Loaʻa i kāu keiki kēia mau hōʻailona? E kamaʻilio kākou e pili ana i ka Noonan Syndrome

Ma ke ʻano he makuahine a makua paha, hopohopo mau paha ʻoe no ke olakino a me ka ulu ʻana o kāu keiki. I kekahi manawa he mea maʻamau ke makaʻu iki i ka ʻike ʻana i nā loli liʻiliʻi i ke ʻano o kāu keiki a i ʻole nā ​​pilikia ulu. I kēia lā e kamaʻilio mākou e pili ana i kahi kūlana genetic koʻikoʻi e pono ai i kēlā mau mākua ke makaʻala. ʻO ia ke ʻano i kapa ʻia ʻo Noonan Syndrome.

He aha ka Noonan Syndrome?

I ka ʻōlelo maʻalahi, he maʻi genetic ka Noonan Syndrome. Hoʻokumu ʻia ia e ka loli o nā genes i loko o ko mākou kino. Hiki i kēia maʻi ke hoʻopilikia i kāu keiki ma nā ʻano like ʻole. Hānau ʻia kekahi mau keiki me kēia maʻi, akā he ʻoluʻolu loa paha nā hōʻailona. ʻO ia hoʻi, hiki iā lākou ke ola i kahi ola maʻamau me ka ʻole o nā pilikia nui. Eia nō naʻe, ʻoi aku ka nui o nā pilikia o kekahi mau keiki.

Ma kēia kūlana, loaʻa paha i ke alo o ke keiki kekahi mau hiʻohiʻona ʻokoʻa . No ka laʻana, he lae kiʻekiʻe, ka hoʻonui ʻia ʻana o nā maka, nā pepeiao haʻahaʻa, a me ka ʻāʻī pōkole. Eia kekahi, he nui nā keiki me ka Noonan Syndrome he pōkole no ko lākou mau makahiki, ʻo ia hoʻi, he pōkole paha lākou. He mea maʻamau nō hoʻi nā pilikia o ka maka, ka haʻahaʻa o ke kani o nā ʻiʻo, a me ka maʻi puʻuwai hānau.

Akā eia ka mea, ʻaʻohe lāʻau lapaʻau no ka Noonan Syndrome. Akā, mai hopohopo! Hiki i kāu kauka ke hāʻawi iā ʻoe i ke alakaʻi āu e pono ai e mālama i kāu keiki i ke olakino e like me ka hiki. Hiki iā lākou ke hana pū me ʻoe e pale a ʻike paha i nā pilikia e kū mai ana mai ke ʻano. A laila hiki i kāu keiki ke ola i kahi ola piha a hana .

ʻO wai ka mea i loaʻa i kēia maʻi? Pehea ka maʻamau?

ʻO ka Noonan Syndrome kahi maʻi e hiki ke loaʻa i ka wā hānau i loko o kekahi . ʻAʻole hiki iā mākou ke wānana i ka mea nāna e loaʻa a ʻo wai ka mea ʻaʻole. Eia nō naʻe, ma ka helu helu, ma kahi o 50% o ka poʻe me Noonan Syndrome e hoʻoilina i ke ʻano mai kekahi o ko lākou mau mākua. I ka hapanui o nā hihia, he 50% ka manawa e hoʻoili ai ke kanaka me Noonan Syndrome i kā lākou keiki.

He maʻi hoʻoilina maʻamau ka Noonan Syndrome. ʻO ia hoʻi, ʻoi aku ka maʻamau ma mua o kekahi mau maʻi hoʻoilina kakaikahi ʻē aʻe. Ma ke ʻano kikoʻī, ua hōʻike ʻia ma waena o hoʻokahi i kēlā me kēia 1,000 a me 2,500 mau kānaka e loaʻa paha kēia maʻi.

He aha ke kumu o ka Noonan Syndrome?

