Loaʻa i kāu keiki ka maʻi Tay-Sachs? (Maʻi Tay-Sachs) - E kamaʻilio kākou e pili ana i kēia

ʻAʻohe mea ʻoi aku ka hauʻoli ma mua o ka nānā ʻana i kahi pēpē hānau hou. Akā i ka ulu ʻana o kēlā pēpē, ʻōwili e like me nā pēpē ʻē aʻe, ʻaʻole noho i luna, a ala aʻe i ke kani iki, he mea paʻakikī ke hōʻike i ka makaʻu a me ka hopohopo a ka makuahine a makua paha e manaʻo nei. I kēia lā, ke kamaʻilio nei mākou e pili ana i kahi maʻi genetic laha ʻole e haki ai ka naʻau o ia mau mākua, akā pono mākou e makaʻala. ʻO ia ka maʻi Tay-Sachs.

I ka ʻōlelo maʻalahi, he aha ka maʻi Tay-Sachs?

He maʻi hoʻoilina ʻo Tay-Sachs i hoʻoili ʻia mai kēlā hanauna a i kēia hanauna, e hōʻino ana i nā neurons i loko o ka lolo a me ke kaula kuamoʻo o kā mākou keiki, a laila e luku ana i kēlā mau cell. E noʻonoʻo e like me kahi hale hana i loko o ko mākou kino. Loaʻa i kēia hale hana kahi enzyme kūikawā e wehe i nā ʻōpala pono ʻole (nā mea ʻawaʻawa). ʻO ka mea e hana ʻia ana i ka maʻi Tay-Sachs, ʻaʻole i hana ʻia kēia enzyme. A laila hoʻomaka kēlā ʻōpala, ʻo ia hoʻi, kahi mea momona, e hōʻiliʻili i loko o nā cell nerve. Hōʻiliʻili kēia mau mea ʻawaʻawa a hōʻino i nā cell nerve.

He maʻi holomua kēia, me nā hōʻailona e ʻoi aku ka ʻino mai kekahi keiki a i kekahi keiki. ʻO ka mea kaumaha, make nā keiki i ka wā ʻōpiopio loa ma muli o kēia ʻano. ʻAʻohe lāʻau lapaʻau i kēia manawa. Eia nō naʻe, aia nā lāʻau lapaʻau e hiki ke kōkua i ka hōʻemi ʻana i nā hōʻailona a mālama i ke keiki i ka ʻoluʻolu e like me ka hiki.

He aha nā ʻano nui o ka maʻi Tay-Sachs?

Ua māhele ʻia kēia maʻi i ʻekolu ʻano nui ma muli o ka makahiki e hoʻomaka ai nā hōʻailona e ʻike ʻia. I mea e maʻalahi ai ka hoʻomaopopo ʻana, e nānā kākou i kēia ʻano.

ʻO ka mea nui, ua hoʻoili ʻia kēia ʻano maʻi mai kēlā hanauna a i kēia hanauna i loko o nā ʻohana ma ke ʻano like. Eia kekahi laʻana, inā loaʻa i kekahi keiki ke ʻano pēpē, ʻaʻole pilikia nā keiki ʻē aʻe o ka ʻohana i ka loaʻa ʻana o ke ʻano hoʻomaka hope.

He aha nā hōʻailona o ka maʻi Tay-Sachs?

ʻOkoʻa nā hōʻailona ma muli o ka makahiki o ke keiki a me ke ʻano o ka maʻi. E kālele mākou i ke ʻano maʻamau o nā hōʻailona i ʻike ʻia i ka wā kamaliʻi (Classic Infantile).

Nā Hōʻailona Pēpē Maʻamau

• Nā hōʻailona mua (ma kahi o 6 mahina):
• Ka nāwaliwali o nā ʻiʻo.
• Ka paʻakikī i ka ʻōwili ʻana, ka noho ʻana i luna, a i ʻole ke kolo ʻana.
• Hoʻoulu kahi walaʻau nui koke i kahi haʻalulu ikaika.

• I ka wā e hoʻonui ʻia ai ka maʻi (ma mua o ka makahiki):
• Nā ʻūlū ʻiʻo i manaʻo ʻole ʻia (myoclonic jerks).
• Nā ʻōʻili.
• Ka paʻakikī i ka ale ʻana i ka meaʻai (dysphagia).
• Ka nalowale mālie o ka ʻike a me ka lohe.
• Ke nānā ke kauka i nā maka, ʻike ʻo ia i kahi kiko ʻulaʻula ma ka retina o ka maka. He hiʻohiʻona kēia o kēia maʻi.
• Nā maʻi hanu pinepine (e.g. pneumonia).

