Ke pilikia nei kāu keiki me ko lākou mau maka, pepeiao, a me nā hono i ka manawa like? He Stickler Syndrome paha kēia!

I kekahi manawa, maʻi kā mākou poʻe liʻiliʻi kekahi ma hope o kekahi, ʻeā? Akā, hiki i kekahi mau keiki ke loaʻa koke i kekahi mau pilikia pili ʻole, e like me nā pilikia ʻike, nā pilikia lohe, a me ka ʻeha o nā hono. Ua loaʻa anei iā ʻoe kahi ʻike like? A laila e pili ana kēia i kahi maʻi genetic i kapa ʻia ʻo Stickler Syndrome, hiki ke hana i ia ʻano. ʻOiai he mea paʻakikī iki kēia, e kamaʻilio maʻalahi kākou e pili ana.

He aha ka Stickler Syndrome? I mea e pololei ai...

I ka ʻōlelo maʻalahi, ʻo ka Stickler syndrome kahi maʻi genetic . Hoʻokumu ʻia ia e kahi loli i loko o kā mākou mau genes. Hoʻopilikia nui ia i nā ʻiʻo pili i loko o ko mākou kino. ʻO kēia ʻiʻo pili kahi ʻano ʻiʻo kūikawā e hoʻopili, kākoʻo, a hāʻawi i ke ʻano i nā ʻāpana ʻē aʻe o ko mākou kino, e like me nā ʻōpū a me nā ʻiʻo. E noʻonoʻo e like me ka hoʻohana ʻana i ka sima a me ka uea e hoʻopaʻa i nā paia a me ka hale o ko mākou hale. He mea nui hoʻi kēia ʻiʻo pili i ko mākou kino.

No laila, ma kēia hihia o ka Stickler syndrome, ʻo nā ʻiʻo pili ma nā wahi e like me ka maka, nā pepeiao, nā maka, a me nā hono ka mea i hoʻopilikia nui ʻia. Ma muli o kēia, loaʻa paha i kekahi mau keiki kekahi mau loli o ka helehelena, e like me ka palate māwae. Aia paha he mau pilikia me ka ʻike , ka lohe, a me ka neʻe ʻana. I kekahi manawa ua kapa ʻia kēia ʻo Stickler dysplasia.

Pehea ka maʻamau o kēia maʻi? ʻO wai ka mea e loaʻa pinepine ai?

Ua manaʻo ʻia ka maʻi Stickler e hoʻopilikia i hoʻokahi a ʻekolu paha o kēlā me kēia 7,500 a 10,000 mau pēpē hānau hou. Eia nō naʻe, no ka mea, ʻaʻole i ʻike pinepine ʻia ke ʻano, he paʻakikī ke ʻōlelo pololei i ka nui o ka poʻe e ʻeha nei i ke ʻano.

No ka mea e loaʻa ana, hiki i kekahi ke loaʻa i ka Stickler syndrome. Eia nō naʻe, inā loaʻa i kekahi o ka ʻohana, ʻo ia hoʻi, he makuahine, he makuakāne, a he kaikaina paha, ke ʻano o kēia maʻi, ʻoi aku ka nui o ka pilikia o ka loaʻa ʻana o kekahi poʻe. Eia nō naʻe, i kekahi manawa, me ka ʻole o ka mōʻaukala ʻohana, hiki ke loaʻa kēia maʻi ma muli o kahi loli maʻamau i nā genes (' genetic mutation`) . ʻO ia hoʻi, ʻaʻole pono ia he mea i hoʻoilina ʻia.

Pehea ka hopena o ka Stickler Syndrome i ke kino?

E like me kā mākou i kamaʻilio ai ma mua, hoʻopilikia kēia ʻano i nā ʻiʻo pili. ʻO kekahi o nā hana nui o nā ʻiʻo pili i loko o ko mākou kino, ʻo ia ke pale a kākoʻo i nā ʻiʻo a me nā ʻōpū ʻē aʻe. No laila, i ka wā e loaʻa ai kahi mutation, a i ʻole kīnā, i loko o kahi gene e hana ana i kēia ʻiʻo pili, ʻaʻole loaʻa i kēlā gene nā kuhikuhi kūpono no ka hana ʻana i kēia ʻiʻo pili a pehea e hana ai.

