Ke hopohopo iki nei ʻoe e pili ana i ke kiʻekiʻe o kāu keiki? E kamaʻilio kākou e pili ana i ka dwarfism (Dwarfism / Skeletal Dysplasia) a me nā kumu ʻē aʻe o ke kino pōkole

He ʻoi aku ka pōkole o kāu keiki ma mua o nā keiki ʻē aʻe? A i ʻole ke manaʻo nei ʻoe he ʻoi aku ka pōkole o ko lākou mau lālā i hoʻohālikelike ʻia me ke koena o ko lākou kino? I kekahi manawa he mea maʻamau kēia. Eia nō naʻe, i kekahi manawa he mau hōʻailona ia o kahi maʻi. I kēia lā e kamaʻilio mākou e pili ana i ia ʻano maʻi, dwarfism , a i ʻole ma ke ʻano lapaʻau , skeletal dysplasia, a me nā kumu ʻē aʻe o ke kino pōkole. Mai hopohopo, he mea nui loa ka makaʻala i kēia.

I ka ʻōlelo maʻalahi, he aha ka dwarfism?

ʻO Dwarfism, a i ʻole ka mea a mākou e kapa nei ʻo Skeletal Dysplasia , ʻaʻole ia he maʻi hoʻokahi. He huaʻōlelo lapaʻau laulā ia e pili ana i nā haneli o nā maʻi e hoʻopilikia ai i ka ulu ʻana o nā iwi a me ke cartilage. ʻO kēia mau maʻi ka hopena nui i ka emi ʻana o ke kiʻekiʻe o ke kanaka, a i ʻole ke kino pōkole. ʻO ka maʻamau, ʻo ke kanaka me kēia maʻi he emi ma mua o 4 kapuaʻi 10 ʻīniha (1.47 mika) ke kiʻekiʻe ma ke ʻano he pākeke.

Makemake kekahi poʻe e hoʻohana i ka huaʻōlelo "poʻe liʻiliʻi" e wehewehe i nā kānaka me kēia maʻi. Eia naʻe, ʻaʻole kūpono iki ka hoʻohana ʻana i nā huaʻōlelo e like me "midgets", no ka mea hiki ke hōʻeha i ko lākou mau manaʻo.

Aia nā ʻano dwarfism like ʻole. Hiki i kēia mau kūlana ke hoʻopilikia i ka ulu ʻana o nā iwi ma nā ʻāpana like ʻole o ko kākou kino, ʻoiai hoʻi nā lima, nā wāwae, ka ʻōpū, a me ke poʻo.

He aha nā ʻano dysplasia skeletal i kaulana loa?

Aia he mau haneli o nā ʻano dwarfism e hoʻopilikia ai i ka ulu ʻana o ka iwi. Eia kekahi o lākou:

• ʻO ke ʻano dwarfism Achondroplastic: ʻO kēia ke ʻano maʻamau o ka dwarfism. ʻO nā lālā pōkole a me ka lae koʻikoʻi nā hiʻohiʻona nui.
• ʻO ka hypochondroplasia dwarfism: He ʻano iki nō hoʻi kēia o ka dwarfism me nā lālā pōkole. Eia naʻe, ʻaʻole maopopo loa kona mau hōʻailona i ka wā kamaliʻi.
• Pituitary dwarfism: Hana ʻia kēia e ka nele o ka hormone ulu .
• ʻO ke ʻano dwarfism mua: Ma kēia ʻano, ua liʻiliʻi ke kino mai ka wā ma mua o ka hānau ʻana a ma nā pae āpau o ke ola.
• ʻO ka dysplasia Thanatophoric: He ʻano kakaikahi a koʻikoʻi loa kēia o ka dwarfism. I kēia kūlana, he pōkole loa nā lālā a he haiki loa ka umauma. ʻO ka maʻamau, make nā pēpē me kēia kūlana i loko o kekahi mau lā o ka hānau ʻana mai nā pilikia hanu.

E noʻonoʻo penei: ua like nā iwi o ko kākou kino me nā kia i hoʻohana ʻia no ke kūkulu ʻana i hale. Inā he loli i ka ulu ʻana o kēia mau kia, ua like ia me ka loli ʻana o ke ʻano a me ke kiʻekiʻe o ka hale holoʻokoʻa.

He aha ke ʻano o ka "Kiʻekiʻe Pōkole"?

