Loaʻa i kekahi kokoke iā ʻoe ka Coffin-Lowry Syndrome? E kamaʻilio kākou e pili ana i ia mea!

Ua lohe paha ʻoe i kahi maʻi i kapa ʻia ʻo Coffin-Lowry Syndrome (CLS)? He mea hou paha kēia inoa iā ʻoe. He maʻi laha ʻole ia, he maʻi genetic i ʻike ʻole ʻia i ka hapa nui o nā kānaka. Hiki iā ia ke hoʻopilikia i nā ʻāpana like ʻole o ke kino ma nā ʻano like ʻole. E kamaʻilio kākou e pili ana i ia mea ma ke ʻano maʻalahi e hiki ai iā ʻoe ke hoʻomaopopo.

Pehea ka maʻamau o kēia kūlana?

ʻO kaʻoiaʻiʻo, he mea kakaikahi loa kēia `(Coffin-Lowry Syndrome)`. I mea e pololei ai, ʻōlelo nā kānaka ʻepekema e loaʻa ana ia ma kahi o hoʻokahi i loko o 50,000 a 100,000 mau kānaka. ʻO ia hoʻi, he maʻi kakaikahi loa ia. ʻO kekahi mea ʻē aʻe, i ka hapanui o nā hihia, ʻo ia hoʻi, ma waena o 70% a me 80%, ʻaʻohe mea o ka ʻohana i loaʻa i kēia maʻi ma mua. ʻO ia hoʻi, ʻo nā hihia sporadic ka mea maʻamau.

ʻO wai ka mea i ʻoi aku ka paʻakikī o ka loaʻa ʻana o kēia maʻi?

Hiki i kēia kūlana `(CLS)` ke hoʻopilikia i nā keikikāne a me nā kaikamahine. Eia nō naʻe, ʻoi aku ka koʻikoʻi o nā hōʻailona i nā keikikāne. ʻOi aku ka nui, loaʻa pinepine i nā keikikāne me `(CLS)` nā kīnā noʻonoʻo koʻikoʻi. Eia nō naʻe, ʻokoʻa iki ke kūlana no nā kaikamahine. Loaʻa paha i kekahi mau kaikamahine ka naʻauao maʻamau, aʻo kekahi poʻe he mau kīnā noʻonoʻo ʻoluʻolu, waena, a koʻikoʻi paha. He ʻokoʻa ia mai kekahi kanaka a i kekahi.

No ke aha lā kēia e hana nei? He aha nā kumu o kēia?

ʻO ka hapa nui o ka manawa, ua hoʻokumu ʻia ka maʻi Coffin-Lowry e kahi mutation i loko o kahi gene i kapa ʻia ʻo `RPS6KA3` i loko o ko mākou kino. I kēia manawa ke noʻonoʻo nei paha ʻoe i ke ʻano o kahi gene, ʻeā? I ka ʻōlelo maʻalahi, ua like nā genes me kahi hoʻonohonoho o nā kuhikuhi liʻiliʻi i loko o ko mākou kino. ʻO nā mea e like me ke kala o ko mākou lauoho, ke kiʻekiʻe, a me ke kala o ka ʻili ua hoʻoholo ʻia e kēia mau genes. No laila, hana kēia gene `RPS6KA3` i kahi protein kūikawā e kōkua i kā mākou mau cell e "kamaʻilio" kekahi i kekahi, ʻo ia hoʻi, e hoʻololi i ka ʻike. Ke loaʻa kahi kīnā, ʻo ia hoʻi, kahi mutation, i loko o kēia gene, emi ka hana ʻana o kēlā protein i loko o ke kino. Eia naʻe, ʻaʻole maopopo loa i nā kānaka ʻepekema pehea e pili ai ka emi ʻana o kēia protein i ka maʻi Coffin-Lowry.

Aia kekahi mau manawa i loaʻa i kekahi poʻe ke ʻano `(CLS)` akā ʻaʻohe loli i loaʻa i loko o kā lākou gene `RPS6KA3`. I ia mau hihia, he mea pohihihi nō ke kumu o ke ʻano.

He aha nā hōʻailona o kēia?

