Ke ʻeha nei kāu pēpē i ka ʻopa? E aʻo kākou e pili ana i ka Arthrogryposis Multiplex Congenita.

ʻAʻohe huaʻōlelo e wehewehe i ka hauʻoli a mākou e manaʻo ai ke nānā aku mākou i kahi pēpē hānau hou, ʻeā? Akā i kekahi manawa, hiki i kā mākou mau pēpē ke loaʻa nā pilikia olakino liʻiliʻi. I kēia lā e kamaʻilio mākou e pili ana i kahi maʻi i lohe pinepine ʻole ʻia, akā he mea nui loa ia e makaʻala. ʻO ia ke ʻano i kapa ʻia ʻo arthrogryposis.

He aha ka Arthrogryposis?

I ka ʻōlelo maʻalahi, ʻo Arthrogryposis Multiplex Congenita (AMC) kahi kūlana i hānau ʻia ai kahi pēpē me nā hui he nui i hiki ʻole ke kūlou a pololei paha . ʻO 'Artho' ke ʻano o ka hui, a ʻo 'gryposis' ke ʻano o ke kūlou ʻana a i ʻole ke kekee. ʻAʻole kēia he maʻi hoʻokahi, akā he hui o nā kūlana he 300 a ʻoi . No ka laʻana, hiki ke ʻike ʻia me nā maʻi ʻiʻo e like me Muscular Dystrophy a me nā kūlana genetic e like me Trisomy 18 - Edwards Syndrome.

I kēia manawa, ke ʻōlelo mākou 'ʻoʻoleʻa o ke ami', kapa nā kauka i kēia '(contracture)'. ʻO ia hoʻi, ua paʻa mau nā ʻiʻo, ka ʻili, a me nā tendon o ka pēpē '(tendons)' , no laila ua pōkole nā ​​​​ami, a ʻaʻole hiki iā lākou ke kūlou a kīkoʻo pono. E noʻonoʻo iā ia, ʻo nā ami nā wahi e like me ko mākou mau pulima, nā pūhaka, nā kuli, a me nā ʻāʻī. ʻO kēia mau ami ka mea e kōkua iā mākou e neʻe. No laila, i nā pēpē me ka arthrogryposis, paʻakikī kēia mau ami i ka neʻe pono ʻana. Hiki ke paʻakikī loa lākou, a i ʻole he kekee paha, a pololei paha a paʻa i hoʻokahi kūlana .

He aha nā hōʻailona kūikawā e hōʻike ai ke pēpē ma kēia kūlana?

He nui nā ʻano kūikawā o nā pēpē me ka arthrogryposis i ka wā hānau. Eia nō naʻe, hiki ke ʻokoʻa kēia mau ʻano mai kekahi pēpē a i kekahi, ʻoiai i loko o ka ʻohana hoʻokahi. ʻO nā ʻano maʻamau:

• Hoʻohaʻahaʻa ʻia nā poʻohiwi a hoʻohuli ʻia ke kino i loko.
• ʻO ka mea me ke kuʻekuʻe lima i hoʻolōʻihi ʻia (paʻakikī ke kūlou).
• ʻO ka mea me nā pulima a me nā manamana lima i kulou i loko a paʻa.
• Ua hemo paha nā iwi ʻūhā.
• ʻO ka mea me nā kuli i hohola ʻia.
• Ua hoʻohuli ʻia nā wāwae i lalo a i loko (e like me `(Clubfoot)`).
• Hiki ke kūlou ke kuamoʻo i kekahi ʻaoʻao (piʻo o ke kuamoʻo).

ʻAʻole like kēia mau hōʻailona no kēlā me kēia kanaka. Loaʻa paha i kekahi poʻe hoʻokahi a ʻelua paha o kēia mau mea, aʻo kekahi poʻe he nui. Eia kekahi, hiki iā ia ke hoʻopilikia i nā hono nui a me nā hono liʻiliʻi . ʻO ia hoʻi, hiki iā ia ke hoʻopilikia i nā mea āpau mai nā manamana lima a i nā poʻohiwi.

Aia kekahi mau ʻano nui o ka arthrogryposis?

