Ke pilikia nui nei kāu pēpē me ka ulu ʻana o ko lākou iwi? E aʻo kākou e pili ana i ka Thanatophoric Dysplasia!

Ma ke ʻano he makuahine e hiki mai ana, ua piha ʻoe i ka hoihoi a me ke aloha no nā mea āpau e pili ana i kāu pēpē, ʻeā? Akā i kekahi manawa, pono mākou e hana me nā huaʻōlelo a mākou i lohe ʻole ai a hiki ke hopohopo iki. I kēia lā, e kamaʻilio mākou e pili ana i kahi maʻi kakaikahi akā koʻikoʻi loa i kapa ʻia ʻo "Thanatophoric Dysplasia". ʻOiai paha he paʻakikī iki ka inoa, e mālama kākou i ka maʻalahi.

He aha ka Thanatophoric Dysplasia?

I ka ʻōlelo maʻalahi, ʻo ka thanatophoric dysplasia kahi maʻi genetic e hoʻopilikia i ka ulu ʻana o nā iwi a me nā māmā o ka pēpē. Hoʻomaka pinepine ia i ka wā e noho ana ke pēpē i loko o ka ʻōpū.

Mai ka ʻōlelo Helene kahiko mai ka huaʻōlelo "thanatophoric". ʻO ia hoʻi, "lawe mai i ka make." He mea weliweli iki ka inoa. ʻO ke kumu, he nui nā pēpē i hānau ʻia me kēia maʻi i loaʻa ka pilikia nui o ka make ma mua o ka hānau ʻana (stillbirth) a i ʻole i loko o kekahi mau lā o ka hānau ʻana ma muli o ka hāʻule ʻana o ka hanu, ʻoiai ʻaʻole i ulu piha ko lākou mau māmā.

Eia nō naʻe, he mea kākaʻikahi loa , ua loaʻa nā hōʻike e pili ana i nā pēpē i hānau ʻia me kēia maʻi e ola ana a hiki i ka wā kamaliʻi me ka mālama olakino koʻikoʻi, ʻoiai no ka hemahema o ka hanu ʻana. ʻO kēia hemahema o ka hanu ʻana ke loaʻa ʻole i ke kino o ka pēpē ka lawa o ka oxygen a i ʻole he nui loa ke kalapona ʻokikene i loko.

Aia kekahi mau ʻano o ka chondrodysplasia?

ʻAe, aia ʻelua ʻano nui o kēia ʻano, i hoʻokaʻawale ʻia e nā ʻokoʻa i ke ʻano o ka ulu ʻana o nā iwi:

• ʻAno 1: He pōkole loa nā lālā o nā pēpē me kēia ʻano, he umauma haiki loa, nā ʻūhā ʻano kakaka , a he iwi kuamoʻo pālahalaha (platyspondyly). I kekahi manawa, hui koke nā iwi o ke poʻo (craniosynostosis). ʻOi aku ka maʻamau o kēia ʻano ma mua o ke ʻano 2. E noʻonoʻo iā ia he mau lima liʻiliʻi a me nā wāwae o kahi pēpē, akā ʻaʻole lākou i kūlike me ke koena o ke kino.

• ʻAno 2: He pōkole loa nā lālā o kēia ʻano pēpē a he umauma haiki . Eia nō naʻe, pololei nā iwi ʻūhā . Eia kekahi, no ka mea e pani koke ana nā humuhumu i loko o ke poʻo, hiki ke ʻike ʻia nā puʻupuʻu ma ke alo a me nā ʻaoʻao o ke poʻo. I kekahi manawa ua kapa ʻia kēia he "cloverleaf skull" ma muli o kona ʻano.

Pehea ka maʻamau o kēia ʻano?

He maʻi laha ʻole ka Thanatophoric dysplasia. Wahi a nā helu helu, hoʻokahi pēpē i loko o 20,000 mau hānau ʻana e ʻeha paha i kēia maʻi. ʻO ke ʻano kēia, ʻaʻole ia he mea i ʻike pinepine ʻia.

