Ma ke ʻano he makua, manaʻo mau paha ʻoe i ke olakino a me ka ulu ʻana o kāu keiki liʻiliʻi. I kekahi manawa, hālāwai mākou me nā maʻi kakaikahi loa a mākou i lohe ʻole ai. ʻO kekahi maʻi genetic kakaikahi akā koʻikoʻi ʻo ia ʻo Cornelia de Lange Syndrome, a i ʻole `(CdLS)` no ka pōkole. Ma mua o ko mākou makaʻu ʻana i kēia, e kamaʻilio maʻalahi a maopopo hoʻi a hoʻomaopopo i ke ʻano o ia mea.
He aha maoli ka maʻi ʻo Cornelia de Lan (CdLS)?
I ka ʻōlelo maʻalahi, ʻo `(CdLS)` kahi maʻi genetic kakaikahi loa i loaʻa i ka wā hānau. Hiki iā ia ke hoʻopilikia i kekahi mau ʻāpana o ke kino o ke keiki. I ka pololei, ua hana ʻia e kahi loli (mutation) i loko o kekahi mau genes e pili ana i ka ulu ʻana o ko mākou kino.
Hiki ke ʻike ʻia kēia ʻano ma nā ʻano nui ʻelua. ʻO kekahi ke ʻano akahai , a ʻo kekahi ke ʻano maʻamau . ʻO ka hapa nui o ka manawa, ke kamaʻilio nei mākou e pili ana i kēia maʻi, ke kamaʻilio nei mākou e pili ana i ke ʻano maʻamau. Eia nō naʻe, hiki i nā keiki me ke ʻano akahai ke hōʻike i kēia mau hōʻailona like, akā i kahi liʻiliʻi.
ʻO ka maʻamau, hānau ʻia nā pēpē me CdLS he liʻiliʻi ke kaumaha a me ka nui. Hiki ke liʻiliʻi ko lākou anapuni poʻo ma mua o kahi pēpē maʻamau. Ma nā ʻōlelo lapaʻau, ua kapa ʻia kēia he microcephaly . Ma waho aʻe o kēia mau loli kino, aia paha kekahi mau pilikia noʻonoʻo a me ke ʻano. Hiki i kekahi mau keiki ke lohi i ka ʻōlelo.
He aha nā hōʻailona o kēia maʻi?
Hiki ke ʻike ʻia nā hōʻailona o ka `CdLS` ma mua a ma hope paha o ka hānau ʻana o ka pēpē. Aia kekahi mau hiʻohiʻona maʻamau i ke ʻano o nā keiki me kēia maʻi. Hiki iā lākou ke ʻike i nā pilikia me ka ʻōnaehana hoʻoheheʻe a me ka ulu ʻana o ka noʻonoʻo. E nānā kākou i kēia mau mea ma kahi papa.
| ʻAno hiʻohiʻona | Nā mea e ʻike ai |
|---|---|
| Nā ʻano kino nui | |
| Poʻo a me ka maka | - ʻOi aku ka liʻiliʻi o ke poʻo ma mua o ka maʻamau (Microcephaly) - Nā maka maka lōʻihi - Nā maka maka ʻāpana waena, lahilahi a mānoanoa paha - Ka laina lauoho haʻahaʻa - Ihu pōkole, piʻi i luna - Nā lehelehe i lalo a lahilahi - Nā niho a me nā maka i mamao loa aku |
| Nā ʻāpana ʻē aʻe o ke kino | - Ka ulu nui ʻana o ka lauoho o ke kino - Nā pilikia me ka ulu ʻana o nā lima a me nā wāwae - Nā kīnā o ka puʻuwai - Lepe ʻāʻī - Cryptorchidism (ʻaʻole i iho nā testicles i nā keikikāne) |
| Nā pilikia ʻōpū | |
| Nā pilikia maʻamau | - Ka paʻa ʻana o ka ʻōpū - Ka maʻi pākī - Ka luaʻi ʻana - Hoʻopiha i ka ʻōpū - Ka nalowale ʻana o ka makemake i kekahi manawa - ʻO ka reflux waikawa o ka ʻōpū (GERD) |
| Nā pilikia noʻonoʻo a me ke ʻano | |
| ʻAno a me ka hoʻomohala ʻana | - Hoʻomohala lohi - Nā pilikia aʻo - Nā pilikia pili i ke ʻano - Ka maʻi hoʻonui ʻole o ka nānā ʻana (ADHD) - Hopohopo - Nā kūlana autism `(Autism)` |
Eia kekahi, hiki i kekahi mau keiki ke loaʻa i nā hemahema o ka lohe a me ka ʻike (no ka laʻana, myopia).
