Ke hopohopo nei ʻoe no ka ulu ʻana o kāu keiki? E aʻo kākou e pili ana i ka Lamb-Shaffer Syndrome!

Ke manaʻo nei ʻoe i kekahi manawa ua lohi iki kāu keiki liʻiliʻi i ko lākou ulu ʻana? A i ʻole ke manaʻo nei ʻoe ua lohi lākou i ka hoʻomaka ʻana e ʻōlelo? I kekahi manawa, he mea maʻamau iā mākou ma ke ʻano he mau mākua ke hopohopo iki i ka wā e ʻike ai mākou i nā mea e like me kēia. I kēia lā, e kamaʻilio mākou e pili ana i kahi maʻi genetic kakaʻikahi loa e hōʻike ana i kekahi o kēia mau hōʻailona. Ua kapa ʻia ʻo Lamb-Shaffer Syndrome.

He aha ka Lamb-Shaffer Syndrome?

I ka ʻōlelo maʻalahi, ʻo ka Lamb-Shaffer Syndrome (LAMSHF) he maʻi genetic kakaikahi loa. Ke lohe ʻoe i ka huaʻōlelo 'genetic', e noʻonoʻo paha ʻoe, "Auē, he mea kēia e holo nei i loko o ka ʻohana?" E kamaʻilio mua kākou e pili ana i kēlā. Hiki i kēia maʻi ke hoʻopaneʻe i ka ulu ʻana o kahi keiki. ʻO ke ʻano kēia, he manawa pōkole no ka pēpē e noho a hele. Hiki iā ia ke hana i nā ʻano ʻōlelo ʻē a me ke kīnā noʻonoʻo . Loaʻa paha i kekahi mau keiki nā ʻokoʻa o ke ʻano . No ka laʻana, he hyperactive iki paha lākou a paʻakikī paha i ka hoʻolohe ʻana. ʻAʻole wale kēlā, akā i kekahi manawa e ʻike paha ʻoe i nā loli liʻiliʻi i ke ʻano o ka maka a i ʻole kekahi mau loli i ka ʻōnaehana iwi. Eia naʻe, ʻaʻole i loaʻa kēia mau ʻano āpau i kēlā me kēia keiki, a he ʻokoʻa paha lākou mai kekahi keiki a i kekahi.

Ua kapa ʻia kēia ʻo 'Lamb-Shafer' ma muli o nā kānaka noiʻi ʻelua i ʻike mua i ke kūlana i ka makahiki 2012. Mai ia manawa, ua hana ʻia nā noiʻi hou aʻe a me ka ʻike e pili ana i kēia kumuhana.

Akā, inā ʻoe e nīnau i ke ʻano maʻamau o kēia, he mea paʻakikī i nā kauka ke ʻōlelo pololei. No ka mea, he mea kākaʻikahi loa ia. A hiki i kēia manawa, ʻaʻole i emi iho ma mua o 100 mau hihia o kēia ʻano i hoʻopaʻa ʻia ma nā moʻolelo lapaʻau ma ka honua holoʻokoʻa. No laila, ʻaʻole ia he mea kupanaha inā ʻaʻole ʻoe i lohe i kēia ma mua.

He aha ke kumu o kēia maʻi? (E aʻo kākou e pili ana i ka gene SOX5)

ʻAe, e nānā kākou i ke kumu o kēia Lamb-Schafer Syndrome (LAMSHF). E like me kaʻu i ʻōlelo ai ma mua, he maʻi hoʻoilina kēia. Aia nā genes i loko o kēlā me kēia cell i loko o ko kākou kino. ʻAʻole wale kēia mau genes ka mea e hoʻoholo ai i ko kākou kiʻekiʻe, ke kala, a me ke ʻano o ka lauoho, akā kōkua pū lākou i ka hoʻomalu ʻana i nā hana like ʻole i loko o ko kākou kino. Ua like ia me kahi polokalamu i loko o kahi kamepiula.

Hoʻokumu ʻia ka maʻi Lamb-Schafer e kahi loli (mutation) i loko o kahi gene kikoʻī i loko o ko mākou kino. Ua kapa ʻia kēia gene ʻo ka gene `SOX5` . ʻO ka maʻamau, loaʻa i ke kanaka olakino ʻelua kope o kēia gene `SOX5` i loko o ko lākou kino, a hana pono lāua ʻelua. Eia nō naʻe, aia i kahi kanaka me ka maʻi Lamb-Schafer kahi ʻano pathogenic i loko o hoʻokahi kope o kēia gene `SOX5`., ʻo ia hoʻi he loli ʻino. Inā paha he maʻamau ke kope ʻē aʻe, ma muli o ka loli o kēia gene hoʻokahi e ʻike ʻia ai nā hōʻailona.