He aha nā hōʻailona o ka dysplasia thanatophoric?

Ma muli o kēia ʻano e hoʻopilikia ai i ke ʻano o ka ulu ʻana o nā māmā, nā iwi, a me nā hono o ka pēpē i loko o ka ʻōpū, hiki ke ʻike ʻia nā hōʻailona penei:

• ʻAʻole e ulu pono ana nā māmā: Ma muli kēia o nā iwi ʻaoʻao pōkole a me kahi lua umauma haiki. ʻAʻole nui kahi e waiho ai no nā māmā e pehu a ulu pono.
• Nā pelu keu o ka ʻili ma nā lima a me nā wāwae.
• He poʻo nui, he lae e kīkoʻo ana, a he helehelena pālahalaha.
• Ke kino pōkole (skeletal dysplasia) a me nā lālā pōkole loa (micromelia).
• Nā maka ākea.

ʻO ke kumu nui o ka make ʻana o nā pēpē i hānau ʻia me kēia maʻi, ʻo ia ka hemahema o ka hanu ʻana, kahi e hana ʻia ai ke ulu pono ʻole nā ​​māmā. ʻO kēia ka mea e paʻakikī ai i ka pēpē ke hanu pono.

I ka mea pinepine ʻole, hiki i nā pēpē e ola ma mua o ka wā ʻōpiopio ke loaʻa nā hōʻailona hou aʻe:

• Ka ulu ʻana o nā iwi ma ke ʻano ʻē.
• Nā pilikia hanu mau.
• Ka nalowale o ka lohe.
• Nā kūlana e like me ka maʻi epilepsy (seizures).

He aha ke kumu o kēia?

ʻO ke kumu nui o ka thalamophytic dysplasia he mutation i loko o kahi gene i kapa ʻia ʻo `FGFR3`. ʻO kēia gene `FGFR3` ka mea e hāʻawi i nā kuhikuhi no ka hoʻomohala ʻana a me ka mālama ʻana i nā iwi i loko o ke kino o kahi pēpē. E noʻonoʻo iā ia e like me ke kuapo kukui i loko o ko mākou kino. Hoʻā ʻia ia i ka wā e pono ai a pio i ka wā e pau ai ka hana.

Akā i ka wā e loaʻa ai kahi mutation i loko o ka gene `FGFR3`, ua like ia me ke kuapo kukui i paʻa i ke kūlana `on`. A laila, lilo nā protein i kāohi ʻia e kēia gene i mea hana nui. ʻO ka hopena, ua kaupalena ʻia ke kaʻina hana o ka `ossification`, ke kaʻina hana e lilo ai nā iwi lōʻihi, cartilage, i iwi. I ka ʻōlelo maʻalahi, ʻaʻole i hana pono ʻia nā iwi.

ʻO ka hapa nui o nā hihia o ka chondrodysplasia i hoʻokumu ʻia e kahi mutation genetic hou e kū mai ana i loko o kahi pēpē. ʻO ke ʻano kēia, ʻaʻole ia i hoʻoilina ʻia mai ka makuahine a i ʻole ka makuakāne. ʻO ka maʻamau, ʻaʻohe mea o ka ʻohana i loaʻa i ke ʻano ma mua. Eia naʻe, he mea kakaikahi loa , hiki i kahi keiki ke hoʻoilina i kēia mutation genetic mai kekahi o nā mākua. Ua kapa ʻia kēia he ʻano "autosomal dominant".

ʻO wai ka mea e hoʻopilikia ʻia e kēia kūlana?

Hiki ke loaʻa ka dysplasia Thanatophoric i kekahi keiki. ʻO kēia no ka mea e hana pinepine ʻia kēia loli genetic. E like me ka mea i ʻōlelo ʻia ma mua, he mea kākaʻikahi loa ia i hoʻoilina ʻia mai nā mākua mai.

ʻO ka mea nui, ʻaʻole i hana ʻia kēia mau loli genetic e kekahi mea a ka makuahine i hana ai i ka wā hāpai. No laila, mai hoʻāhewa iā ʻoe iho no kēia.