ʻAe, ke kamaʻilio nui nei mākou e pili ana i ʻelua mau ʻano:

• (Amyoplasia) : Ma kēia , ʻo nā hono o nā lālā ka mea nui e hoʻopilikia ʻia .
• (Distal Arthrogryposis) : Ma kēia ʻano , ʻike ʻia ka ʻoʻoleʻa ma nā lima a me nā wāwae (nā hono distal) , a ʻaʻole i hoʻopilikia nui ʻia nā hono nui e like me nā poʻohiwi a me nā pūhaka.

Pehea ka maʻamau o kēia ʻano?

ʻAʻole ʻo Arthrogryposis kahi maʻi maʻamau . ʻO ka maʻamauLoaʻa ka manawa kūpono e hiki mai ai kēia ʻano ma kahi o hoʻokahi i loko o 3,000 mau hānau ola.

He mea hoʻoilina anei kēia? He mea anei ia i loaʻa mai nā hanauna mai?

He maʻi hānau ʻia ka Arthrogryposis. ʻO ia hoʻi, hoʻomaka nā hōʻailona ma mua o ka hānau ʻana . I nā hihia he nui , ʻaʻole ʻike ʻia ke kumu pololei . Eia nō naʻe, hiki ke hana ʻia e kahi maʻi genetic . Ua ʻike nā loea ma mua o 400 mau genes mutated e pili ana me ka arthrogryposis. Ua loaʻa pū iā lākou nā loulou i nā maʻi genetic he 35 a ʻoi .

He aha ka ʻokoʻa ma waena o ka arthrogryposis a me ka isolated congenital contracture?

He nīnau maikaʻi. ʻO ke ʻano o ka `(Isolated Congenital Contracture)` he ʻoʻoleʻa nā hono ma hoʻokahi wale nō ʻāpana o ke kino . Eia kekahi laʻana, ua ʻike anei ʻoe i kekahi mau pēpē i hānau ʻia me hoʻokahi wāwae i kūlou i loko? Ua kapa ʻia kēlā ʻo `(Clubfoot)`. ʻO ia hoʻi `(isolated congenital contracture)`. Akā i ka arthrogryposis, hiki ke loaʻa ka ʻoʻoleʻa o nā hono ma ʻelua a ʻoi aku paha mau ʻāpana o ke kino .

He aha ke kumu o ka arthrogryposis (AMC)?

I ka hapanui o nā hihia, ʻaʻole maopopo ke kumu kikoʻī o ka arthrogryposis . Eia nō naʻe, aia kekahi mau kumu maʻamau i manaʻo ʻia e kōkua i ke kūlana:

• Ua kaupalena ʻia ka hiki i ka pēpē ke neʻe i kona ulu ʻana i loko o ka ʻōpū . Hiki ke hana ʻia kēia ma muli o ka lawa ʻole o ka wai amniotic, ka loaʻa ʻana o kahi pēpē ʻē aʻe (e like me nā māhoe), a i ʻole ke ʻano ʻē o ka ʻōpū. Ke hiki ʻole i ka pēpē ke hoʻoneʻe pono i kona mau hono, kūkulu ʻia nā ʻiʻo keu a puni kēlā mau hono, e ʻūmiʻi ana iā lākou .
• ʻO kekahi mau kūlana olakino i loaʻa i ka makuahine hāpai . No ka laʻana, he maʻi e like me ka `(Multiple Sclerosis)`. Inā loaʻa i kekahi o kou ʻohana ka `(Multiple Sclerosis)`, hiki paha iā ʻoe ke piʻi aʻe ka pilikia.
• Nā maʻi hoʻoilina . No ka laʻana, nā kūlana e like me ka "Muscular Dystrophy".
• Nā maʻi o ka ʻōnaehana nerve waena . Hoʻokomo pū kēia i ka lolo a me ke kaula kuamoʻo. ʻO nā hiʻohiʻona e komo pū me nā maʻi e like me `(Moebius Syndrome)` a me `(Spina Bifida - Meningomyelocele)`.
• Nā maʻi o ka ʻōnaehana Neuromuscular . No ka laʻana, ʻo Myasthenia Gravis.
• Nā Maʻi Pili Pili . ʻO nā hiʻohiʻona e komo pū me `(Dysplasia)` a me `(Metatropic Dwarfism)`.

