Ua lohe paha ʻoe i kahi maʻi ʻē a laha ʻole? I kekahi manawa hānau olakino nā pēpē, akā ma hope o kekahi mau mahina, loaʻa iā lākou kekahi mau loli i ko lākou ulu ʻana. I kēia lā e kamaʻilio mākou e pili ana i kekahi maʻi genetic laha ʻole akā koʻikoʻi loa i kapa ʻia ʻo ka maʻi Sandhoff . He mea hou paha kēia inoa iā ʻoe. Akā he mea nui loa ia e ʻike e pili ana i ia mea, ʻoiai inā loaʻa i kekahi o ko mākou ʻohana kēia maʻi.
He aha ka maʻi Sandhoff?
I ka ʻōlelo maʻalahi, ʻo ka maʻi Sandhoff kahi maʻi genetic laha ʻole e hoʻopau i nā hunaola nerve i loko o ko kākou lolo a me ke kaula kuamoʻo . ʻIke pinepine ʻia ia i ka wā kamaliʻi. ʻO ia hoʻi, hoʻomaka ka pēpē e hōʻike i nā hōʻailona i loko o kekahi mau mahina o ka hānau ʻana. Eia naʻe, he mea kākaʻikahi loa, hiki ke ʻike ʻia kēia maʻi i ka wā kamaliʻi a i ʻole ka wā makua.
ʻO kēia, i mea e pololei ai, he 'maʻi mālama lysosomal '. I kēia manawa ke noʻonoʻo nei paha ʻoe i ke ʻano o kēia mau lysosomes. E noʻonoʻo i kēlā me kēia cell i loko o ko mākou kino he 'kikowaena hoʻokele ʻōpala' liʻiliʻi i loko. Kāhea mākou i kēia mau 'lysosomes' . I loko o kēia mau lysosomes he nui nā ʻano enzymes. ʻO ka hana a kēia mau enzymes ka wāwahi, hoʻoheheʻe, a hoʻomaʻemaʻe i nā ʻano molekala like ʻole e komo i loko o ke kelepona.
ʻAʻole lawa ka hana ʻana o ka poʻe me ka maʻi Sandhoff i kahi enzyme kūikawā i kapa ʻia ʻo beta-hexosaminidase . Me ka ʻole o kēia enzyme, hoʻomaka kekahi mau ʻano momona, i kapa ʻia ʻo lipids , e hōʻiliʻili i loko o nā cell. Ua like ia me ka ʻōpala hiki ʻole ke wehe ʻia. Ke hōʻiliʻili nui ʻia kēia momona, hōʻino ia i ka lolo a me nā ʻōnaehana kino ʻē aʻe. ʻO ka mea pōʻino, alakaʻi pinepine kēia ʻano i ka make i ka wā ʻōpiopio.
Ua ʻike ʻia hoʻi ka maʻi Sandhoff he ʻano koʻikoʻi o ka maʻi Tay-Sachs, kahi maʻi lysosomal ʻē aʻe.
Pehea ka laha ʻole o ka maʻi Sandhoff?
He maʻi laha ʻole kēia. Ua ʻōlelo ʻia hoʻokahi wale nō i loko o hoʻokahi miliona kānaka e loaʻa ana i kēia maʻi. No laila, ʻaʻole ia he mea kupanaha ʻaʻole au i lohe e pili ana i ia mea.
ʻO wai ka mea i ʻoi aku ka pilikia o ka loaʻa ʻana o kēia maʻi?
No ka mea, he maʻi hoʻoilina ka maʻi Sandhoff, inā loaʻa i kekahi o kou ʻohana ka maʻi, ʻoi aku kou pilikia o ka loaʻa ʻana o ka maʻi . Eia kekahi, ʻoi aku ka maʻamau o ka maʻi i kekahi mau hui lāhui. ʻO kēia mau mea:
- Ka poʻe Iudaio ʻAshkenazi
- ʻO ka poʻe Creole o ka ʻākau o Argentina
- Nā kānaka o ʻEulopa Hikina
- Poʻe Lebanona
- Nā ʻInia Metis ma Saskatchewan, Kanada
ʻO ke ʻano kēia, inā pili kou moʻokūʻauhau i kēia mau hui, aia paha kahi pilikia liʻiliʻi. Akā e hoʻomanaʻo, he mea kākaʻikahi loa kēia.