Pehea e ʻike ʻia ai ka dysplasia thanatophoric?

ʻIke pinepine ʻia kēia maʻi ʻoiai ke pēpē i loko o ka ʻōpū. I ka wā o nā scan ultrasound i ka wā hāpai,Hiki ke ʻike ʻia kēia maʻi. E kuhikuhi kāu kauka i nā hoʻokolohua e hiki ke ʻike i nā ʻano maʻi like ʻole i ka wā hāpai. I ka wā o nā scan, nānā nā kauka i nā hōʻailona e like me ka hoʻonui ʻia o ka nui o ka wai amniotic a puni ka pēpē (polyhydramnios) a me nā ʻano ʻē i ka ulu ʻana o ka iwi.

Inā, ma hope o kekahi mau hoʻāʻo ʻana, ʻike ʻia kahi mutation i loko o ka gene `FGFR3`, e hana nā kauka i nā hana e pono ai e pale aku i nā pilikia i ka wā hāpai.

Ma hope o ka hānau ʻana o ka pēpē, hiki ke hana ʻia kahi X-ray o nā iwi o ka pēpē a me kahi ultrasound o nā ʻōpū o loko, ʻoiai hoʻi nā māmā , e hoʻoholo ai inā pono kekahi lāʻau lapaʻau hanu.

He aha nā ʻano hoʻokolohua i hana ʻia no kēia?

I ka wā hāpai, hiki i kāu kauka ke kuhikuhi i nā hoʻokolohua e like me kēia e ʻike ai i nā kūlana genetic:

• ʻAmniocentesis: Pili kēia i ka lawe ʻana i kahi hāpana liʻiliʻi o ka wai amniotic e hoʻopuni ana i ka pēpē ma waena o 15 a me 20 mau pule o ka hāpai ʻana a hoʻāʻo iā ia e ʻike i nā kūlana olakino like ʻole.
• ʻO ka Chorionic Villus Sampling (CVS): Ma kēia, ma waena o 10 a me 13 mau pule o ka hāpai ʻana, lawe ʻia kahi hāpana liʻiliʻi o nā pūnaewele mai ka placenta a hoʻāʻo ʻia no nā kūlana genetic.

Pehea e mālama ʻia ai ka dysplasia thanatophoric?

ʻO nā pēpē e ola ma hope o ka hānau ʻana e hoʻomaka koke i ka lāʻau lapaʻau e kākoʻo i ko lākou mau māmā i ulu pono ʻole . Kōkua kēia i ka pēpē e hanu maikaʻi. Hiki i kēia kākoʻo hanu ke komo pū me:

• Ka hoʻokomo ʻana o kahi ʻōmole i loko o ka ʻōpū hanu (tracheostomy).
• Ke hāʻawi ʻana i ka oxygen hoʻohui ma o nā puka ihu (e.g., 'Continuous Positive Airway Pressure' a i ʻole ka mīkini 'CPAP').
• Ke hāʻawi nei i nā bronchodilators.
• Ke hoʻohana nei i ka mīkini (ventilator) e kōkua i ka hoʻolako ʻana i ka ea i nā māmā.

Eia kekahi, hoʻohana ʻia ka lāʻau lapaʻau e hōʻoluʻolu i nā hōʻailona ʻē aʻe o ke kūlana. Eia kekahi laʻana:

• Ka hoʻohana ʻana i nā mea kōkua lohe no nā pilikia o ka lohe.
• Ke hoʻolako nei i ka lāʻau antiseizure no ka maʻi epilepsy.
• ʻO ke ʻoki kino inā pono e hoʻoponopono i nā ʻano ʻē i ka ulu ʻana o ka iwi.