ʻO ka huaʻōlelo "kino pōkole" e pili ana i ke kanaka i ʻoi aku ka pōkole ma mua o ka mea i manaʻo ʻia i ka hoʻohālikelike ʻana me nā poʻe ʻē aʻe o ka makahiki like.I nā keiki ʻōpio, ʻo ke ʻano paha kēia ua emi ko lākou kiʻekiʻe ma lalo o nā piʻo ulu maʻamau, a i ʻole ua emi lākou ma lalo o ke kiʻekiʻe i manaʻo ʻia ma muli o ke kiʻekiʻe o ko lākou mau mākua.

Hoʻoholo ʻia ke kiʻekiʻe o ke kanaka (a i ʻole ka lōʻihi ma ke ʻano o kahi pēpē) e kekahi mau kumu. ʻO kēia mau mea e like me ke kiʻekiʻe o nā mākua, ko lākou kaumaha, a me nā pae hormone. Hiki ke hana ʻia ka pōkole o ke kino e kekahi mau kūlana genetic.

ʻO wai ka mea i hoʻopilikia nui ʻia e ka dwarfism?

Hiki i ka Skeletal Dysplasia ke hoʻopilikia i kekahi. ʻO kekahi mau ʻano he genetic . ʻO ia hoʻi, hiki ke hoʻoilina ʻia mai nā mākua mai. Hoʻokumu ʻia nā ʻano ʻē aʻe e nā loli DNA kaulele. I ka manawa pinepine, akā ʻaʻole i nā manawa a pau, hānau ʻia nā keiki me ka dwarfism i nā mākua o ke kiʻekiʻe maʻamau.

Pehea ka maʻamau o kēia ʻano?

He maʻi laha ʻole ka Skeletal Dysplasia. ʻO ke ʻano maʻamau, ʻo ka achondroplasia, hoʻopilikia i hoʻokahi i loko o 15,000 a 40,000 mau kānaka.

Pehea ka hopena o ka dwarfism i kou kino?

Hoʻopilikia ka Skeletal Dysplasia i ka ulu ʻana o kou mau iwi . ʻO nā iwi lōʻihi i kou mau lima a me kou mau wāwae ka mea i hoʻopilikia pinepine ʻia. Eia nō naʻe, hiki ke hoʻopilikia ʻia nā iwi ʻē aʻe, me nā mea i loko o kou ʻōpū a me ke poʻo. Hiki i nā hōʻailona o ka dwarfism ke hoʻopilikia i nā ʻāpana ʻē aʻe o kou kino. Hiki iā ia ke alakaʻi i nā pilikia olakino lōʻihi, e like me ka nāwaliwali o ke kani o nā ʻiʻo a i ʻole nā ​​​​maʻi pinepine .

He aha nā hōʻailona o ka dwarfism?

ʻO ka hōʻailona nui a maʻamau o ka dysplasia skeletal, ʻo ia ke kino pōkole. ʻO ke kanaka me kēia maʻi, ʻoi aku ka liʻiliʻi ma mua o 4 kapuaʻi 10 ʻīniha (1.47 mika) ke kiʻekiʻe ma ke ʻano he pākeke. ʻIke nui ʻia kēia kino pōkole i ka wā makua a me nā mākua ʻelemakule ma mua o ka wā kamaliʻi.

ʻO ka hapa nui o nā kumu o ke kino pōkole he kūlike . ʻO ia hoʻi, he pōkole ke kino holoʻokoʻa, ʻaʻole hoʻokahi wale nō ʻāpana. Eia nō naʻe, i kekahi mau ʻano dwarfism, he kūlike ʻole kēia kino pōkole. ʻO ia hoʻi, he nui maʻamau ke kino akā he pōkole nā ​​​​lima a me nā wāwae.

ʻO nā hōʻailona ʻē aʻe o ka dwarfism e komo pū paha:

• Nā wāwae kūlou.
• Ke alahaka ihu pālahalaha (ka ʻāpana iwi ma luna o ka ihu).
• Poʻo nui.
• Lae i ʻike nui ʻia.
• Nā lima a me nā wāwae pōkole.
• Nā manamana lima a me nā manamana wāwae pōkole.
• Nā lima a me nā wāwae ākea.

I kekahi manawa, hiki i ka ulu ʻana o ka iwi maʻamau ke hana i nā pilikia olakino ʻē aʻe ma waho aʻe o kēia mau hōʻailona. Eia kekahi laʻana:

• Ka hōʻiliʻili ʻana o ka wai a puni ka lolo (Hydrocephalus).
• Nā aʻalolo i hoʻopaʻa ʻia.
• ʻO ke skoliosis.
• Nā maʻi pepeiao a i ʻole nā ​​pilikia lohe.
• ʻEha kuli a me ka kuʻekuʻe wāwae.
• ʻAneʻane hiamoe.