ʻO ke kumu nui o kēia kūlana ma muli o ka nele o nā enzymes e kōkua i nā ʻiʻo o ko mākou kino e ulu a hoʻomohala.Hoʻokumu ʻia ia e nā loli i kekahi mau genes (nā mutations). ʻO ke kikoʻī, ʻo nā protein i hana ʻia e kēia mau genes i hoʻololi ʻia e noho hana no ka lōʻihi ma mua o ka mea e pono ai. Pale kēia i nā cell mai ka ulu ʻana a me ka māhele pono ʻana.

ʻElua ala e hiki ai ke kū mai ka Noonan Syndrome:

• Hoʻoilina: Loaʻa i ke keiki kēia maʻi mai kekahi o nā mākua.
• ʻO ka hoʻololi koke ʻana: He kūlana e kū mai ana ma muli o kahi loli hoʻoilina hou, me ka ʻole o kekahi o ka ʻohana i loaʻa i ke kūlana ma mua.

Hiki i nā hoʻāʻo hoʻoilina o kēia manawa ke ʻike i ka ʻano ʻē o ka hoʻoilina ma kahi o 80% o ka poʻe me Noonan Syndrome. Eia nō naʻe, ʻaʻole maopopo i nā kānaka noiʻi ke kumu pololei o ke kūlana i loko o ka heluna kanaka i koe.

Aia kekahi mau kūlana ʻē aʻe e like me ka Noonan Syndrome?

ʻAe, ʻo Noonan Syndrome kahi maʻi e pili ana i kahi hui o nā maʻi pili i kapa ʻia ʻo RASopathies . Hoʻokumu ʻia kēia mau maʻi āpau e nā ʻano ʻē e like me ke ʻano o ka ulu ʻana a me ka ulu ʻana o nā cell. No laila, ua like loa ko lākou mau hōʻailona.

ʻO kekahi mau maʻi ʻē aʻe e pili ana i ka māhele 'RASopathies':

• ʻO ka maʻi cardiofaciocutaneous
• ʻO ka maʻi Costello `(Costello syndrome)`
• ʻAno Neurofibromatosis 1 (NF1)
• ʻO ka maʻi Legius
• ʻO ka maʻi Noonan me nā lentigines he nui (i ʻike mua ʻia ʻo LEOPARD syndrome)
• ʻO ka maʻi Turner

He aha nā hōʻailona o ka Noonan Syndrome?

Hiki ke ʻokoʻa nā hōʻailona o ka Noonan Syndrome mai kēlā kanaka a kēia kanaka. Loaʻa i kekahi poʻe nā hōʻailona palupalu loa, aʻo kekahi poʻe he mau hōʻailona koʻikoʻi a hoʻoweliweli i ke ola. Aia ia i ka ʻāpana o ke kino o ke keiki i hoʻopilikia ʻia. Hoʻomaka ka hapa nui o nā hōʻailona i ka wā e ulu ana ke keiki i loko o ka ʻōpū, a i ʻole e ʻike ʻia ma mua o ka piha ʻana o ke keiki i 11 mau makahiki .

Nā hiʻohiʻona helehelena i ʻike ʻia

ʻO nā hiʻohiʻona helehelena i ʻike ʻia i nā keiki me ka Noonan Syndrome e mae mālie paha i ka wā e hiki ai ke keiki i ka wā makua . ʻO ia hoʻi, e emi iki paha ko lākou ʻike ʻia ma mua o ka wā mua. Hiki i kēia mau hiʻohiʻona ke komo pū me:

• Loaʻa ka lae kiʻekiʻe .
• He ʻauwaha hohonu ma waenakonu o ka lehelehe luna.
• Ka lihilihi ʻana o ka maka (ptosis).
• He ihu pālahalaha a me ka wēlau puʻupuʻu.
• Ua haʻahaʻa ke kau ʻana o nā pepeiao ma mua o ka maʻamau.
• Nā maka polū māmā a ʻōmaʻomaʻo paha.
• ʻO ka Strabismus kahi ʻano e hoʻonui ai ka mamao ma waena o nā maka a kūlou nā maka i lalo, i kekahi manawa e huli ana kekahi i kekahi.

