He kanaka launa pū anei kāu keiki liʻiliʻi? Ke minoʻaka nei ʻo ia a kamaʻilio me nā mea a pau āna i hālāwai ai, a he hoaaloha kupaianaha? Ua ʻike paha ʻoe he ʻano helehelena kūikawā iki kona mai nā keiki ʻē aʻe. Inā, me kēia mau mea, aia kekahi mau lohi iki o ka ulu ʻana a me nā pilikia puʻuwai i ke keiki, ke kamaʻilio nei mākou e pili ana i kahi maʻi genetic kakaikahi paha ke kumu. Mai makaʻu ma hope o ka heluhelu ʻana i kēia. E kōkua kēia ʻike iā ʻoe e loaʻa kahi ʻike maikaʻi aʻe i kēia.
He aha ka Williams Syndrome?
I ka ʻōlelo maʻalahi, ʻo Williams Syndrome (WS) kahi maʻi genetic kakaikahi . Hoʻokumu ʻia ia e kahi loli liʻiliʻi loa i loko o kā mākou mau genes. Hiki i kahi keiki me kēia maʻi ke loaʻa nā pilikia me nā ʻāpana like ʻole o ke kino, ʻoiai nā ʻōpū e like me nā kīʻaha koko, ka puʻuwai a me nā puʻupaʻa. Loaʻa iā lākou nā hiʻohiʻona helehelena kū hoʻokahi, nā pilikia aʻo a me nā ʻano pilikino kū hoʻokahi.
ʻO ka mea nui, ʻoiai ʻaʻohe lāʻau lapaʻau piha no kēia, me ka mālama lapaʻau kūpono a me ke kākoʻo, hiki ke kaohi ʻia nā hōʻailona o ke keiki a hiki iā lākou ke kōkua nui i ka lanakila ʻana i nā pilikia o ke ola o kēlā me kēia lā.
ʻO ka ʻokoʻa ma waena o Down Syndrome a me Williams Syndrome
He mau maʻi hoʻoilina nā mea ʻelua. Hiki i nā mea ʻelua ke hoʻopilikia i ka puʻuwai a me ka ʻōnaehana nerve. Akā, ʻokoʻa nā kumu o nā mea ʻelua. Hoʻokumu ʻia ka Down syndrome e kahi kope keu o kahi mea i kapa ʻia he chromosome i loko o nā cell o ko mākou kino. Hoʻokumu ʻia ka Williams syndrome e ka nalowale ʻana o kahi ʻāpana liʻiliʻi o kahi chromosome .
He aha ke kumu o ka Williams syndrome?
E noʻonoʻo i ko kākou kino me he puke kuhikuhi nui lā. Ua kapa ʻia nā ʻaoʻao o kēia puke he mau chromosomes. Aia he 46 mau ʻaoʻao like (23 mau pālua) i loko o kēlā me kēia o kā kākou mau cell. Aia ma ka ʻaoʻao ʻehiku o kēia puke (Chromosome 7) kahi i kākau ʻia ai kahi nui o nā kuhikuhi no ke kūkulu ʻana i ko kākou kino.
Ua hānau ʻia kahi pēpē me ka maʻi Williams me ka ʻole o kahi ʻāpana liʻiliʻi o kēia ʻaoʻao ʻehiku, nona kahi 25 a 27 mau genes. Ua like ia me kahi ʻāpana liʻiliʻi o kahi ʻaoʻao i loko o kahi puke kuhikuhi i haehae ʻia. ʻO nā hōʻailona a ke keiki e hōʻike nei e pili ana i nā genes i nalowale. No ka laʻana, inā nalowale ka gene i kapa ʻia ʻo `ELN` , hiki iā ia ke hana i nā pilikia me ka puʻuwai a me nā kīʻaha koko.
ʻAʻole kēia ka hewa o ka makuahine a i ʻole ka makuakāne. ʻO ka hapa nui o ka manawa, ua hana ʻia e kahi loli maʻamau i ka ulu ʻana o ka sperm a i ʻole ka hua manu. ʻO ia hoʻi, he mea maʻamau loa ia. He mea kākaʻikahi loa, inā loaʻa i kekahi o nā mākua kēia maʻi, hiki i ke keiki ke hoʻoilina iā ia.
Pehea ka maʻamau o kēia?
He maʻi laha ʻole kēia. Hoʻopilikia pinepine ia ma kahi o hoʻokahi i loko o 7,500 a 10,000 mau kānaka.
He aha kēia mau hōʻailona?