He aha nā kumu o ka dwarfism?

Hiki i ka Skeletal Dysplasia ke loaʻa i kekahi mau kumu. ʻO ka hapa nui, hoʻokumu ʻia ia e kahi loli i ka DNA o ke kanaka (mutation genetic) . Eia nō naʻe, ʻaʻole maopopo ke kumu pololei o kekahi mau ʻano.

Aia kekahi mau kumu nui:

• Moʻolelo ʻohana: Inā pōkole nā ​​mākua a me nā lālā ʻē aʻe o ka ʻohana, he mea maʻamau paha i ke keiki ke pōkole pū kekahi.
• Ka hoʻololi ʻana o ka genetics: Nā loli e kū mai ana i loko o ka DNA o ke kanaka.
• Ka nele o ka hormone ulu: ʻAʻole hana ka lolo i ka nui o ka hormone e pono ai no ka ulu ʻana o ka iwi.
• Ka lohi o ka ulu ʻana / ka lohi o ke kumukānāwai: Ulu kekahi mau keiki ma hope o ko lākou mau hoa. I kekahi manawa hiki i nā lālā ʻē aʻe o ka ʻohana ke loaʻa kēia ʻano ulu.
• ʻAi ʻole: ʻO ka loaʻa ʻole o ka meaʻai lawa e hiki ke hoʻopilikia i ka ulu ʻana o ke keiki.
• Liʻiliʻi no ka makahiki hāpai: ʻO ka hapa nui o nā pēpē liʻiliʻi i ka wā hānau e hiki i ka ulu maʻamau i loko o ʻelua a ʻekolu mau makahiki, akā ma kahi o 10% ʻaʻole.

He ʻano hoʻoilina anei ka dwarfism?

ʻAe, ʻo kekahi mau ʻano dwarfism (i hoʻokumu ʻia e Skeletal Dysplasia) he genetic. ʻO ia hoʻi, ua hoʻokumu ʻia lākou e kahi loli o ka DNA. I ka hapanui o nā hihia, he hanana ulia kēia genetic mutation, ʻaʻole ia he mea i hoʻoilina ʻia mai nā mākua pōkole. ʻO ia hoʻi, ʻo ka hapa nui o nā keiki me ka dwarfism he mau mākua ko lākou o ke kiʻekiʻe maʻamau.

Eia nō naʻe, inā loaʻa i kekahi a i ʻole nā ​​mākua ʻelua ka dwarfism, ʻoi aku ka nui o ka hiki i ke keiki ke hoʻoilina i ke kūlana. Aia ia i ke ʻano o ka dwarfism. No ka laʻana, inā loaʻa i ka makuahine a i ʻole ka makuakāne ka achondroplasia, he 50% ka manawa e loaʻa ai i ke keiki ke kūlana. Inā loaʻa i nā mākua ʻelua ka achondroplasia, he 25% ka manawa e loaʻa ai i ke keiki kahi ʻano dwarfism koʻikoʻi i kapa ʻia ʻo homozygous achondroplasia (kahi i hānau make ai ke keiki a make paha ma hope koke o ka hānau ʻana) a he 50% ka manawa e loaʻa ai ka achondroplasia maʻamau.

Inā ʻoe e hoʻolālā ana e hāpai a makemake ʻoe e ʻike i ka pilikia o kāu keiki e loaʻa i kahi maʻi hoʻoilina, e like me ka achondroplasia a i ʻole kekahi ʻano dwarfism ʻē aʻe, e kamaʻilio me kāu kauka e pili ana i ka hoʻāʻo genetic .

Pehea e ʻike ai i ka dwarfism?

I kekahi mau hihia, hiki i nā kauka ke ʻike i ka dysplasia skeletal ma mua o ka hānau ʻana o kahi pēpē. I ka wā hāpai, hoʻohana nā kauka i nā hoʻokolohua nānā prenatal e ʻike i nā ʻano ʻē i ka ulu ʻana o ka pēpē.