ʻO kēia ke kumu, no kekahi me ka Stickler syndrome,Hoʻopilikia ʻia ka ʻike, ka lohe, a me ka neʻe ʻana o nā hono. Hoʻopilikia nui ʻia nā maka, nā pepeiao, a me nā hono. Hoʻomohala pinepine ka poʻe me ka Stickler syndrome i ka maʻi ʻāʻī i ka wā kamaliʻi . Eia nō naʻe, me ka mālama pono ʻana, hiki ke kaohi ʻia nā hōʻailona a hiki i ka poʻe me kēia maʻi ke ola maʻamau a hana .

He aha nā hōʻailona o kēia? Pehea e ʻike ai?

Hiki ke ʻokoʻa nā hōʻailona o ka maʻi Stickler mai kēlā kanaka a kēia kanaka . ʻAʻole e loaʻa i nā kānaka a pau nā hōʻailona a pau. ʻO ia ke kumu e kūikawā ai. No ka laʻana, hiki i kekahi keiki ke loaʻa nā pilikia maka hou aʻe, aʻo kekahi e loaʻa paha ka ʻeha o nā hono.

Aia kekahi mau ʻano nui o nā hōʻailona e ʻike ʻia:

Nā pilikia o ka iwi a me nā hono:

• I ka wā mua , hiki i nā hono ke palupalu loa , akā i ka hala ʻana o ka manawa e hoʻomaka paha lākou e lilo i ʻoʻoleʻa .
• Hiki ke kūlou ʻia ke kuamoʻo, a i ʻole scoliosis .
• Hiki ke ulu ka rumatika i ka wā ʻōpiopio. E noʻonoʻo inā ala aʻe kahi keiki, ʻaʻole i piha i nā makahiki he ʻumi, i ke kakahiaka a hoʻopiʻi i ka ʻeha ma ko lākou mau hono, pono ʻoe e hopohopo.

Nā pilikia e pili ana i ka lohe a me ka pepeiao:

• Hiki ke loli ka lohe ma nā ʻano like ʻole. Hiki i kekahi poʻe ke ʻike wale i kahi loli iki o ka lohe, a ʻo kekahi poʻe e ʻike paha i ka kuli piha.

Nā pilikia o ka maka:

• ʻO ka ʻike maka kokoke loa (a i ʻole myopia) ʻo ia hoʻi, ʻo nā mea kokoke wale nō ke ʻike maopopo ʻia, ʻoiai nā mea mamao ua poholo.
• Ka retina i hemo. Hiki ke hana koke ʻia kēia a pono e mālama koke ʻia.
• Nā maʻi cataract .
• Hoʻonui ʻia ke kaomi i loko o ka maka, i kapa ʻia ʻo glaucoma.

Nā hiʻohiʻona kūikawā i ʻike ʻia ma ka maka:

I ka manawa pinepine, hiki ke hoʻopilikia ʻia ke ʻano o ka maka o nā keiki me kēia maʻi i ko lākou ulu ʻana.

• Lepe māwae : ʻO ia hoʻi, aia kahi hakahaka ma ke kaupaku o ka waha.
• ʻO ka ʻāwae lalo liʻiliʻi a hoʻokahe ʻia (`micrognathia`) : I kekahi manawa ua kapa ʻia kēia ʻo ka `Pierre Robin sequence`. Hiki i kēia ke kumu i ka pilikia o kekahi mau keiki i ka hanu ʻana a me ke ale ʻana.
• Lilo ka maka i pālahalaha a liʻiliʻi ka ihu.