I ka piha ʻana o nā makahiki ʻelua, ua lilo ka maʻi i ka mana piha o ke keiki. Hiki i ke keiki ke komo i kahi kūlana pane ʻole. ʻO ke ʻano kēia ua nalowale ka hapa nui o ka hana o ka lolo. ʻO ka mea kaumaha, make pinepine kēia mau keiki ma waena o nā makahiki 2 a me 4. ʻO ke kumu o ka make pinepine he maʻi koʻikoʻi e like me ka niumonia.

Nā hōʻailona i ka wā kamaliʻi a me ka wā makua

He mea kākaʻikahi loa kēia, no laila e nānā iki kākou.

• ʻŌpio: ʻO nā hōʻailona e pili ana i ka nāwaliwali o nā ʻiʻo, ka paʻakikī i ka ʻōlelo ʻana, ka poina ʻana i nā mea i aʻo ʻia, nā loli o ke ʻano, a me nā hopu ʻana.
• Hoʻomaka lohi:Hiki ke loaʻa ka nāwaliwali o nā ʻiʻo a me nā haʻalulu, ka paʻakikī i ka hele ʻana (ataxia), ka paʻakikī i ka ʻōlelo ʻana a me ke ale ʻana, a me nā pilikia noʻonoʻo (psychosis).

No ke aha lā kēia e hana nei? He aha ke kumu?

Hoʻokumu ʻia ka maʻi Tay-Sachs e kahi mutation i loko o kahi gene i kapa ʻia ʻo HEXA . I ka ʻōlelo maʻalahi, he loli liʻiliʻi ia i loko o kahi gene.

Hāʻawi kēia mau genes i nā kuhikuhi i kēlā me kēia cell i loko o ko kākou kino. Hāʻawi ka gene HEXA i nā kuhikuhi e hana i ka enzyme `hexosaminidase A` a mākou i kamaʻilio ai ma mua. Ke hoʻololi ʻia ka gene, ʻaʻole i hana ʻia kēia enzyme. A laila hōʻiliʻili kēlā mau mea momona ʻawaʻawa i loko o nā cell nerve a luku iā lākou.

Pehea lā e hiki ai i kēia ke hoʻoilina i kahi keiki?

He mea paʻakikī iki kēia e hoʻomaopopo, akā he mea nui loa ia. Hoʻoilina ʻia ka maʻi Tay-Sachs ma ke ʻano autosomal recessive . ʻO ke ʻano kēia, i mea e loaʻa ai ka maʻi, pono i ke keiki ke hoʻoilina i kēia gene HEXA i hoʻololi ʻia mai ko lākou makuahine a me ko lākou makuakāne.

E noʻonoʻo i kēia ʻano. Loaʻa i kēlā me kēia kanaka ʻelua kope o kēlā me kēia gene. Hoʻokahi mai ko lākou makuahine, a hoʻokahi mai ko lākou makuakāne.

• ʻO wai ka mea lawe?: ʻO ka mea lawe he kanaka nona kekahi kope o ka gene HEXA olakino a ʻo kekahi kope i hoʻololi ʻia. ʻAʻole loaʻa i kēia poʻe ka maʻi a hōʻike paha i nā hōʻailona no ka mea ʻo ke kope olakino o ka gene e hana i ka enzyme e pono ai. Eia nō naʻe, hiki iā lākou ke hoʻoili i ka gene i hoʻololi ʻia i kā lākou mau keiki.

I kēia manawa, e nānā i ka mea e hiki ke hana i kahi keiki inā he mau mea lawe nā mākua ʻelua :

• Aia he 25% (hoʻokahi i loko o ʻehā) ka manawa e hoʻoilina ai ke keiki i nā genes olakino wale nō mai nā mākua ʻelua. A laila e olakino ke keiki a ʻaʻole he mea lawe.
• Aia he 50% (hoʻokahi i loko o ʻelua) ka manawa e loaʻa ai i ke keiki ka gene mutant mai kekahi makua a me ka gene olakino mai kekahi . A laila e lilo ke keiki i mea lawe, akā ʻaʻole e loaʻa ka maʻi.
• Aia he 25% (hoʻokahi i loko o ʻehā) ka manawa e hoʻoilina ai ke keiki i nā genes i hoʻololi ʻia mai nā mākua ʻelua . E loaʻa i kēlā keiki ka maʻi Tay-Sachs.

Pehea e ʻike ai i ka maʻi?

Inā kānalua ke kauka i ka maʻi Tay-Sachs, e hana nui lākou i kahi hoʻāʻo koko e hōʻoia i ia mea.

