Ua ʻike anei ʻoe i kekahi mau lohi o ka ulu ʻana a i ʻole nā ʻano hana ʻē i kāu keiki i kēia mau lā? I kekahi manawa manaʻo mākou he mau mea maʻamau kēia e hana ʻia i nā keiki i ko lākou ulu ʻana, akā hiki ke lilo i mau hōʻailona mua o kahi maʻi laha ʻole i kapa ʻia ʻo Sanfilippo Syndrome. Mai hopohopo i ka inoa. He maʻi laha ʻole loa ia. Akā, he mea nui i nā mākua ke makaʻala iā ia. No laila, e kamaʻilio kākou e pili ana i ia mea me ka maopopo a me ka maʻalahi.
He aha maoli ka Sanfilippo Syndrome?
I ka ʻōlelo maʻalahi, he maʻi hoʻoilina laha ʻole kēia e hoʻopilikia ai i ka metabolism o ke keiki a me ka ulu ʻana o ka lolo. Ua kapa ʻia hoʻi ʻo ia ʻo mucopolysaccharidosis type III.
E noʻonoʻo i ko kākou kino e like me kahi hale hana nui. I mea e hana pono ai kēia hale hana, pono e wāwahi ʻia kekahi mau mea, e wāwahi ʻia, e hoʻomaʻemaʻe ʻia, a e wehe ʻia. ʻO nā limahana liʻiliʻi e kōkua ana i kēia hana ua kapa ʻia ʻo enzymes . ʻO kahi keiki me ka maʻi Sanfilippo ʻaʻohe ona enzymes koʻikoʻi.
Me ka ʻole o kēia enzyme, ʻaʻole i wāwahi pono ʻia a hoʻopau ʻia kahi molekole kō kūlohelohe i kapa ʻia ʻo heparan sulfate mai ke kino. Akā, hoʻomaka ia e hōʻiliʻili i loko o nā ʻāpana o ke kino. Ua like ia me ka ʻōpala i loko o kahi hale hana i hoʻomaʻemaʻe ʻole ʻia. Mālama ʻia kēia mea i hōʻiliʻili ʻia i loko o nā keʻena i loko o nā ʻāpana i kapa ʻia ʻo lysosomes . ʻO ia ke kumu i kapa ʻia ai kēia maʻi he maʻi mālama lysosomal .
Ke hōʻiliʻili ʻia kēia ʻōpala, ʻaʻole hiki i nā pūnaewele ke hana pono. I ka hala ʻana o ka manawa, hiki i kēia ke hōʻino i nā ʻōpū, hoʻopaneʻe i ka ulu ʻana, hoʻoulu i nā pilikia pili i ka hana, a hōʻino nui i ka ʻōnaehana nerve.
He maʻi kākaʻikahi loa kēia. Hoʻopilikia ia ma kahi o hoʻokahi i loko o 70,000 mau hānau ʻana. ʻO ka awelika o ke ola o nā keiki me kēia maʻi ma waena o 10 a me 20 mau makahiki. Eia nō naʻe, inā ua loaʻa i kekahi o ka ʻohana kēia maʻi ma mua, ʻoi aku ka nui o ka pilikia o ke keiki e loaʻa iā ia.
Aia kekahi mau ʻano like ʻole o kēia maʻi?
ʻAe, ʻehā ʻano nui o kēia maʻi. ʻEhā ʻano enzymes e kōkua i ka wāwahi ʻana i ka heparan sulfate a mākou i kamaʻilio ai ma mua. No laila, ua hoʻoholo ʻia ke ʻano o ka maʻi e ka mea o kēia mau ʻano enzymes ʻehā i nele . ʻOi aku ka liʻiliʻi o ke koʻikoʻi o kekahi mau ʻano ma mua o nā mea ʻē aʻe.
| ʻAno maʻi | Nā kiko kūikawā | Ka awelika o ke ola |
|---|---|---|
| ʻAno A | ʻO ke ʻano maʻamau a koʻikoʻi loa. ʻIke koke ʻia nā hōʻailona. Hiki i ke keiki ke nalowale koke i ka hiki ke hele a kamaʻilio. | Ma kahi o 15 mau makahiki. |
| ʻAno B | ʻAʻole ʻoi aku ka ʻino ma mua o ke ʻano A. Lohi iki ka ulu ʻana o nā hōʻailona. | Ma kahi o 19 mau makahiki. |
| ʻAno C | He ʻano kākaʻikahi loa. Lohi ka ulu ʻana o nā hōʻailona. ʻO nā hiki e like me ka hele wāwae a me ke kamaʻilio ʻana he lōʻihi ka lōʻihi. | Ma kahi o 23 mau makahiki. |
| ʻAno D | ʻO ke ʻano kākaʻikahi loa. Lohi loa ka ulu ʻana o nā hōʻailona. He kakaikahi loa ka ʻikepili e pili ana i kēia. | ʻAʻole hiki ke ʻōlelo maopopo. |
He mea nui: He mau waiwai awelika wale nō kēia mau manaʻolana ola. He ʻokoʻa kēlā me kēia keiki. No laila, hiki ke ʻokoʻa ma muli o ke kūlana o kēlā me kēia keiki.
