Loaʻa i kāu keiki liʻiliʻi kēia maʻi laha ʻole? (Infantile Neuroaxonal Dystrophy - INAD) E makaʻala kākou i kēia!

I kēia lā, e kamaʻilio mākou e pili ana i kahi maʻi laha ʻole i lohe ʻole ʻia e nā mākua he nui, akā pili ia i nā keiki. Ua kapa ʻia ʻo ia ʻo `(Infantile Neuroaxonal Dystrophy)` a i ʻole `(INAD)` no ka pōkole. ʻOiai paha he mea weliweli iki kēia inoa, he mea nui loa ia e ʻike e pili ana i ia mea. No ka mea, inā ʻike ʻoe i kekahi mau loli i kāu keiki liʻiliʻi, pono ʻoe e ʻimi koke i ke kōkua lapaʻau.

He aha ka `(Infantile Neuroaxonal Dystrophy - INAD)`? E hoʻomaopopo maʻalahi kākou!

I ka ʻōlelo maʻalahi, he maʻi hoʻoilina kakaikahi loa ʻo `(INAD)` e hoʻopilikia ana i kā mākou ʻōnaehana nerve. ʻO ka mea e hana ʻia ma kēia, ʻo ia ke kūkulu ʻia ʻana o kahi ʻano momona, i kapa ʻia ʻo `(lipids),` i loko o nā hunaola nerve me ke kumu ʻole. E noʻonoʻo e like me nā kaula e lawe ana i nā leka i loko o ko mākou kino. Ke kūkulu ʻia nā momona i loko o kēia mau kaula, ʻaʻole e holo pono kēlā mau leka.

He aha ka mea e hana ʻia i kēlā manawa?

ʻO kēia ke kumu e nalowale ai ke kaohi o ke keiki i nā ʻiʻo , nalowale ka ʻike , paʻakikī i ka ʻōlelo ʻana , a ua pilikia ka ulu ʻana o ka noʻonoʻo . ʻO ka hapa nui, ʻike ʻia kēia mau hōʻailona i ka wā kamaliʻi (ma mua o 3 mau makahiki). Eia nō naʻe, i kekahi manawa hiki ke ʻike ʻia kēia mau hōʻailona ma hope iki, ʻo ia hoʻi, i ka wā ʻōpio.

He maʻi kēia no ka māhele o `(lipid storage disorder).` ʻO ia hoʻi, he kūlana e kū mai ana ma muli o ka mālama ʻana o nā momona i loko o ke kino. ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau piha no kēia maʻi hoʻoweliweli ola i kapa ʻia ʻo `(INAD).`

He aha ka `(Lipid storage disorder)`?

ʻO nā maʻi mālama lipid he hui ia o nā maʻi e pili ana i ka māhele o nā maʻi metabolic hoʻoilina. I ka ʻōlelo maʻalahi, hoʻopilikia lākou i kā mākou metabolism , ke kaʻina hana e hoʻololi ai mākou i ka meaʻai a mākou e ʻai ai i ikehu a hoʻopau i nā huahana ʻōpala mai ko mākou kino.

He mau mea momona nā lipid i loaʻa i loko o kā mākou mau pūnaewele, ʻoi aku hoʻi i loko o ka ʻupena myelin e uhi ana i nā aʻalolo i loko o ka lolo a me ke kaula spinal. He mea nui loa lākou no kā mākou ʻōnaehana nerve . ʻO ka poʻe me ka maʻi mālama lipid, ua mālama ʻia kēia mau lipid i loko o ko lākou kino ma kahi o ka hoʻohana pono ʻia.

ʻO nā maʻi mālama lipid e like me INAD he mau maʻi holomua . ʻO ia hoʻi, i ka hōʻiliʻili ʻana o nā lipids i loko o ke kino, e ʻoi mālie ana nā hōʻailona.

He aha ka manaʻo o ka inoa "Infantile Neuroaxonal Dystrophy"?

ʻO ka hoʻomaopopo ʻana i nā huaʻōlelo ma kēia inoa e kōkua i ka hoʻomālamalama iki ʻana i ka maʻi:

• ʻŌpiopio: ʻO ka `(INAD)` he ʻano ia e kū nei i ka wā hānau (`(maʻi hānau)`). ʻIke pinepine ʻia nā hōʻailona i ka wā kamaliʻi, ma mua o 3 mau makahiki.
• Neuroaxonal: Hoʻopilikia kēia maʻi i nā axons o nā hunaola nerve. Lawe kēia mau axons i nā leka mai ka lolo i nā ʻāpana ʻē aʻe o ke kino.
• Dystrophy: ʻO "Dytrophy" ka huaʻōlelo lapaʻau no ka nāwaliwali mālie a me ka hoʻopau ʻana o nā ʻiʻo, nā ʻōpū, a me nā ʻiʻo.