ʻOiai ʻaʻole ola ka nui o nā pēpē i ʻike ʻia me ka thanatophoric dysplasia, e aʻo aku kāu hui lapaʻau iā ʻoe e pili ana i nā kumuwaiwai a me ke kākoʻo iā ʻoe a me kāu poʻe aloha e pono ai ke kū i ke kaumaha a me ka hōʻoluʻolu e hele mai me kēia hōʻailona. ʻO ke aʻo ʻana i ke kaumaha, a i ʻole ke aʻo ʻana i ka make, he ala ia e kōkua iā ʻoe e kū i kēia ʻike weliweli a hoʻokele i kēia manawa paʻakikī. Loaʻa pū nā loea olakino noʻonoʻo e kōkua iā ʻoe e kū i kou kaumaha.

He aha kāu e manaʻo ai inā loaʻa iā ʻoe kahi pēpē i ʻike ʻia me ka dysplasia thanatophoric?

ʻO ka ʻoiaʻiʻo, ʻaʻole maikaʻi loa ka wānana no nā pēpē i ʻike ʻia me ka thanatophoric dysplasia. ʻO ke kumu nui o kēia, ʻaʻole i ulu pono nā māmā. He pōkole loa ko lākou ola. Make ka hapa nui o nā pēpē ma ke ʻano he mau keiki hānau make a i ʻole i loko o nā pule mua o ka hānau ʻana.

Pono nā pēpē e ola ma hope o ka hānau ʻana i ka mālama koʻikoʻi e kākoʻo i ko lākou mau māmā a hoʻopaʻa i ko lākou hanu ʻana. Pono pinepine lākou i ke kōkua o kahi ventilator i ka wā kamaliʻi.

He mea ʻeha a paʻakikī hoʻi ka nalowale ʻana o kahi keiki. Hiki iā ia ke loaʻa ka hopena nui i kou olakino noʻonoʻo a me ke kūlana naʻau. Loaʻa nā lawelawe kākoʻo i nā mākua a me nā ʻohana e kaumaha ana e kōkua iā lākou e hoʻomanawanui i kēia nalowale.

Pehea e hiki ai iaʻu ke hōʻemi i ka pilikia o kaʻu keiki i ka hoʻomohala ʻana i ka chondrodysplasia?

No ka mea, ʻo kēia ʻano maʻi ka hopena pinepine o kahi hoʻololi genetic hou e kū nei ma ke ʻano ulia pōpilikia, ʻaʻohe ala e pale aku ai i ka dysplasia thanatophoric. Inā ʻoe e hoʻolālā ana e hāpai, e kamaʻilio me kāu kauka e pili ana i ka hoʻāʻo genetic e hoʻomaopopo i kou pilikia o ka loaʻa ʻana o kahi keiki me ke ʻano genetic.

Pehea wau e mālama ai iaʻu iho inā he keiki kaʻu i ʻike ʻia me ka dysplasia thanatophoric?

He mea paʻakikī a ʻeha hoʻi ka ʻike ʻana ua loaʻa i kāu pēpē ka chondroplasia. E kōkua kāu hui lapaʻau iā ʻoe a me kāu poʻe aloha e hoʻomanawanui i kēia manawa paʻakikī. E hāʻawi pū lākou i ka mālama hahai e hōʻoia i kou olakino a me kou ʻohana ma hope o ka nalowale ʻana o kāu pēpē.

Inā ʻoe e kaumaha ana, hopohopo, kaumaha, a manaʻolana ʻole paha, a ke hakakā nei ʻoe e hoʻomanawanui i ka nalowale ʻana o kahi keiki, he mea nui e kāhea aku i kāu kauka. Hiki iā lākou ke kuhikuhi iā ʻoe i kahi loea olakino noʻonoʻo a i ʻole kahi hui kākoʻo no ke kaumaha. Ma laila, hiki iā ʻoe ke kaʻana like i kou mau manaʻo me nā poʻe ʻē aʻe i loaʻa i nā ʻike like. ʻO ka loaʻa ʻana o kahi pūnaewele kākoʻo a puni ʻoe e hiki ke kōkua iā ʻoe e hoʻokele i kou kaumaha.

Āhea ʻoe e pono ai e hele i ka lumi pilikia?