He aha ke kumu o kēia?
He aha ke kumu o ka maʻi Sandhoff?Hoʻokumu ʻia ia e nā mutations i loko o kahi gene i kapa ʻia ʻo HEXB. He puke liʻiliʻi wale nō ka gene e mālama ana i ka ʻike i loko o ko mākou kino. Ke loaʻa kahi kīnā, a i ʻole mutation, i loko o kēia gene HEXB, ʻaʻole hiki i ke kino ke hana i ka nui o ka enzyme beta-hexosaminidase. Me ka ʻole o kēia enzyme, ʻaʻole hiki i ke kino ke wāwahi i kekahi mau ʻano momona. A laila hōʻiliʻili kēlā mau momona i nā pae ʻawahia, ʻoi aku hoʻi i loko o nā cell nerve o ka lolo a me ke kaula spinal.
He aha nā hōʻailona o kēia maʻi?
ʻIke ʻia ke ʻano maʻamau o ka maʻi Sandhoff i nā pēpē . ʻIke ʻia lākou he olakino i ka wā hānau, akā hoʻomaka e hōʻike i nā hōʻailona ma waena o 3 a me 6 mahina o ka makahiki . ʻO kēia mau hōʻailona:
- Nā ʻano ulu ʻole o ka iwi : ʻO ke ʻano i ulu pono ʻole ai nā iwi.
- Nā neʻe ʻano ʻē : Ke hoʻoneʻe ʻoe i kou mau lālā a hoʻāʻo paha e hele, hana ʻia nā mea ma ke ʻano ʻē a kūlike ʻole.
- Nā kiko "ʻulaʻula-cherry" i loko o nā maka : Ke nānā ʻoe i loko o ka maka, hiki iā ʻoe ke ʻike i kahi kiko ʻulaʻula e like me ke kala o ka cherry. He hiʻohiʻona kēia o kēia maʻi.
- Ka hoʻonui ʻia ʻana o ke poʻo (macrocephaly) a i ʻole ka hoʻonui ʻia ʻana o nā ʻōpū o loko (organomegaly) : ʻO nā ʻōpū, ʻoiai ke akepaʻa a me ka spleen, hiki ke lilo i mea nui aʻe ma mua o ka maʻamau.
- Pane pūʻiwa : Piʻi aʻela ka pēpē a ʻūlū i ke kani iki loa.
- Nā maʻi hanu pinepine : ʻO ke ʻano kēia e loaʻa pinepine nā maʻi e pili ana i ka māmā.
- Ka lohi o ka ulu ʻana o nā mākau neʻe : ʻO nā mea e like me ke kolo ʻana, ka noho ʻana, a me ka ʻōwili ʻana ma hope o nā pēpē ʻē aʻe.
- Ka nāwaliwali o nā ʻiʻo, ka paʻakikī o ka hoʻokele ʻana i nā ʻiʻo (ataxia) a i ʻole ka ʻūlū ʻana o nā ʻiʻo (myoclonus) : He manaʻo o ka nāwaliwali, ka nalowale o ke kaulike, a i kekahi manawa ka ʻūlū ʻana o nā ʻiʻo.
Ke koʻikoʻi ka maʻi Sandhoff, ʻike pinepine nā pēpē i kēia mau mea:
- Poho lohe
- Nā kīnā noʻonoʻo
- Ka maʻi lolo
- ʻEpilepsy ( nā hopu ʻana )
- Pohō ka ʻike
- ʻO ka mea pōʻino, ʻo ka make i ka wā ʻōpiopio .
He mea kākaʻikahi loa, hiki i kekahi poʻe ke loaʻa i ka maʻi Sandhoff i ka wā kamaliʻi a i ʻole ka wā makua. Ua like nā hōʻailona, akā ʻaʻole i koʻikoʻi e like me nā pēpē.
Pehea e ʻike ʻia ai kēia maʻi?
