Hopohopo e pili ana i ka ulu ʻana o ka lolo o kāu keiki? E kamaʻilio kākou e pili ana i ka Metachromatic Leukodystrophy (MLD)

E like me kāu i ʻike ai, ʻokoʻa ka ulu ʻana o kekahi mau keiki liʻiliʻi ma mua o nā mea ʻē aʻe. He mea maʻamau no ka makua ke manaʻo i ka nui o ke kaumaha ke hoʻomaka lākou e hele a kamaʻilio paha, a ʻike lākou i nā lohi iki. I kēia lā e kamaʻilio mākou e pili ana i kahi maʻi genetic i hiki ke hoʻokaumaha like, akā he mea kakaikahi loa. Ua kapa ʻia ʻo ia he metachromatic leukodystrophy, a i ʻole MLD no ka pōkole. ʻOiai ke kani paʻakikī paha ka inoa, e hoʻāʻo kākou e mālama maʻalahi.

He aha kēia leukodystrophy metachromatic (MLD)?

I ka ʻōlelo maʻalahi, he maʻi hoʻoilina laha ʻole ka `(MLD)`. Hoʻopilikia nui ia i ko mākou ʻōnaehana nerve waena, ʻo ia hoʻi, ka mea keʻokeʻo o ka lolo a me ke kaula spinal , a me nā aʻalolo peripheral i loko o ko mākou mau lālā. ʻO `(MLD)` kekahi maʻi ʻē aʻe no ka hui o `(Lysosomal storage diseases)`.

I kēia manawa, ke noʻonoʻo nei paha ʻoe pehea e hōʻino ʻia ai kēia mea keʻokeʻo. Aia kahi mea momona i kapa ʻia ʻo `(Sulfatides)` i loko o kā mākou mau cell. Pono kēia e haki maʻamau. Akā i loko o ke kanaka me `(MLD)`, hōʻiliʻili kēia mau `(Sulfatides)` i loko o nā cell. Ke hōʻiliʻili kēia, ʻaʻole e ulu pono ka `(myelin sheath)`, ʻo ia ka uhi pale a puni nā olonā nerve. Ua like kēia myelin sheath me ka plastic sheath a puni kahi uea. ʻO kēia myelin ka mea e hāʻawi i ka mea keʻokeʻo i kona kala keʻokeʻo.

No laila, he aha ka mea e hana ʻia ke hōʻino ʻia kēia ʻupena myelin? ʻO kā mākou hana noʻonoʻo a me ka hana neʻe, ʻo ia hoʻi, ka neʻe ʻana o nā ʻiʻo, e emi mālie ana. ʻOi aku ka koʻikoʻi o nā hōʻailona o ka ``(MLD)`` i ka hala ʻana o ka manawa, a i nā manawa he nui, hiki ke make i loko o kekahi mau makahiki o ka ʻike ʻia ʻana.

Ua kapa ʻia kēia he metachromatic leukodystrophy no kekahi kumu kūikawā. Ke nānā aku kahi pathologist iā ia ma lalo o kahi microscope, ʻokoʻa ka omo ʻana o nā cell me kēia mau sulfatides i ke kala ma mua o nā cell ʻē aʻe a puni lākou. ʻO ia ke kumu i kapa ʻia ai ʻo "metachromatic." ʻO "Leukodystrophy" ʻo ia hoʻi ka luku mālie ʻana o ka mea keʻokeʻo ("leuco" ʻo ia hoʻi ke keʻokeʻo, a ʻo "dystrophy" ʻo ia hoʻi ka palaho).

He aha nā ʻano nui o `(MLD)`?

ʻEkolu mau ʻano nui o kēia maʻi (MLD). Ua māhele ʻia kēia mau mea e like me ka makahiki o ko lākou ulu ʻana.

MLD pēpē hope loa

ʻO kēia ke ʻano maʻamau o MLD. Hoʻopilikia pinepine ia i nā pēpē ma waena o 12 a me 20 mau mahina o ka makahiki, a i ʻole ma kahi o hoʻokahi makahiki a me ka hapa. ʻO nā hōʻailona e pili ana i ka paʻakikī o ka hele wāwae, ka lohi o ka ulu ʻana, ka makapō, a me ka dementia. ʻO ka mea kaumaha, ʻo ka hapa nui o nā keiki me kēia maʻi e make ma mua o 5 mau makahiki. Ma kahi o 50% a 60% o nā maʻi MLD e hāʻule i loko o kēia māhele.