Hiki ke ʻokoʻa loa nā hōʻailona o ka maʻi Coffin-Lowry mai kēlā kanaka a kēia kanaka. E like me ka mea i ʻōlelo ʻia ma mua, ʻoi aku ka koʻikoʻi o lākou i nā keikikāne. Hoʻopilikia kēia mau hōʻailona i nā ʻāpana like ʻole o ke kino a ʻike nui ʻia me ka makahiki.

Nā hiʻohiʻona kūikawā i ʻike ʻia ma ka maka

Aia kekahi mau ʻano i ʻike ʻia ma ke ʻano o ka maka o ka poʻe me kēia maʻi. Eia kēia mau mea:

• Ua hoʻokaʻawale iki ʻia nā maka ma mua o ka maʻamau, a me he mea lā ua piʻo iki nā kihi o nā maka i lalo.
• ʻOi aku ka nui o nā pepeiao ma mua o ka maʻamau a ua hoʻonoho ʻia i lalo.
• Ua ʻike maopopo ʻia ka lae, nā kuʻemaka, a me ke auwae.
• Ua hoʻohuli ʻia ka ihu i luna a ua ākea nā puka ihu.
• He ākea ka waha a he mānoanoa nā lehelehe.

Nā hiʻohiʻona kūikawā i ʻike ʻia ma nā lima

Hiki ke ʻike ʻia kekahi mau loli ma nā lima:

• Nā manamana lima pālua.
• He mānoanoa nā manamana lima ma ke kumu a lahilahi hoʻi i nā wēlau ('tapered fingers').
• Nui a palupalu ka manaʻo o nā lima.

Nā pilikia e ʻike ʻia ma ke kino

Aia paha kekahi mau pilikia me ka iwi o ke kino:

• He kua kuʻu, ʻo ia hoʻi ke kūlana kūlou (`kyphosis` a i ʻole `scoliosis`) i ʻike ʻia.
• Nā pilikia niho; no ka laʻana, nā loli i ke ʻano o ka waha, nā niho nalowale, a pēlā aku.
• ʻO ka iwi waena o ka umauma e puka i mua a i ʻole e piholo i loko.
• Ka pōkole ʻana o nā iwi lōʻihi o nā lālā (e.g., femur, tibia, a me humerus).
• Pōkole o ke kino (pōkole o ke kiʻekiʻe).
• ʻOi aku ka liʻiliʻi o ke poʻo ma mua o ka nui maʻamau (Microcephaly).

Nā hōʻailona maʻamau ʻē aʻe

Ma waho aʻe o kēia, hiki ke ʻike ʻia nā hōʻailona ʻē aʻe:

• Nā lohi o ka ulu ʻana a me nā kīnā noʻonoʻo.
• Nā hoʻouka hāʻule: He mea kūikawā iki kēia. E noʻonoʻo, i ka pane ʻana i kahi leo koke, kahi hanana koke, a i ʻole kahi manaʻo ikaika, hāʻule koke lākou i ka honua, me he mea lā ua ʻike ʻole lākou. ʻO ka mea kupanaha, ua ʻike lākou i kēlā manawa, akā ʻaʻole hiki iā lākou ke kaohi i ko lākou kino. Ua kapa ʻia kēia ʻo `(Stimulus-induced drop episodes)`.
• Ka hemahema o ka lohe.
• He ʻōniʻoniʻo a palupalu ka ʻili.
• Nā pilikia o ka puʻuwai, ke akepaʻa, a i ʻole nā ​​puʻupaʻa.
• Māwae nui i hoʻopōkole ʻia.
• Paʻakikī i ka ʻōlelo ʻana.
• Ka nāwaliwali o nā ʻiʻo a me ka nalowale o ka ikaika.

Pehea ʻoe e ʻike ai i kēia kūlana?

