Ke ʻano wikiwiki nei anei kāu keiki i ka ʻelemakule? E aʻo kākou e pili ana i ka Cockayne Syndrome!

I kekahi manawa, makaʻu loa mākou ke ʻike mākou i kekahi mau loli i ka ulu ʻana o kā mākou mau keiki, ʻeā? ʻOi loa aku hoʻi i ka wā e ʻokoʻa ai ke ʻano o ke keiki mai nā keiki ʻē aʻe, a i ʻole ke ʻike mākou i nā loli kino. I kēia lā, e kamaʻilio mākou e pili ana i kahi maʻi lapaʻau kakaʻikahi akā koʻikoʻi loa e makaʻala. ʻO ia hoʻi ʻo Cockayne Syndrome. E hopohopo paha ʻoe ke lohe ʻoe i kēia inoa, akā e kamaʻilio kākou e pili ana iā ia me ka maʻalahi a me ka maopopo.

He aha maoli ka Cockayne Syndrome?

I ka ʻōlelo maʻalahi, he maʻi hoʻoilina laha ʻole ʻo Cockayne Syndrome. Ma kēia, ʻaʻole ulu maʻamau nā ʻāpana o ke kino o ke keiki, a hōʻike lākou i nā hōʻailona o ka ʻelemakule mua (progeria) . E noʻonoʻo, ʻoiai he keiki liʻiliʻi, hoʻomaka kona helehelena a me kekahi mau hana kino e like me ko kahi ʻelemakule.

Me kēia maʻi, hiki ke ʻike ʻia kekahi mau hōʻailona koʻikoʻi ʻē aʻe:

• ʻIke i ka mālamalama: I ka pololei, ʻā koke ka ʻili i ka wā e hōʻike ʻia ai i ka lā, a ʻoluʻolu ʻole hoʻi nā maka.
• Dwarfism: ʻOi aku ka haʻahaʻa o ke kiʻekiʻe a me ke kaumaha o ke keiki ma mua o ka maʻamau.
• Dementia holomua: I ka hala ʻana o ka manawa, hiki i nā mea e like me ka hoʻomanaʻo a me ka hiki ke aʻo ke emi mālie.

Aia kekahi mau ʻano like ʻole o ka Cockayne Syndrome?

ʻAe, ʻekolu mau ʻano nui o kēia maʻi, kēlā me kēia me kahi hoʻomaka ʻokoʻa a me ke koʻikoʻi o nā hōʻailona.

1. ʻAno 1 (maʻamau): ʻO kēia ke ʻano maʻamau. Hoʻomaka ka ʻike ʻia ʻana o nā hōʻailona ma hope o ka piha ʻana o ke keiki i hoʻokahi makahiki. Hoʻonui mālie kēia mau hōʻailona i ka hala ʻana o ka manawa.

2. ʻAno 2 (hānau): ʻO kēia ke ʻano koʻikoʻi loa. ʻIke ʻia nā hōʻailona i ka wā hānau. Lohi loa ka ulu ʻana o kēia mau keiki.

3. ʻAno 3: He mea kākaʻikahi loa kēia. ʻAʻole koʻikoʻi loa nā hōʻailona. Eia kekahi, ʻike ʻia kēia mau hōʻailona ma hope o ke ola.

Pehea ka maʻamau o kēia ʻano?

He maʻi laha ʻole ka Cockayne Syndrome. Ua hōʻike ʻia e loaʻa wale kēia maʻi i ʻelua a ʻekolu paha o kēlā me kēia miliona o nā pēpē hānau hou ma nā ʻāina e like me ʻAmelika a me ʻEulopa. Hiki ke loaʻa i kēlā mau maʻi i kekahi manawa ma Sri Lanka.

He aha ke kumu o ka Cockayne Syndrome?

He mea paʻakikī iki kēia, akā e wehewehe maʻalahi wau. Aia i loko o nā ʻāpana o ko kākou kino kahi mea i kapa ʻia ʻo 'DNA'. Ua like ia me kahi puke e loaʻa ana nā ʻike āpau e pono ai ko kākou kino e hana. Hiki ke hōʻino ʻia kēia 'DNA' no nā kumu like ʻole. Eia kekahi laʻana:

• Pāhawewe
• Nā kemika ʻawahia
• Ka mālamalama ultraviolet mai ka lā
• Nā molekala paʻa ʻole e hana ʻia i loko o ko mākou kino (nā radical free)

ʻO ka mea maʻamau, i loko o ke kino o ke kanaka olakino, ke hōʻino ʻia kēia "DNA", aia kahi ʻano hana kūikawā e hoʻoponopono ai. E like me ka wā e haki ai kekahi mea i loko o ka hale, hoʻoponopono ʻia.

