E aʻo kākou e pili ana i ka Williams Syndrome. Mai makaʻu, e kamaʻilio kākou.

He kanaka launa pū anei kāu keiki liʻiliʻi? He kanaka aloha nui anei ʻo ia e minoʻaka a kamaʻilio me nā mea a pau āna e ʻike ai? I ka manawa like, aia kekahi mau lohi iki o ka ulu ʻana a i ʻole nā ​​pilikia aʻo ʻana? I kekahi manawa, ma hope o ia mau ʻano, aia paha kahi maʻi genetic kakaikahi i kapa ʻia ʻo Williams Syndrome. Mai makaʻu ke lohe ʻoe i kēia inoa. He mea kēia e pono ai mākou e kamaʻilio a hoʻomaopopo. I kēia lā, e kamaʻilio mākou e pili ana i nā mea āpau ma ke ʻano maʻalahi hiki iā ʻoe ke hoʻomaopopo.

I ka ʻōlelo maʻalahi, he aha ka Williams Syndrome?

ʻO ka maʻi Williams, i kapa ʻia i kekahi manawa ʻo Williams-Beuren syndrome, he ʻano maʻi genetic kakaikahi i loaʻa i ka wā hānau. Hoʻopilikia ia i ka ulu ʻana o ka neurological. Hiki i nā keiki me kēia ʻano ke loaʻa kahi ʻano ʻokoʻa, nā lohi o ka ulu ʻana, nā pilikia aʻo, a me nā ʻano ʻē o ka cardiovascular.

E noʻonoʻo ua hana ʻia ko kākou kino me kahi puke kuhikuhi nui. Aia i loko o kēia puke kuhikuhi nā genes. Aia kēia mau genes i loko o nā chromosomes. Loaʻa iā kākou he 23 mau pālua o nā chromosomes, ʻo ia hoʻi he 46 ka huina . ʻO ke kanaka me ka maʻi Williams , ua nalowale kahi ʻāpana liʻiliʻi mai ka chromosome 7. Ua like ia me kahi ʻaoʻao nalowale i loko o kēlā puke kuhikuhi. Ma muli o kēia ʻaoʻao nalowale, ʻokoʻa kekahi o nā hana a me ka ulu ʻana o ke kino. ʻO ia ka mea a mākou e kapa nei he Williams syndrome.

He aha nā hopena e hiki ai i kēia kūlana ke hoʻopilikia i ke keiki?

ʻAʻole like nā keiki a pau me kēia maʻi. Hiki ke ʻokoʻa nā hōʻailona mai kēlā kanaka a kēia kanaka. Akā, aia kekahi mau hōʻailona maʻamau. E wehewehe kākou i kēia mau mea.

Nā ʻano kino a me ke ʻano

Hiki i kēia mau keiki ke loaʻa i kahi helehelena maikaʻi a kū hoʻokahi.

Ka ulu ʻana a me ke ʻano

He manawa ko kēia mau keiki e hōʻea ai i kekahi mau pae holomua, akā he mau mana kūikawā nō hoʻi ko lākou.

• ʻŌlelo: Ua lohi iki paha lākou i ka hoʻomaka ʻana e ʻōlelo, akā i ka wā e hana ai lākou, loaʻa iā lākou nā mākau ʻōlelo maikaʻi loa . He akamai loa lākou i ka ʻōlelo ʻana me ka nani a me ka wehewehe ʻana.
• Neʻe ʻana: Ma muli o ke kani haʻahaʻa o nā ʻiʻo (hypotonia), ʻoi aku ka lōʻihi o ke aʻo ʻana i nā mea e like me ke noho ʻana i luna a me ka hele ʻana ma mua o nā keiki ʻē aʻe.
• Ke aʻo ʻana: Loaʻa paha iā lākou kekahi pilikia i ke aʻo ʻana i nā helu, nā leka, a me ka hoʻomaopopo ʻana i ka hakahaka (i luna, i lalo, kokoke, mamao). Akā, he hoʻomanaʻo maikaʻi loa ko lākou.
• Ka launa pū ʻana: ʻO kēia ke ʻano koʻikoʻi loa o kēia mau keiki. He poʻe aloha, aloha, a lokomaikaʻi lākou. He mea paʻakikī iā lākou ke ʻike i nā malihini, no laila e launa koke lākou me kekahi. I kekahi manawa hiki iā lākou ke ulu i ka hopohopo nui a i ʻole ka makaʻu i kekahi mau mea (phobias).