Inā paʻakikī kāu pēpē i hānau ʻia me ka thanatophoric dysplasia i ka hanu ʻana , he puʻuwai puʻuwai kūpono ʻole a wikiwiki paha , a i ʻole e polū, poni, a mae paha ka ʻili a puni nā lehelehe, ka waha, a me nā manamana lima , he hōʻailona paha kēia o ka pilikia hanu a me ka nele o ka oxygen. E kelepona koke i ka 911 (a i ʻole kāu helu pilikia kūloko) a i ʻole e hele i ka lumi pilikia kokoke loa.

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

• Hiki iaʻu ke loaʻa ka hoʻāʻo genetic inā e hoʻolālā ana au e hāpai?
• Inā ho'āʻo wau e loaʻa kahi keiki ʻē aʻe, aia kekahi manawa e loaʻa pū ai i kēlā keiki ka chondrodysplasia?
• He aha nā kumuwaiwai āu e ʻōlelo mai ai e kōkua iaʻu e hoʻomanawanui i ke kaumaha o ka nalowale ʻana o kaʻu keiki?

ʻOiai inā ʻoe e hana i nā mea āpau e hiki ai iā ʻoe ke loaʻa kahi hāpai olakino, hiki i nā loli genetic ke alakaʻi i nā pilikia e hoʻoweliweli i ke ola, e like me ka thyrotoxicosis. I loko o kēia manawa paʻakikī, hiki iā ʻoe ke kaumaha, huhū, huikau, kōkua ʻole, a nalowale paha. No laila, he mea nui loa ka loaʻa ʻana o kahi hui kākoʻo a puni ʻoe. Hiki iā ʻoe ke loaʻa ka ʻoluʻolu i ke kamaʻilio ʻana me kahi loea olakino noʻonoʻo a i ʻole ke komo ʻana i kahi hui kākoʻo. Ua mākaukau kāu hui lapaʻau e pane i kāu mau nīnau a pau a kōkua iā ʻoe e hoʻoponopono i kēia nalowale.

Nā mea nui e hoʻomanaʻo (Leka Lawe-Home)

He ʻano paʻakikī loa ka dysplasia Thanatophoric, kakaikahi, a paʻakikī hoʻi i nā mākua e hoʻoponopono ai. Hiki ke huikau a weliweli hoʻi ke aʻo ʻana e pili ana i ia mea.

ʻO ka mea nui loa, ʻo ia ka ʻike ʻaʻole ʻoe hoʻokahi. Aia nā kauka, nā kahu maʻi, nā kākāʻōlelo, a me kou ʻohana a me nā hoaaloha e kākoʻo iā ʻoe i kēia manawa.

• Hoʻokumu pinepine ʻia kēia maʻi e kahi hoʻololi genetic maʻamau. ʻO ke ʻano kēia, ʻaʻole na ʻoe ia hewa.
• Aia nā hoʻokolohua prenatal e hiki ke ʻike i kēia ʻano i ka wā hāpai.
• ʻO ke kumu nui o ka lāʻau lapaʻau ʻo ia ke kākoʻo i ka hanu ʻana o ka pēpē a me ka kaohi ʻana i nā hōʻailona.
• He mea nui loa ka ʻimi ʻana i ke aʻo ʻana no ke kaumaha a me ke kākoʻo olakino noʻonoʻo i ka wā e hana ai me kahi pohō e like me kēia.

Manaʻolana mākou ua kōkua kēia ʻike iā ʻoe e hoʻomaopopo i kēia kūlana paʻakikī. Inā he mau nīnau hou aku kāu, mai kānalua e kamaʻilio me kāu kauka.

ʻO ka dysplasia thanatophoric, ke kūlana hoʻoilina, kīnā hānau, ka ulu ʻana o ka iwi, ka ulu ʻana o ka māmā, ka gene FGFR3, ka hāʻule ʻana o ka hanu, ka ʻike maʻi prenatal, nā maʻi hoʻoilina, ka ulu ʻana o ka iwi, ka ulu ʻana o ka māmā, ke olakino o ka fetal