I kekahi mau hihia, ua manaʻo ʻia he hui pū ʻana o nā kumu genetic a me ke kaiapuni e pili ana i ka hoʻoulu ʻana i ka arthrogryposis.

He aha nā hōʻailona maoli o ka arthrogryposis?

Hiki ke ʻokoʻa loa nā hōʻailona o ka arthrogryposis mai kēlā kanaka a kēia kanaka . ʻOiai i loko o ka ʻohana hoʻokahi, ʻokoʻa paha nā hōʻailona o kekahi kanaka a ʻoi aku paha ka ʻino ma mua o kekahi.

ʻO nā hōʻailona laulā :

• Ka palena o ka hiki ke hoʻoneʻe i nā hono liʻiliʻi a me nā hono nui.
• ʻAʻole paha e hiki ke hoʻoneʻe iki ʻia nā hono liʻiliʻi a me nā hono nui.
• Ua emi ka ulu ʻana o nā ʻiʻo (nā ʻiʻo hypoplastic).
• He palupalu nā lālā a he ʻano paipu.
• Hoʻokumu ʻia kahi membrane e like me ka ʻili (ʻupena palupalu) ma luna o nā hono, e pale ana i ka neʻe ʻana o nā hono.

Nā hiʻohiʻona ʻē aʻe i ʻike ʻia e ka poʻe he nui :

• He lahilahi loa nā iwi lōʻihi ma nā lima a me nā wāwae a maʻalahi hoʻi e haki.
• ʻO ka Cryptorchidism ka hāʻule ʻana o nā testicles (testes) i loko o ka scrotum i nā keikikāne.

Nā hiʻohiʻona i ʻike wale ʻia e ka poʻe kakaikahi :

• Nā pūhaka, nā kuʻekuʻe, a i ʻole nā ​​kuli i hemo.
• Nā pilikia me ke ʻano o ka ʻōnaehana nerve waena (kou lolo a me ke kaula spinal).
• Nā pilikia me ka hana o ka ʻōnaehana nerve waena (ʻo ia hoʻi, ke ʻano o kāna hana).

ʻO ka poʻe me ka amyoplasia ʻaʻole pinepine lākou i loaʻa nā pilikia me nā ʻōpū o loko a i ʻole ka hana noʻonoʻo . Eia nō naʻe, ma kahi o 10% e loaʻa paha nā pilikia me ka ʻōpū. Nā laʻana:

• Gastroschisis: ʻO ke ʻano kēia he lua i loko o ka ʻōpū.
• ʻO ka Atresia ʻōpū: ʻO ke ʻano kēia o ka pale ʻana o ka ʻōpū.

ʻO nā hono o nā wāwae ka mea i hoʻopilikia pinepine ʻia. ʻO nā hono o nā lima ka mea aʻe. Eia kekahi, hiki ke hoʻopilikia pinepine ʻia kēia mau hono:

• Nā poʻohiwi
• Nā kuli
• Kuʻekuʻe
• Kuʻekuʻe wāwae
• Manamana lima
• Pūlima lima
• Manamana wāwae
• Nā ʻūhā
• ʻAuwae hui

Pehea ka lōʻihi o ka arthrogryposis (AMC)?

ʻO ka Arthrogryposis kahi maʻi hiki ʻole ke ho'ōla loa ʻia . Eia nō naʻe, aia nā lāʻau lapaʻau e hiki ke hoʻomaikaʻi i kou ʻano ola . ʻO ka hoʻōla kino, ma ke ʻano kūikawā, hiki ke kōkua iā ʻoe me nā hana o kēlā me kēia lā e like me ke komo ʻana i ka lole a me ka inu wai.

Pehea ʻoe e ʻike ai inā loaʻa iā ʻoe ka arthrogryposis (AMC)?