ʻAʻole like nā keiki a pau me ka maʻi Williams. Loaʻa paha i kekahi kekahi mau hōʻailona, aʻo kekahi he nui. A hiki ke ʻokoʻa ko lākou koʻikoʻi. E nānā kākou i nā hōʻailona nui.
| ʻAno hiʻohiʻona | Nā mea e ʻike ai |
|---|---|
| Nā hiʻohiʻona helehelena kūikawā | He lae ākea, he ihu pōkole i luna, he waha ākea me nā lehelehe piha, he ʻauwae liʻiliʻi, nā wrinkles ma nā kihi o nā maka, a me kahi hiʻohiʻona hōkū keʻokeʻo a puni nā keʻokeʻo o nā maka. He mau niho liʻiliʻi ko kekahi mau keiki, he hakahaka ma waena o nā niho, a he mau niho kekee paha. |
| ʻAno kūikawā | He launa pū a kamaʻilio nui, he launa nui loa i nā malihini, hoʻomaopopo pono i nā manaʻo o haʻi (empathy), hopohopo nui a me nā makaʻu i nā mea like ʻole (phobias), paʻakikī ke kāohi i nā manaʻo. He mea maʻamau nō hoʻi ka ADHD. |
| Nā lohi o ka hoʻomohala ʻana | Ke kaumaha haʻahaʻa i ka wā hānau, ka paʻakikī i ka hānai waiū, ka lohi o ka loaʻa ʻana o ke kaumaha a me ka ulu ʻana. Ka lohi o ka noho ʻana, ka hele ʻana, a pēlā aku. Paʻakikī me nā hana neʻe maikaʻi e like me ka paʻa ʻana i ka peni. |
| Nā pilikia o ka puʻuwai a me ke koko | ʻO nā kūlana e like me ka hāiki ʻana o ke aʻa nui (aorta) e lawe ana i ke koko mai ka puʻuwai a i ke kino (Supravalvular aortic stenosis - SVAS), ka hāiki ʻana o ke aʻa e lawe ana i ke koko i nā māmā (pulmonary stenosis), ke koko kiʻekiʻe, a me ka puʻuwai puʻuwai kūpono ʻole (arrhythmia) he mea maʻamau. ʻO kēia nā hōʻailona mua e ʻike ʻia. |
| Nā pilikia olakino ʻē aʻe | ʻO ka piʻi ʻana o ka nui o ka calcium i ke koko, nā maʻi pepeiao pinepine, ka scoliosis, nā pilikia o nā puʻupaʻa, nā pilikia o nā hono a me nā iwi, ka leo honi, a me ka wā ʻōpiopio. |
Nā ʻokoʻa aʻo ʻana
Ma kahi o 75% o nā keiki me ka maʻi Williams e loaʻa paha i ke kīnā noʻonoʻo iki. Hiki i kēia ke alakaʻi i nā pilikia aʻo. Ma ka ʻaoʻao ʻē aʻe, he mau hoʻomanaʻo kupaianaha ko kēia mau keiki. Loaʻa paha iā lākou nā mākau ʻōlelo a me ka ʻōlelo, nā mākau heluhelu, a me ke talena nui no ke mele .
Pehea e hana ʻia ai ka hōʻailona?
E nānā mua kāu kauka i kāu keiki, e nīnau e pili ana i ko lākou mōʻaukala olakino ʻohana, a e hoʻolohe i nā hiʻohiʻona kūikawā ma ko lākou helehelena.
Inā kānalua ʻia ka maʻi Williams, hiki ke kauoha ʻia kahi hoʻāʻo koko e hōʻoia iā ia. ʻElua mau ʻano nui no kēia:
1. Hoʻāʻo FISH (Fluorescence in situ hybridization): Ke nānā pololei nei kēia hoʻāʻo i ka gene nalowale ʻo `ELN` ma ka chromosome 7. ʻAʻole i loaʻa i ka hapa nui o ka poʻe me Williams syndrome kēia gene.
2. Chromosome microarray: He hoʻāʻo hou kēia a hoʻohana pinepine ʻia. Nānā ia i nā chromosomes āpau o ka pēpē a ʻike inā ua nalowale kekahi ʻāpana o ka DNA. Hiki iā ia ke kuhikuhi i nā genes i nalowale, e hāʻawi ana i ke kauka i kahi manaʻo maikaʻi aʻe o nā hōʻailona i loaʻa paha i ka pēpē.
Eia kekahi, hiki ke kauoha ʻia nā hoʻokolohua hou aʻe e hoʻoholo ai i ke kūlana kūloko o ke kino o ke keiki.
- Nā hoʻāʻo EKG a i ʻole Ultrasound scan no nā pilikia puʻuwai.
- ʻO ke scan ultrasound e nānā i ke kūlana o nā puʻupaʻa a me ka ʻōpū mimi.