Hoʻoponopono nā kauka i ka maʻi Sandhoff ma ka noʻonoʻo ʻana i nā kumu aʻe:
- Ke nānā hou ʻana i nā hōʻailona a me ka wā i hoʻomaka ai : Pono ʻoe e kūkākūkā kikoʻī me ke kauka i ka wā i ʻike mua ai ʻoe i nā loli i kāu keiki a me ke ʻano o kēlā mau hōʻailona.
- Ke kūkākūkā ʻana i ka mōʻaukala ʻohana a me ke kumu lāhui : He mea nui e ʻike inā loaʻa i kekahi o kou ʻohana kēia mau maʻi a inā pili kou kūpuna i nā hui lāhui i ʻōlelo ʻia ma luna.
- Hoʻokolokolo kino: Nānā ke kauka i ke keiki.
- Nā hoʻāʻo koko : Hana ʻia nā hoʻāʻo koko e ʻike ai inā hemahema ka enzyme beta-hexosaminidase a ʻaʻohe loa paha.
- Ka hoʻāʻo ʻana i ka hoʻoilina : Hana ʻia kahi hoʻāʻo hoʻoilina e hōʻoia inā loaʻa ka hoʻololi ʻana o ka gene HEXB.
He aha nā lāʻau lapaʻau?
ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau no ka maʻi Sandhoff . Ke kālele nei nā lāʻau lapaʻau o kēia manawa i ka hōʻemi ʻana i nā hōʻailona a me ke kōkua ʻana i nā mea maʻi e noho ʻoluʻolu e like me ka hiki. Hiki i kēia mau mea ke komo pū me:
- Hoʻopau nā lāʻau anticonvulsant i nā hopu epileptic.
- Ka hāʻawi ʻana i ka meaʻai maikaʻi .
- Ka mālama ʻana i ka hydration kūpono i loko o ke kino.
- Kōkua i ka wehe ʻana o ke ala ea (e hōʻemi i nā pilikia hanu).
ʻOiai ʻaʻohe lāʻau lapaʻau mau loa no kēia maʻi, ke ʻimi mau nei nā kauka a me nā mea noiʻi i nā lāʻau lapaʻau hou. He manaʻolana nui kēlā.
Aia kekahi mau lāʻau lapaʻau e noiʻi ʻia nei a hiki ke kōkua i ka wā e hiki mai ana:
- Nā hoʻoili iwi iwi
- Lapaʻau Gene : Hoʻāʻo kēia e hoʻoponopono i ka gene kīnā.
- Hoʻōla hoʻemi substrate : Pili kēia i ka hoʻololi ʻana i nā molekala e pili ana i ke kaʻina hana maʻi a me ka hoʻāʻo ʻana e hoʻōki i ka holomua o ka maʻi.
- Lapaʻau pūnaewele kumu
He mea nui loa i nā ʻohana i hoʻopilikia ʻia e ka maʻi Sandhoff ke kamaʻilio me nā loea genetics a i ʻole nā kākāʻōlelo genetic . Hiki iā lākou ke kōkua i ka hoʻoholo ʻana inā pono e hoʻāʻo ʻia kekahi o ka ʻohana no kēia mau hoʻololi genetic.
He aha ka wā e hiki mai ana o ka poʻe me kēia maʻi?
ʻO kaʻoiaʻiʻo, ʻaʻole i hoʻohiki nui ʻia ka wā e hiki mai ana o ka poʻe me ka maʻi Sandhoff, a he pōkole ke ola . Ke loaʻa i nā pēpē kēia maʻi, e ʻoi koke ka ʻino o ko lākou kūlana a make lākou i ka makahiki 3 a 4 paha. ʻO ka hapa pinepine, ma muli ia o nā pilikia mai nā maʻi hanu. Ua ʻike au he mea kaumaha kēia ke lohe.
Hiki iā kākou ke pale aku i kēia maʻi?
ʻO ka mea pōʻino, ʻaʻohe ala e pale aku ai i ka maʻi Sandhoff no ka mea he genetic ia. Eia nō naʻe, hiki i nā genetics a me nā kākāʻōlelo genetic ke kōkua iā ʻoe e hoʻoholo inā paha kekahi o kou ʻohana e pilikia ana i ka loaʻa ʻana o ka maʻi. Hiki ke lilo kēlā ʻike i mea pono, no ka laʻana, i ka hoʻoholo ʻana inā e loaʻa nā keiki.