Aia kekahi mau ala e hiki ai i ke kauka ke ʻike i ka maʻi Coffin-Lowry:

• Ka nānā ʻana i nā hōʻailona: Nānā pono ke kauka i ke keiki e ʻike inā loaʻa iā lākou nā hōʻailona kikoʻī i ʻōlelo ʻia ma luna.
• Hoʻāʻo ʻana i ka hoʻoilina: Hiki i kahi swab papālina a i ʻole ka hoʻāʻo koko ke hōʻoia inā he mutation i loko o ka gene RPS6KA3.
• Nā kukuna X: Hiki i nā kukuna X ke kōkua i ka ʻike ʻana i nā hopena ma ka iwi kuamoʻo, nā manamana lima, a me nā iwi lōʻihi.
• Nā scan lolo ('Neuroimaging studies'): ʻOiai ua hoʻohana ʻia kēia mau mea e aʻo hou aʻe e pili ana i ka lolo, ʻaʻole hiki iā lākou wale nō ke ʻike maopopo i ka maʻi.

Aia kekahi lāʻau lapaʻau piha no kēia? He aha nā lāʻau lapaʻau?

ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau a i ʻole kahi lāʻau lapaʻau kūikawā no ka maʻi Coffin-Lowry. ʻO ka pahuhopu nui ka mālama ʻana i ke kūlana, hōʻemi i nā hōʻailona, ​​a kōkua i nā kānaka e ola maikaʻi a hauʻoli hoʻi.

Pono paha ka poʻe me kēia maʻi e ʻike pinepine i nā loea he nui. Eia kekahi laʻana:

• Nā loea lohe: ʻO kēia ka poʻe e mālama i nā pilikia lohe.
• Nā Kauka Puʻuwai: ʻO kēia ka poʻe nāna e nānā a mālama i nā pilikia o ka puʻuwai.
• Nā Neurologists: ʻO kēia nā kauka e mālama i nā pilikia e pili ana i ka lolo a me ka ʻōnaehana nerve.
• Nā Kauka Maka: No nā pilikia e pili ana i ka ʻike.
• Nā Orthopedists: ʻO kēia ka poʻe e mālama i nā pilikia me nā iwi, nā hono, a me ka iwi kuamoʻo .
• Nā loea niho: E pili ana i nā niho a me ke olakino waha.
• Nā mea hoʻōla hana: Kōkua i nā kānaka e hana i nā hana o kēlā me kēia lā, e like me ka ʻai ʻana a me ke kākau ʻana, me ka maikaʻi.
• Nā mea hoʻōla kino: Kōkua i ka hoʻomaikaʻi ʻana i ka ikaika o ke kino a me ka neʻe ʻana.
• Nā mea hoʻōla ʻōlelo: Kōkua me nā pilikia a me nā lohi o ka ʻōlelo.

No kēlā mau hāʻule ʻana i ʻōlelo ʻia ma mua, hiki i ke kauka ke kuhikuhi i nā lāʻau anticonvulsant a i ʻole nā ​​​​lāʻau anti-anxiety. Pono paha ke ʻoki ʻana i nā kīnā iwi koʻikoʻi.

Hiki i kāu kauka ke ʻōlelo aku iā ʻoe e kiʻi i ka ʻōlelo aʻoaʻo genetic.

Hiki iaʻu ke pale aku i kēia mai ka hiki ʻana mai i kaʻu keiki?

ʻAʻole maopopo loa i nā kānaka ʻepekema ke kumu o kēia hoʻololi ʻana o ka genetic, a me ke kumu o nā mea i kapa ʻia ʻo 'nā hihia sporadic'. No laila, ʻaʻohe ala e pale aku ai i ka maʻi Coffin-Lowry i kēia manawa. He 50% ka manawa e hoʻoilina ai ka makuahine me kēia maʻi i kāna keiki i ke ʻano. Hiki i ka hoʻāʻo genetic prenatal ke ʻike i ke alo o kēia hoʻololi genetic i ka wā hāpai. Hiki i kāu kauka ke ʻōlelo aku i nā ʻohana pili e loaʻa i ka ʻōlelo aʻoaʻo genetic.

He aha ka mea e hana ʻia inā loaʻa iaʻu a i ʻole kaʻu keiki kēia maʻi? He aha ka mea e hiki mai ana?