He gene koʻikoʻi ka gene `SOX5` e kōkua ana i ka hana ʻana o nā protein i loko o ko kākou kino (protein synthesis) a me ke kāohi ʻana i ka ulu ʻana o kekahi mau ʻano cell, ʻoi aku hoʻi i ka lolo a me ke kino . No laila, i ka wā e loaʻa ai kahi kīnā i loko o kēia gene, hiki ke hoʻopilikia ʻia nā kaʻina hana e pili ana iā ia. Ua maopopo iā ʻoe?

Nā Mutations De Novo a pehea i hoʻoilina ʻia ai lākou

I kēia manawa, ke noʻonoʻo nei paha ʻoe, "He mea anei kēia āu e loaʻa ai mai kou mau mākua mai?" ʻO ka hapa nui o ka manawa, ʻo ia hoʻi, ʻo ka hapa nui o nā keiki me ka maʻi Lamb-Schafer e loaʻa ana i ke ʻano ma muli o kahi mutation hou (de novo mutation). ʻO ke ʻano o 'De novo' ʻo ia hoʻi 'hou'. I ka ʻōlelo maʻalahi, hiki i nā mākua ʻelua ke loaʻa nā kope olakino o ka gene 'SOX5' i loko o ko lākou mau hunaola kino. Eia naʻe, i ka manawa o ka hāpai ʻana, hiki ke hana ʻia kahi mutation i loko o ka gene 'SOX5' ma ka sperm a i ʻole ka hua manu. ʻAʻole hewa kēia na kekahi. He mea kūlike kēia.

Eia nō naʻe, he kakaikahi loa (ma kahi o 15%) o nā keiki, ma kahi o 15 mai loko mai o 100, i loaʻa i kēia maʻi no ka mea he kakaikahi wale nō o nā cell germ (sperm a i ʻole nā ​​​​hua manu) o kekahi o nā mākua i loaʻa ka mutation gene SOX5. ʻO ke ʻano kēia ʻaʻole i loaʻa i nā cell ʻē aʻe i loko o ke kino o ka makuahine a i ʻole ka makuakāne kēia mutation, no laila ʻaʻole hōʻike kēlā mau mākua i nā hōʻailona o ka Lamb-Schafer syndrome. Eia naʻe, ʻo kekahi wale nō o kā lākou mau cell germ e loaʻa paha kēia loli. Ua kapa ʻia kēia ʻo "germline mosaicism". He mea paʻakikī iki ia, akā hiki i nā kauka ke wehewehe hou aku iā ʻoe.

ʻOi aku ka kakaikahi, hiki i kahi keiki ke hoʻoilina i ke kūlana mai kahi makua i loaʻa i ka maʻi Lamb-Schafer. Inā hana ʻia kēlā, he 50% ka manawa e loaʻa ai i kēlā keiki ke kūlana. ʻO ke ʻano kēia, hoʻokahi i loko o ʻelua mau keiki e loaʻa paha ia mea, a ʻaʻohe paha.

He aha nā hōʻailona? Pehea ʻoe e ʻike ai?

ʻAe, e nānā kākou i nā hōʻailona āu e ʻike ai i loko o kahi keiki me ka Lamb-Schafer Syndrome (LAMSHF). E hoʻomanaʻo, ʻaʻole e loaʻa kēia mau hōʻailona āpau i kēlā me kēia keiki, aia paha kekahi o nā hōʻailona, ​​a i ʻole e ʻokoʻa paha ka ikaika o nā hōʻailona.

ʻO ka pinepine, ʻo nā hōʻailona mua e ʻike ʻia, ʻo ia ka lohi o ka ʻōlelo a me nā mākau neʻe. ʻO nā mākau neʻe e komo pū me nā mea e like me ke noho ʻana i luna, ke kolo ʻana, a me ka hele wāwae. Hiki ke lōʻihi iki kēia no kāu pēpē e hana ai. Hiki i nā pēpē ʻōpio ke loaʻa i ka leo haʻahaʻa o nā ʻiʻo (hypotonia) , ʻo ia hoʻi he kino palupalu paha ko lākou.