I kekahi manawa, hiki ke ʻike ʻia ke kūlana ma mua o ka hānau ʻana o ka pēpē . Inā hōʻike kahi scan ultrasound maʻamau i ka wā hāpai i nā ʻano ʻē i nā lālā o ka pēpē, hiki ke manaʻo ʻia he arthrogryposis paha. ʻIke pinepine nā kauka i kēia mau pilikia hono i ka lua o ka trimester o ka hāpai ʻana . I kēlā manawa, hiki i ke kauka ke kuhikuhi iā ʻoe no ke aʻo ʻana i nā ʻano genetic .

E hāʻawi aku kāu kākā'ōlelo genetic iā ʻoe i ka ʻike e pili ana i nā kūlana genetic e hoʻopilikia paha i kāu pēpē. E nīnau lākou e pili ana i ka mōʻaukala olakino o kou ʻohana a paipai i nā hoʻokolohua genetic e pono ai. Eia kekahi laʻana:

• `(Ka Laʻana ʻana o nā Villus Chorionic - CVS)`
• `(ʻAmniocentesis)`

ʻOiai ma hope o ka hānau ʻana o ke pēpē, hiki i nā kauka ke ʻike i kēia kūlana ma ka nānā ʻana i kāna mau hōʻailona a me ka hana ʻana i nā hoʻokolohua like ʻole . ʻO kēia mau hoʻokolohua:

• Nā Haʻawina Hoʻoili Aʻalolo: Ana i ka wikiwiki o ka hele ʻana o nā impulses uila ma o nā aʻalolo.
• Electromyography (EMG): Hoʻopaʻa i ka hana uila o nā ʻiʻo.
• `(Muscle Biopsy)`: Lawe ʻia kahi ʻāpana ʻiʻo liʻiliʻi a nānā ʻia.
• Ke Kaʻina Hana Genome: Ke ʻike ʻana i nā genes i hoʻololi ʻia.
• Nā hoʻāʻo koko: E nānā i nā ʻano ʻē i loko o nā genes a me nā chromosomes.
• `(Hoʻohālikelike Genomic Hybridization (CGH) array)`: ʻIke i nā loli i nā chromosomes.
• Microarray: Hoʻopili i nā tausani o nā genes i ka manawa hoʻokahi.
• Nā haʻawina Exome: E ʻike i nā loli like ʻole i loko o nā genes.

I kekahi manawa hilinaʻi nā kauka i nā hoʻokolohua kiʻi e like me ka ultrasound a me EMG.

Ke ʻike kāu kauka i kahi kumu kūpono o kou arthrogryposis , e hoʻomohala lākou i kahi hoʻolālā lapaʻau . Hiki iā ʻoe ke kōkua i ka hana ʻana i kēlā hoʻolālā.

Pehea e mālama ʻia ai ka arthrogryposis (AMC)?

ʻOiai ʻaʻohe lāʻau lapaʻau kūikawā no ka arthrogryposis, hiki i ka lāʻau ke hoʻomaikaʻi nui i ke ola o ke keiki .

E hoʻomanaʻo, ʻaʻole kēia he kūlana e pale ai i ke keiki mai ke ola ʻana i kahi ola maikaʻi. Me ka mālama kūpono, hiki ke hoʻokō pono i nā mea he nui.

Ma muli o ke ʻano o nā kumu o ka arthrogryposis no kēlā me kēia kanaka, ʻokoʻa ke ʻano o ka lāʻau lapaʻau mai kēlā kanaka a kēia kanaka .

ʻO nā lāʻau lapaʻau i hoʻohana pinepine ʻia no ka arthrogryposis:

• Hoʻohana ʻia nā mea hoʻoheheʻe e hoʻopaʻa i nā hono ʻoʻoleʻa . Hoʻololi mālie ʻia kēia mau mea e ʻoi aku ka maʻalahi o ke hono.
• Hoʻōla kino : Hoʻomaikaʻi kēia i ka neʻe ʻana o nā hono a pale i ka atrophy o nā ʻiʻo.
• Ka Hoʻopunipuni ʻana i nā Hui : Pili kēia i kahi loea e hoʻoneʻe mālie i nā hui.
• Nā Hoʻomaʻamaʻa Hoʻolōʻihi : Hoʻonui kēia i ka maʻalahi a me ka laulā o ka neʻe ʻana o nā hono.
• ʻO ke ʻoki kino . Hiki ke hana ʻia ke ʻoki kino e hoʻonui i ka laulā o ka neʻe ʻana o nā hono e like me ke kuʻekuʻe wāwae, ka ʻūhā, ke kuli, ka pulima lima, a i ʻole ke kuʻekuʻe lima. ʻO ka pahuhopu nui ma ʻaneʻi, ʻo ia ka hoʻomaikaʻi ʻana i ka hana a ke keiki . Pili kēia i ka hoʻokuʻu ʻana i nā iwi mai nā ʻiʻo e pale ai i ka neʻe ʻana, e ʻae ana i nā ʻiʻo e ʻaelike a neʻe. Eia nō naʻe, hana ʻia ke ʻoki kino i nā hihia kakaikahi .

Paipai nā loea i kahi ala multidisciplinary . ʻO ke ʻano kēia e pono ai kāu keiki i nā lāʻau lapaʻau he nui. Loaʻa nā hopena maikaʻi loa ke hana pū kahi hui o nā kauka a me nā mea hoʻōla.

Pono anei au e ʻike i nā loea?

ʻAe, ʻoiaʻiʻo nō. Aia kekahi mau loea e hiki ke kōkua i kāu keiki me ka arthrogryposis. Eia kekahi laʻana:

• Kauka keiki
• ʻOrthopedic (loea iwi a me nā hono)
• He kauka loea i nā maʻi neurological (Neurologist)
• Kauka Lapaʻau Genetic
• Kauka Hoʻōla Hou
• Kauka Lapaʻau Kino

Hana pū kēia poʻe a pau e hana i ka hoʻolālā lapaʻau maikaʻi loa no kāu keiki.

Aia kekahi mau lāʻau lapaʻau e hiki ke hana ma ka home?

He nui ka poʻe me ka arthrogryposis e pono ai ka hoʻōla kino i ko lākou wā ʻōpiopio . E aʻo aku nā mea hoʻōla kino iā ʻoe i nā hoʻomaʻamaʻa hiki iā ʻoe ke hana ma ka home . He mea nui loa ka hana pololei ʻana i kēia mau mea.

Hiki ke pale ʻia ka arthrogryposis (AMC)?

ʻAʻole loa kēia ma kou mana . ʻAʻohe mea hiki iā ʻoe ke hana e hōʻemi i ka pilikia o kāu keiki i ka loaʻa ʻana o ka arthrogryposis. No laila, mai hoʻāhewa iā ʻoe iho .

He aha ka wā e hiki mai ana o kekahi me ka arthrogryposis (AMC)?

ʻO ka hiʻohiʻona lōʻihi no ka poʻe me AMC e hilinaʻi ʻia i kekahi mau kumu:

• Ke koʻikoʻi o ka arthrogryposis.
• ʻO ke kumu nui o ka arthrogryposis.
• Pehea e pane ai kou kino a i ʻole ke kino o kāu keiki i ka lāʻau lapaʻau .

Akā ʻo ka nūhou maikaʻi, ʻo ka hapa nui o ka poʻe me ka arthrogryposis e noho nei ma ke ʻano he mau mākua kūʻokoʻa . Hiki i ka lāʻau lapaʻau ke hoʻomaikaʻi i ko lākou neʻe ʻana i hiki iā lākou ke ola i kahi ola maʻamau, e like me ka poʻe me ka ʻole o ka arthrogryposis.

Ke ʻoi aku ka ʻino o ka arthrogryposis i ka hala ʻana o ka manawa?

ʻAʻole he maʻi holomua ka Arthrogryposis. ʻO ke ʻano kēia, ʻaʻole e ʻoi aku ka ʻino o ka paʻakikī o nā hono i ka hala ʻana o ka manawa. Eia nō naʻe, hiki i ke kūlana kumu ke koʻikoʻi i kekahi manawa . No laila, i ka wā e hōʻoia ai nā kauka ua loaʻa i kāu keiki ka arthrogryposis, he manaʻo maikaʻi e ʻike i nā kumu hiki.

