Loaʻa i kāu pēpē kēia mau hōʻailona? E aʻo kākou e pili ana i ka Williams Syndrome

Ma ke ʻano he makuahine a he makuakāne paha, ʻo kā mākou moeʻuhane nui loa ka loaʻa ʻana o kahi keiki olakino. Akā i kekahi manawa hiki i kā mākou mau keiki ke komo mai i kēia ao me kekahi mau maʻi olakino kakaʻikahi loa. Ke nānā aku nei kāu keiki liʻiliʻi i ka ʻōpiopio ma mua o kona mau makahiki? He ʻokoʻa a kūikawā paha kona helehelena ma mua o nā keiki ʻē aʻe? A he launa pū anei ʻo ia, e minoʻaka ana a e kamaʻilio ana me nā mea a pau āna e ʻike ai? I kekahi manawa he mau hōʻailona kēia o kahi maʻi genetic kakaʻikahi i kapa ʻia ʻo "Williams Syndrome". Mai hopohopo, e kamaʻilio maopopo a maʻalahi mākou e pili ana i kēia.

I ka ʻōlelo maʻalahi, he aha ka Williams Syndrome?

ʻO ka maʻi Williams, i kapa ʻia i kekahi manawa ʻo Williams-Beuren syndrome, he maʻi genetic kakaikahi. I ka ʻōlelo maʻalahi, ʻo nā chromosomes, aia i loko o nā cell o ko mākou kino, e hoʻoholo i nā mea āpau mai ko mākou kiʻekiʻe a i ko mākou kala a me ke ʻano. Ua like lākou me ka puke kuhikuhi e kūkulu ana i ko mākou kino. He ʻāpana liʻiliʻi o ka chromosome 7 i nalowale i kahi keiki me Williams syndrome. Ua like ia me kekahi mau ʻaoʻao i nalowale mai ka puke kuhikuhi. ʻO kēia ʻāpana nalowale o ka gene ke kumu o nā hōʻailona e pili ana i ke kūlana.

Hiki i kēia kūlana ke hoʻopilikia i ka ulu ʻana o ke keiki, ka hiki ke aʻo, ka hana o ka puʻuwai, a me ke ʻano. Hiki iā ia ke hana i kekahi mau pilikia hormonal, e like me ke kiʻekiʻe o ka calcium koko, ka hana ʻole o ka thyroid, a me ka wā ʻōpiopio.

Pehea e hiki mai ai kēia maʻi? ʻO wai ka mea e loaʻa ai kēia ?

I ka hapanui o nā hihia, ʻaʻole kēia he mea i hoʻoilina ʻia mai ka makuahine a i ʻole ka makuakāne. He loli kūlohelohe ia e hana ʻia i ka wā o ka hāpai ʻana, e lilo ana kekahi hapa o ka chromosome 7. No laila, ʻaʻole hiki ke hoʻopiʻi ʻia ka makuahine a me ka makuakāne no kēia. ʻAʻole kēia he mea hiki i kekahi ke pale aku.

Eia nō naʻe, inā he keiki kā kekahi kanaka me Williams syndrome, aia he 50% ka manawa e hoʻoilina ai ke keiki i ke kūlana.

He maʻi laha ʻole kēia. Wahi a nā helu helu ma nā ʻāina e like me ʻAmelika, hoʻokahi wale nō i loko o 10,000 mau keiki i hānau ʻia me kēia maʻi. Aia kekahi mau keiki me kēia maʻi ma Sri Lanka, akā he mea laha ʻole loa ia.

Pehea ka hopena o kēia maʻi i kaʻu keiki?

Hiki ke lilo i mea paʻakikī ka hānai ʻana i kahi keiki me Williams Syndrome, akā me ka ʻike mua ʻana a me ka mālama ʻana a me ke kākoʻo e pono ai, hiki iā lākou ke hoʻokō i ko lākou hiki piha.

