Loaʻa i kāu keiki kēia mau hōʻailona? E aʻo kākou e pili ana i ka Cohen Syndrome.

Ua noʻonoʻo paha ʻoe no ke aha e ʻokoʻa ai ke ʻano a me ka ulu ʻana o kekahi mau keiki ma mua o nā poʻe ʻē aʻe? I kekahi manawa, hiki i nā mea liʻiliʻi ke loaʻa kahi moʻolelo nui ma hope o lākou. I kēia lā, e kamaʻilio mākou e pili ana i kahi maʻi genetic e hoʻopilikia i nā mea he nui i nā keiki, e like me ko lākou helehelena, ulu ʻana, a me ka ikaika o nā ʻiʻo. Ua kapa ʻia kēia maʻi ʻo Cohen Syndrome.

He aha ka Cohen Syndrome?

I ka ʻōlelo maʻalahi, ʻo Cohen Syndrome kahi maʻi i hoʻokumu ʻia e kahi hoʻololi genetic. Hiki iā ia ke hoʻopilikia i nā ʻāpana he nui o ke kino, me ka ʻike, ka ulu ʻana o ke keiki, ke kani ʻana o nā ʻiʻo, a me nā hiki ke noʻonoʻo. Hiki iā ia ke hana i nā hōʻailona kino e like me ke poʻo liʻiliʻi, ka lauoho mānoanoa, a me ke kino pōkole.

Loaʻa i nā keiki i hānau ʻia me kēia maʻi ka lohi o ka ulu ʻana . ʻO ke ʻano kēia, ʻo nā mea e like me ka ʻōwili ʻana, ka hele wāwae ʻana, a me ke kamaʻilio ʻana e lohi paha ma mua o ka mea i manaʻo ʻia. Eia kekahi laʻana, ʻoiai e ʻōwili ana paha ka pēpē a kāu hoaaloha i ʻeono mahina, hiki i kahi pēpē me kēia maʻi ke lōʻihi. Eia naʻe, me kēia mau lohi, he ʻoluʻolu loa kēia mau keiki, hauʻoli, a launa pū. He aloha nui lākou i ka wā e minoʻaka a kamaʻilio ai lākou.

Hoʻokumu ʻia kēia e kahi hoʻololi genetic, a ʻaʻohe lāʻau lapaʻau i kēia manawa. ʻOiai ʻo ka hapa nui o ka poʻe me Cohen Syndrome e ola nei i kahi ola maʻamau, pono lākou i kekahi kākoʻo i ko lākou ola a pau.

Pehea ka maʻamau o kēia ʻano i kapa ʻia ʻo Cohen Syndrome?

ʻO ka ʻoiaʻiʻo, ʻaʻole maʻamau ka maʻi Cohen Syndrome. Manaʻo kekahi mau noiʻi ua emi ma mua o 1,000 mau kānaka ma ka honua holoʻokoʻa i ʻike ʻia me ke ʻano. Eia nō naʻe, ʻoiai ʻaʻole i ʻike pinepine ʻia ke ʻano, ʻoi aku paha ka nui o ka helu maoli. No laila, he mea nui e makaʻala i kēia mau ʻano.

He aha nā hōʻailona o ka Cohen Syndrome?

Aia kekahi mau hōʻailona a me nā ʻōuli o ka Cohen Syndrome. He mea nui e hoʻomanaʻo ʻaʻole e loaʻa i nā kānaka a pau nā ʻōuli a pau. E nānā kākou i nā ʻōuli nui e ʻike ʻia:

• Nā pilikia ulu ʻana o ka noʻonoʻo: ʻO ke ʻano kēia, he manawa lōʻihi iki ka manawa e aʻo ai a hoʻomaopopo i nā mea. Pono paha ʻoe i ke kōkua hou aku me nā hana kula.
• Ka nāwaliwali o nā ʻiʻo (hypotonia): He manaʻo o ka nāwaliwali a i ʻole ka palupalu i ke kino. Hiki ke ʻike ʻia kēia ʻoiai i ka wā e hāpai ana i kahi pēpē.
• Hypermobility: ʻOi aku ka maʻalahi o nā hono. Hiki i kekahi mau keiki ke kulou i ko lākou mau lālā ma nā ʻano ʻē.
• ʻO ka myopia (ʻike kokoke) e piʻi aʻe me ka ʻelemakule: ʻIke i nā mea kokoke akā ʻaʻole ʻike maopopo i nā mea mamao. Piʻi kēia me ka ʻelemakule, no laila he mea nui e hana i nā hoʻokolohua maka maʻamau.
• ʻO ka dystrophy retinal a i ʻole chorioretinitis: Ka hōʻino ʻana i ka ʻāpana o ka maka e kōkua ana i ka ʻike. Hiki i kēia ke alakaʻi i ka nalowale mālie o ka ʻike.

Nā hōʻailona e ʻike ai nā pēpē hānau hou

Hiki iā ʻoe ke ʻike i nā mea e like me kēia i nā pēpē hānau hou:

• Paʻakikī i ka hānai waiū: Paʻakikī i ka hānai waiū ʻana i ka pēpē.
• Uē nāwaliwali a kiʻekiʻe paha: ʻOkoʻa paha ka uē ʻana o ka pēpē, nāwaliwali ma mua o ka maʻamau.
• Nā pilikia hanu: He pilikia ka pēpē i ka hanu ʻana.
• Ka paʻakikī o ka loaʻa ʻana o ke kaumaha: ʻAʻole e loaʻa pono ana ke kaumaha o ke pēpē.

He mea nui loa: Inā pilikia kāu pēpē i ka hanu ʻana a i ʻole ke ʻano nei e polū ana, e kelepona koke i ka 119 a i ʻole kāu helu ulia pōpilikia kūloko a lawe iā ia i ka haukapila.

Nā lohi a me ke ʻano o ka ulu ʻana

Pono paha nā keiki i ka manawa hou aʻe e aʻo a hoʻomohala ma mua o nā poʻe ʻē aʻe o ko lākou mau makahiki. Hiki ke hoʻomaka kēia lohi ulu ʻana i ka wā kamaliʻi. No ka laʻana, hiki ke lohi nā mea e like me ka ʻōwili ʻana a me ka noho ʻana i luna ma o lākou iho. Hiki i kāu keiki ke hoʻomaka e hele ma hope o 2 mau makahiki, akā ma mua o 5 mau makahiki. Hiki nō hoʻi ke lōʻihi ka manawa no lākou e hoʻomaka ai e kamaʻilio.

ʻOiai hiki i kēia kūlana ke hoʻoulu i kekahi mau pilikia pili i ka hana , e like me ka mea i ʻōlelo ʻia ma mua, he nui nā keiki e launa pū ana a hauʻoli hoʻi. Makemake lākou e launa pū a pāʻani me nā poʻe ʻē aʻe.

Akā e hoʻomanaʻo, ʻaʻole like kēia mau hōʻailona i nā keiki a pau. ʻAʻole paha i loaʻa i kekahi mau keiki kēia mau hōʻailona a pau.

He aha nā hōʻailona kino o ka Cohen Syndrome?

Aia kekahi mau hiʻohiʻona helehelena a me ke kino maʻamau i ʻike ʻia i nā keiki me Cohen Syndrome. ʻIke ʻia kekahi o kēia mau mea i ka wā hānau, a ʻike ʻia kekahi i ko lākou wā ʻelemakule.

Nā hiʻohiʻona helehelena:

• Microcephaly: ʻO ke poʻo i liʻiliʻi ma mua o ka maʻamau.
• Lauoho mānoanoa, kuʻemaka mānoanoa, a me nā makamaka lōʻihi.
• Nā maka e hiolo ana i lalo (nā māwae palpebral e like me ka nalu): He ʻano nalu ko nā lihilihi.
• Wēlau ihu poepoe.
• Ka mamao pōkole ma waena o ka ihu a me ka lehelehe luna (philtrum).
• Nā niho luna e puka mai ana.
• Nā pepeiao nui.

E ʻike nui ʻia kekahi o kēia mau ʻano i ka wā e ʻelemakule ai ke keiki, ma hope o 5 mau makahiki.