He aha nā hōʻailona o kēia maʻi?
Hoʻomaka pinepine nā hōʻailona mua e ʻike ʻia ma waena o ka hānau ʻana a me 2 mau makahiki. Eia nō naʻe, i kekahi manawa ʻaʻole paha e ʻike nā mākua iā lākou, a hiki paha i nā kauka ke kuhihewa iā lākou no nā kūlana ʻē aʻe (e like me ka autism).
| ʻAno hiʻohiʻona | Nā hōʻailona i ʻike pinepine ʻia |
|---|---|
| Nā Hōʻailona Mua | |
| Ka ulu ʻana a me ke ʻano | Ka lohi ʻana o ka ʻōlelo a me nā hanana holomua ʻē aʻe, nā ʻano like me ka autism, ka hyperactivity, nā maʻi pepeiao a me nā sinus pinepine, nā pilikia hiamoe (insomnia/ala ʻana). |
| Nā ʻano kino | ʻO ke ʻano ʻāʻī iki o ka helehelena (ka lae a me nā kuʻemaka e kīkoʻo ana, nā lehelehe piha a me ka ihu), ka ulu nui ʻana o ka lauoho o ke kino (hirsutism), ke poʻo i ʻoi aku ka nui ma mua o ka maʻamau (macrocephaly), a me ka hernia umbilical. |
| ʻĒ aʻe | Ka paʻa mau ʻana o ke ala hanu o luna, ka maʻi kahe mau. |
| Nā Hōʻailona Hope | |
| Nā hiki i emi iho | Ka emi ʻana o ka hiki ke aʻo, noʻonoʻo, a hana i nā hana, a me ka nalowale ʻana o ka hiki ke hele, kamaʻilio, ʻai, a lohe i ka hala ʻana o ka manawa. |
| Nā loli kino | ʻIke nui ʻia nā hiʻohiʻona o ka helehelena, ʻoʻoleʻa nā hono, emi ʻana o nā ʻiʻo o ka lolo (atrophy o ka lolo), nā ʻōhū, a me ka hoʻonui ʻia ʻana o ke akepaʻa a i ʻole ka spleen. |
| ʻAno | ʻOi aku ka ʻino o nā pilikia o ka hana, ka hyperactivity, a me ka impulsivity. |
ʻAno kūikawā o nā kuʻemaka
E ʻike paha nā mākua i nā loli o ka helehelena o nā keiki me kēia maʻi, ʻoiai ke noho pū lākou me nā kaikaina. ʻOi aku ka nui o nā kuʻemaka ma mua o ka maʻamau.ʻO kahi hiʻohiʻona kūikawā o kēia maʻi, ʻo ia kekahi manawa ua hui pū ʻia kēia mau maka maka ʻelua, e like me ke kuʻemaka hoʻokahi ma ka lae. ʻOi aku ka ʻike ʻia o kēia hiʻohiʻona i ka wā e ulu ana ke keiki.
Pehea e ʻike ai i ka maʻi?
No ka mea he maʻi laha ʻole ia a ua like nā hōʻailona mua me nā maʻi ʻē aʻe, ʻaʻole hoʻāʻo pinepine nā kauka no ia i kona wā mua. Akā, he mea nui loa ka ʻike ʻana i ka maʻi i ka wā hikiwawe loa i hiki i ke keiki ke loaʻa ke kākoʻo a me ka lāʻau e pono ai.
Inā he lohi ka ulu ʻana o kāu keiki, nā kīnā hānau, a me kekahi o nā hōʻailona mua a mākou i kūkākūkā ai, hiki i kāu kauka ke kuhikuhi iā ʻoe no ka hoʻāʻo genetic a metabolic paha.
- Hoʻāʻo mimi: ʻO ka hoʻāʻo mua e hana ʻia he hoʻāʻo mimi. Inā kiʻekiʻe ka pae o ka heparan sulfate i loko o ka mimi o ke keiki, he hōʻailona ia e loaʻa paha ka maʻi Sanfilippo.
- Hoʻāʻo koko: Hana ʻia kahi hoʻāʻo koko e hōʻoia i ka maʻi. Nānā kēia e ʻike inā haʻahaʻa ka hana o ka enzyme pili.
