Loaʻa i kāu keiki kēia mau hōʻailona? Pono anei mākou e makaʻala i ka Kearns-Sayre Syndrome?

Ke hōʻike nei kāu keiki i kekahi manawa i nā hōʻailona ʻē āu e hoʻomaopopo ʻole ai? Ua ʻike paha ʻoe i kahi mea e like me ka nalowale o ka ʻike, kahi loli iki i ka hele wāwae, a i ʻole ka manaʻo o ka nāwaliwali i kou kino? A laila he mea nui loa kēia iā ʻoe. I kekahi manawa hiki i kēia ke lilo i mau hōʻailona o kahi maʻi lapaʻau kakaʻikahi loa, akā pono e ʻike e pili ana. I kēia lā e kamaʻilio mākou e pili ana i kekahi o ia ʻano, i kapa ʻia ʻo Kearns-Sayre Syndrome.

He aha ka Kearns-Sayre Syndrome?

I ka ʻōlelo maʻalahi, ʻo Kearns-Sayre Syndrome kahi maʻi laha ʻole e hoʻopilikia ana i ka ʻōnaehana nerve a me nā ʻiʻo. Ua kapa ʻia hoʻi ʻo "KSS" no ka pōkole. Hoʻopilikia nui ia i nā maka. Hiki iā ia ke hoʻopilikia i ka puʻuwai, nā ʻiʻo, a me nā hana o ka lolo e like me ka noʻonoʻo a me ka hoʻomanaʻo. ʻO ka hapa nui o ka manawa, hoʻomaka kēia mau hōʻailona e ʻike ʻia ma mua o ka piha ʻana o 20 mau makahiki .

He `(mitochondrial disorder)` kēia, ʻo ia hoʻi, ua hoʻokumu ʻia kēia maʻi e kahi pilikia me nā ʻāpana liʻiliʻi i kapa ʻia ʻo mitochondria i loko o kā mākou mau cell. ʻO ka mea kaumaha, ʻaʻohe lāʻau lapaʻau piha no kēia. Eia nō naʻe, hiki i ka ʻike mua ʻana a me ka mālama pono ʻana ke kōkua i ka hoʻomalu ʻana i nā hōʻailona a mālama i kahi ola maikaʻi. Ua ʻike mua ʻia kēia maʻi i ka makahiki 1958 e nā kauka ʻelua i kapa ʻia ʻo Thomas P. Kearns lāua ʻo George Pomeroy Sayer. ʻO ia ke kumu i loaʻa ai kēia inoa. He maʻi holomua ia e ʻoi aʻe ka ʻino i ka hala ʻana o ka manawa.

E aʻo iki kākou e pili ana i ka mitochondria, ka mea e hāʻawi i ka ikehu i ko kākou kino.

I kēia manawa, ke noʻonoʻo nei paha ʻoe i ke ʻano o kēia mau mitochondria a no ke aha lākou i koʻikoʻi ai. E noʻonoʻo e pili ana, ua like nā mitochondria me nā hale hana ikehu liʻiliʻi i loko o kēlā me kēia cell i loko o ko mākou kino (koe wale nō nā cell koko ʻulaʻula). E like me ka ʻaila i loko o ke kaʻa, 90% o ka ikehu e pono ai ko mākou kino e hana ai ua hana ʻia i loko o kēia mau mitochondria. Lawe kēia mau hale hana liʻiliʻi i nā meaola mai ka meaʻai a mākou e ʻai ai, hoʻohana i ka oxygen, a hoʻololi iā lākou i ikehu e hiki ai i kā mākou mau cell ke hoʻohana.

No laila, e noʻonoʻo i ka mea e hana ʻia inā ʻaʻole hana pono kēia mau mitochondria, a inā ua hōʻino ʻia? A laila ʻaʻole loaʻa i ko mākou kino ka ikehu e pono ai. ʻO kēia ke kumu o ka hana ʻana o nā ʻōnaehana like ʻole i loko o ke kino, ʻo ia hoʻi, nā cell, nā ʻiʻo, a me nā ʻōpū, e hōʻino ʻia. He mea paʻakikī iki ka ʻike a me ka mālama ʻana i nā maʻi mitochondrial, no ka mea, hoʻopilikia lākou i nā ʻāpana he nui o ke kino, ʻaʻole hoʻokahi wale nō. ʻOiai hiki ke ʻokoʻa nā hōʻailona o kēia mau maʻi mai kēlā kanaka a kēia kanaka, e ʻoi aku ka ʻino o ka hala ʻana o ka manawa. ʻO ka mea nui, ʻo nā ʻiʻo a me nā cell nerve, e pono ai ka nui o ka ikehu, ʻo ia ka mea i hōʻino nui ʻia.

He aha nā hōʻailona o kēia maʻi?