Nā hōʻailona ʻē aʻe:

Ma waho aʻe o kēia, hiki ke ʻike ʻia nā hōʻailona ʻē aʻe:

• Ka paʻakikī o ka hanu ʻana (ʻoi aku hoʻi i nā keiki me ka micrognathia).
• Nā pilikia hānai i nā pēpē hānau hou.
• Nā pilikia aʻo ma muli o nā hemahema o ka ʻike a me ka lohe.

He mea nui: ʻAʻole e loaʻa i nā kānaka a pau kēia mau hōʻailona a pau. Mai hopohopo inā loaʻa i kāu keiki kekahi a ʻelua paha o kēia mau hōʻailona, ​​akā inā ʻike ʻoe i kekahi o lākou i hui pū ʻia, ʻoi aku ka maikaʻi o ka ʻimi ʻana i ke kōkua lapaʻau.

Aia kekahi mau ʻano like ʻole o ka Stickler Syndrome?

ʻAe, ʻeono mau ʻano nui o ka maʻi Stickler i ʻike ʻia. ʻOkoʻa ke koʻikoʻi a me ke ʻano o nā hōʻailona ma muli o ke ʻano.

• ʻAno I: ʻO kēia ke ʻano maʻamau . ʻO ka nalowale iki o ka lohe a me ka ʻike kokoke ʻana nā hōʻailona nui.
• ʻAno II: ʻOi aku ka pilikia o kēia e ka nalowale o ka lohe a me ka ʻike kokoke.
• ʻAno III: ʻO ka nalowale o ka lohe a me nā pilikia hono nā hōʻailona nui. ʻAʻohe pinepine nā hōʻailona ʻike .
• ʻAno IV, V, a me VI: He mea kākaʻikahi loa kēia mau ʻano. Hiki iā lākou ke loaʻa nā pilikia ʻike a me ka lohe koʻikoʻi. Hiki iā lākou ke loaʻa nā hōʻailona paʻakikī, e like me nā wēlau i hoʻonui ʻia o nā iwi lōʻihi (spondyloepiphyseal dysplasia) a me ka arthritis.

Hoʻoholo nā kauka i ke ʻano o ke kanaka ma muli o nā hōʻailona a me nā hoʻokolohua.

He aha ke kumu o kēia? He aha ka mana hoʻoilina?

ʻO ke kumu nui o ka maʻi Stickler he hoʻololi ʻana o ka ʻano hoʻoilina . Hiki ke hana kēia hoʻololi ʻana i kekahi o nā ʻano ʻeono e kuhikuhi ana i ko mākou kino e hana i kahi protein kūikawā i kapa ʻia ʻo collagen . ʻO Collagen ka mea nui e hāʻawi i ko mākou mau ʻiʻo pili i ko lākou palupalu a me ka ikaika. E noʻonoʻo iā ia e like me ke kaula laholio, ka mea e hāʻawi iā lākou i ka palupalu a me ka ikaika.

No laila, i ka wā e loaʻa ai kahi kīnā i loko o kēia mau genes, ʻaʻole i hana pono ʻia ka protein collagen. Hoʻopilikia nui kēia i ka collagen e hana ana i ko mākou cartilage a me ka mea like me ka jelly i loko o ko mākou mau maka. Ma waena o kēia mau genes, ʻo nā genes e like me `(COL2A1)`, `(COL11A1)`, `(COL11A2)` nā mea nui.

Inā loaʻa i kekahi keiki kekahi o kēia mau genes mutated, hiki iā lākou ke hōʻike i nā hōʻailona o ka maʻi Stickler.

Pehea i hoʻoilina ʻia ai kēia mau genes?

ʻElua ala nui e hoʻoilina ʻia ai kēia:

• ʻAno autosomal dominant:ʻO kēia ke ʻano maʻamau (ʻoi aku hoʻi nā ʻano I, II, a me III). ʻO ka mea e hana ʻia ma ʻaneʻi, ʻoiai inā loaʻa i kekahi makua ka hoʻololi ʻana o ka gene, aia he 50% ka manawa e hoʻoilina ai ke keiki.
• Autosomal recessive: He mea kākaʻikahi iki kēia (hiki ke ʻike ʻia ma nā ʻano IV, V, a me VI). Maanei, pono nā mākua ʻelua he mau mea lawe maʻi olakino . ʻO ia hoʻi, ʻaʻohe o lākou mau hōʻailona, ​​akā he gene mutated ko lākou. Inā pēlā, aia he 25% ka manawa e hoʻoilina ai ke keiki i ke kūlana.