ʻO ka MLD ʻōpio (MLD)

ʻO kēia ʻano maʻamauHoʻopilikia ia i nā keiki ma waena o 3 a me 10 mau makahiki. Hiki i kēia mau keiki ke hōʻike i nā hōʻailona e like me ke kīnā noʻonoʻo, nā pilikia pili i ke ʻano, nā hopu ʻana, a me ka dementia. Hiki i kahi keiki me kēia ʻano MLD ke make i loko o 10 a 20 mau makahiki o ka hōʻoia ʻana. Ma kahi o 20% a 30% o nā maʻi MLD e hāʻule i loko o kēia māhele.

MLD makua

Hoʻomaka pinepine ia ma hope o ka makahiki 16, ʻo ia hoʻi, i ka wā ʻōpio a ma hope paha. ʻO nā hōʻailona e komo pū me nā loli noʻonoʻo, nā hopu ʻana, a me ka dementia. Hiki ke make ma waena o 6 a me 14 mau makahiki ma hope o ka ʻike ʻia ʻana. Ma kahi o 15% a 20% o nā maʻi MLD e hāʻule i loko o kēia māhele.

Pehea ka laha ʻole o ka maʻi `(MLD)`?

ʻAe, he maʻi laha ʻole ka MLD. Wahi a nā kānaka noiʻi, hoʻopilikia ia ma kahi o hoʻokahi i loko o 40,000 poʻe ma ʻAmelika Hui Pū ʻIa. Eia nō naʻe, ʻoi aku ka maʻamau i kekahi mau heluna kanaka kaʻawale. No ka laʻana, ua ʻike ʻia he hoʻokahi i loko o 2,500 poʻe ka nui o ka poʻe Navajo.

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

Hiki ke ʻokoʻa nā hōʻailona o MLD ma muli o ke ʻano. Akā ma ke ʻano laulā, hoʻopilikia mālie nā ʻano āpau i ka hana o ka ʻōnaehana nerve. ʻO ia hoʻi, ua hoʻopilikia ʻia nā mea e like me ka neʻe ʻana o nā ʻiʻo, ka naʻauao, ke ʻano, a me ke ʻano pilikino.

Nā hōʻailona o ka MLD o nā keiki hope loa

ʻIke ʻia paha nā pēpē me kēia ʻano `(MLD)` e ulu maʻamau ana, akā ma hope o hoʻokahi makahiki, hoʻomaka lākou e hōʻike i kēia mau hōʻailona:

• Ua paʻakikī ke hele , a ma hope ua lilo i mea hiki ʻole ke hele.
• Hoʻomaka ka nāwaliwali o nā ʻiʻo (hypotonia).
• ʻIke ʻia nā lohi o ka hoʻomohala ʻana .
• Paʻakikī i ka ʻōlelo ʻana (dysarthria).
• Mālie , nalowale ka ʻike a hiki mai ka makapō.
• Ka paʻakikī i ke ale ʻana (dysphagia).
• Hiki mai ka dementia.

Nā hōʻailona o ka MLD ʻōpio

Hiki i nā keiki me kēia ʻano MLD ke hōʻike i nā hōʻailona e like me:

• E emi ana nā mākau noʻonoʻo. Hiki ke ʻike ʻia kēia ma nā haʻawina kula.
• Kū mai nā pilikia o ka hana .
• ʻIke ʻia nā loli o ke ʻano kanaka.
• ʻAʻole hiki ke kāohi i ka neʻe ʻana o nā ʻiʻo.
• Hoʻomaka ka neuropathy peripheral.
• Ke hiki mai nei nā ʻōhū.
• Hiki mai ka dementia.

Nā hōʻailona o ka MLD makua

ʻO nā loli noʻonoʻo nā hōʻailona nui i ʻike ʻia i nā pākeke me MLD.ʻAʻohe paha a liʻiliʻi paha nā pilikia neʻe kino. ʻO nā hōʻailona mua paha, ʻo ia ka maʻi hoʻohana waiʻona, ka maʻi hoʻohana mea ʻona, a i ʻole nā ​​pilikia ma ke kula/hana.