E noʻonoʻo wale, no ka mea, he palupalu nā hono o kēia mau keiki, hoʻomaka lākou e noho a hele ma hope iki o nā keiki ʻē aʻe. Loaʻa paha iā lākou kekahi mau kīnā hānau i loko o ko lākou puʻuwai a i ʻole nā ​​​​​​kīʻaha koko e pili ana i ka puʻuwai. I kekahi manawa pono paha kēia i ke ʻoki ʻana. No laila, pono nā hoʻokolohua lapaʻau maʻamau.

ʻO kekahi o nā mea kupaianaha loa e pili ana i kēia mau keiki, ʻo ia ko lākou akamai ʻōlelo a me ke kamaʻilio kiʻekiʻe loa. He nani kā lākou ʻōlelo a he launa pū hoʻi. Akā, ma muli o kēia talena, i kekahi manawa, poina iā mākou ko lākou nāwaliwali aʻo ʻana, no ka laʻana, ka paʻakikī i ke aʻo ʻana i nā helu a me nā leka. He paʻakikī iki ko lākou hoʻomaopopo ʻana i ka ʻokoʻa ma waena o kekahi mea a me kekahi mea ʻē aʻe (ka noʻonoʻo spatial).

He aha nā hōʻailona maʻamau?

ʻAʻole like nā keiki a pau me ka maʻi Williams. Loaʻa paha i kekahi nā hōʻailona hou aʻe, emi paha kekahi. E wehewehe kākou i kēia mau hōʻailona.

Nā mea e makaʻala nui ai: Maʻi puʻuwai

ʻO ka pilikia koʻikoʻi loa i ʻike ʻia ma kēia ʻano, ʻo ia ka maʻi puʻuwai. ʻOi aku ka ʻike ʻia ʻana o ka haiki (stenosis) o nā kīʻaha koko nui e pili ana i ka puʻuwai a me nā kīʻaha koko e lawe ana i ke koko i nā māmā. Hiki i kēia ke alakaʻi i ke koko kiʻekiʻe, ka puʻuwai puʻuwai kūpono ʻole (arrhythmia), a i kekahi manawa hiki i ka hāʻule ʻana o ka puʻuwai. I ka manawa pinepine, ʻo ka manaʻo mua he maʻi Williams ka maʻi o ke keiki ma muli o kēia pilikia puʻuwai.

Pehea e ʻike ai nā kauka i kēia maʻi?

ʻIke pinepine ʻia kēia maʻi i ka wā kamaliʻi a i ʻole ka wā kamaliʻi. Inā kānalua kāu kauka e pili ana i ke ʻano a me nā hōʻailona o kāu keiki, e nānā mua ʻo ia i ke keiki me ke akahele.

A laila, hana ʻia kahi hoʻāʻo genetic kūikawā e hōʻoia i kēia kūlana. Ua like kēia me kahi hoʻāʻo koko maʻamau. Hiki i kēia ke nānā pono inā ua nalowale kēlā ʻāpana o ka chromosome 7 aʻu i ʻōlelo ai ma mua.

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

• No ka nānā ʻana i ka puʻuwai: ECG a i ʻole Echocardiogram (kahi scan ultrasound o ka puʻuwai)
• Ana o ke koko: E nānā inā kiʻekiʻe loa kou koko.
• Nā hoʻāʻo koko a me ka mimi: E nānā i ka hana o nā puʻupaʻa a me nā pae calcium i ke koko.

Pehea e mālama ʻia ai? Hiki ke ho'ōla ʻia kēia?

ʻAʻole hiki ke ho'ōla piha ʻia ka Williams Syndrome. No ka mea, ua hoʻokumu ʻia e kahi hoʻololi genetic. Eia nō naʻe, hiki ke mālama pono ʻia nā hōʻailona a me nā pilikia i hoʻokumu ʻia e ia. ʻO ia hoʻi, hiki iā mākou ke hana i nā mea āpau e hiki ai iā mākou ke kōkua i ke keiki e ola i kahi ola maʻamau a hauʻoli.