I kekahi manawa, hiki ke hana wale ʻia kahi hoʻololi genetic hou ('de novo mutation`) , me ka ʻole o ka mōʻaukala ʻohana. He paʻakikī ke wānana mua i kēia mau mea.

Pehea e ʻike ai nā kauka i kēia?

Hahai kekahi kauka i kekahi mau ʻanuʻu e hōʻoia i ka maʻi Stickler.

• He moʻolelo lapaʻau ʻohana kikoʻī a me ka hoʻokolokolo kino: ʻO ka mea mua, e nīnau ʻia ʻoe a me kāu keiki e pili ana i kāu mau hōʻailona a inā paha i loaʻa i kekahi o kou ʻohana nā kūlana like. A laila, e nānā ʻia kāu keiki e ʻike inā he mau hiʻohiʻona kūikawā ma ka maka, nā pepeiao, nā maka, a me nā hono.
• Nā hoʻokolohua ʻike a me ka lohe: Hana ʻia kēia mau hoʻokolohua e nā kauka loea e loiloi i ka pae o ka ʻike a me ka lohe.
• Nā hoʻokolohua kiʻi: I kekahi manawa, hiki ke hana ʻia nā hoʻokolohua e like me nā X-ray e nānā i nā mea ʻino i nā iwi a me nā hono.
• Hoʻāʻo ʻana i ka hoʻoilina: ʻO kēia ka hoʻāʻo nui e kōkua ai i ka hana ʻana i kahi hōʻailona paʻa. Lawe ʻia kahi hāpana koko a i ʻole kahi hāpana ʻiʻo a hoʻāʻo ʻia no nā hoʻololi hoʻoilina e hoʻoulu ai i ka maʻi Stickler.

Hiki ke ʻike ʻia kēia ma mua o ka hānau ʻana o ke keiki?

ʻAe, i kekahi manawa hiki i ka hoʻāʻo ʻana i ka genetic prenatal ke ʻike i nā ʻano ʻē aʻe a i ʻole nā ​​​​​​mutation i loko o nā genes o kahi pēpē. Eia nō naʻe, hana pinepine ʻia kahi hōʻoia paʻa ma hope o ka hānau ʻana o ka pēpē, ma hope o ka hoʻokolokolo kino piha a me nā hoʻokolohua ʻē aʻe e pono ai e hōʻoia i nā hōʻailona.

He aha nā lāʻau lapaʻau no ka Stickler Syndrome?

He pilikia kēia i loaʻa i nā poʻe he nui. ʻAʻohe lāʻau lapaʻau no ka Stickler syndrome i kēia manawa. Akā, mai hopohopo. Nui nā lāʻau lapaʻau kūpono e kāohi i nā hōʻailona a hōʻemi i ko lākou hopena . ʻO ka ʻike mua a me ka mālama ʻana nā mea nui loa . ʻOi loa i nā hihia o kahi retina hemo a i ʻole nā ​​​​pilikia hui, hiki i ka mālama mua ke pale i ka pōʻino nui.

