hopohopo, aia nā lāʻau lapaʻau maikaʻi e mālama ai i kēia mau hōʻailona.
Pehea ka maʻamau o kēia ʻano?
He maʻi laha ʻole ka Angelman Syndrome, e pili ana i hoʻokahi i loko o 12,000 a 20,000 mau kānaka.
He aha nā hōʻailona o ka Angelman Syndrome?
Hiki ke ʻokoʻa nā hōʻailona o kēia maʻi mai kēlā kanaka a kēia kanaka a me ka makahiki. E hoʻokaʻawale kākou iā lākou i ʻelua mau ʻano.
| Nā hiʻohiʻona i ʻike nui ʻia | |
|---|---|
| ʻAno | Wehewehena |
| Ka lohi o ka ulu ʻana | ʻAʻole hiki ke kolo, noho, a hele paha e like me ke kūpono no ka makahiki. |
| Ke kīnā noʻonoʻo | Nā pilikia o ke aʻo ʻana a me ka hoʻomaopopo ʻana. |
| Paʻakikī i ka ʻōlelo ʻana | He mau huaʻōlelo kakaikahi wale nō a kekahi mau keiki e ʻōlelo ai, a ʻo kekahi poʻe, ʻaʻole hiki ke ʻōlelo iki. |
| Paʻakikī ka hele wāwae | He hele wāwae kūpaʻa ʻole, luliluli a me kahi hele wāwae kīkoʻo. |
| Nā pilikia kaulike (Ataxia) | Ke paʻakikī i ka mālama ʻana i ke kaulike o ke kino a me ka hoʻonohonoho ʻana. |
| Nā hopu ʻana | Hiki ke hoʻomaka pinepine ma waena o nā makahiki 2 a me 3. |
| Nā hōʻailona ʻē aʻe e ʻike ʻia | |
|---|---|
| ʻAno | Wehewehena |
| Nā pilikia ʻai i nā keiki liʻiliʻi | Ka paʻakikī i ka omo ʻana a i ʻole ke ale ʻana i ka meaʻai. |
| Nā pilikia hiamoe | Ke ala pinepine ʻana, ka hiamoe ʻole. |
| Scoliosis | Ke kulou ʻana i ke kuamoʻo i ka ʻaoʻao. |
| Nā pilikia o ka ʻōnaehana hoʻoheheʻe | Ka paʻa ʻana a i ʻole ka reflux ʻana o ka waikawa o ka ʻōpū i loko o ka esophagus (GERD) . |
| Nā pilikia maka | Nā neʻe ʻana o nā maka i kāohi ʻole ʻia (nystagmus) , strabismus , a me ka ʻike ʻana i ka mālamalama (photophobia) . |
| Ua emi ke kala o ka ʻili (hypopigmentation) | E lilo ana ke kala o ka ʻili, ka lauoho, a me nā maka i ʻoi aku ka māmā ma mua o ka maʻamau. |
ʻO nā hiʻohiʻona kūikawā i ʻike ʻia ma nā helehelena o kēia mau keiki
- ʻO ke poʻo pōkole a ākea (brachycephaly)
- ʻAlelo nui `(macroglossia)`
- ʻOi aku ka liʻiliʻi o ke poʻo ma mua o ka maʻamau (microcephaly)
- ʻO ka prognathia mandibular
- Waha ākea
- Nā hakahaka nui ma waena o nā niho
Hiki ke ʻike nui ʻia kēia mau hōʻailona i kou wā ʻelemakule.
No ke aha e kū mai ai ka Angelman Syndrome? He aha ke kumu?
E noʻonoʻo he mau puke kuhikuhi ko ko kākou kino. Kāhea mākou i kēia mau genes . Hoʻomalu kēia mau genes i nā mea āpau i loko o ko kākou kino. Hoʻokumu ʻia ka Angelman Syndrome e kahi loli a kīnā paha i loko o kahi gene i kapa ʻia ʻo `UBE3A` . He mea nui loa kēia gene i ka hoʻoponopono ʻana i ka hana o kā mākou ʻōnaehana nerve.
ʻO ka maʻamau, loaʻa iā mākou ʻelua kope o kēlā me kēia gene, hoʻokahi mai ko mākou makuahine a hoʻokahi mai ko mākou makuakāne. Ma ka hapa nui o ke kino, hana nā kope ʻelua. Eia nō naʻe, ma kekahi mau wahi o ka lolo, ʻo ke kope wale nō o ka gene `UBE3A` a mākou e loaʻa ai mai ko mākou makuahine ke hana nei.