Hoʻomaka pinepine nā hōʻailona o ka maʻi Kearns-Sayer (KSS) ma mua o 20 mau makahiki , e hoʻopilikia mua i nā maka ʻelua. I ka hala ʻana o ka manawa, hiki i kēia ke alakaʻi i ka makapō.

Nā hōʻailona mua e pili ana i nā maka:

• Ka nalowale ʻana o ka ʻike: Ua emi ka ʻike, ʻoiai ma nā wahi pouli, e like me ka pō. Ma muli kēia o ka hōʻino ʻia ʻana o ka retina o ka maka. Ma ke ʻano lapaʻau, ua kapa ʻia kēia he `(pigmentary retinopathy)`.
• Nā lihilihi maka e kulou ana: Kūlou nā lihilihi maka o luna o kekahi a i ʻole nā ​​maka ʻelua me ke kāohi ʻole. Ua kapa ʻia kēia he `(ptosis)`.
• Ka nāwaliwali a i ʻole ka hana pono ʻole o nā ʻiʻo maka: ʻO nā ʻiʻo i hoʻohana ʻia e hoʻoneʻe i nā maka e nāwaliwali mālie. Ua kapa ʻia kēia ʻo "chronic progressive external ophthalmoplegia (CPEO)". I kekahi manawa hiki i kēia ke hana i ka hiki ʻole ke hoʻohuli i nā maka ʻelua i ka ʻaoʻao like.

Nā hōʻailona ʻē aʻe ma waho aʻe o nā maka:

ʻAʻole i kaupalena ʻia kēia maʻi i nā maka wale nō. Hiki iā ia ke hoʻopilikia i nā ʻāpana ʻē aʻe he nui o ke kino.

• Poho lohe (Kuli): E emi mālie ana ka pohō lohe, a hiki paha iā ʻoe ke lilo i kuli loa.
• Ka ʻike ʻike ʻole a i ʻole ka nalowale o ka hoʻomanaʻo (dementia): Lilo ia i mea paʻakikī ke noʻonoʻo, hoʻomaopopo, a aʻo. I kekahi manawa, hiki ke hana mālie ʻia ka nalowale o ka hoʻomanaʻo.
• Maʻi puʻuwai: Hiki ke loaʻa nā hemahema o ke alakaʻi ʻana o ka puʻuwai ma muli o ke ālai ʻia ʻana o nā hōʻailona uila o ka puʻuwai. Hiki ke lilo i mea weliweli loa kēia.
• Nā hemahema hormonal (nā ʻano endocrine): No ka laʻana, hiki ke loaʻa ka maʻi diabetes mellitus. Hiki ke kū mai nā pilikia ʻē aʻe e pili ana i ka hormone.
• Hoʻonui ʻia ka protein i loko o ka wai cerebrospinal (CSF): ʻIke ʻia kēia ma ka hana ʻana i kahi kī spinal.
• Nā pilikia puʻupaʻa.
• Nā pilikia me ka hele wāwae a me ke kaulike (ataxia): Ka nalowale o ke kaulike, ka hina ʻana i ka wā e hele ana, a me ka nalowale o ka hoʻonohonoho ʻana.
• Nā hopu ʻana: He mea kākaʻikahi loa kēia.
• Kino pōkole: ʻAʻole e ulu ana ke kiʻekiʻe ma mua o ka maʻamau.
• Ka nāwaliwali o nā lima a me nā wāwae: Manaʻo nā lālā ua make, a nāwaliwali nā ʻiʻo.

E noʻonoʻo ʻoe ua pāʻani nui kāu keiki ma mua, e holo ana a puni a e pāʻani ana. Akā i kēia mau lā aku nei, ua ʻōlelo ʻo ia ʻaʻole hiki iā ia ke ʻike maikaʻi i ka pō, ua pilikia ʻo ia i ka noʻonoʻo ʻana i ka hana kula, a ʻaʻole ʻo ia i ikaika e like me ka wā ma mua i kona hele ʻana. Inā hana ʻia kēia, ʻo ka mea nui loa, ʻo ia ke ʻimi i ka ʻōlelo aʻo lapaʻau me ka nānā ʻole ʻana iā ia.

No ke aha e kū mai ai kēlā ʻano maʻi laha ʻole?

Hoʻokumu ʻia ka maʻi Kearns-Sayer (KSS) e kahi hoʻololi genetic i loko o ka DNA i loko o mitochondria, a i ʻole mitochondrial DNA (mtDNA) . ʻO kēia mtDNA ka ʻāpana o ke kelepona e lawe ana i nā genes e pono ai no ka hana olakino o mitochondria. Eia nō naʻe, ʻaʻole maopopo i nā mea noiʻi ke kumu o kēia hoʻololi genetic.