E ʻokoʻa ka hoʻolālā lapaʻau mai kēlā keiki a kēia keiki, ma muli o nā hōʻailona o ke keiki.

• Ke kipa ʻana i kahi kauka puʻuwai: Inā he pilikia puʻuwai, nāna e hoʻoholo i ke ʻano o ka lāʻau lapaʻau (hiki i ka lāʻau lapaʻau a i ʻole ke ʻoki ʻana) e pono ai.
• Nā Papahana Hana Waena Mua:He mea nui loa e kuhikuhi i ke keiki i nā mea e like me ka speech therapy a me ka physiotherapy e pale ai i ka lohi o ka ulu ʻana.
• Hoʻonaʻauao Kūikawā: Inā he mau pilikia aʻo, pono i kahi keiki kahi ʻōnaehana hoʻonaʻauao i hoʻopilikino ʻia i kā lākou mau pono.
• Nā loea ʻē aʻe: Inā kiʻekiʻe kou pae calcium i ke koko, pono paha ʻoe e ʻike i kahi nephrologist a i ʻole ka meaʻai. Pono paha ʻoe e ʻimi i ke kōkua o nā loea no nā pilikia niho, maka, a me ka pepeiao.

He aha kaʻu mea e pono ai e ʻike ma ke ʻano he makua?

He mea maʻamau ke kaumaha a me ka makaʻu ke loaʻa iā ʻoe kahi maʻi e like me kēia. Akā ʻo ka mea nui loa, ʻo ia ke hāʻawi i kāu keiki i kou aloha maikaʻi loa, ka mālama, a me ke kākoʻo.

• E ʻike i kāu kauka i ka manawa kūpono: He mea nui e nānā mau i ke olakino o kāu keiki, ʻoiai no nā pilikia e pili ana i ka puʻuwai.
• E hoʻomanawanui: Aʻo kāu keiki i nā mea āpau ma kona wikiwiki ponoʻī. E hana pū me ia me ke ahonui a me ke aloha. E mahalo i kāna mau hoʻokō liʻiliʻi.
• ʻAʻole ʻoe hoʻokahi: ​​E kamaʻilio me nā mākua ʻē aʻe nona nā keiki e like me kēia. E lilo kā lākou mau ʻike i kumu ikaika nui nou. Eia kekahi, e kamaʻilio ākea me kāu kauka e pili ana i kāu mau nīnau a me nā hopohopo.

He ola maʻamau ko ka hapa nui o ka poʻe me ka maʻi Williams. Eia nō naʻe, hiki i nā pilikia puʻuwai koʻikoʻi ke hoʻopōkole i ko lākou ola. Pono paha lākou i kekahi pae kākoʻo i ko lākou wā ʻelemakule.

Āhea ʻoe e ʻike ai i ke kauka?

Inā loaʻa i kāu keiki nā hōʻailona ma lalo nei, he mea nui loa ia e ʻike i kahi pediatrician no ka ʻōlelo aʻo.

Āhea ʻoe e hele ai i ka Emergency Treatment Unit (ETU)?

Inā hōʻike ke keiki i kekahi o kēia mau hōʻailona o ka maʻi puʻuwai, e lawe koke iā ia i ka ʻOihana Pilikia (ETU) o ka haukapila kokoke loa.

• Ka loli ʻana o ke ʻili me ka poni/poni .
• Ka hanu wikiwiki a i ʻole ka paʻakikī o ka hanu ʻana.
• Ke pilikia nui nei i ka ʻai ʻana.
• Wikiwiki loa ka helu o ka puʻuwai .
• Ka pehu ʻana o ke kino, ʻoiai hoʻi ka maka a me nā lālā .

ʻAʻole kēia maʻi e laha, akā ʻo ke ʻano aloha a launa pū o kēia mau keiki he "lalaha" maoli nō ia. Lawe mai lākou i ka hauʻoli i nā mea a pau a puni lākou. Hiki ke paʻakikī ka hana ʻana me kahi maʻi hou, no laila e hāʻawi mau i kāu keiki i kāu kākoʻo.