Ma hope o ka hānau ʻana o ka pēpē, e nānā ke kauka i ka ulu ʻana o ka pēpē i nā kipa olakino makahiki. Inā ʻaʻole ʻike ʻia ka dwarfism i ka wā hānau, inā hala ka pēpē i nā pae ulu , he hōʻailona paha ia o ke kūlana a hiki ke ʻike ʻia ma hope. Hiki i nā hoʻokolohua hou aʻe, e like me nā X-ray a me nā hoʻokolohua koko, ke kōkua i ke kauka e ʻike i ke kumu e ulu ʻole ai ka pēpē i ka wikiwiki maʻamau. Penei ka hana ʻana i ka hōʻailona.

He aha nā lāʻau lapaʻau no ka dwarfism?

No ka mea, ʻaʻohe lāʻau lapaʻau kūikawā no ka dysplasia skeletal, ke kuhikuhi nei ka lāʻau lapaʻau i ka kaohi ʻana i nā hōʻailona, ​​​​​​kū hoʻokahi i kēlā me kēia kanaka a me ka hōʻailona.

ʻO nā hana lapaʻau e kāohi ai i nā hōʻailona e hiki ke komo pū me:

• ʻO ke ʻoki kino e hoʻoponopono ai i ke ʻano o nā iwi a i ʻole nā ​​​​iwi e ulu ana i kahi ʻaoʻao ʻē.
• Ke wehe ʻana i ka wai keu i hōʻiliʻili a puni ka lolo (ʻoki kino no ka hydrocephalus).
• ʻO ke ʻoki kino e hoʻomaha ai i ke kaomi ma ke kumu o ka lolo (ka ʻāpana o ka lolo e pili ana i ke kaula spinal).
• ʻO ke ʻoki kino e wehe ai i nā tonsils a me/a i ʻole adenoids e maʻalahi ai ka hanu ʻana.
• Ke hoʻokomo ʻana i nā ʻōmole i loko o ka pepeiao e pale ai i nā maʻi pepeiao.

ʻO nā lāʻau lapaʻau ʻē aʻe ʻaʻole ʻokiʻoki:

• Ke hoʻohana nei i ka mīkini CPAP (Continuous Positive Airway Pressure) e mālama ai i ka apnea hiamoe .
• Ke hoʻohana nei i nā mea kōkua hoʻolohe e hoʻomaikaʻi i ka lohe.
• Paipai i nā ʻano ʻai olakino a me ka hoʻoikaika kino e pale aku i ke kaumaha nui a momona paha (BMI o 30 a ʻoi paha).
• Ke hāʻawi ʻana i ka hormone ulu (hormone therapy) ma ke ʻano he lāʻau lapaʻau no ka hemahema o ka hormone ulu.
• I ka makahiki 2021, ua ʻāpono ka US Food and Drug Administration i ka lāʻau Vosoritide (Voxzogo®) no ka hoʻohana ʻana i nā keiki ma luna o 5 mau makahiki me ka achondroplasia nona nā papa ulu iwi i pani ʻole ʻia (ʻo ia hoʻi, ʻaʻole i pau ko lākou ulu ʻana). Ma kahi hoʻokolohua lapaʻau, ua kōkua ka lāʻau Vosoritide i ka ulu wikiwiki ʻana o nā keiki.

E hoʻomanaʻo, he mea pono paha kēia mau lāʻau lapaʻau no ke ola holoʻokoʻa, akā hiki iā lākou ke hoʻomaikaʻi nui i ke ola o ke kanaka.

Pehea e hiki ai iaʻu ke hōʻemi i ka pilikia o kaʻu keiki i ka dwarfism?

No ka mea, he ʻano hoʻoilina kekahi ʻano o ka dysplasia skeletal, ʻaʻohe ala e pale aku ai i kēia kūlana ke ʻole ke kauka e hana i kahi hoʻokolohua, e like me ka hoʻāʻo ʻana i ka genetic pre-implantation . ʻOi aku ka maikaʻi o ke kūkākūkā ʻana me kāu kauka e pili ana i ka hoʻāʻo ʻana i ka genetic e ʻike pono ai i ka pilikia o kāu keiki no kahi kūlana genetic e like me ka dwarfism.

ʻAi no ka ulu ʻana o ke keikiHe mea nui loa kāu e ʻōlelo ai. Inā hāpai ʻoe, e hōʻoia e ʻai ʻoe i ka meaʻai kaulike. Ma hope o ka hānau ʻana o ke pēpē, pono ʻoe e hāʻawi iā ia i nā ʻano meaʻai olakino like ʻole e kūpono i kona mau makahiki, e like me ka protein, nā huaʻai, nā palaoa, a me nā mea kanu. Ma kēlā ala, e loaʻa iā ia nā meaola a pau e pono ai no ka ulu ʻana.