He aha nā nīnau e pono iaʻu e nīnau aku i ke kauka e pili ana i ka arthrogryposis?

Hiki i ka nīnau ʻana i kāu kauka ke kōkua iā ʻoe e hoʻomaopopo maikaʻi i ka arthrogryposis. E noʻonoʻo e nīnau i kāu kauka i kēia mau nīnau e pili ana i ka hōʻailona o kāu pēpē:

• He aha ke ʻano o ka arthrogryposis i loaʻa i kaʻu keiki?
• Pehea ka lōʻihi e pono ai kaʻu pēpē e hoʻokomo i ka caster?
• He aha ka lāʻau lapaʻau maikaʻi loa no kaʻu keiki?
• ʻO wai nā kauka lapaʻau e pono ai i kaʻu keiki ke ʻike?
• Āhea mākou e hoʻomaka ai i ka hoʻōla kino?
• Aia kekahi mau lāʻau lapaʻau e pono ai kaʻu keiki e lawe?
• Pehea e hiki ai iaʻu ke kōkua maikaʻi loa i kaʻu keiki?

Hānau ʻia ka poʻe me ka arthrogryposis me nā hono ʻoʻoleʻa a paʻa ʻole paha. Loaʻa paha iā lākou ka pilikia me nā hana o kēlā me kēia lā, e like me ka hele wāwae a i ʻole ka paʻa ʻana i ke kīʻaha. Pono ka nui o ka poʻe i ka hoʻōla kino a i kekahi manawa ke ʻoki ʻana e hoʻomaikaʻi i ko lākou ola.

ʻO ka mea hope loa a ka makua e makemake ai e lohe, ʻo ia kekahi mea hewa me kā lākou pēpē i hānau ʻole ʻia a hānau hou ʻia paha. E ʻoluʻolu, mai hoʻāhewa iā ʻoe iho . ʻAʻohe mea hiki iā ʻoe ke hana ʻokoʻa. Inā makemake ʻoe i ke kōkua i ka hoʻoponopono ʻana i kēia kūlana paʻakikī, e kamaʻilio me kāu kauka e pili ana i ka ʻōlelo aʻoaʻo a me nā hui kākoʻo. ʻAʻole ʻoe hoʻokahi . Aia kekahi mau ʻohana ʻē aʻe e hele nei i nā kūlana like.

ʻO ka mea hope loa, e hoʻomanaʻo i kēia (Leka Lawe-Home)

ʻO Arthrogryposis kahi kūlana i hānau ʻia ai kahi pēpē me nā hui he nui i paʻa a ʻaʻole hiki ke neʻe pono. He mea weliweli paha ia, akā e hoʻomanaʻo me ka mālama kūpono a me ka mālama aloha, hiki i kēia mau keiki ke ola i nā ola maikaʻi loa .

ʻOiai ʻaʻole i loaʻa mau kahi kumu kikoʻī, hiki i ka genetics a me kekahi mau kūlana i ka wā hāpai ke pāʻani i kahi kuleana . He mea nui loa ia e ʻike mua iā ia a hoʻomaka i ka lāʻau lapaʻau e like me ka hoʻōla kino, ka hoʻolei ʻana inā pono, a kākaʻikahi ka ʻoki ʻana.

E hoʻomanaʻo, ʻaʻole kēia he mea hiki ke pale ʻia, no laila ma ke ʻano he mau mākua, mai hoʻonāwaliwali . E hana pū me kāu hui lapaʻau a hāʻawi i kāu keiki i kā lākou mea e pono ai. ʻAʻole ʻoe hoʻokahi, he nui ka poʻe e hiki ke kōkua.

Me ke ahonui, ke aloha, a me nā ʻōlelo aʻoaʻo lapaʻau kūpono , hiki i kahi keiki me ka arthrogryposis ke loaʻa i kahi wā e hiki mai ana nani.

ʻO ke ʻano o ka ʻeha o nā hono, ke kūlana hānau hou, ke olakino o ke keiki, nā maʻi hoʻoilina, ka lāʻau lapaʻau kino, ka ʻoʻoleʻa o nā hono he nui