I kēia manawa, ke noʻonoʻo nei paha ʻoe, "Auē, inā loaʻa kēia maʻi i kaʻu keiki, pehea lā kona wā e hiki mai ana?" ʻOiaʻiʻo, ʻaʻole like nā kānaka a pau me ka Coffin-Lowry Syndrome. ʻAʻole i hoʻopilikia iki ʻia kekahi, ʻoi aku ka nui o kekahi. No laila, ʻokoʻa ka mea e hiki mai ana no kēlā me kēia kanaka. Aia ia i nā ʻāpana o ke kino i hoʻopilikia ʻia a me ke koʻikoʻi o nā hopena.

ʻO ka mea nui loa, ʻoiai he keiki me kēia maʻi hiki iā ia ke holomua ma ke ola me ka maikaʻi loa o ko lākou hiki inā loaʻa iā lākou ke kākoʻo, ka mālama ʻana, a me ke aloha e pono ai.

Hiki i ka maʻi Coffin-Lowry ke hoʻoweliweli i ke ola?

Hiki i kēia maʻi ke hoʻopōkole i ka manaʻolana o ke ola i kekahi ʻano. Ua hōʻike kekahi mau noiʻi ma kahi o 13.5% o nā keikikāne a me 4.5% o nā kaikamahine me kēia maʻi e make ana, ma ka awelika, i ka makahiki 20.5. Eia naʻe, ʻaʻole kēia he mea maʻamau no nā kānaka a pau.

He aha hou aʻe kaʻu e nīnau ai i kaʻu kauka e pili ana i kēia?

Inā loaʻa iā ʻoe a i kāu keiki paha ʻo CLS, makemake paha ʻoe e nīnau i kāu kauka i nā nīnau e like me kēia:

• "He aha nā ʻāpana o ke kino o kaʻu/kaʻu keiki i hoʻopilikia ʻia e kēia maʻi?"
• "Aia kekahi mau hopena e hoʻoweliweli ana i ke ola mai kēia mau hopena?"
• "He aha ke ʻano o nā loea e pono ai mākou e ʻike? ʻEhia pinepine mākou e ʻike ai iā lākou?"
• "Ke paipai nei ʻoe i ka lāʻau lapaʻau a i ʻole ke ʻoki kino no kēia?"
• "Aia kekahi mau hui kākoʻo e hiki ke kōkua iā mākou e ola me kēia kūlana?"
• "Manaʻo ʻoe he manaʻo maikaʻi anei ka loaʻa ʻana o ke aʻoaʻo hoʻoilina i ko mākou kūlana?"
• "He manaʻo maikaʻi anei ka loaʻa ʻana o ka hoʻāʻo genetic no ke koena o ko mākou ʻohana?"

No laila, he aha nā mea nui loa e pono ai kākou e hoʻomanaʻo mai kēia mau mea a pau? (Leka Lawe-Home)

He maʻi laha ʻole ka Coffin-Lowry Syndrome (CLS) i hiki ke hoʻopilikia i nā ʻāpana he nui o ke kino. ʻOkoʻa nā hōʻailona mai kēlā kanaka a kēia kanaka, akā he mea maʻamau nā hiʻohiʻona o ka helehelena, nā kīnā iwi, a me nā kīnā noʻonoʻo.

ʻOiai ʻaʻohe lāʻau lapaʻau kūikawā no kēia, hiki iā ʻoe ke ʻimi i ke kōkua mai nā loea a me nā mea hoʻōla like ʻole e hoʻokele i kāu mau hōʻailona a ola i kou ola e like me ka hiki.

Inā kānalua ʻoe a ua ʻike ʻia paha ua loaʻa iā ʻoe kēia maʻi, e ʻoluʻolu e ʻimi i ke aʻo lapaʻau. E hāʻawi lākou iā ʻoe i ke alakaʻi a me ke kākoʻo āu e pono ai. E hoʻomanaʻo, ʻaʻole ʻoe hoʻokahi. Aia nā kumuwaiwai a me nā hui kākoʻo e hiki ke kōkua i nā ʻohana e hana nei me kēia mau maʻi.

ʻO Coffin-Lowry Syndrome, CLS, nā ʻano maʻi genetic, nā kīnā hānau, nā kīnā noʻonoʻo, nā kīnā iwi, nā hāʻule ʻana o nā kino