Nā ʻano kino ʻē aʻe:

Eia kekahi, hiki ke ʻike pinepine ʻia nā hōʻailona kino ʻē aʻe i ka wā kamaliʻi a ma hope aku. ʻO kēia mau mea:

• Ka waiho ʻana o ka momona maʻamau ʻole ma ka ʻāpana o ke kino a me ka lahilahi ʻana o nā lālā: ʻO ke ʻano kēia, e nui aʻe ana ka ʻāpana waena o ke kino (a puni ka ʻōpū) a e lahilahi nā lālā.
• Kino pōkole.
• Ka lohi o ka wā ʻōpiopio.
• Nā testicles i iho ʻole i nā keikikāne.
• Ke kūlou ʻana o ka iwi kuamoʻo (scoliosis a i ʻole kyphosis).

He aha nā kūlana ʻē aʻe e hiki ke hana me ka Cohen Syndrome?

ʻO nā keiki i loaʻa i ka Cohen Syndrome, ʻoi aku ka nui o ka pilikia o ka loaʻa ʻana o nā maʻi ʻē aʻe e hoʻopilikia ai i kā lākou ʻōnaehana pale. He mea nui hoʻi e makaʻala i kēia mau mea.

• ʻO Neutropenia: ʻO kēia ka emi ʻana o kahi ʻano o nā hunaola koko keʻokeʻo (i kapa ʻia he neutrophils) i loko o ke kino. Ke kaua nei kēia mau neutrophils i nā germs a me nā maʻi e komo i loko o ko mākou kino. No laila, ke haʻahaʻa kēia mau mea, hiki iā mākou ke maʻi maʻalahi. Hiki iā mākou ke loaʻa pinepine i nā kuni, nā anu, a me nā maʻi ʻē aʻe.
• Nā kūlana Autoimmune: ʻO ke ʻano kēia, hoʻouka ka ʻōnaehana pale ponoʻī o ke kino i nā hunaola olakino i loko o ke kino. E noʻonoʻo iā ia me ko mākou pūʻali koa ponoʻī e hoʻouka mai ana iā mākou. ʻO nā laʻana e komo pū me ka maʻi diabetes mellitus , ka maʻi thyroid, a me ka maʻi celiac (kahi allergy i ka protein gluten).

He aha ke kumu o ka Cohen Syndrome?

Hoʻokumu ʻia ka Cohen Syndrome e kahi mutation i loko o ka gene VPS13B (ʻike ʻia hoʻi ʻo ka gene COH1) . I ka ʻōlelo maʻalahi, he kīnā ia i loko o kahi gene i loko o ko mākou kino.

E noʻonoʻo, i loko o ko kākou kino, aia kahi mea i kapa ʻia ʻo ka mea hana Golgi . Ua like ia me kahi hale hana hoʻopili protein. Ke hana ʻia kahi protein hou, hoʻouna ko kākou kino i nā mea maka i ka mea hana Golgi, kahi e hana ʻia ai kekahi mau hoʻololi a hoʻohui ʻia me nā protein like ʻē aʻe e hoʻokaʻawale iā lākou. Ma hope o ka hana ʻia ʻana o kēia mau hoʻololi, hoʻopili ka mea hana Golgi i nā protein me kā lākou mau kuhikuhi a hoʻouna iā lākou i ko lākou wahi kūpono.

Hana kūikawā ka gene VPS13B i ka glycosylation , ʻo ia ke kaʻina hana e hoʻopili ʻia ai nā mole kō i nā protein. Kōkua pū ia i ka hoʻonohonoho ʻana a me ka hoʻouna ʻana i nā hōʻailona i nā neurons a me nā hunaola momona (adipocytes) .

No laila, i ka wā e loli ai ka gene VPS13B, ua like ia me ka hiki ʻole i kēlā hale hana ke hana pono. ʻO ia hoʻi, ʻaʻole hiki iā ia ke hana i nā huahana maikaʻi. ʻO ia ka mea e alakaʻi ai i nā hōʻailona o Cohen Syndrome.

He maʻi hoʻoilina anei ka Cohen Syndrome?