Inā loaʻa ka maʻi Sandhoff i kaʻu keiki, he aha kaʻu e nīnau aku ai i nā kauka?
Inā ua ʻike ʻia kāu keiki me ka maʻi Sandhoff, hiki iā ʻoe ke nīnau i nā kauka e like me kēia:
- He aha ke ʻano o nā kīnā e hiki iā kākou ke manaʻo?
- Ke ola o kā mākou keikiʻEhia ke kumukūʻai?
- He aha ke ʻano o nā loea e pono ai mākou e ʻike? ʻEhia pinepine mākou e ʻike ai iā lākou?
- Pehea e mālama ai i kaʻu pēpē i ka ʻoluʻolu ?
- Pono anei nā lālā ʻē aʻe o ka ʻohana e hana i nā hoʻāʻo genetic ?
He aha ke ala maikaʻi loa e mālama ai i ka maʻi Sandhoff?
Aia kekahi mau mea e hiki ke kōkua iā ʻoe a me kou ʻohana e hoʻoponopono i kēia kūlana paʻakikī:
- Kūkākūkā : E kōkua ke kūkākūkā iā ʻoe e noho ikaika i ka noʻonoʻo a hoʻomanawanui i kēia kaumaha.
- Ke hoʻopili nei me nā hui e kākoʻo ana i nā mea maʻi a me ka noiʻi.
- Nā hui kākoʻo : He mea waiwai nui kēia mau hui no ke kamaʻilio ʻana me nā mākua ʻē aʻe e kū nei i ke kūlana like me ʻoe a no ka kaʻana like ʻana i nā ʻike.
He ʻano loli hoʻoilina kakaikahi ka maʻi Sandhoff e hoʻoulu ai i ka momona e hōʻiliʻili i nā pae ʻawahia i loko o nā hunaola nerve ma ka lolo a me ke kaula kuamoʻo. Hoʻomohala nā keiki i hoʻopilikia ʻia i nā hōʻailona koʻikoʻi a make i ka wā ʻōpiopio. Ke hoʻomau nei ka noiʻi ʻana e hoʻomaopopo hou aku i ka maʻi Sandhoff a me kāna mau lāʻau lapaʻau hiki.
Leka Hoʻihoʻi Hope Loa
Ke lana nei koʻu manaʻo ua loaʻa iā ʻoe kekahi ʻike mai kā mākou i kūkākūkā ai e pili ana i ka maʻi Sandhoff. ʻO nā mea nui e hoʻomanaʻo ai:
- He maʻi hoʻoilina laha ʻole loa kēia.
- Hoʻopōʻino kēia i nā hunaola aʻalolo , ʻoi aku hoʻi i ka wā kamaliʻi.
- ʻO ke kumu nui, ʻo ia ka nele o ka enzyme beta-hexosaminidase .
- ʻAʻohe lāʻau lapaʻau mau loa i kēia manawa, akā aia nā lāʻau lapaʻau e kaohi i nā hōʻailona a hāʻawi i ka hōʻoluʻolu.
- Ke hana nei nā noiʻi e hiki ke hāʻawi iā mākou i ka manaʻolana no ka wā e hiki mai ana.
- Inā loaʻa kēia pilikia i kekahi o kou ʻohana, he mea nui loa ia e ʻimi i ka ʻōlelo aʻoaʻo genetic .
- I ke kūlana e like me kēia, ʻo ka loaʻa ʻana o ke kākoʻo noʻonoʻo a me nā lawelawe kākoʻo e lilo ia i mea ikaika nui nou a me kou ʻohana.
Inā he kōkua kēia ʻike iā ʻoe, maikaʻi kēlā. Inā he mau nīnau hou aku kāu e pili ana i kēia, mai kānalua e kamaʻilio me ke kauka.
ʻO ka maʻi Sandhoff, ka maʻi Sandhoff, nā maʻi genetic, nā hunaola nerve, beta-hexosaminidase, ka maʻi lysosomal storage, nā hōʻailona fetal, ka hoʻāʻo genetic
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