He aha nā inoa ʻē aʻe no `(INAD)`?

Ua kapa pū kekahi mau kauka i kēia maʻi ʻo "Seitelberger's disease," ma muli o ke kauka nāna i wehewehe mua i ka maʻi i nā makahiki 1950. Hiki ke kapa ʻia hoʻi ʻo `(PLA2G6-associated neurodegeneration)` a i ʻole `(PLAN)`.

He aha nā ʻano nui o `(INAD)`?

ʻO ka dystrophy neuroaxonal infantile ke ʻano maʻamau o kēia maʻi. Ua kapa pū nā kauka iā ia ke ʻano maʻamau o INAD. E like me ka inoa e hōʻike nei, hoʻomaka nā hōʻailona i ka wā kamaliʻi.

Aia kekahi ʻano ʻē aʻe, i kapa ʻia ʻo `(atypical INAD (aNAD))`. I kēia hihia, ʻike ʻia nā hōʻailona ma kahi o 4 mau makahiki, i kekahi manawa ma hope aku, i ka wā ʻōpio. Loaʻa paha i kēia mau keiki ka lohi o ka ʻōlelo ʻana , a i ʻole e like me he `(autism spectrum disorder)`. ʻAʻole maʻamau kēia ʻano maʻi.

Pehea ka maʻamau o ka `(INAD)`?

He maʻi laha ʻole loa kēia, e hoʻopilikia ana paha i hoʻokahi i loko o hoʻokahi haneli tausani a ʻelua miliona mau keiki.

He aha ke kumu o ka hoʻokumu ʻia ʻana o `(INAD)`?

Hoʻoilina nā keiki me ka `(INAD)` i kahi loli (mutation) i loko o ka gene `(PLA2G6)` mai nā mākua ʻelua. Kōkua kēia gene i ka hana ʻana i kahi `(enzyme)` (kahi ʻano protein) i kapa ʻia ʻo `(A2 phospholipase)`. Hoʻopau kēia `(enzyme)` i kahi ʻano momona i kapa ʻia ʻo `(phospholipids)`. Ke hana pono ʻia ka metabolism momona, olakino nā hunaola nerve.

I nā keiki me ka `(INAD)`, hoʻopilikia kēia gene `(PLA2G6)` i hoʻololi ʻia i ka hana ʻana a me ka hana o kēlā `(enzyme)`. A laila, hoʻomaka nā mea poepoe i kapa ʻia ʻo `(spheroid bodies)` e waiho i loko o nā aʻalolo. Hoʻokomo pinepine ʻia kēia mau mea i loko o nā hopena aʻalolo e pili ana i nā maka, nā ʻiʻo, a me ka ʻili. Eia kekahi, hiki ke waiho ʻia ka hao i loko o ka lolo.

ʻO wai ka mea e pilikia ana i ka loaʻa ʻana o ka `(INAD)`?

He maʻi autosomal recessive ka infantile neuroaxonal dystrophy. ʻO ia hoʻi, i mea e loaʻa ai i kahi keiki ka maʻi, pono i nā mākua ʻelua ke hoʻoilina i kahi kope o ka gene PLA2G6 i hoʻololi ʻia. A laila, ʻo nā mākua o ke keiki nā mea lawe o ka gene i hoʻololi ʻia, akā, ʻaʻole lākou e loaʻa i ka maʻi.

E noʻonoʻo, inā he mau mea lawe kēia gene mutant i nā mākua ʻelua, loaʻa i kēlā me kēia keiki a lāua kēia hiki:

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* Aia he 1 i loko o 4 ka manawa kūpono e loaʻa ai kahi keiki olakino me ka ʻole o ka hoʻoilina ʻana i ka gene mutant.

* Aia he 1 i loko o 4 manawa kūpono e hānau ʻia me ka maʻi `(INAD)`.

* Aia he 1 i loko o 2 ka manawa kūpono e loaʻa ʻole ai ka maʻi, akā he mea lawe ia o ka gene i hoʻololi ʻia.

He aha nā hōʻailona o ka maʻi `(INAD)`?

I ka hihia INAD maʻamau, hiki i kāu pēpē ke ulu maʻamau mai nā mahina 6 mua a hiki i kahi o 3 mau makahiki.ʻO ia hoʻi, hoʻomaka nā mea e like me ka noho ʻana, ke kolo ʻana, ka hele ʻana, a me ke kamaʻilio ʻana ma ke ʻano maʻamau. A laila, liʻiliʻi iki, e nalowale ana kēia mau mākau i aʻo ʻia . ʻO ke kumu o kēia, ʻo ia ka hoʻopau pinepine ʻana o nā ʻiʻo. ʻO ka hopena, ʻike ʻia ka nāwaliwali o nā ʻiʻo (`(hypotonia)`), ʻo ia hoʻi ke kino palupalu, ʻoiai ma ka ʻāpana o ke kino. I ka holomua ʻana o ka maʻi, hiki ke loaʻa ka paʻakikī o nā ʻiʻo (`(spasticity)`).