ʻAe, he maʻi hoʻoilina ʻo Cohen Syndrome. Hoʻoili ʻia ke ʻano ma ke ʻano autosomal recessive.Inā he mea paʻakikī iki kēia e hoʻomaopopo, e noʻonoʻo i kēia ʻano: Loaʻa i ke keiki ke kūlana ke hoʻoilina lākou i ʻelua kope o ka gene kīnā i hoʻokumu ai (hoʻokahi mai ko lākou makuahine a hoʻokahi mai ko lākou makuakāne). Hiki i nā mākua hānau ke lilo i mea lawe o ka gene. ʻO ia hoʻi, ʻaʻole lākou i loaʻa i ke kūlana no ka mea hoʻokahi wale nō kope kīnā o ka gene i loaʻa iā lākou. He olakino kekahi kope. Eia nō naʻe, inā hui pū nā mea lawe ʻelua, aia kahi manawa e loaʻa ai i kā lākou keiki ke kūlana.

ʻO wai ka mea i pilikia nui no kēia?

Hiki i ka Cohen Syndrome ke hoʻopilikia i kekahi. Eia nō naʻe, ʻoi aku ka maʻamau o ke ʻano i kekahi mau hui o ka poʻe. Eia kekahi laʻana:

• ʻO ka poʻe ʻAmish
• Poʻe Finnish
• Nā kānaka o ka lāhui Helene (Mediterranean)
• Nā kānaka o ka ʻohana ʻIlelani

ʻOiai ʻaʻole kēia he mea kūikawā iā mākou ma Sri Lanka, he mea maikaʻi ke ʻike.

He aha nā pilikia e hiki ke loaʻa mai ka Cohen Syndrome?

Hiki i ka Cohen Syndrome ke hoʻoulu i nā pilikia ma hope nei:

• Nā maʻi pinepine, e like me nā maʻi pepeiao waena (otitis media) (ma muli o ka pale ʻana haʻahaʻa ma muli o ka neutropenia)
• Nā pilikia olakino niho a me ka waha e like me ka gingivitis a me nā ʻeha canker .
• Ke hoʻonui nei i nā pilikia maka .
• Ke kīnā noʻonoʻo ma nā pae like ʻole.

Pehea e ʻike ʻia ai ka Cohen Syndrome?

Hiki i ke kauka ke ʻike i ka Cohen Syndrome ma hope o ka hoʻokolokolo kino a me nā hoʻokolohua ʻē aʻe. Ma ke ʻano he makua, inā manaʻo ʻoe ʻaʻole i hiki kāu keiki i nā pae hoʻomohala kūpono no ko lākou mau makahiki (e.g., ʻaʻole minoʻaka, ʻaʻole pane i nā leo, ʻaʻole ʻōwili, ʻaʻole kamaʻilio e like me nā keiki ʻē aʻe), e ʻike i ke kauka o kāu keiki. He hōʻailona mua paha kēia o ke kūlana.

Hiki ke paʻakikī ke ʻike ʻana i ka Cohen Syndrome i kekahi manawa no ka mea hiki ke like kona mau hōʻailona me nā kūlana ʻē aʻe he nui. Hiki i nā hoʻokolohua ke kōkua i kāu kauka e kāpae i kēia mau kūlana. Hiki i kahi hoʻokolohua koko genetic ke ʻike i ka mutation gene nona ke kuleana no kēia mau hōʻailona.

Pehea e mālama ʻia ai ka Cohen Syndrome?

ʻAʻohe lāʻau lapaʻau no Cohen Syndrome i kēia manawa. ʻO ke kumu nui o ka lāʻau lapaʻau ʻo ia ka mālama ʻana i nā hōʻailona a me ke kōkua ʻana i ke keiki e ola maikaʻi loa. Hiki i kēia ke komo pū me:

• Nā papahana hoʻonaʻauao hana komo mua: Nā papahana kūikawā e kōkua i ka ulu ʻana a me ke aʻo ʻana o kahi keiki.
• Hoʻōla hana: Lapaʻau e kōkua iā ʻoe e hana i nā hana o kēlā me kēia lā (e like me ka ʻai ʻana, ke kapa ʻana, a me ka pāʻani ʻana) me ke kūʻokoʻa.
• Hoʻōla kino: Lapaʻau e kōkua ai i ka hoʻomaikaʻi ʻana i ka neʻe ʻana o ke kino a me ka ikaika o nā ʻiʻo. He mea nui loa kēia no ka hypotonia.
• Lapaʻau ʻōlelo: He lāʻau lapaʻau e kōkua ai i ka hoʻomohala ʻana i ka hiki ke ʻōlelo a kamaʻilio me nā poʻe ʻē aʻe.
• Ke kau nei i nā aniani maka a i ʻole ke aʻo ʻana i ka ʻike haʻahaʻa.