ʻO ka mea nui loa, ʻaʻole kēia ka hewa o mama a me papa.ʻO ka hapa nui o ka manawa, hana ʻia kēia mau loli genetic i ka wā e ulu ana ke pēpē i loko o ka ʻōpū. I kekahi manawa, hoʻoili ʻia lākou mai ka makuahine a i ke keiki (hoʻoilina makuahine), akā hiki nō hoʻi ke hana ʻia ke ʻano me ka ʻole o ka mōʻaukala ʻohana. Hiki i ka hoʻāʻo genetic ke kōkua i ka hoʻoholo ʻana inā he hoʻoilina ka hoʻololi genetic a i ʻole he hanana ulia pōpilikia.

Pehea ʻoe e ʻike pono ai i kēia?

ʻOiaʻiʻo, hiki i ka Kearns-Sayer Syndrome (KSS) ke paʻakikī iki ke ʻike ʻia no ka mea e pili ana ia i nā ʻōnaehana kino he nui. Hiki iā ʻoe ke ʻike i nā hōʻailona ʻē iā ʻoe iho a i ʻole kāu keiki. A i ʻole e ʻike paha ke kauka i kēia mau hōʻailona i ka wā o ka nānā ʻana i ke kauka maʻamau. Eia nō naʻe, inā ʻike ʻoe i kekahi o kēia mau hōʻailona, ​​​​ʻoi aku ka maikaʻi o ka ʻike koke ʻana i ke kauka.

Hana nā kauka i kēia mau mea e ʻike ai i kēia kūlana "(KSS)":

• E hoʻolohe pono mākou i kou mōʻaukala olakino a me nā hōʻailona.
• Hana ʻia kahi hoʻokolokolo kino piha.
• Nā hoʻokolohua ʻē aʻe: Hiki ke hana ʻia nā hoʻokolohua mimi, nā hoʻokolohua maka, nā hoʻokolohua lohe, nā hoʻokolohua koko, a me ka hana ʻana paha i ka spinal tap/lumbar puncture.
• ʻO ke aʻoaʻo ʻana i ka genetic a me ka hoʻāʻo ʻana i ka genetic: Hana pinepine ʻia kēia me kahi hāpana koko.

Eia kekahi, e lawe paha kāu kauka i kahi ʻāpana liʻiliʻi o kou ʻiʻo mākala a nānā iā ia (he biopsy mākala) . E nānā kēia i kahi mea i kapa ʻia ʻo "ragged-red fibers." Inā loaʻa kēia mau mea, ʻo ia hoʻi he ʻano ʻē nā ʻiʻo mākala ma muli o ka maʻi mitochondrial.

Hiki ke hana ʻia nā hoʻokolohua kiʻi e like me kēia e kāpae i nā kūlana ʻē aʻe:

• ʻO ke kiʻi CT
• ʻO ka Electroencephalogram (EEG) (kahi hoʻāʻo e ana i ka hana uila o ka lolo)
• ʻO ka Electroretinogram (ERG) (kahi hoʻāʻo e ana i ka hana o ka retina)
• ʻO ka MRI a i ʻole ka spectroscopy (MRS)

He mea nui ka ʻike mua ʻana i kēia maʻi no ka mālama pono ʻana. Me ka ʻike pololei wale nō hiki iā ʻoe a me kāu keiki ke loaʻa i ka lāʻau kūpono.

Aia kekahi lāʻau lapaʻau no kēia? Pehea e mālama ʻia ai?

ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau no Kearns-Sayer Syndrome (KSS). Akā, mai hopohopo. Hiki i ka ʻike mua ʻana a me ka mālama kākoʻo ke kōkua i ka hōʻemi ʻana i ka pilikia o nā pilikia. Hiki i kāu kauka ke kuhikuhi i nā lāʻau lapaʻau e hiki ke kōkua iā ʻoe a me kāu keiki e hoʻokele i kā lākou mau hōʻailona a hoʻomaikaʻi i ko lākou ola.

Kōkua mai kahi hui o nā kauka loea

Ma muli o ka hoʻopilikia ʻana o kēia maʻi i nā ʻāpana he nui o ke kino, pono ia i ke kākoʻo o kahi hui o nā kauka me ka ʻike loea i nā ʻano like ʻole. Hiki i kāu hui lapaʻau ke komo pū me:

• Kauka maka
• Loea hoʻolohe `(audiologist)`
• Kauka Puʻuwai
• Kauka lapaʻau endocrine
• He kanaka loea i ka hoʻoilina
• Kauka lapaʻau noʻonoʻo
• Luna hoʻoponopono hana a mea hoʻoponopono kino paha
• loea olakino noʻonoʻo (e.g. 'neuropsychiatrist')

He aha nā lāʻau lapaʻau?

ʻO ka pahuhopu nui o ka mālama ʻana, ʻo ia ke kaohi ʻana i nā hōʻailona a hōʻemi i nā pilikia e hiki mai ana i ka wā e ʻino mālie ai ke kūlana.