Eia nō naʻe, i nā keiki me ka Cockayne Syndrome, ʻaʻole hana pono kēia kaʻina hana hoʻoponopono `DNA` (`DNA repair disorder`). ʻO ke kumu o kēia, ʻo ia nā mutations i loko o nā genes `ERCC6` a i ʻole `ERCC8`. Kōkua kēia mau genes i ka hoʻoponopono `DNA`. No laila, ke hana pono ʻole kēia mau genes, hōʻiliʻili ka pōʻino i ka `DNA` me ka ʻole o ka hoʻoponopono ʻia. A laila ʻaʻole hiki i nā cell ke hana pono i kā lākou hana. ʻO ia ke kumu nui o kēia mau hōʻailona āpau.

He aha nā hōʻailona o ka Cockayne Syndrome?

Hiki i kēia maʻi ke hoʻopilikia i nā ʻāpana like ʻole o ke kino. E nānā kākou i ke ʻano o lākou.

Nā hōʻailona e pili ana i ka maka:

ʻO nā maka kekahi o nā ʻōkana i hoʻopilikia nui ʻia e kēia maʻi.

• Ke kala ʻano ʻē o ka retina o ka maka.
• Ke ao ʻana o ka lens o ka maka, e like me ke cataracts.
• Nā maka keʻa (strabismus).
• ʻAʻole hiki ke pani piha i nā lihilihi.
• ʻIke mamao.
• Ua emi nā waimaka mai nā maka mai.
• ʻO ka make ʻana o ka maka.
• Ka nāwaliwali mālie o ka retina (Retina degeneration).
• Nā maka i ʻoi aku ka liʻiliʻi ma mua o ka nui maʻamau (microphthalmia).
• Nā maka i piholo (enophthalmos).

Nā hiʻohiʻona helehelena:

Hiki ke ʻike ʻia kekahi mau hiʻohiʻona kikoʻī ma ke ʻano o ka helehelena.

• ʻOi aku ka nui o ka pala ʻana o nā niho ma muli o ke kūlike ʻole o nā niho.
• Ke nui aʻe nei nā pepeiao pepeiao ma mua o ka maʻamau a ke loli nei ke ʻano.
• Ka liʻiliʻi o ke poʻo (microcephaly).
• Ka lahilahi ʻana o ka ihu.
• Ka puka ʻana o nā ʻā o luna a me lalo (prognathism).

Nā pilikia e pili ana i ka hormone:

• Ka lohi o ka wā ʻōpiopio.
• Nā pilikia hānau keiki.
• Nā testicles i iho ʻole i nā keikikāne.

Nā ʻano e pili ana i ka ʻōnaehana nerve a me ka ulu ʻana:

He hopena nui kēia i nā hana o kēlā me kēia lā a ke keiki.

• ʻOʻoleʻa ʻiʻo maʻamau ʻole (spasticity).
• Ka emi mālie ʻana o nā mākau noʻonoʻo.
• Nā lohi o ka ulu ʻana (e.g., lohi ka hele wāwae, kamaʻilio ʻana).
• Ka paʻakikī i ka ʻōlelo ʻana (aphasia).
• Haʻalulu o nā lālā (Haʻalulu koʻikoʻi).
• Nā pilikia me ka neʻe ʻana a me ka hoʻonohonoho ʻana (ataxia).
• Nā pilikia aʻo.
• Nā kūlana epilepsy `(Nā hopu)`.

Nā hōʻailona pili i ka ʻili:

• Ka emi ʻana o ka hou ʻana (anhidrosis).
• Ua maʻalahi ka ʻeha a me ka palapū o ka ʻili.
• Ke anuanu nei ke pā ʻana i ka ʻili.
• ʻO ke kala polū o ka ʻili (cyanosis) (ʻoi aku hoʻi ma nā lālā).

Nā hopena ʻē aʻe:

• Ke koko kiʻekiʻe.
• Nā waihona momona a puni ka puʻuwai (atherosclerosis).
• Ka hoʻonui ʻia ʻana o ke akepaʻa.
• Ka hina mua ʻana o ka lauoho.
• ʻO ke kiʻekiʻe a me ke kaumaha ma lalo loa o ka pae maʻamau (dwarfism).
• Ka hemahema o ka lohe.
• Nā hono nui.
• Ka emi ʻana o nā ʻiʻo.
• ʻO ke kīposis.
• Nā lima a me nā wāwae lōʻihi loa i ka hoʻohālikelike ʻia me ke kino pōkole.

Mea nui: ʻAʻole e ʻike ʻia kēia mau hōʻailona a pau i kēlā me kēia keiki, a ʻokoʻa paha ke koʻikoʻi o nā hōʻailona mai kekahi keiki a i kekahi keiki.

Pehea e ʻike ʻia ai ka maʻi Cockayne?