ʻOkoʻa nā ʻano lapaʻau ma muli o nā hōʻailona. Eia kekahi o nā lāʻau lapaʻau nui:

• Hoʻomaikaʻi i ka ʻike makaKe hāʻawi nei i nā maka aniani a i ʻole nā ​​​​aniani hoʻopili.
• Ke hoʻolako nei i nā mea kōkua hoʻolohe e hoʻomaikaʻi i ka lohe.
• Ke hāʻawi ʻana i ka lāʻau lapaʻau e hōʻemi i ka ʻeha o nā hono.
• Inā he kekee a hewa paha ke ʻano o nā niho, hiki ke hana ʻia ka lāʻau orthodontic e hoʻoponopono iā lākou.
• ʻO ka hoʻoikaika kino ( e like me nā hoʻomaʻamaʻa kūikawā) e hoʻoikaika i nā hono a hoʻomaikaʻi i ka neʻe ʻana.
• ʻO ke ʻoki kino:
• Hoʻopili hou ʻana o kahi retina i hoʻokaʻawale ʻia (ʻoki hoʻopili hou ʻana o ka retina).
• Hoʻoponopono ʻana i ka palale māwae.
• Inā paʻakikī ka hanu ʻana, hiki ke kau ʻia kahi ʻōmole liʻiliʻi ma ka ʻāʻī e maʻalahi ai ka hanu ʻana (hiki paha i kahi tracheostomy).
• E hoʻoponopono a pani paha i nā hono i hōʻino ʻia.

Ma o kēia lāʻau lapaʻau, loaʻa i nā keiki a me nā mākua me ka maʻi Stickler ke kōkua nui i ke alakaʻi ʻana i nā ola maʻamau, piha, a hana .

Hiki ke pale ʻia kēia kūlana?

He maʻi hoʻoilina ka Stickler syndrome, no laila ʻaʻole hiki ke pale ʻia . Eia nō naʻe, inā loaʻa i kekahi o kou ʻohana ke ʻano a ke hoʻolālā nei ʻoe e loaʻa kahi keiki, hiki i ke aʻo ʻana i ka genetic a me ka hoʻāʻo ʻana i ka genetic ke kōkua iā ʻoe e hoʻomaopopo i ka pilikia o kāu keiki e hoʻoilina i ke ʻano.

He aha kāu e manaʻo ai i kou wā e noho ai me ka Stickler Syndrome?

ʻOiai ʻaʻohe lāʻau lapaʻau no kēia maʻi, ʻaʻole ia e hoʻopilikia i ka lōʻihi o ke ola o ke kanaka . ʻO ia hoʻi, ola ka poʻe me kēia maʻi i kahi ola maʻamau e like me nā mea ʻē aʻe. Me ka nānā mau ʻana i ke kauka, ka mālama pono ʻana, a me ke kākoʻo, nui ka poʻe e ola nei i nā ola hana a piha.

ʻO ka mea nui loa, ʻo ia ka ʻike ʻana i ka maʻi i ka wā kamaliʻi a i ʻole ka wā kamaliʻi . A laila, hiki ke mālama koke ʻia nā hōʻailona a hiki ke pale ʻia nā pilikia e kū mai ana i ka wā e hiki mai ana.

I kekahi manawa hiki ke hoʻi hou mai nā hōʻailona ma hope o ka mālama ʻia ʻana. Eia kekahi laʻana, inā paha e hana ʻia ʻoe i ke ʻoki ʻana e wehe i kahi retina i hemo, hiki ke hoʻi hou mai ke ʻano. No laila, he mea nui loa ka hele ʻana i nā nānā lapaʻau maʻamau a me ka makaʻala i kāu mau hōʻailona .

Aia kekahi hopena i nā hana o kēlā me kēia lā?

ʻOkoʻa kēia mai kēlā kanaka a kēia kanaka, ma muli o ke ʻano o nā hōʻailona. ʻAʻole paha i loaʻa i kekahi poʻe ka hopena nui, aʻo kekahi poʻe e pono e noho me kekahi mau palena. Ma ke ʻano kūikawā, ʻōlelo aʻo nā kauka e pale i nā haʻuki pili , e like me ka rugby a me ka pôpeku, no ka mea, ʻoi aku ka nui o ka pilikia o ka retinal detachment i ia mau haʻuki.

Āhea ʻoe e ʻike ai i ke kauka?

Inā loaʻa iā ʻoe a i kāu keiki paha nā hōʻailona āu e manaʻo ai e pili ana i ka maʻi Stickler a ke hoʻopilikia nei i kāu mau hana o kēlā me kēia lā a hiki i kahi hiki ʻole iā ʻoe ke hana, e ʻike pono i ke kauka.