Inā he mau hopohopo kou e pili ana i ka ulu ʻana a i ʻole ke ʻano o kāu keiki, mai hopohopo a hoʻoholo i kāu iho. ʻO ka mea maikaʻi loa e hana ai, ʻo ia ke kamaʻilio me kāu kauka lapaʻau e pili ana i kēia.
He aha nā lāʻau lapaʻau?
ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau no ka maʻi Sanfilippo, no laila ʻo ka pahuhopu nui o nā kauka ke hāʻawi i ka mālama kākoʻo . ʻO ia hoʻi, e kāohi i nā hōʻailona a hāʻawi i ke keiki i ke ola maikaʻi loa no ka lōʻihi e like me ka hiki.
No kēia, hoʻohana ʻia nā ʻano lapaʻau like ʻole a me nā therapies:
- Hoʻōla ʻōlelo-ʻōlelo: He hōʻailona maʻamau ka lohi o ka ʻōlelo. Kōkua kekahi mea hoʻōla ʻōlelo i ke keiki e kamaʻilio me nā huaʻōlelo a me nā kuhi (e.g., nā kāleka kiʻi).
- Lapaʻau hānai: I ka holomua ʻana o ka maʻi, lilo ka nau ʻana a me ke ale ʻana i mea paʻakikī. E hoʻomohala kahi mea lapaʻau hānai i kahi ʻano hana e kōkua ai i ke keiki e ʻai palekana.
- Hoʻōla kino: Kōkua kēia hoʻōla i ke keiki e hele no ka lōʻihi e hiki ai, e noho ikaika, a mālama i ke kaulike. Inā pono, hiki iā ia ke kōkua iā lākou e loaʻa nā lako e like me ka noho huila.
- Hoʻōla hana: Kōkua kēia hoʻōla i ka mālama ʻana i nā mākau motika maikaʻi, e like me ke komo ʻana a me ka paʻa ʻana i nā mea pāʻani, no ka lōʻihi e hiki ai.
Eia kekahi, aia nā lāʻau lapaʻau hoʻokolohua ma ka honua, e like me ka Enzyme Replacement Therapy (ERT) a me ka Gene Therapy.
ʻO ʻoe, ka mea mālama i ke keiki, pono ʻoe e noʻonoʻo iā ʻoe iho.
He kuleana nui ka mālama ʻana i kahi keiki me ia ʻano maʻi laha ʻole. A he mōhai nui ia. He mea maʻamau loa iā ʻoe ke manaʻo i ke kaumaha, ke kaumaha, ke kaumaha, a me ka huhū i kēia huakaʻi.
ʻAʻole pono ʻoe e hele hoʻokahi ma kēia huakaʻi. Me ke kākoʻo kūpono a me ka ʻike, hiki iā ʻoe ke hāʻawi i ka mālama maikaʻi loa no kāu keiki.
No laila, mai poina e noʻonoʻo iā ʻoe iho a me kāu keiki.
- E noi i ke kōkua mai kahi mea āu e hilinaʻi ai.
- E hoʻokaʻawale i kahi manawa nou iho e hoʻomaha iki ai.
- E kamaʻilio e pili ana i kou mau manaʻo me kou ʻohana a i ʻole kāu kauka. Inā pono, e ʻimi i ke kōkua o ke kākāʻōlelo olakino noʻonoʻo.
E hoʻomanaʻo i mea e hāʻawi ai i kāu keiki i ka mea maikaʻi loa, pono mua ʻoe e olakino maikaʻi .
Leka Lawe-Home
- He maʻi laha ʻole ka Sanfilippo Syndrome e hoʻopilikia ana i ke kaʻina hana hoʻopau ʻōpala o ke kino.
- ʻO nā hōʻailona mua e pili ana i ka lohi o ka ulu ʻana, nā pilikia o ka ʻōlelo, ka hyperactivity, a me nā hiʻohiʻona helehelena ʻokoʻa.
- ʻOiai ʻaʻohe lāʻau lapaʻau kūikawā no kēia maʻi, hiki i nā ʻano lapaʻau like ʻole ke kaohi i nā hōʻailona a hāʻawi i ke keiki i kahi ola maikaʻi.
- Inā he kānalua kou e pili ana i ka ulu ʻana o kāu keiki, e nīnau koke aku i kāu kauka lapaʻau no ka ʻōlelo aʻo.
- ʻOiai he paʻakikī ka mālama ʻana i kahi keiki e like me kēia, he mea nui loa iā ʻoe ma ke ʻano he makua ke mālama i kou olakino kino a me ka noʻonoʻo.
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