ʻO nā hiʻohiʻona ʻē aʻe:

• Nā pilikia noʻonoʻo, e like me nā hallucinations, psychosis, a i ʻole schizophrenia .
• Nā ʻōʻili.
• ʻO ka neuropathy peripheral.
• Ka maʻi noʻonoʻo.

I kekahi manawa, kuhi hewa paha nā kauka i ka MLD i nā pākeke me he maʻi bipolar a i ʻole dementia.

He aha ke kumu o ka `(MLD)`?

ʻO ke kumu nui o MLD he hoʻololi ʻana o ka gene i hoʻoilina ʻia mai nā mākua ʻelua.

He nui nā maʻi MLD i loaʻa kahi mutation i loko o ka gene ARSA. Kuhikuhi kēia gene i ka hana ʻana o kahi enzyme i kapa ʻia ʻo Arylsulfatase A. Kōkua kēia enzyme i ka wāwahi ʻana i nā sulfatides i ʻōlelo ʻia ma luna. No laila, ma muli o ka mutation gene, ʻaʻole hana ka poʻe me MLD i kēia enzyme, a hana iki paha. ʻO ka hopena, hōʻiliʻili nā sulfatides. He mea ʻawahia kēia hōʻiliʻili ʻana o nā sulfatides i ka mea keʻokeʻo o ka ʻōnaehana nerve, e hōʻino ana i kēlā mau cell.

Hiki i kekahi mau maʻi MLD ke loaʻa nā mutations i loko o ka gene PSAP, kahi e hāʻawi pū ai i nā ʻōlelo kuhikuhi no ka wāwahi ʻana i nā sulfatides.

He mea anei kēia i loaʻa mai i nā genes?

ʻAe, he maʻi hoʻoilina ʻo `(MLD)`. Hoʻoilina ʻia ia ma ke ʻano `(autosomal recessive)`. ʻO ke ʻano kēia, loaʻa i nā mākua ʻelua o ke kanaka me kēia maʻi hoʻokahi kope o kēia gene i hoʻololi ʻia (`(carriers)`). Eia naʻe, ʻaʻole hōʻike pinepine kēlā mau mākua i nā hōʻailona. I mea e loaʻa ai i kahi keiki ka maʻi, pono e hoʻoilina ʻia kēia gene kīnā mai ka makuahine a me ka makuakāne.

He aha nā hopena ʻaoʻao e hiki mai ana o ka `(MLD)`?

ʻO nā hopena ʻaoʻao nui e hiki ke kū mai ma muli o ka `(MLD)`:

• Ka emi ʻana o ka neurocognitive (dementia)
• Makapō ma muli o ka atrophy o ke aʻalolo optic.
• Ka ʻai pono ʻole.
• Hoʻokumu ʻia ka niumonia aspiration e ka meaʻai a i ʻole nā ​​​​wai e komo ana i ke alaloa .
• Ka make.

Pehea e ʻike ʻia ai ka MLD?

Inā kānalua kekahi kauka (ʻo ia hoʻi he neurologist) iā MLD ma muli o kāu mau hōʻailona a kāu keiki paha, hiki iā lākou ke kauoha i nā hoʻokolohua e like me:

• Ka hoʻāʻo ʻana i ka hoʻoilina: Hiki i kēia ke ʻike i nā hoʻololi ʻana i loko o nā genes "ARSA" a me "PSAP" e hoʻoulu ai i ka "MLD".
• Hoʻāʻo biochemical:Hiki i kēia ke ana i ka pae o nā `(Sulfatides)` i loko o kou kino. No ka laʻana, hoʻāʻo ʻia ka hana enzyme `(Sulfatase)` a me nā pae `(Sulfatides)` i loko o ka mimi.
• MRI lolo: Kōkua kēia i ka hōʻoia ʻana i ka maʻi MLD. ʻOiai he ʻano kikoʻī ko ka poʻe me MLD o ka nalowale ʻana o ka myelin, hiki ke hoʻohana ʻia kahi MRI e hoʻoholo ai inā loaʻa ka myelin a ʻaʻole paha.