Hiki i nā keiki me INAD ke ʻike i nā hōʻailona e like me:

• `(Ataxia)` (nā pilikia me ke kaulike a me ka hoʻonohonoho ʻana o nā neʻe ʻana)
• Ka paʻakikī i ka moni ʻana (dysphagia)
• Ka hemahema o ka lohe
• ʻAʻole hiki ke hoʻopaʻa pololei i ke poʻo, hiki ʻole ke kaohi i ke poʻo
• Ka nalowale o ka hoʻomanaʻo a me ka naʻauao, hiki ke holomua i ka dementia
• Nā hopu ʻana
• Ka paʻakikī o ka ʻōlelo ʻana ma muli o ka nāwaliwali o nā ʻiʻo (dysarthria)
• ʻO nā pilikia maka ʻē aʻe, e like me ka strabismus, ka ʻūlū ʻana o ka maka (nystagmus), a i ʻole ka nalowale o ka ʻike

Hiki i nā pēpē me `(INAD)` ke loaʻa kekahi mau hiʻohiʻona helehelena kikoʻī i ʻike ʻia i ka wā hānau:

• Nā maka keʻa (strabismus)
• Nā pepeiao nui, haʻahaʻa
• Lae e kūlou ana
• He ihu liʻiliʻi a ʻauwae paha

Pehea e ʻike ʻia ai ka maʻi `(INAD)`?

Inā loaʻa i kekahi o kou ʻohana kēia maʻi, hiki i kahi hoʻāʻo prenatal ke ʻike inā ua hoʻoilina ka pēpē i kēia mutation. ʻO kahi hoʻāʻo i kapa ʻia ʻo Chorionic Villus Sampling (CVS) e lawe i nā pūnaewele mai ka placenta a nānā i ka mutation gene.

Eia nā hoʻokolohua i hana ʻia ma nā pēpē, nā keiki, a me nā pākeke:

• He hoʻāʻo koko e nānā ana i ka gene `(PLA2G6)` i hoʻololi ʻia. Hiki i kēia hoʻāʻo genetic ke ʻike i 8 mai loko mai o 10 mau keiki me `(INAD).`
• ʻO kahi hoʻāʻo "Electroencephalogram - EEG" e nānā ai i nā hopu ʻana.
• ʻO kahi scan MRI e ʻike i nā loli i loko o ka lolo.
• Nā hoʻokolohua e like me ka electromyogram (EMG) e ana i ka hana aʻalolo.
• He hoʻāʻo (`(biopsy)`) e lawe ana i kahi ʻāpana liʻiliʻi o ka ʻili a i ʻole ke aʻalolo. Hoʻohana ʻia kēia e nānā i ke alo o nā `(spheroid bodies)` i loko o nā axons nerve (`(axons)`).

Pehea e mālama ʻia ai ka Infantile Neuroaxonal Dystrophy (INAD)?

ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau no ka Infantile Neuroaxonal Dystrophy. Ke nānā nei nā lāʻau lapaʻau o kēia manawa i ka kaohi ʻana i nā hōʻailona a me ke kōkua ʻana i ke keiki e ʻoluʻolu e like me ka hiki. ʻO kēia mau lāʻau lapaʻau:

• Nā lāʻau hoʻōla ʻōʻili
• He ʻōmole hānai (meaʻai enteral)
• Lāʻau lapaʻau e hoʻomaha ai i nā ʻiʻo paʻakikī
• Nā lāʻau hoʻopau ʻeha
• Ka hoʻoikaika kino a me ke kūlana kūpono e kākoʻo i ke poʻo o ke keiki a me nā ʻiʻo nāwaliwali
• Nā lāʻau hoʻomaha

He aha nā lāʻau lapaʻau hou i hoʻomohala ʻia no ka `(INAD)`?

Ke hana nei nā loea lapaʻau i nā noiʻi a me nā hoʻokolohua lapaʻau e ʻimi i nā ala hou e hoʻōki ai i ka laha ʻana o kēia maʻi a hiki ke ho'ōla iā ia. ʻO nā lāʻau lapaʻau e hoʻomohala ʻia nei:

• ʻO ka lāʻau hoʻololi enzyme (ka hāʻawi ʻana i ka enzyme hemahema ma waho)
• `(Lapaʻau Gene)` (Lapaʻau Gene)

Hiki ke pale ʻia ka maʻi `(INAD)`?