• Hoʻāʻo koko: Lawe ʻia kahi hāpana o ke koko o ka pēpē a ana ʻia ke kiʻekiʻe o kahi enzyme i kapa ʻia ʻo `hexosaminidase A`. He haʻahaʻa loa a ʻaʻohe paha pae o kēia enzyme i kahi pēpē me ka maʻi Tay-Sachs.
• Hoʻokolokolo maka: E nānā ke kauka i nā maka o ke keiki a nānā i kahi kiko ʻulaʻula-cherry a mākou i ʻōlelo ai ma mua.

Hiki ke ʻike ʻia kēia i ka wā hāpai?

ʻAe. Aia ʻelua mau hoʻokolohua kūikawā e hiki ke ʻike i kēia maʻi i ka wā hāpai. Hana pinepine ʻia kēia mau mea no nā mākua i loaʻa ka pilikia nui o ka loaʻa ʻana o ka maʻi.

1. ʻAmniocentesis:Lawe ʻia kahi hāpana o ka wai amniotic e hoʻopuni ana i ka pēpē i loko o ka ʻōpū a hoʻāʻo ʻia.

2. Chorionic Villus Sampling (CVS): Lawe ʻia kahi ʻāpana liʻiliʻi o ka ʻiʻo mai ka placenta a nānā ʻia.

Nānā kēia mau hoʻāʻo ʻelua i ka pae o ka enzyme `hexosaminidase A`. Inā haʻahaʻa kēlā pae, hiki ke ʻike ʻia ua loaʻa i ke keiki ka maʻi.

Ka mālama ʻana a me ka mālama ʻana i ke keiki

Ua ʻike wau he mea kaumaha nui kēia nou e lohe ai. ʻAʻohe lāʻau lapaʻau no ka maʻi Tay-Sachs i kēia manawa. Eia nō naʻe, nui nā mea hiki iā ʻoe ke hana e kōkua i kāu keiki e emi iho ka ʻeha a me ka ʻoluʻolu ʻole a e hoʻomaha iā lākou e like me ka hiki. Ua kapa ʻia kēia he mālama kākoʻo .

• Nā pilikia hanu: Hiki i kēia mau keiki ke paʻakikī i ka moni ʻana, hiki ke alakaʻi i nā maʻi māmā pinepine. Hiki i nā lāʻau lapaʻau, nā mea hana kūikawā, a me ke kau pololei ʻana i ke keiki ke kōkua.
• ʻAi Meaʻai: I ka piʻi ʻana o ka pilikia o ka moni ʻana, pono paha kahi ʻōmole hānai.
• Nā hopu ʻana: Hāʻawi ʻia ka lāʻau lapaʻau e kāohi i nā hopu ʻana.
• Hoʻoulu ʻana i nā ʻike: ʻOiai ua kaupalena ʻia nā ʻike ʻelima o ke keiki, hiki i nā mea e like me ke mele palupalu, nā ʻala, a me nā mea pāʻani palupalu ke hōʻoluʻolu i ke keiki.

Āhea ʻoe e pono ai e ʻike i ke kauka?

• Inā ʻoe e hoʻolālā ana e loaʻa kahi keiki: He mea nui loa ka ʻimi ʻana i ke aʻo ʻana no nā ʻano maʻi ma mua o ka loaʻa ʻana o kahi keiki, ʻoiai inā he moʻolelo ʻohana kou a i ʻole kāu hoa no ka maʻi Tay-Sachs, a inā paha ʻoe e manaʻo nei he mau mea lawe ʻolua ʻelua. E noi i kāu kauka no ka ʻōlelo aʻo no kēia.
• I ka wā hāpai: Inā he kānalua a hopohopo paha kou e pili ana i ke olakino o kāu pēpē, e ʻike koke i kāu kauka.
• Inā ʻike ʻoe i kahi pilikia me ka ulu ʻana o kāu keiki: Inā ʻike ʻoe ʻaʻole kāu keiki e hana ana i nā mea e pono ai lākou e hana i ko lākou mau makahiki (e like me ka ʻōwili ʻana, ke noho ʻana i luna), e kamaʻilio me kāu pediatrician e pili ana i ia mea.

He hōʻailona kaumaha maoli nō ʻo Tay-Sachs. Akā ma ka ʻike ʻana iā ia, ka hoʻomaopopo ʻana i nā pilikia, a me ka ʻimi ʻana i nā hoʻāʻo genetic mua inā pono, hiki iā mākou ke pale aku i ka ʻeha o ka naʻau i ka wā e hiki mai ana.