Hoʻomaopopo ke kauka i kēia maʻi ma ka nānā ʻana i nā hiʻohiʻona lapaʻau o ke keiki a me nā hopena hoʻāʻo kikoʻī. ʻO nā hoʻāʻo nui i hana ʻia:

• Ka hoʻāʻo ʻana i ka hoʻoilina: Lawe ʻia kahi hāpana koko mai ke keiki a hoʻāʻo ʻia no nā mutations i loko o nā genes ERCC6 a i ʻole ERCC8.
• Biopsy ʻili: Lawe ʻia kahi ʻāpana liʻiliʻi o ka ʻiʻo ʻili a hoʻāʻo ʻia i loko o kahi keʻena hoʻokolohua e hoʻoholo ai i ka hiki o ke kino ke hoʻoponopono i ka DNA. ʻOi aku ka lohi o ka hoʻoponopono ʻana o ka DNA o ka poʻe me Cockayne Syndrome ma mua o ka maʻamau.

Aia kekahi mea nui ʻē aʻe i ka ʻike ʻana i kēia maʻi. ʻO ia hoʻi, he mea nui e ʻike i kahi kauka akamai i ʻike pono i kēia maʻi. No ka mea, aia kekahi mau maʻi ʻē aʻe me nā hōʻailona like (e.g. `Hutchinson-Gilford progeria syndrome`, `Laron syndrome`, `Seckel syndrome`). No laila, i mea e hana ai i kahi ʻike pololei, pono e hiki ke hoʻokaʻawale i kēia mai ia mau maʻi.

He aha nā lāʻau lapaʻau no ka Cockayne Syndrome?

ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau no ka Cockayne Syndrome. Eia naʻe, ʻaʻole ia he manaʻo ʻaʻohe mea hiki iā mākou ke hana. ʻO ka pahuhopu nui o ka mālama ʻana, ʻo ia ke pale a me ka mālama ʻana i nā pilikia i hoʻokumu ʻia e ka maʻi. Pono kēia i ke kākoʻo o kahi hui o nā kauka i haku ʻia me nā loea like ʻole.

E nānā kākou i kekahi mau koho lapaʻau:

Mālama niho:

• Pono nā nānā niho maʻamau e pale a mālama i ka pala niho.

Mālama maka:

• Pono paha ke ʻoki ʻana no ka cataracts.
• No nā maka i keʻa ʻia, hiki ke hoʻohana ʻia nā pale maka e hoʻoikaika i nā ʻiʻo maka nāwaliwali.
• Nā aniani no ka ʻike kokoke.
• Nā aniani maka e pale i kou mau maka mai ka mālamalama ʻālohilohi.

Kākoʻo no ka hāʻawi ʻana i ka meaʻai:

• Hiki i kekahi mau keiki ke paʻakikī i ka moni ʻana i ka meaʻai. I kēlā mau hihia, pono paha e hāʻawi ʻia ka hānai ʻana ma o kahi paipu i kau ʻia ma ka ihu i loko o ka ʻōpū (nasogastric tube) a i ʻole kahi paipu i kau pololei ʻia i loko o ka ʻōpū ma o ka ʻili (percutaneous endoscopic gastrostomy - PEG).

ʻŌlelo, hoʻōla kino, a me nā lāʻau lapaʻau hana:

• Nā mea hana e kōkua ai e mālama i ke kūlana kūlohelohe o ke kino (e.g., he corset).
• ʻO ka hoʻoikaika kino a me nā lāʻau lapaʻau hana e hoʻoponopono i nā pilikia e like me nā pilikia hele wāwae.
• Nā lāʻau lapaʻau ʻōlelo e hoʻonui ai i ka hiki ke ʻōlelo a me ke ale ʻana.

Nā lāʻau lapaʻau ʻē aʻe:

• Nā papahana hoʻonaʻauao kūikawā no nā lohi o ka ulu ʻana.
• Lāʻau lapaʻau a i ʻole kahi papaʻai kūikawā e kaohi ai i nā waihona momona i loko o ka puʻuwai.
• Nā mea kōkua lohe no nā pilikia o ka lohe.
• Nā lāʻau lapaʻau e kāohi ai i ka ʻoʻoleʻa o nā ʻiʻo (spasticity), nā haʻalulu, ke koko kiʻekiʻe, a me ka maʻi epilepsy.
• He mea nui loa ka pale ʻana i ka lā. ʻO ia hoʻi ka hoʻēmi ʻana i ka lā, ke komo ʻana i nā pāpale, a me ke komo ʻana i nā lole lima lōʻihi.

Hiki ke pale ʻia ka Cockayne Syndrome?

No ka mea, he maʻi hoʻoilina kēia, ʻaʻohe mea hiki iā kākou ke hana e pale aku ai. Inā hānau ʻia kahi keiki me kēia maʻi, e hoʻopilikia ia iā lākou no ke ola a pau.

