Loaʻa i kāu keiki ka '22q11.2 Deletion Syndrome'? E kamaʻilio maʻalahi kākou e pili ana i kēia.

I kekahi manawa ke haʻi mai ke kauka iā mākou i ka inoa o kahi maʻi i loaʻa i kāu keiki, manaʻo mākou i ka makaʻu nui, ka haʻalulu, a me ka huikau . ʻO '22q11.2 Deletion Syndrome' kekahi inoa. Mai makaʻu, ʻoiai inā he paʻakikī iki ke kani ʻana o ka inoa. ʻO ka hoʻomaopopo ʻana i kēia maʻi ma nā ʻōlelo maʻalahi e lilo ia i mea kōkua nui iā ʻoe a me kāu keiki. E kamaʻilio kākou e pili ana i kēia me ka maʻalahi loa, mai ka hoʻomaka ʻana.

ʻO ka mea mua, e nānā kākou i ke ʻano o kēia mau genes a me nā chromosomes.

I ka ʻōlelo maʻalahi, ua like ko kākou kino me kahi puke kuhikuhi nui. ʻO nā mokuna o kēia puke ka mea a mākou e kapa nei he 'Chromosomes'. ʻO ka maʻamau, he 46 o kēia mau chromosomes i loko o kahi cell kanaka. Loaʻa i kēlā me kēia o kēia mau chromosomes nā tausani o nā 'genes', ka ʻike e hoʻoholo ai i nā ʻano āpau o ko kākou kino. ʻO nā mea āpau mai ko kākou kiʻekiʻe a hiki i ke kala o ko kākou ʻili a hiki i ke ʻano o ko kākou lauoho ua hoʻoholo ʻia e kēia mau genes.

He maʻi hoʻoilina ka '22q11.2 deletion syndrome'. ʻO ka mea e hana ʻia ma ʻaneʻi , ua nalowale kahi ʻāpana liʻiliʻi loa o ka chromosome 22, mai loko mai o nā chromosome 46 a mākou i ʻōlelo ai. ʻO ka huaʻōlelo Pelekania 'deletion' ʻo ia hoʻi 'deletion' a i ʻole 'reduction'. Ke nalowale kahi ʻāpana o kahi chromosome ma kēia ʻano, ua nalowale pū nā genes ma ia ʻāpana. ʻO ia ke kumu e hiki ai ke hoʻopilikia ʻia ka hana ʻana o nā ʻāpana like ʻole o ke kino, e like me ka puʻuwai, ka ʻōnaehana pale, a me ka lolo.

Ua like anei kēia me ka 'DiGeorge Syndrome'?

ʻAe, ua lohe paha ʻoe i ka inoa ʻo 'DiGeorge Syndrome'. ʻO kēia kekahi o nā hōʻike o ke kūlana holoi 22q11.2. I ka wā ma mua, ma mua o ka hoʻomohala ʻia ʻana o ka hoʻāʻo genetic, ua hoʻohana nā kauka i nā inoa like ʻole no kēia hui o nā hōʻailona, ​​​​e like me 'DiGeorge Syndrome'. Akā ma hope mai, ua ʻike ka hoʻāʻo genetic ʻo ke kumu o ka nui o kēia mau kūlana ʻo ia ka nalowale ʻana o kahi ʻāpana o ka chromosome 22. No laila i kēia manawa ua lawe ʻia lākou a pau ma lalo o ka malu hoʻokahi, '22q11.2 deletion syndrome'.

ʻAʻole nā ​​keiki a pau me kēia maʻi e loaʻa nā hōʻailona like. Loaʻa paha i kekahi mau keiki kekahi mau hōʻailona, ​​aʻo kekahi poʻe he nui paha. Aia ia i ka helu a me ke ʻano o nā genes i nalowale.

Aia ma lalo iho kekahi o nā pilikia maʻamau e pili ana i kēia ʻano.

He aha ke kumu o kēia? Noʻu anei kēia hewa?

Ke ʻike ʻoe ua loaʻa i kāu keiki kēia maʻi, ʻo kekahi o nā nīnau mua e hiki mai ana i kou manaʻo, "Pehea lā i hiki mai ai kēia? Naʻu anei ke kuleana no kēia?"

Aia kekahi mea e pono ai ʻoe e hoʻomaopopo pono ma aneʻi.