• Hoʻōla kino a me ka hoʻōla hana: Kōkua kēia i ka mālama ʻana i ka hoʻonohonoho ʻana, ka ikaika, a me ke kaulike. Kōkua pū lākou iā ʻoe e hana i nā hana o kēlā me kēia lā me ke kūʻokoʻa.
• Lāʻau lapaʻau: Hiki i kāu kauka ke kuhikuhi i nā lāʻau lapaʻau no ka maʻi puʻuwai, nā pilikia hormonal, a i ʻole nā ​​​​hōʻailona noʻonoʻo (e laʻa, ke kaumaha).

Eia kekahi, hiki i ke kauka ke ʻōlelo i nā mea e like me:

• Nā mea kōkua hoʻolohe a i ʻole nā ​​​​​​mea hoʻokomo cochlear (inā pono kekahi poʻe)
• Hiki i ke kaula ʻili maka a i ʻole ke ʻoki ʻili maka (blepharoplasty) ke kōkua i ka wehe ʻana i nā maka i ka wā e kulou ai nā lihilihi maka.
• ʻO kahi pākuʻi waikawa folic inā haʻahaʻa ka pae folate i loko o ka wai cerebrospinal (CSF).
• ʻO ka lāʻau lapaʻau hoʻololi hormone no nā hemahema hormonal.
• ʻO ka insulin a i ʻole nā ​​​​lāʻau lapaʻau ʻē aʻe no ka maʻi diabetes.
• Ke hoʻokomo ʻana i kahi pacemaker inā he mau ʻano ʻē e hoʻoweliweli ana i ke ola i nā hōʻailona uila o ka puʻuwai.

He mea nui ka nānā mau ʻana i ke kauka no kekahi me (KSS) no ka mea, i ka hala ʻana o ka manawa, i ka nalowale ʻana o ka hana o nā ʻōnaehana kino like ʻole o ke kino, hiki ke ulu mai nā hōʻailona hou. E kamaʻilio pinepine me kāu kauka e pili ana i nā koho e hiki ke kōkua iā ʻoe e noho olakino e like me ka hiki, no ka lōʻihi e like me ka hiki.

Pehea ke ola me kēia kūlana? He aha ka mea e hiki mai ana?

ʻO ke kūlana no kekahi me Kearns-Sayer syndrome (KSS) e pili ana i ke koʻikoʻi o kā lākou mau hōʻailona. Eia nō naʻe, nui ka poʻe e noho me ke ʻano no nā makahiki he ʻumi. Hiki i nā lāʻau lapaʻau kākoʻo ke kōkua iā ʻoe a me kāu keiki e ola i kahi ola lōʻihi a olakino. Mai hoʻokuʻu i ka manaʻolana.

ʻO ka mea hope loa, nā mea nui e hoʻomanaʻo

ʻAe, mai nā mea a mākou i kamaʻilio ai, ke lana nei koʻu manaʻo ua loaʻa iā ʻoe kekahi ʻike e pili ana i ka Kearns-Sayre Syndrome. He ʻano paʻakikī a kakaʻikahi hoʻi ia. Akā e hoʻomanaʻo:

• He mea nui loa ka ʻike mua ʻana. Inā loaʻa iā ʻoe nā hōʻailona ʻē, ʻoiai inā hoʻomaka lākou i ka wā ʻōpiopio, e like me ka maka, ka puʻuwai, a i ʻole ka nāwaliwali o nā ʻiʻo, mai hoʻokaʻulua i ka ʻimi ʻana i ke aʻo lapaʻau.
• He maʻi hoʻoilina kēia, ʻaʻole hewa kekahi. No laila, mai hoʻāhewa iā ʻoe iho.
• ʻOiai ʻaʻohe lāʻau lapaʻau piha no kēia, nui nā lāʻau lapaʻau e hiki ke hoʻokele i nā hōʻailona a hoʻomaikaʻi i ka maikaʻi o ke ola .
• E hana pū me kahi hui o nā kauka loea e hoʻomohala i kahi hoʻolālā lapaʻau kikoʻī. E hahai mau i nā ʻōlelo a kāu kauka.
• ʻOiai he kūlana paʻakikī kēia, ʻaʻole ʻoe hoʻokahi. Me ke kākoʻo a me ka ʻike kūpono, hiki iā ʻoe ke lanakila ma luna o kēia.

Inā ʻoe a i ʻole kekahi āu i ʻike ai e loaʻa ana i kēia pilikia, ke lana nei koʻu manaʻo e kōkua kēia ʻike iā lākou pū kekahi. E noho mākaukau, e noho olakino!

ʻO Kearns-Sayre Syndrome, mitochondria, nā hoʻololi genetic, nā maʻi maka, nā maʻi puʻuwai, nāwaliwali o nā ʻiʻo, nā maʻi neurological