ʻO ka maʻamau, mālama ʻia ka Neutropenia e pili ana me Cohen Syndrome me ka inikini subcutaneous o kahi lāʻau i kapa ʻia ʻo Granulocyte-Colony Stimulating Factor (G-CSF) . Hoʻoulu kēia i ka iwi iwi e hana i nā hunaola koko keʻokeʻo hou aʻe, kahi e hōʻemi ai i ka pilikia o ka maʻi.

Inā loaʻa pinepine nā maʻi i kāu keiki, e kuhikuhi ke kauka i nā lāʻau antibiotic e mālama iā lākou e like me ka mea e pono ai.

He aha ke kūlana o ke ola o kekahi kanaka me ka Cohen Syndrome?

No ka mea, ʻaʻole maʻamau ka maʻi Cohen Syndrome, ʻaʻohe hōʻike e hōʻike pololei ai pehea e pili ai i ke ola o ke kanaka. ʻOiai he nui ka poʻe me ke ʻano e ola nei i kahi ola maʻamau, ʻaʻole like nā kānaka a pau. Hiki i kēia ke hoʻopilikia i ke ola, ʻoiai inā loaʻa i kāu keiki nā maʻi ʻē aʻe e hoʻopilikia i ka ʻōnaehana pale (e like me nā maʻi pinepine a koʻikoʻi).

He aha ka wānana no ka Cohen Syndrome?

Hiki i ka Cohen Syndrome ke hoʻopilikia i nā ʻano he nui o ke ola o kāu keiki. Eia nō naʻe, me ka mālama pono ʻana a me ka mālama aloha, he maikaʻi paha ka prognosis.

E paipai ke kauka i nā ʻano lāʻau like ʻole i kūpono i ko lākou mau hōʻailona. Hiki ke ʻokoʻa kēia mau mea mai kēlā kanaka a kēia kanaka. ʻO ka maʻamau, pili ka lāʻau lapaʻau i ka hoʻōla a me nā papahana hoʻonaʻauao. Kōkua kēia i ke keiki e hōʻea i nā pae hoʻomohala kūpono no ko lākou mau makahiki.

Hiki i kāu keiki ke hoʻopilikia ʻia e nā pilikia ʻike a me nā pilikia niho. Hoʻomaka pinepine kēia i ka wā e hiki ai lākou i ke kula. No laila, e hoʻomau i ka ʻike ʻana i kahi loea mālama maka , kauka niho, a me nā mea mālama ola kino ʻē aʻe i ʻōlelo ʻia e nānā i kā lākou mau hōʻailona i ko lākou ulu ʻana.

Hiki ke pale ʻia ka Cohen Syndrome?

No ka mea, he maʻi hoʻoilina ka Cohen Syndrome, ʻaʻohe ala e pale aku ai . Inā ʻoe e hoʻolālā ana e hoʻomaka i kahi ʻohana, a loaʻa i kekahi o kou ʻohana kēia maʻi hoʻoilina, a inā makemake ʻoe e ʻike e pili ana i kou pilikia o ka loaʻa ʻana o kahi keiki me kahi maʻi hoʻoilina e like me Cohen Syndrome, he mea nui loa ia e kamaʻilio me kāu mea mālama hāpai a mea mālama ola paha e pili ana i ka hoʻāʻo/aʻoaʻo ʻana i ka hoʻoilina .

Āhea wau e ʻike ai i ke kauka?

Ma ke ʻano he kahu mālama o kāu keiki, ʻike maikaʻi ʻoe iā ia. Inā ʻike ʻoe i kekahi mea ʻē a ʻano ʻē paha i kona ulu ʻana a i ʻole ka ulu ʻana, e kelepona i kāna kauka. Mai makaʻu e kamaʻilio e pili ana i ia mea, ʻoiai inā he mea liʻiliʻi wale nō.