- Ke nānā ʻana i nā pae calcium i loko o ke koko a i ʻole ka mimi.
Pehea e mālama ʻia ai?
E like me kā mākou i ʻōlelo ai ma mua, ʻaʻole hiki ke ho'ōla piha ʻia kēia maʻi. Eia nō naʻe, hiki i ka lāʻau lapaʻau ke kōkua i ka hoʻokele ʻana i nā hōʻailona a kōkua i ke keiki e ola i kahi ola maikaʻi. Pono kēia i ke kōkua o nā loea like ʻole.
- Kauka Puʻuwai: No nā pilikia puʻuwai.
- Endocrinologist: No nā pilikia e pili ana i nā hormones a me nā pae calcium.
- Kauka Lapaʻau Pepeiao, Ihu a me ka Puʻu (Kauka Lapaʻau ENT): No nā maʻi pepeiao.
- Hoʻōla kino: No ka hoʻomaikaʻi ʻana i ka neʻe ʻana o ke kino a me ka ikaika o nā ʻiʻo.
- Hoʻōla ʻōlelo a me ka ʻōlelo: No ka hoʻomaikaʻi ʻana i nā mākau ʻōlelo a me ka ʻōlelo.
Hiki i ka lāʻau lapaʻau ke komo pū me kahi papaʻai e hoʻohaʻahaʻa i nā pae calcium koko, nā lāʻau lapaʻau koko, nā papahana hoʻonaʻauao kūikawā, a, inā pono, ke ʻoki ʻana i nā kīʻaha koko a i ʻole ka puʻuwai. Hoʻoholo ʻia kēia mau mea a pau e kāu kauka .
He aha kāu e hiki ai ke hana ma ke ʻano he makua?
He mea maʻamau ke kaumaha ke ʻike ʻoe he maʻi Williams ko kāu keiki. Akā e kōkua kēia mau ʻoiaʻiʻo iā ʻoe.
- E hāʻawi aku i kāu keiki i ke aloha nui: e ʻae iā ia e ʻimi i ke ao nei e like me kona hiki a me kona wikiwiki.
- E mālama mau i ka launa pū ʻana me nā kauka: E hana mau i nā hoʻokolohua lapaʻau e nānā i ke olakino o kāu keiki.
- E ʻimi i ke kākoʻo hou aku ma ke kula: E kamaʻilio me nā kumu a me ke poʻo kula e pili ana i nā hoʻolālā kūikawā e pono ai no ka hoʻonaʻauao ʻana o kāu keiki.
- E hoʻomaopopo: E aʻo i nā mea āpau e hiki ai iā ʻoe e pili ana i kēia kūlana i hiki iā ʻoe ke kākoʻo pono i kāu keiki.
- E hoʻopili me nā poʻe ʻē aʻe: E kamaʻilio me nā mākua ʻē aʻe nona nā keiki e like me kēia. E nīnau i kāu kauka e pili ana i nā hui kākoʻo.
- E noʻonoʻo hoʻi iā ʻoe iho: E mālama i kou olakino noʻonoʻo a me ke kino i ka wā e mālama ana i kāu pēpē. Inā ʻoe e luhi nei, mai kānalua e noi i ke kōkua.
| I ka manawa hea e ʻimi ai i ke aʻo lapaʻau | |
|---|---|
| E ʻike i ke kauka i nā manawa a pau. | E hele koke i ka Emergency Treatment Unit (ETU) o ka haukapila. |
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Inā he kānalua a makaʻu paha kāu e pili ana i kāu keiki, mai hoʻowahāwahā iā lākou. ʻO ʻoe ka mea ʻike maikaʻi loa i kāu keiki. No laila e ʻimi koke i ke kōkua lapaʻau.
Leka Lawe-Home
- ʻAʻole hewa ka makuahine a i ʻole ka makuakāne i ka maʻi Williams. He loli hoʻoilina ia i ka wā maʻamau.
- Hiki i nā keiki me kēia maʻi ke hōʻike i nā hiʻohiʻona e like me nā hiʻohiʻona helehelena ʻokoʻa, kahi ʻano aloha loa, nā pilikia aʻo, a me nā pilikia puʻuwai.
- ʻOiai ʻaʻohe lāʻau lapaʻau piha no kēia, aia nā lāʻau lapaʻau kūpono loa e hoʻokele ai i nā hōʻailona.
- Me ke aloha a me ke kākoʻo o nā kauka loea, nā mea hoʻōla, nā kumu, a me nā mākua, hiki i kēia mau keiki ke ola i nā ola holomua a hauʻoli loa.
- Inā he mau hopohopo kou e pili ana i kāu keiki, mai hoʻowahāwahā iā ia a e kamaʻilio koke aku i kāu kauka.
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