He aha ke kumu o kēia? He mea hoʻoilina anei?
He maʻi ʻo CdLS e hiki ke hoʻopilikia i kekahi, me ka nānā ʻole i ka lāhui a i ʻole ke kāne. I ka hapanui o nā hihia, ua hoʻokumu ʻia e kahi loli genetic e hana koke ʻia a ʻaʻole i ʻike ʻia ma kahi ʻohana ma mua.
A hiki i kēia manawa, ua ʻike ʻia ma kahi o 7 mau genes e hoʻoulu ai i ke ʻano `CdLS`. Hiki i ke keiki me kēia ʻano ke loaʻa nā loli i hoʻokahi a ʻoi aku paha o kēia mau genes. ʻO ke ʻano a me ke koʻikoʻi o ka maʻi e pili ana i ka gene i loaʻa ai ka loli genetic a pehea. No ka laʻana, ʻoi aku ka koʻikoʻi o nā hōʻailona o nā keiki me ka loli o ka gene `(NIPBL)`.
ʻO ka mea nui, inā loaʻa i kekahi keiki o ka ʻohana ka `CdLS`, haʻahaʻa loa ka likelika o ka loaʻa ʻana o ia mea i ke keiki aʻe (ma kahi o 1-2%).
Eia nō naʻe, i nā hihia kakaikahi, inā loaʻa i kekahi makua ke kūlana ʻo `CdLS`, aia he 50% ka manawa e hoʻoilina ai ke keiki iā ia. Ua kapa ʻia kēia he hoʻoilina ʻo `(Autosomal dominant)`.
Pehea e ʻike ai i ka maʻi?
Inā manaʻo ʻoe ua loaʻa i kāu keiki kēia mau hōʻailona, ʻo kāu hana mua e ʻike i kahi pediatrician .
E hana mua ke kauka i kahi hoʻokolokolo kino piha o ke keiki a nīnau iā ʻoe e pili ana i ka mōʻaukala olakino o kāu keiki a me ka ʻohana. E nānā pono lākou i nā hōʻailona kino a me nā ʻōuli e pili ana i ka CdLS.
A laila, hiki ke ʻōlelo ʻia e hoʻāʻo i ka genetic e hōʻoia i ka hōʻailona. ʻImi nui kēia i nā loli i loko o kēia mau genes:
- ʻO NIPBL
- ʻO SMC1A
- RAD21
- ʻO SMC3
- ʻO HDAC8
I ka wā hāpai, hiki i kahi scan ultrasound ma waena o 18-20 mau pule ke ʻike i nā ʻano ʻē i ka maka a i ʻole nā lālā o ka pēpē. Hiki i kēia ke hāʻawi i kekahi mau hōʻailona e pili ana i ka CdLS.
Pehea e mālama ʻia ai?
He mea nui e ʻike i kēia: ʻAʻohe lāʻau lapaʻau kikoʻī e hiki ke ho'ōla loa i ka CdLS. Eia naʻe, ʻaʻole ia he manaʻo ʻaʻohe mea hiki iā mākou ke hana. ʻO ka pahuhopu nui o ka lāʻau lapaʻau, ʻo ia ka hoʻokele ʻana i nā hōʻailona o ke keiki a kōkua iā ia e ola i ke ola olakino a hauʻoli hoʻi e like me ka hiki.