Inā ua hōʻino ʻia a nalowale paha ke kope o ka gene `UBE3A` i hoʻoilina ʻia mai ka makuahine, ʻaʻohe gene `UBE3A` hana ma kēlā mau ʻāpana o ka lolo. ʻO kēia ke kumu nui o nā hōʻailona e pili ana me ka Angelman Syndrome.
ʻO ka mea nui, ʻaʻole kēia maʻi i hoʻoilina ʻia. ʻO ke ʻano kēia, inā ʻaʻohe mea o ka ʻohana i loaʻa i ka maʻi, hiki i ke keiki ke loaʻa iā ia ma muli o kahi loli maʻamau o nā genes.
Pehea e ʻike ai nā kauka i kēia maʻi?
ʻAʻole ʻike pinepine ʻia nā hōʻailona o kēia maʻi i ka wā hānau. Hoʻomaopopo pinepine nā kauka i ka maʻi ke hiki ke keiki ma waena o hoʻokahi a ʻehā makahiki.
Inā ʻike ke kauka e ulu mālie ana ke keiki, e like me ka ʻōlelo ʻole ʻana ma ka wikiwiki kūpono no ko lākou mau makahiki a i ʻole ka hoʻomaka ʻole ʻana e hele, kānalua paha ʻo ia. A laila e nānā pono ʻo ia i ke ʻano o ke keiki a me nā hōʻailona ʻē aʻe.
No ka hōʻoia ʻana i ka maʻi, pono ka hoʻāʻo ʻana i ka genetic . Hiki i kēia mau hoʻāʻo ke hoʻoholo pololei inā he kīnā i loko o ka gene `UBE3A`.
Hiki paha ke kuhi hewa i kēia maʻi?
ʻAe, i kekahi manawa hiki ke like ia, no ka mea, ua like nā hōʻailona o ka Angelman Syndrome me kekahi mau maʻi olakino ʻē aʻe.
- Ka maʻi autism spectrum
- lolo lolo
- ʻO ka maʻi Prader-Willi
Ma muli o ka hiki ke hoʻopili ʻia nā kūlana e like me kēia, he mea nui ka hoʻāʻo genetic no kahi hōʻoia pololei.
He aha nā lāʻau lapaʻau no ka Angelman Syndrome?
ʻAʻohe lāʻau lapaʻau no ka Angelman Syndrome i kēia manawa. Eia nō naʻe, nui nā lāʻau lapaʻau e hiki ke kōkua i ka hoʻokele ʻana i nā hōʻailona a kōkua i ke keiki e ola i kahi ola maikaʻi aʻe.
- Nā lāʻau lapaʻau antiseizure: E hāʻawi pono i nā lāʻau lapaʻau i kauoha ʻia e ke kauka.
- Hoʻōla ʻōlelo: Ke kōkua ʻana i ke keiki e hōʻike iā lākou iho me ka hoʻohana ʻana i ka ʻōlelo lima, nā kiʻi, a me nā mea kamaʻilio kūikawā.
- Hoʻōla kino: Kōkua i ka hoʻomaikaʻi ʻana i ka hele wāwae, ke kaulike, a me ka hoʻonohonoho ʻana.
- Hoʻōla hana: Ke aʻo ʻana i ke keiki e hana kūʻokoʻa i nā hana o kēlā me kēia lā.
- Nā mea kōkua: ʻO ka hoʻohana ʻana i nā kākoʻo i kau ʻia ma ke kua, nā kuʻekuʻe wāwae, a i ʻole nā wāwae e kōkua i ka hele ʻana a me ke kū ʻana.
- No nā pilikia hiamoe: E hoʻokumu i nā ʻano hiamoe maikaʻi a e hoʻomaʻamaʻa i ka hele ʻana e hiamoe i ka manawa i hoʻonohonoho ʻia.
- No nā pilikia o ka ʻōpū: E hāʻawi i ka lāʻau i kauoha ʻia e ke kauka.
He ʻokoʻa nā pono lapaʻau o kēlā me kēia keiki. Na kāu kauka e hoʻoholo i ka hoʻolālā lapaʻau maikaʻi loa e pili ana i nā hōʻailona a me nā pono o kāu keiki.
He aha kaʻu e hana ai e mālama ai i kaʻu keiki?