E makaʻala pono i nā pae holomua o ka ulu ʻana o kāu keiki. He mea maʻamau no nā keiki i ʻike ʻia me Cohen Syndrome ke lōʻihi ka manawa e hiki ai i nā pae holomua e like me ka ʻōwili ʻana a me ka ʻōlelo ʻana i kā lākou mau ʻōlelo mua. Hiki i kāu kauka ke alakaʻi iā ʻoe i ke ʻano e kōkua ai i kāu keiki i kēia manawa.

Pilikia! Inā pilikia kāu keiki i ka hanu ʻana, a i ʻole he ʻili keʻokeʻo a polū paha a me nā kui, e kāhea koke aku i nā lawelawe ulia pōpilikia.

He aha nā nīnau e pono iaʻu e nīnau aku i kaʻu kauka?

I ke kamaʻilio ʻana me ke kauka e pili ana i kāu keiki, hiki ke kōkua i ka nīnau ʻana i nā nīnau e like me kēia:

• He aha kaʻu e hana ai inā ʻaʻole i loaʻa i kaʻu keiki nā pae hoʻomohala?
• He aha nā hōʻailona e pono iaʻu e makaʻala?
• He aha nā lāʻau lapaʻau āu e paipai nei?
• Aia kekahi mau hopena ʻaoʻao o ka lāʻau lapaʻau?
• Pehea e hiki ai iaʻu ke kōkua i kaʻu keiki e holomua ma ke kula?
• Aia kekahi mau hui makua a i ʻole nā ​​​​hui ʻē aʻe e hiki iā mākou ke kelepona aku no ke kākoʻo?

He Autism anei ʻo Cohen Syndrome?

ʻAʻole. He maʻi neurodevelopmental ka Autism Spectrum Disorder (ASD) . He maʻi genetic ka Cohen Syndrome. ʻAʻole like nā mea ʻelua. Eia nō naʻe, he nui nā keiki i ʻike ʻia me Cohen Syndrome e loaʻa paha nā hōʻailona like me ka autism (ASD) (e.g., nā pilikia pilikanaka, nā hana hana hou), a i ʻole he ASD paha me Cohen Syndrome. Hiki i ke kauka ke wehewehe pono i kēia.

ʻO ka mea hope loa, nā mea e hoʻomanaʻo ai (Leka Lawe-Home)

He mea maʻamau ke kaumaha a me ke kaumaha ke hiki ʻole kāu keiki i nā pae koʻikoʻi no ko lākou mau makahiki. Hiki nō hoʻi ke ʻoi aku ka hopohopo i ka wā e holo ai nā kauka i nā hoʻokolohua e ʻike ai i ka mea e hana nei. Eia nō naʻe, ʻoiai he maʻi kakaikahi ka Cohen Syndrome, ke aʻo hou nei nā kauka e pili ana i ke kūlana a pehea e hoʻokele ai i kēlā me kēia lā.

Hiki i nā papahana hana komo mua ke kōkua i kāu keiki e hoʻokō i kā lākou mau pahuhopu ulu, ʻoiai inā lōʻihi iki ia ma mua o nā poʻe ʻē aʻe i ko lākou mau makahiki. ʻOiai hiki i ka Cohen Syndrome ke hoʻopilikia i nā hiki noʻonoʻo o ke keiki, pono lākou i kou aloha, kākoʻo, a me ke kōkua i ko lākou ola a pau.

Mai noho mehameha.Aia nā kauka, nā mea hoʻōla, a me nā hui kākoʻo ʻē aʻe e kōkua iā ʻoe a me kāu keiki. E nīnau i kāu mau nīnau, e kaʻana like i kou mau manaʻo. Makemake mākou iā ʻoe i ka ikaika e hāʻawi i kāu keiki i ka mea maikaʻi loa!

ʻO Cohen Syndrome, Nā Maʻi Genetic, Lohi o ka Hoʻomohala ʻana, Ola Kino o ke Keiki, Neutropenia, Microcephaly, Hypotonia