Ke ʻike ʻia ʻoe me MLD, e noi ʻia paha ʻoe e hana i nā hoʻokolohua hou aʻe e ʻike i ka nui o ka hopena o ka maʻi i kāu ʻōnaehana nerve. ʻO kēia mau mea:

• Ka hoʻāʻo ʻana o ka neurocognitive.
• Ka hoʻāʻo ʻana o ka neuropsychological.
• Nā hoʻāʻo hoʻoili aʻalolo.

He aha nā lāʻau lapaʻau no ka `(MLD)`?

ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau no MLD. ʻO ka pahuhopu nui o ka mālama ʻana, ʻo ia ke kāohi i nā hōʻailona a hoʻomaikaʻi i ke ʻano o ke ola. Hiki i nā kauka ke ʻōlelo aku i nā hoʻoili cell stem e hoʻolohi i ka holomua o ka maʻi, ma mua o ka ʻike ʻia ʻana o nā hōʻailona a i ʻole i nā keiki me nā hōʻailona liʻiliʻi.

Hiki ke hāʻawi ʻia nā ʻano lāʻau like ʻole e kāohi i nā hōʻailona, ​​​​e like me:

• Nā lāʻau anticonvulsant no ka hopu ʻana.
• E hōʻemi i ka ʻoʻoleʻa o nā ʻiʻo (spasticity) (nā mea hoʻomaha ʻiʻo).
• Nā lāʻau antidepressants no nā pilikia noʻonoʻo.
• Nā NSAID a me nā lāʻau ʻeha ʻē aʻe no ka ʻeha.

ʻO nā lāʻau lapaʻau ʻē aʻe e hiki ke hoʻohana ʻia:

• Hoʻoikaika kino e hōʻemi i ka ikaika a me ka ʻoʻoleʻa o nā ʻiʻo.
• ʻO ka hana lapaʻau e kōkua i nā hana o kēlā me kēia lā.
• ʻŌlelo lapaʻau no nā pilikia o ka ʻōlelo ʻana a me ke ale ʻana.
• ʻO ka Psychotherapy no nā pilikia olakino noʻonoʻo.
• ʻO ka gastronomy endoscopic Percutaneous (PEG) kahi ala e hānai ai ma o kahi paipu i loko o ka ʻōpū no nā maʻi ʻai a me nā pilikia meaʻai.

Hiki paha iā ʻoe a i ʻole kāu keiki ke kūpono no ka mālama palliative . ʻO ka mālama palliative ka mālama e hāʻawi ana i ka hōʻoluʻolu mai nā hōʻailona, ​​​​ka hōʻoluʻolu, a me ke kākoʻo no ka poʻe me nā maʻi koʻikoʻi e like me MLD. Hāʻawi pū ia i ka hōʻoluʻolu nui i ka poʻe e mālama ana i ka mea maʻi. Hiki ke hana ʻia me nā lāʻau lapaʻau ʻē aʻe no MLD.

He aha ka mea e hiki mai ana i kahi kanaka i loaʻa i ka maʻi `(MLD)`? (Ka Holomua o ka maʻi)

ʻAʻole maikaʻi loa ka wānana no MLD. He maʻi holomua ia. ʻO ke ʻano kēia, ua laha a ʻoi aku ka ʻino o nā hōʻailona. Ua nalowale loa ka hana ʻiʻo a me ka noʻonoʻo o ke kanaka me MLD, a make hope loa.

ʻEhia ka lōʻihi e hiki ai iā ʻoe ke ola me ka `(MLD)`?

ʻO ka lōʻihi o ke ola ʻana o kekahi me MLD e pili ana i ka makahiki i ʻike mua ʻia ai ka maʻi.

• ʻAno pēpē hope loa:ʻO ka maʻamau, hiki mai ka make i loko o ʻelima a ʻeono mau makahiki o ka maʻi.
• ʻAno ʻōpio: ʻAʻole maʻamau kēia ʻano o ka maʻi a ʻo ka hopena pinepine i ka make i loko o 10 a 20 mau makahiki o ka hōʻoia ʻana.
• ʻAno makua: ʻO ka maʻamau, make ka make ma waena o 6 a me 14 mau makahiki ma hope o ka hōʻoia ʻana.

Aia kekahi ala e pale aku ai i ka `(MLD)`?

No ka mea, he maʻi hoʻoilina ʻo MLD, ʻaʻohe mea hiki ke hana ʻia e pale aku ai.