Ma ke ʻano he mau mākua, he kuleana nui kāu e pāʻani ai.
- E hāʻawi i nā lāʻau lapaʻau i kuhikuhi ʻia e ke kauka i ka manawa kūpono a me ka nui kūpono.
- E hōʻoia e hele i nā keʻena lapaʻau e nānā i ka ulu ʻana o kāu keiki.
- E komo kāu keiki i nā kau hoʻoikaika kino, hana, a me ka ʻōlelo.
- E hōʻoia e hele i ke kauka i kēlā me kēia manawa i hoʻonohonoho ʻia.
Pono paha nā keiki me ka Angelman Syndrome i ke kōkua me nā hana o kēlā me kēia lā i ko lākou ola. E hāʻawi ka hui lapaʻau e mālama ana i kāu keiki iā ʻoe i ke kākoʻo a me nā ʻōlelo aʻoaʻo āu e pono ai.
Āhea ʻoe e pono ai e ʻike i ke kauka?
Pono ke keiki me kēia maʻi i nā nānā lapaʻau maʻamau e hōʻoia i ka hana pono ʻana o nā lāʻau lapaʻau a me nā therapies. Inā ʻike ʻoe i kekahi mau loli hou a i ʻole ka ʻino ʻana o nā hōʻailona o kāu keiki, e hoʻomaopopo koke i kāu kauka.
ʻO ka mea nui loa: Inā loaʻa i kāu keiki kahi hopu ʻana no ka manawa mua, e lawe koke iā lākou i ka ʻOihana Pilikia (ETU) o ka haukapila.
Pehea lā ka wā e hiki mai ana o kēia mau keiki?
He ola maʻamau ko ka hapa nui o ka poʻe me ka Angelman Syndrome. ʻO ke ʻano kēia, ʻaʻole lākou e make koke mai ke ʻano. I ka ulu ʻana o ke keiki, e lohi ana kekahi mau neʻe ʻana, ka ʻōlelo ʻana, a me ka ulu ʻana. Eia nō naʻe, hiki i ke keiki ke pāʻani, aʻo, a hana pū me nā keiki ʻē aʻe.
Ma ke ʻano he poʻe mākua, hiki i kekahi poʻe ke noho kūʻokoʻa me kekahi kākoʻo. Pono paha kekahi i ka mālama manawa piha.
He mea maopopo ke kaumaha o ka manaʻo ke lohe ʻoe he hōʻailona ia o kahi maʻi ka minoʻaka nani o kāu keiki. Akā, e hoʻomanaʻo, ʻoiai ma hope o kēia hōʻailona, e mau ana nō i kāu keiki liʻiliʻi kēlā minoʻaka ʻono, kēlā minoʻaka ʻono. ʻO ka mea nui loa, ʻo ia ka hoʻolohe ʻana i ka ulu ʻana o kāu keiki a hāʻawi i ka lāʻau lapaʻau e pono ai i ka manawa kūpono, e like me ka ʻōlelo a ke kauka. E kōkua kāu kauka a me ka hui lapaʻau iā ʻoe i kēlā me kēia ʻanuʻu o ke ala. No laila, mai makaʻu e nīnau a aʻo hou e pili ana i kēia maʻi.
Leka Lawe-Home
- He maʻi laha ʻole ka Angelman Syndrome. ʻAʻole ia i hana ʻia e kekahi hewa o nā mākua.
- ʻO nā hiʻohiʻona nui o kēia ka hauʻoli i nā manawa a pau, ka minoʻaka, ka lohi o ka ulu ʻana, a me ka paʻakikī i ka ʻōlelo ʻana.
- ʻOiai ʻaʻohe lāʻau lapaʻau piha no kēia ʻano, hiki i nā ʻano lapaʻau a me nā lāʻau lapaʻau ke kōkua i ka mālama ʻana i nā hōʻailona a hāʻawi i ke keiki i ke ola maikaʻi.
- Ma ke ʻano laulā, he mea maʻamau ke ola o kēia mau keiki.
- He mea nui loa ka ʻike mua ʻana a me ka hoʻomaka ʻana o ka lāʻau lapaʻau a me nā lawelawe therapeutic no ka wā e hiki mai ana o ke keiki.
- E hahai mau i nā ʻōlelo a kāu kauka a hele i nā keʻena lapaʻau āpau i hoʻonohonoho ʻia.
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