ʻO ka hapa nui o ka manawa (ma kahi o 90% o ka manawa), ua hoʻokumu ʻia kēia kūlana e kahi loli genetic maʻamau. ʻO ia hoʻi, ʻaʻole ia he hoʻoilina. Akā i kahi hapa liʻiliʻi o nā hihia (ma kahi o 10%), hiki i ke keiki ke hoʻoilina i ke kūlana mai kekahi o nā mākua. I kekahi manawa, ʻaʻohe hōʻailona o kēlā mau mākua a i ʻole he mau hōʻailona liʻiliʻi loa a ʻaʻole paha i ʻike e pili ana i ia mea. No laila, inā pono, hiki i kāu kauka ke kuhikuhi iā ʻolua no ka hoʻāʻo genetic.

Pehea e mālama ʻia ai?

ʻAʻohe lāʻau lapaʻau hoʻokahi e kūpono i nā mea āpau no kēia ʻano maʻi chromosomal i kēia manawa. No ka mea, aia kēia loli i loko o kēlā me kēia cell i loko o ke kino, ʻaʻole hiki ke hoʻoponopono piha ʻia. Akā, ʻo ka mea nui loa, aia nā lāʻau lapaʻau a me nā ʻano hoʻokele no ka aneane o nā pilikia āpau i hoʻokumu ʻia e kēia.

He ʻokoʻa nā pono lapaʻau o kēia mau keiki no kēlā me kēia keiki. No laila, e hana pū kāu kauka a me kahi hui o nā loea e hana i kahi hoʻolālā lapaʻau i kūpono no kāu keiki. Hiki i kēia hoʻolālā ke komo pū me:

• Lapaʻau no ka maʻi puʻuwai: Inā pono, ʻoki kino e hoʻoponopono ai i ke kīnā puʻuwai.
• Physiotherapy: E hoʻoikaika a hoʻomaʻamaʻa i nā ʻiʻo no nā hana e like me ka hele wāwae a me ka holo ʻana.
• Hoʻōla hana: No ka hoʻomohala ʻana i nā mākau maikaʻi e like me ke nakinaki ʻana i nā kaula kāmaʻa a me ke kākau ʻana.
• Hoʻōla ʻōlelo: No ka lanakila ʻana i nā pilikia ʻōlelo. (Pono e hoʻomaka kēia ma hope o ke ʻoki ʻana e hoʻoponopono i kahi palale māwae inā he hoʻokahi).
• Nā nānā maʻamau: E nānā mau i ka ulu ʻana o ke keiki, ke kaumaha, ke kiʻekiʻe, a me ka lohe.
• Lapaʻau no ka ʻōnaehana pale: Inā nāwaliwali ka ʻōnaehana pale, nā lāʻau lapaʻau kikoʻī (e laʻa me nā hoʻoili iwi iwi) a i ʻole ka ʻōlelo aʻoaʻo e pale aku i nā maʻi.
• Lapaʻau no nā pilikia hormonal: Inā haʻahaʻa nā pae calcium, e kuhikuhi i nā papa calcium a me ka vitamina D.
• Kākoʻo olakino noʻonoʻo: Ke aʻo ʻana no ke kaumaha noʻonoʻo e hoʻopilikia paha i ke keiki a me ʻoe.

Hiki paha i kēia maʻi ke hana i loko o kekahi keiki ʻē aʻe o ka ʻohana?

He pilikia nui nō hoʻi kēia no nā mākua.

• Inā ʻaʻohe o kēia ʻano loli o ka gene i nā mākua ʻelua , haʻahaʻa loa ka pilikia o ka loaʻa ʻana o kēia maʻi i kekahi keiki ʻē aʻe i ka wā e hiki mai ana (ma kahi o 1%).
• Eia nō naʻe, inā loaʻa i kekahi makua kēia ʻano loli o ka gene , loaʻa i kēlā me kēia keiki i hānau ʻia he 50% ka pilikia o ka hoʻoilina ʻana iā ia.

Inā loaʻa i kekahi o kou ʻohana kēia maʻi a i ʻole he kānalua kou no ia mea, ʻo ka mea maikaʻi loa e hana ai, ʻo ia ke ʻike i kāu kauka.E kamaʻilio e pili ana i kēia me kāu kauka. A laila, inā pono, hiki ke hoʻāʻo ʻia ke keiki ponoʻī no kēia kūlana i ka wā hāpai aʻe. Hoʻohana ʻia nā hoʻokolohua e like me `(Chorionic villus sampling)` a i ʻole `(amniocentesis)` no kēia. Akā e hoʻomanaʻo, ʻoiai hiki i kēia mau hoʻokolohua ke haʻi inā loaʻa i ka pēpē ka loli genetic a i ʻole, ʻaʻole hiki iā lākou ke ʻōlelo pololei i ke koʻikoʻi o nā hōʻailona.