He aha kāu e manaʻo ai inā loaʻa iā ʻoe kahi keiki me ka dwarfism?

ʻOiai ʻaʻohe lāʻau lapaʻau kūikawā no ka dysplasia skeletal, nui ka poʻe me ke kino pōkole e ola i kahi ola maʻamau a me ke olakino maikaʻi me ka lāʻau e kāohi i ko lākou mau hōʻailona. Eia nō naʻe, hiki i kekahi o nā hōʻailona o kēia ʻano ke paʻakikī no ke keiki a me ka ʻohana, ʻoiai inā pono ka ulu ʻana o ka iwi maʻamau i nā ʻoki kino he nui. E hana pū kāu kauka me ʻoe a me kāu keiki e hāʻawi i ka lāʻau e pono ai kāu keiki e ola i kahi ola piha a olakino.

He aha ke kūlana o ke ola o kekahi kanaka me ka dwarfism?

I ka hapa nui o nā ʻano dwarfism, hiki ke manaʻo ʻia kahi ola maʻamau me ka mālama ʻana e kāohi i nā hōʻailona. Eia naʻe, ʻo ka mea pōʻino, i kekahi mau ʻano, hiki ke hoʻopōkole ʻia ke ola.

Pehea e mālama ai i kaʻu keiki me ka skeletal dysplasia?

Ma waho aʻe o ka hoʻokō ʻana i nā pono olakino o kāu keiki, hiki iā ʻoe ke kākoʻo i kāu keiki ma ka hana ʻana i kēia mau mea, e hana ana i kahi ʻano ma ka home e hoʻokipa ai a hiki iā lākou ke komo i nā mea āpau:

• Ke wehe ʻana i nā mea pale kino ma ka home i hiki i ke keiki ke hana kūʻokoʻa (e laʻa me ka noho ʻana, ka hoʻohaʻahaʻa ʻana i ke kuapo kukui).
• Ke hāʻawi nei i ke kākoʻo hoʻonaʻauao a/a i ʻole ke kākoʻo noʻonoʻo e pale aku ai a i ʻole e hoʻoponopono ai i ka hoʻoweliweli mai nā keiki ʻē aʻe ma ke kula.
• Eia kekahi, ke hoʻopili ʻana me nā hui e kōkua ana i nā keiki me nā maʻi.

Ma ke ʻano he mau mākua, pono kākou e mālama i kā kākou mau keiki e like me ko lākou mau makahiki, ʻaʻole ko lākou kiʻekiʻe. He mea nui loa kēia.

He aha nā nīnau āu e nīnau ai i ke kauka?

Inā loaʻa kēia maʻi i kāu keiki, hiki iā ʻoe ke nīnau i ke kauka i nā nīnau e like me:

• He mea pono anei ke ʻoki kino e mālama ai i nā hōʻailona o kaʻu keiki?
• Pehea e hiki ai iaʻu ke kōkua i kaʻu keiki e pale i nā maʻi pepeiao?
• Aia kekahi mau hopena ʻaoʻao i nā lāʻau lapaʻau āu e ʻōlelo nei?
• ʻEhia ka lōʻihi e pono ai i kaʻu keiki ke lawe i nā hormones ulu?

ʻO ka mea hope loa, nā mea e hoʻomanaʻo ai

ʻOiai inā ua ʻike ʻia kāu keiki me ka Skeletal Dysplasia a pono e hana ʻoki kino a i ʻole ka lāʻau lapaʻau lōʻihi e mālama i kā lākou mau hōʻailona, ​​ʻaʻole ia he manaʻo ʻaʻole hiki iā lākou ke ola i kahi ola piha a koʻikoʻi. Ma ke ʻano he makua a mea mālama paha, pono ʻoe e mālama i kāu keiki e like me ko lākou mau makahiki, ʻaʻole ko lākou kiʻekiʻe. E kōkua kēia i kāu keiki e hoʻomohala i ka manaʻo ponoʻī a manaʻo ua ʻae ʻia a aloha ʻia.

Inā he kanaka makua ʻoe me ka dementia, ʻo ka loaʻa ʻana o kahi hui kākoʻo maikaʻi, ka mālama ʻana i kāu mau hōʻailona, ​​​​a me ke ola ʻana i kahi nohona olakino e hiki ke kōkua iā ʻoe e ola i kahi ola piha a hana.

dwarfism, skeletal dysplasia, kino pōkole, dwarfism, kino pōkole, ulu iwi, maʻi genetic