Eia nō naʻe, inā ʻoe e hoʻolālā ana e hoʻomaka i kahi ʻohana a i ʻole e kali ana i kahi keiki ʻē aʻe, a ua loaʻa i kekahi o kou ʻohana ʻo Cockayne Syndrome, he mea nui loa ia e loaʻa i ke aʻoaʻo genetic a me ka hoʻāʻo genetic. Hiki i kēia mau hoʻāʻo ke haʻi iā ʻoe inā loaʻa iā ʻoe a me kāu hoa ka mutation gene ERCC6 a i ʻole ERCC8. Inā pēlā, hiki i kahi kākāʻōlelo genetic ke wehewehe iā ʻoe i ka hiki ke loaʻa kahi keiki me Cockayne Syndrome.

He aha ka wānana no nā keiki me ka Cockayne Syndrome?

ʻO ka Cockayne Syndrome kahi maʻi e hoʻopilikia ai i ka manaʻolana o ke ola. Aia ka wā e hiki mai ana o ke keiki i ke ʻano o ka maʻi.

• ʻAno 1: ʻO ke ola awelika ma waena o 10 a me 20 mau makahiki.
• ʻAno 2: ʻAʻole ola kēia mau keiki ma hope o ka wā kamaliʻi.
• ʻAno 3: Hiki i kēia mau keiki ke ola a hiki i ka wā makua waena.

He aha ke ʻano o ka noho ʻana me ka Cockayne Syndrome?

ʻO ke ola o kēlā me kēia lā o ke keiki e pili ana i ke ʻano o ka Cockayne Syndrome i loaʻa iā lākou. Hiki i nā lawelawe kākoʻo no nā keiki me nā kīnā noʻonoʻo a me ka ulu ʻana ke kōkua i ka maʻalahi o ko lākou ola. Loaʻa nā lawelawe ma ka home a me ke kaiāulu e kōkua i nā hana o kēlā me kēia lā. Hiki paha iā ʻoe ke loaʻa nā hana pilikanaka kūikawā.

Hele kekahi mau keiki i ke kula a hiki i ka emi ʻana o ko lākou hiki ke noʻonoʻo. Kōkua nā hoʻolālā hoʻonaʻauao pilikino (IEP) a me nā mea kōkua kumu iā lākou e aʻo pū me nā keiki ʻē aʻe. Eia nō naʻe, ʻaʻole paha e pōmaikaʻi nui nā keiki me nā ʻano maʻi koʻikoʻi mai ka hele ʻana i ke kula. Akā, hiki i kā lākou mau hana o kēlā me kēia lā ke kau ma luna o ka mālama lapaʻau a me nā therapies e kōkua iā lākou e noho ʻoluʻolu.

He mea nui loa: Hiki i ka poʻe me Cockayne Syndrome ke loaʻa nā hopena maʻamau ʻole i kekahi mau lāʻau lapaʻau.ʻO ka mea nui, pono e pale ʻia ka metronidazole, kahi lāʻau antibiotic i hoʻohana ʻia e mālama i nā maʻi. Hiki i kēia lāʻau lapaʻau ke hōʻeha i ka ate a me ka make ʻana i ka poʻe me Cockayne Syndrome. No laila, ma mua o ka hāʻawi ʻana i kekahi lāʻau lapaʻau, e hoʻomaopopo pono i ke kauka e pili ana i ke kūlana o ke keiki.

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

He maʻi laha ʻole ka Cockayne Syndrome, he maʻi hoʻoilina i hoʻokumu ʻia e nā mutations i loko o nā genes ERCC6 a i ʻole ERCC8. Hiki iā ia ke hoʻopilikia i nā maka o ke keiki, nā hiki ke noʻonoʻo, ka ʻili, a me ke ʻano. ʻOiai ʻoi aku ka pōkole o ke ola o kēia mau keiki ma mua o ka awelika, hiki i nā ʻano lapaʻau like ʻole a me nā lawelawe kākoʻo ke hoʻonui i ko lākou ʻoluʻolu a me ke ʻano o ke ola.

Inā kānalua ʻoe ua loaʻa i kāu keiki kēia mau hōʻailona, ​​ʻoi aku ka maikaʻi o ka hopohopo ʻole, akā e nīnau koke aku i ke kauka kūpono. Hiki i ka ʻike pololei a me ka mālama mua ʻana ke hāʻawi i ka nui o ka hōʻoluʻolu no kāu keiki. E hoʻomanaʻo, ʻaʻole ʻoe hoʻokahi, a aia nā kauka a me nā poʻe ʻē aʻe he nui e hiki ke kōkua iā ʻoe ma kēia huakaʻi.

ʻO ka maʻi cocaine, nā maʻi genetic, ka hoʻoponopono ʻana i ka DNA, ka ʻelemakule mua, ka lohi o ka ulu ʻana, ka photosensitivity, nā maʻi laha ʻole