Inā loaʻa iā ʻoe a me kāu hoa ka hoʻololi ʻana o ka gene e hoʻoulu ai i ka INAD (ʻo ia hoʻi, inā he mau mea lawe ʻolua ʻelua), hiki iā ʻoe ke hālāwai me kahi kākāʻōlelo genetic e kamaʻilio e pili ana i nā ala e pale aku ai i ka hoʻoili ʻia ʻana i kāu mau keiki. ʻO kekahi koho i kapa ʻia ʻo Preimplantation Genetic Diagnosis (PGD). Ma kēia, koho ʻia a hoʻokomo ʻia nā embryos i hana ʻia ma o IVF (in vitro fertilization) i loko o ka ʻōpū.

He aha nā manaʻolana e hiki mai ana no kahi keiki me `(INAD)`?

ʻIke ʻia paha he keiki pane koke a makaʻala loa kahi pēpē me ka `(INAD)` i nā makahiki mua. Akā i ka holomua ʻana o ka maʻi, e ʻike paha ʻoe e emi mālie ana ka ʻike o ke keiki, ka ʻōlelo, nā mākau neʻe, a me ka hiki ke launa pū me nā poʻe ʻē aʻe. Hiki i ka maʻi ke hoʻopilikia i ka ʻōnaehana hanu . Hiki i kēia ke alakaʻi i nā maʻi hanu e like me ka `(pneumonia)`. ʻO ka hapa nui o nā keiki me ka `(INAD)` e make ma mua o ka 10 o ko lākou mau makahiki .

Hoʻomaka nā keiki me ke ʻano maʻamau ʻole (aNAD) e hoʻomohala i nā hōʻailona ma waena o nā makahiki 7 a me 12. ʻOiai ʻoi aku ka lōʻihi o ko lākou ola ma mua o nā keiki me ke ʻano maʻamau (INAD), ua pōkole hoʻi ko lākou ola.

ʻO ka mālama ʻana i kahi keiki me ia maʻi koʻikoʻi he mea koi nui ia i ka noʻonoʻo a me ke kino . Aia nō hoʻi ʻoe i ka pilikia o ka loaʻa ʻana o nā pilikia e like me ke kaumaha a me ke kaumaha. No laila, e hōʻoia e noi i ke kōkua, e hoʻokaʻawale i ka manawa nou iho, a e hoʻāʻo e ʻimi i ka hauʻoli i nā mea liʻiliʻi e lawe mai iā ʻoe i ka hauʻoli me kou ʻohana .

Āhea ʻoe e ʻike ai i ke kauka?

E ʻike i ke kauka inā loaʻa i kāu keiki kekahi o kēia mau hōʻailona:

• Nā pilikia me ke kaulike, ka neʻe ʻana, a i ʻole ka hele wāwae
• Paʻakikī ka hanu ʻana
• Ka nāwaliwali o nā ʻiʻo a i ʻole ka ʻūlū ʻana
• Paʻakikī i ka ʻōlelo ʻana a i ʻole ka moni ʻana
• Nā pilikia ʻike a lohe paha

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

He mea maikaʻi ke nīnau i kāu kauka e pili ana i nā mea e like me:

• He aha ke ʻano o ka `(INAD)` a kaʻu keiki?
• He aha nā lāʻau lapaʻau e hiki ke kōkua?
• He aha kā mākou e hana ai ma ka home e hōʻemi i nā hōʻailona?
• ʻO wai nā loea lapaʻau e pono ai mākou e hālāwai me?
• Pono anei e hoʻāʻo ʻia ke koena o koʻu ʻohana no kēia hoʻololi ʻana o ka hoʻoilina?
• He aha nā pilikia e pono iaʻu e makaʻala ai?

ʻO ka mea hope loa, nā mea e hoʻomanaʻo ai (Leka Lawe-Home)

ʻO ka ʻike ʻana ua loaʻa i kāu keiki kahi maʻi hiki ʻole ke hoʻōla ʻia e like me ka Infantile Neuroaxonal Dystrophy (INAD) he hanana hoʻololi ola. Hoʻopilikia kēia maʻi mālama lipid i ka hiki o kāu keiki ke neʻe, ʻike, ʻai, a ʻōlelo. ʻOiai hiki ke mālama ʻia nā hōʻailona a hiki ke hoʻoluʻolu i kāu keiki, ʻaʻohe lāʻau lapaʻau . Eia nō naʻe, ke hana ʻia nei nā noiʻi hou a me nā hoʻokolohua lapaʻau . Inā loaʻa iā ʻoe ka mutation e hoʻoulu ai i ka INAD (he mea lawe), e kamaʻilio me kāu kauka e pili ana i nā ala e hōʻemi ai i ka pilikia o ka hoʻoili ʻana i nā hanauna e hiki mai ana. Mai hele wale, e kiʻi i ke kōkua āu e pono ai .

ʻINAD , dystrophy neuroaxonal pēpē, maʻi mālama lipid, maʻi genetic, maʻi laha ʻole, olakino keiki, neurodegeneration, nā maʻi genetic, nā maʻi laha ʻole, olakino keiki