Nā hōʻailona i ʻike pinepine ʻia

I ka ulu ʻana o ke keiki, e ʻike paha ʻoe i nā hōʻailona hou aʻe. ʻO kekahi o kēia mau mea:

• Ka lohi o ka ulu ʻana o ka ʻōlelo: Loaʻa paha i kekahi mau keiki ka pilikia i ka hoʻopili ʻana i nā huaʻōlelo a me ka hana ʻana i nā ʻōlelo. Hiki i kekahi ke hoʻomaka e ʻōlelo ma hope loa.
• Ka pōkole o ka nānā ʻana:Hiki ke paʻakikī ke kau i ka manaʻo ma kahi mea no ka manawa lōʻihi. Hiki iā ʻoe ke hoʻohuli maʻalahi ʻia.
• Hyperactivity: Paʻakikī ke noho ma kahi hoʻokahi, hiki ke loaʻa ke ʻano o ka holo a puni a pāʻani mau.
• Ke kīnā noʻonoʻo: Aia paha kekahi pilikia i ke aʻo ʻana i nā mea hou, ka hoʻomanaʻo ʻana i nā mea, a me ka hoʻoponopono ʻana i nā pilikia. ʻOkoʻa ke ʻano o kēia mai kēlā kanaka a kēia kanaka.
• Nā ʻano hoʻohālikelike: I kekahi manawa e ʻike paha ʻoe i kāu keiki e hana ana i ke ʻano neʻe like (e like me ke kīkēkē ʻana i ko lākou mau lima a i ʻole ke lulu ʻana i ko lākou poʻo) i nā manawa he nui. He mau mea kēia a lākou e hana ai me ke kaohi ʻole.
• Kaʻawale ʻana o ka nohona: Loaʻa paha ka nele o ka hoihoi i ka launa pū ʻana, ka pāʻani ʻana, a i ʻole ke kamaʻilio ʻana me nā poʻe ʻē aʻe.
• Nā huhū huhū: He paʻakikī i kekahi mau keiki ke kāohi i ko lākou mau manaʻo, no laila hiki iā lākou ke huhū pinepine a me ka huhū .
• Nā pilikia maka: Loaʻa paha i kekahi mau keiki ka strabismus , kahi ʻano o ke ʻano o ka maka kea, a i ʻole nā ​​hewa refractive , e like me ka nearsightedness a i ʻole astigmatism, kahi e pono ai nā aniani.

ʻAʻole nā ​​keiki a pau me hoʻokahi a ʻelua paha o kēia mau hōʻailona i loaʻa i ka maʻi Lamb-Schafer, ʻo ia ke kumu he mea nui e ʻimi i ke kōkua lapaʻau.

ʻO kekahi mea ʻē aʻe, ʻo ia hoʻi, hoʻokahi o nā keiki he 10 me ka maʻi Lamb-Schafer e loaʻa paha i nā ʻōʻō . Akā, ʻaʻole pēlā ka hihia no nā kānaka a pau.

Nā loli ma ka helehelena a me ke kino

Hiki i kekahi mau keiki ke loaʻa nā loli kikoʻī i ke ʻano o ko lākou helehelena a me nā iwi kino. Eia naʻe, ʻaʻole paha e ʻike nui ʻia kēia mau loli, a hiki ke ʻike ʻia e ke kauka wale nō.

• Ihu ākea
• Lae i ʻike nui ʻia ('frontal bossing')
• ʻAuwae liʻiliʻi a ʻauwae paha
• Strabismus (maka keʻa)
• Lehelehe luna lahilahi a i ʻole nā ​​lehelehe piha ʻole
• Ka hui ʻana o kekahi a ʻoi aku paha o nā iwi ma ka ʻāʻī
• Ke kūpikipikiʻana i mua o ka iwi kuamoʻo (kyphosis)
• Piʻo kūpono ʻole i ko lākou iwi kuamoʻo (scoliosis)

Ke ʻike ʻia nā hōʻailona e like me kēia, hana nā kauka i nā hoʻokolohua hou aʻe e hoʻoholo i ke kumu.