Eia nō naʻe, inā loaʻa i kekahi o kou ʻohana ka MLD a ke hoʻolālā nei ʻoe e loaʻa kahi keiki, he manaʻo maikaʻi e ʻimi i ka ʻōlelo aʻoaʻo genetic e ʻike ai inā he mea lawe pū ʻoe i kēia hoʻololi genetic.

Pehea ʻoe e mālama ai i kekahi me `(MLD)`? / He aha kāu e hana ai inā loaʻa iā ʻoe a i ʻole kāu keiki ka `(MLD)`?

Inā loaʻa iā ʻoe a i ʻole kāu keiki ka MLD, he mea nui e loaʻa ka mālama olakino maikaʻi loa. Pono ʻoe e kākoʻo no ia mea a makemake nui iā ia. A laila wale nō hiki iā ʻoe ke mālama i ke ʻano maikaʻi loa o ke ola.

Eia kekahi, he mea waiwai nui ke komo ʻana i kahi hui kākoʻo e hālāwai me nā poʻe ʻē aʻe i loaʻa nā ʻike like me ʻoe a kaʻana like i nā manaʻo.

Āhea ʻoe e ʻike ai i ke kauka?

Inā loaʻa iā ʻoe a i ʻole kāu keiki ʻo MLD, pono ʻoe e hālāwai pinepine me kāu hui lapaʻau e ʻike i ke ʻano o ka holomua ʻana o ka maʻi a hoʻololi i kāu hoʻolālā lapaʻau e like me ka mea e pono ai.

Hiki ke paʻakikī ka loaʻa ʻana o kahi maʻi (MLD). Eia nō naʻe, hiki i kāu hui mālama ola ke kōkua iā ʻoe e hoʻomohala i kahi hoʻolālā hoʻokele hōʻailona e kūpono iā ʻoe. He mea nui e hōʻoia i ka loaʻa ʻana o ke kākoʻo āu e pono ai a e noho ma luna o kou olakino. E hoʻomanaʻo, aia mau kāu hui mālama ola e kōkua iā ʻoe a me kou ʻohana.

Inā mākou e hoʻohui i nā mea a mākou i kamaʻilio ai (Leka Lawe-Home)

ʻAe, ua kamaʻilio nui mākou e pili ana i ka `(Metachromatic Leukodystrophy - MLD)` i kēia lā, ʻeā?

I ka ʻōlelo maʻalahi, he maʻi laha ʻole ka `(MLD)`. Hoʻopōʻino ia i ka mea keʻokeʻo o ka lolo a me ka ʻōnaehana nerve. Hoʻokumu ʻia ia e ka hōʻiliʻili ʻana o kahi ʻano momona i kapa ʻia ʻo `(Sulfatides)` i loko o nā cell.

ʻEkolu ʻano o kēia maʻi - pēpē, pākeke, a me nā keiki. He ʻokoʻa nā hōʻailona a me ka holomua o kēlā me kēia.

ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau no kēia maʻi. Eia nō naʻe, aia nā ʻano lāʻau like ʻole e hiki ke kōkua i ka kaohi ʻana i nā hōʻailona a mālama i kahi ola maikaʻi. Hiki i nā hoʻoili cell kumu ke kōkua i ka kaohi ʻana i ka laha ʻana o ka maʻi.

ʻOiai he maʻi hoʻoilina kēia a ʻaʻole hiki ke pale ʻia, he mea nui ka ʻōlelo aʻoaʻo hoʻoilina inā he mōʻaukala ʻohana.

ʻO ka mea nui loa, ʻo ia ka hāʻawi ʻana i ka mālama maikaʻi loa a me ke kākoʻo no ke kanaka me ka maʻi.He waiwai nui ka mālama olakino kūpono, ka mālama palliative, a me ke aloha a me ka nānā ʻana o ka ʻohana. ʻAʻole ʻoe hoʻokahi, a aia nā kauka, nā kākāʻōlelo, a me nā hui kākoʻo e kōkua iā ʻoe ma kēia huakaʻi.

ʻO ka leukodystrophy metachromatic, MLD, nā maʻi genetic, nā maʻi neurological, keʻokeʻo mea, myelin, nā maʻi pediatric