Nā pilikia olakino ʻē aʻe

Hiki i kēia kūlana ke alakaʻi i nā pilikia olakino ʻē aʻe. He mea nui e makaʻala i kēia mau mea.

• Maʻi puʻuwai: ʻO kēia ka mea nui e makaʻala ai . He mea maʻamau ka hāiki ʻana (stenosis) o nā kīʻaha koko nui e pili ana i ka puʻuwai. Hiki i kēia ke alakaʻi i nā kūlana e like me ke koko kiʻekiʻe a me ka puʻuwai puʻuwai kūpono ʻole (arrhythmia).
• Nā pae kalipuna: Hiki ke piʻi aʻe nā pae kalipuna i loko o ke koko a me ka mimi.
• Nā pilikia hormonal: Aia kahi pilikia o ka hypothyroidism, ka wā ʻōpiopio, a me ka maʻi diabetes i ka wā makua.
• Nā maʻi pepeiao: Hiki i nā maʻi pepeiao pinepine ke alakaʻi i ka nalowale o ka lohe.
• ʻĒ aʻe: ʻO ka Scoliosis, ka paʻakikī i ka ʻai ʻana i ka wā kamaliʻi, a me nā pilikia ʻike (farsightedness) e ʻike ʻia nō hoʻi.

Pehea e ʻike ai ke kauka i kēia?

E noʻonoʻo paha kāu kauka i kēia kūlana inā kānalua ʻo ia he lohi ka ulu ʻana o kāu keiki a i ʻole e hopohopo nei no ko lākou helehelena. ʻO ke ala nui e hōʻoia ai i ka hōʻailona me kahi hoʻāʻo genetic . Ua like kēia me kahi hoʻāʻo koko maʻamau. Hiki iā ia ke nānā i kahi chromosome 7 i nalowale.

Eia kekahi, hiki ke hana ʻia kekahi mau hoʻokolohua ʻē aʻe e hōʻoia i nā hōʻailona ʻē aʻe:

• Hoʻokolokolo puʻuwai: Hana ʻia kahi ECG a i ʻole ka scan puʻuwai (Echocardiogram) e nānā i nā pilikia me ka puʻuwai a me nā kīʻaha koko.
• Ke ana ʻana o ke koko: He mea nui e nānā mau i ke koko o kāu keiki.
• Nā hoʻāʻo koko a me ka mimi: Hana ʻia kēia mau hoʻāʻo e nānā i nā pae calcium a me ka hana o nā puʻupaʻa.

Pehea e mālama ʻia ai a hoʻokele ʻia ai?

ʻAʻole hiki ke ho'ōla loa ʻia ka maʻi Williams no ka mea he maʻi hoʻoilina ia. Eia nō naʻe, hiki ke mālama pono ʻia nā hōʻailona a me nā pilikia e pili ana me ia a hiki i ke keiki ke ola i kahi ola maʻamau a hauʻoli.

ʻOkoʻa ka hoʻolālā lapaʻau no kēlā me kēia keiki a koi ʻia ke kōkua o nā loea like ʻole.

1. Kauka Puʻuwai: He mea nui e nānā mau i ka puʻuwai o ke keiki. Inā he pilikia, e kuhikuhi ʻia ka lāʻau lapaʻau e pono ai (lāʻau lapaʻau a ʻoki kino paha).

2. Hana Waena Mua: Aia nā ʻano lapaʻau like ʻole e kōkua i ka ulu ʻana a me ke aʻo ʻana o ke keiki. ʻO ka Lapaʻau ʻŌlelo, ka Lapaʻau Hana, a me ka Lapaʻau Kino nā mea nui.

3. Hoʻonaʻauao Kūikawā: Pono paha nā ʻano hoʻonaʻauao kūikawā e lanakila ai i nā pilikia aʻo e kū mai ana ma ke kula.

4. Nā loea ʻē aʻe: He mea nui e ʻike i nā kauka loea i kēia mau wahi e kāohi i nā pae calcium, mālama i nā pilikia hormonal, a nānā i ke olakino o kou mau niho a me kou mau maka.

I ka manawa hea e ʻike ai i ke kauka a i ka manawa hea e hele ai i ka ETU

He mea nui loa ia e makaʻala i ke olakino o kāu keiki. Mai hoʻokaʻulua i ka ʻimi ʻana i ke aʻo lapaʻau ma nā kūlana ma lalo nei.