Pehea ʻoe e ʻike pono ai i kēia? (Diagnosis)

Hoʻohana nā kauka i ka hoʻāʻo ʻana i ka genetics e hoʻoholo ai inā loaʻa i kahi keiki ka Lamb-Schafer syndrome (LAMSHF). No ka laʻana, inā lohi ka ʻōlelo a i ʻole ka hele ʻana o kahi keiki, a inā he mau loli liʻiliʻi i ke ʻano o ka maka a i ʻole ka ʻōnaehana iwi, hiki i nā kauka ke ʻōlelo aku i kēia ʻano hoʻāʻo genetic.

ʻO kēia hoʻāʻo hoʻoilina wale nō ke ala e hoʻoholo pololei ai inā he mutation i loko o ka gene `SOX5` i ʻōlelo ʻia ma mua. He hoʻāʻo maʻamau kēia i hana ʻia ma kahi hāpana koko.

Hiki iā ʻoe ke ʻike iā ia i ka wā hāpai?

ʻO ka hapa nui o ka manawa, ʻaʻole i hoʻāʻo ʻia nā kānaka a pau no ka maʻi Lamb-Schafer i ka wā hāpai. ʻO kēia no ka mea he maʻi kakaikahi loa ia. Eia nō naʻe, inā ʻike ʻia ka makuahine a i ʻole kekahi lālā o ka ʻohana pili he mutation i loko o ka gene `SOX5`, a inā paha he Lamb-Schafer syndrome kekahi o ka ʻohana , hiki i nā kauka ke kuhikuhi i ka hoʻāʻo ʻana no ke kūlana i ka wā hāpai. I ia mau hihia, hiki ke hana ʻia kahi hoʻāʻo e like me `(amniocentesis)` ma ke ʻōlelo aʻo a kekahi loea.

He aha nā lāʻau lapaʻau?

ʻAʻohe lāʻau lapaʻau kūikawā no ka maʻi Lamb-Schafer (LAMSHF) i kēia manawa, ʻo ia hoʻi hiki iā ia ke ho'ōla loa i ka maʻi. Eia naʻe, ʻaʻole ia he manaʻo ʻaʻole hiki iā mākou ke hana i kekahi mea. ʻO ka pahuhopu nui o ka lāʻau lapaʻau, ʻo ia ka hoʻomaikaʻi ʻana i ke ʻano o ke ola o ke keiki a kōkua iā ia e hana i nā hana o kēlā me kēia lā.

Hiki i kēia ke komo pū me nā ʻano lapaʻau a me nā lawelawe like ʻole. Eia kekahi laʻana:

• Hoʻoponopono hoʻokele ʻano: Kōkua kēia i ka hōʻemi ʻana i ke ʻano kūpono ʻole o ke keiki a paipai i ke ʻano maikaʻi.
• Nā Papahana Hoʻonaʻauao Pilikino (IEP) a i ʻole nā ​​Lawelawe Hoʻonaʻauao Kūikawā: Kōkua kēia mau papahana i ka hoʻonaʻauao ʻana i nā keiki kula i hana ʻia no kā lākou mau pono aʻo.
• Hoʻōla ʻōlelo: He mea nui loa kēia no nā keiki i loaʻa ka pilikia ʻōlelo e hoʻomaikaʻi i kā lākou mākau kamaʻilio.
• Hoʻōla kino: Loaʻa i nā keiki me nā pilikia kua (e like me ka scoliosis a me ka kyphosis) nā hoʻomaʻamaʻa e hoʻomaikaʻi i ko lākou kūlana, hoʻoikaika i ko lākou mau ʻiʻo, a me nā mea kōkua hele wāwae paha.
• ʻŌlelo aʻoaʻo genetic: Kōkua kēia i nā mākua e hoʻomaopopo i ke kūlana o ke keiki, e hoʻomaopopo iā lākou i ka ʻike hou, a kamaʻilio me nā ʻohana ʻē aʻe e pili ana i nā pilikia o ke kūlana.
• Nā loiloi ophthalmological: He mea nui e ʻike i kahi ophthalmologist e mālama i nā pilikia maka.
• Nā loiloi neurological: Hiki i kahi neurologist ke kōkua me nā pilikia e pili ana i ka ʻōnaehana nerve, e like me ka hopu ʻana a me nā mea ʻino o ke ala.
• Nā loiloi Orthopedic: ʻO nā pilikia e pili ana i ka ʻōnaehana iwi, e like me ka scoliosis, pono paha ke kōkua o ke kauka orthopedic.