• Inā loaʻa iā ʻoe ka ʻeha nui o nā hono .
• Inā loli koke kou ʻike (no ka laʻana, ka ʻike maka pōwehiwehi, ka ʻike ʻana i nā kukui e ʻālohilohi ana i mua o kou mau maka, ka ʻike ʻana i nā kiko ʻeleʻele a i ʻole nā ​​ʻupena e lana ana i mua o kou mau maka, a i ʻole ka manaʻo e like me ke aka ma kahi ʻāpana o kou ʻike - he mau hōʻailona paha kēia o kahi retina i hemo).
• Inā pilikia ʻoe i ka ale ʻana i ka meaʻai a mea inu paha.
• Inā ke kahe nei ke koko ma kahi āu i hana ʻia ai ke ʻoki kino, pehu, a he wai melemele paha (hiki i kēia ke ʻano he maʻi).

He mea nui loa: Inā pilikia ʻoe a i ʻole kāu keiki i ka hanu ʻana , he pilikia ia. E hele koke i ka haukapila kokoke loa, a i ʻole e kelepona i ka 1990.

He aha nā nīnau koʻikoʻi e nīnau aku ai i ke kauka?

Ke ʻike ʻoe ua loaʻa iā ʻoe a i ʻole kāu keiki ka maʻi Stickler, hiki iā ʻoe ke nīnau i nā nīnau kauka e like me kēia:

• Pehea ke koʻikoʻi o kēia ʻano i kapa ʻia ʻo Stickler Syndrome?
• He aha ke kumu o kēia?
• Pehea lā e pili ai kēia i ke ola o kaʻu keiki i kēlā me kēia lā?
• He aha nā pilikia e pono iaʻu e hopohopo nui ai? He aha ko lākou mau hōʻailona?

Ma waho aʻe o kēia mau nīnau, e kamaʻilio me kāu kauka e pili ana i kekahi mea āu e noʻonoʻo nei, nā makaʻu, a i ʻole nā ​​kānalua āu.

ʻO ka mea hope loa, nā mea nui loa (Leka Lawe-Home)

Hiki ke hopohopo iki ka lohe ʻana i ka maʻi Stickler. Akā e hoʻomanaʻo i kēia mau mea:

• He maʻi hoʻoilina kēia, ʻaʻole ia he mea ma muli o kou mālama ʻole.
• Ma muli o ka hoʻopili nui ʻana i nā ʻiʻo pili , hiki iā ia ke hoʻololi i nā maka, nā pepeiao, nā hono, a me ka maka.
• Hiki ke ʻokoʻa loa nā hōʻailona mai kēlā kanaka a kēia kanaka .
• ʻOiai ʻaʻohe lāʻau lapaʻau piha, nui nā lāʻau lapaʻau i loaʻa e kōkua i ka kaohi ʻana i nā hōʻailona a ola i kahi ola maikaʻi aʻe .
• ʻO ka ʻike mua ʻana a me ka hoʻomaka ʻana o ka lāʻau lapaʻau nā ala maikaʻi loa e hoʻokō ai i nā hopena holomua.
• Inā loaʻa kēia maʻi i kekahi o kou ʻohana, he mea nui e ʻimi i ka ʻōlelo aʻoaʻo genetic .

Ma ka hopohopo ʻole a me ka hahai ʻana i nā ʻōlelo aʻoaʻo lapaʻau kūpono, hiki i ke kanaka me ka Stickler syndrome ke hoʻonohonoho i ke kahua no kahi ola maikaʻi e like me nā mea ʻē aʻe. Inā he mau nīnau hou aku kāu, mai kānalua e kamaʻilio me ke kauka.

ʻO ka maʻi Stickler, nā maʻi genetic, nā ʻiʻo pili, collagen, ka hemahema o ka ʻike, ka hemahema o ka lohe, nā maʻi hui, ke olakino o nā keiki