ʻAʻole lawa hoʻokahi kauka no kēia. Hui pū kahi hui o nā loea a me nā mea hoʻōla mai nā ʻano hana like ʻole e hana i ka hoʻolālā lapaʻau maikaʻi loa no ke keiki. Hiki i kēia hui ke komo pū me nā poʻe e like me:
- Nā Kauka Lapaʻau Keiki
- Nā kauka Cardiologists - no nā maʻi puʻuwai
- Nā mea hoʻōla kino - e hoʻomaikaʻi i ka neʻe ʻana o ke kino a hoʻoikaika i nā ʻiʻo
- Nā kauka ʻōlelo - no nā pilikia ʻōlelo a me ke kamaʻilio ʻana
- Nā Gastroenterologists - no nā pilikia ʻōpū
- Nā loea maka a me nā kauka ʻoki ENT
I kekahi mau hihia, pono paha ke ʻoki ʻana e hoʻoponopono i kahi palale māwae a i ʻole kahi kīnā o ka puʻuwai. Hiki ke hāʻawi ʻia ka lāʻau lapaʻau no nā pilikia e like me ka waikawa o ka ʻōpū. Hana ʻia kēia mau hoʻoholo a pau e nā kauka nāna e nānā i kāu keiki.
He aha kāu e ʻōlelo ai e pili ana i ka wā e hiki mai ana?
E hōʻoluʻolu paha ʻoe i ka lohe ʻana i kēia. ʻO ka hapa nui o nā keiki me ka `CdLS` e ola ana i kahi ola maʻamau. Eia nō naʻe, no ka mea he pae ko lākou o ke kīnā noʻonoʻo, pono lākou i ke kākoʻo a me ka nānā ʻana i ko lākou ola a pau, a hiki i ka wā makua. ʻO ke ʻano kēia o ka hāʻawi ʻana iā lākou i kahi palekana e noho ai a hana, me ka hāʻawi ʻana iā lākou i kahi kūʻokoʻa.
Eia nō naʻe, i nā hihia kakaikahi, hiki i kekahi mau pilikia ke hoʻopōkole i ka manaʻolana o ke ola. ʻOi aku ka pilikia o ka maʻi pneumonia hou, nā kīnā puʻuwai hānau, a me nā pilikia ʻōpū koʻikoʻi inā ʻaʻole i ʻike pono ʻia a mālama ʻia.
No laila, ʻo ka mea nui loa, ʻo ia ka mālama ʻana i kāu keiki ma lalo o ke aʻo lapaʻau kūpono a me ka mālama pono ʻana. Inā ʻoe e hana pēlā, e loaʻa i kāu keiki kahi manawa kūpono e ola ai i kahi ola lōʻihi a hauʻoli hoʻi.
Leka Lawe-Home
- ʻO ka Cornelia de Lange Syndrome (CdLS) kahi maʻi laha ʻole i loaʻa mai ka hānau ʻana mai.
- Hiki ke ʻokoʻa loa nā hōʻailona mai kekahi keiki a i kekahi keiki. Loaʻa paha i kekahi nā hōʻailona iki, aʻo kekahi paha he mau hōʻailona koʻikoʻi.
- ʻOiai ʻaʻohe lāʻau lapaʻau kūikawā no kēia, hiki i ka mālama ʻana i nā hōʻailona ke kōkua i ke keiki e ola i kahi ola maikaʻi aʻe.
- He mea nui ke kākoʻo o kahi hui o nā kauka loea a me nā mea hoʻōla no kēia.
- Inā he kānalua kou e pili ana i kāu keiki, mai hoʻokaʻulua a kūkākūkā me ke kauka keiki. Me ka mālama pono a me ke aloha, hiki i kēia mau keiki ke noho hauʻoli.
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