Hana ʻia kēia mau mea a pau e kōkua i ke keiki e ola i ke ola maikaʻi a ʻoluʻolu hoʻi.Ma muli o ka ʻokoʻa o nā pono lapaʻau o kēlā me kēia kanaka, e hana pū kahi hui o nā kauka e hoʻoholo i ka mea maikaʻi loa no ke keiki.

E pilikia pū anei nā keiki e hiki mai ana?

Inā ʻike ʻoe he ʻano hoʻololi gene `SOX5` ko ʻoe a i ʻole kekahi o kou ʻohana, a ke kali nei ʻoe i kahi keiki ʻē aʻe, he manaʻo maikaʻi ia e ʻike i kahi kākāʻōlelo genetic . Hiki iā ia ke wehewehe iā ʻoe i nā manawa kūpono e hoʻoili ai i ke ʻano i nā keiki e hiki mai ana, a pehea e pili ai iā ʻoe a me kāu keiki inā hana ʻoe. E kōkua kēia iā ʻoe e hana i nā hoʻoholo naʻauao.

Pehea lā ke ʻano o ke ola me kēia maʻi? (Hopena lōʻihi)

Wahi a ka ʻike o kēia manawa, ʻaʻole ʻike ʻia ka maʻi Lamb-Schafer (LAMSHF) e hoʻopilikia i ka manaʻolana ola o ke kanaka. He mea hōʻoluʻolu iki kēlā, ʻeā? Eia nō naʻe, hiki ke ʻokoʻa ka noho ʻana me kēia maʻi mai kēlā kanaka a kēia kanaka, me nā ʻano like ʻole o ke ʻano o ke ola.

ʻAʻole hiki i kekahi poʻe ke hana kūʻokoʻa i kā lākou hana. Ma muli o ko lākou hiki ke noʻonoʻo, pono paha lākou i ke kākoʻo o kahi mea mālama i ko lākou ola a pau. Eia nō naʻe, me ka mālama kūpono a me ke kākoʻo, hiki iā lākou ke ola i nā ola hauʻoli a waiwai hoʻi.

Nā mea e nīnau aku ai i kāu kauka

Inā he mau nīnau kāu e pili ana i kāu keiki a i ʻole kēia maʻi, mai makaʻu e nīnau i kāu kauka a kahu maʻi paha. Hiki iā ʻoe ke nīnau i nā mea e like me:

• He aha nā hōʻailona o ka maʻi Lamb-Schafer?
• He aha nā hoʻokolohua e pono iaʻu e hana e ʻike pono ai inā loaʻa kēia maʻi i kaʻu keiki?
• He aha nā koho lapaʻau e loaʻa ana?
• Inā loaʻa iaʻu kekahi keiki ʻē aʻe, he aha nā manawa kūpono e loaʻa ai iā ia kēia maʻi?

He mea nui loa ka nīnau ʻana i nā nīnau e like me kēia a hoʻoponopono i nā pilikia i loko o kou manaʻo.

Leka Lawe-Home

He maʻi laha ʻole ka Lamb-Shaffer Syndrome (LAMSHF). Hiki iā ia ke hoʻopaneʻe i ka ulu ʻana, nā kīnā noʻonoʻo, a me nā loli o ka helehelena i nā keiki. Loaʻa paha i kekahi mau keiki nā pilikia kua.

ʻOiai ʻaʻohe lāʻau lapaʻau no kēia, aia nā ʻano lāʻau like ʻole (e like me ka hoʻōla ʻōlelo, ka hoʻōla ʻano, a me ka hoʻonaʻauao kūikawā) e hoʻomaikaʻi i nā hiki o ke keiki a me ke ʻano o ke ola.

I kēia manawa, ua manaʻo ʻia ʻaʻohe hopena o kēia kūlana i ke ola o ke kanaka. Eia nō naʻe, pono paha kekahi mau keiki i ka mālama ʻia no ke ola holoʻokoʻa. Inā he kānalua a hopohopo paha kāu e pili ana i kēia, e ʻimi koke i ke kōkua lapaʻau. ʻO ia ka mea maikaʻi loa e hana ai.

ʻO ka maʻi Lamb-Shaffer, LAMSHF, ka gene SOX5, ka maʻi genetic, ka lohi o ka ulu ʻana, nā pilikia ʻōlelo, ke kīnā noʻonoʻo