Nā ʻano kino ʻē aʻe

Ma waho aʻe o nā hiʻohiʻona helehelena, aia kekahi mau hiʻohiʻona kino maʻamau:

• Ka pehu ʻana o nā manamana lima a i ʻole nā ​​kapuwaʻi.
• Nā kui me ke ʻano a i ʻole ke kala ʻē.
• ʻĀʻī pōkole a me ka laina lauoho haʻahaʻa ma ke kua o ka ʻāʻī, me ka ulana paha ma nā ʻaoʻao o ka ʻāʻī.
• Pōkole o ke kino (pōkole o ke kiʻekiʻe no ka makahiki).
• ʻO ka umauma poho (pectus excavatum) a i ʻole ka iwi umauma puka (pectus carinatum).

Maʻi puʻuwai

He nui nā keiki me ka Noonan Syndrome e loaʻa paha i ka maʻi puʻuwai hānau . Pono paha kekahi mau keiki i ka lāʻau koke no kēia maʻi puʻuwai. ʻAʻole paha e loaʻa i kekahi poʻe nā hōʻailona a hiki i ka wā ma hope o ke ola. ʻO nā maʻi puʻuwai maʻamau:

• ʻO ke kīnā septal atrial.
• ʻO ka cardiomyopathy hypertrophic.
• ʻO ka stenosis o ke aʻa puʻuwai.

Nā pilikia ʻē aʻe e hiki ke hana ʻia

Ma waho aʻe o kēia, hiki i ka Noonan Syndrome ke hana i kekahi mau pilikia ʻē aʻe:

• Nā pilikia hanu, no ka laʻana, ma muli o ka palupalu o ka larynx (laryngomalacia).
• Lymphedema (hōʻiliʻili ʻana o ka wai lymph i loko o nā lima a i ʻole nā ​​​​wāwae).
• Nā lohi o ka hoʻomohala ʻana .
• Ke kahe koko nei ma mua o ka maʻamau a i ʻole ka palapū maʻalahi.
• Nā pilikia hānai i ka wā kamaliʻi.
• Nā testicles i iho ʻole i nā keikikāne. Inā ʻaʻole mālama ʻia, hiki i kēia ke hoʻopilikia i nā pilikia hānau keiki.
• ʻO ke skoliosis.
• Nā pilikia ʻike a i ʻole ka nalowale o ka lohe (ka pilikia o ka lohe).
• Nā kīnā hānau e pili ana i ka puʻupaʻa.

He aha nā pilikia ʻē aʻe e pili ana me ka Noonan Syndrome?

He nui nā keiki me ka Noonan Syndrome e ulu lohi ana ma mua o ka maʻamau i ko lākou hiki ʻana i ka wā ʻōpio. Eia nō naʻe, hiki ke hānau ʻia lākou i kahi lōʻihi maʻamau. Ma kahi o 25% he kīnā aʻo. Hiki i kekahi hapa liʻiliʻi o lākou ke loaʻa i ke kīnā noʻonoʻo. Ma waena o 10% a me 15% o nā keiki me ka Noonan Syndrome e pono ai ka hoʻonaʻauao kūikawā. Hiki i ke kūlana ke hoʻoulu i ka lohi o ka ulu ʻana, nā pilikia ʻano, a i ʻole nā ​​​​maʻi ʻōlelo.

Loaʻa i kekahi mau keiki me ka Noonan Syndrome ka juvenile myelomonocytic leukemia (JMML) , kahi ʻano leukemia maʻamau ʻole e kū mai ana i ka wā kamaliʻi.Hiki ke hoʻonui iki ʻia ka pilikia o ka loaʻa ʻana o ka maʻi ʻaʻai umauma a i ʻole nā ​​maʻi ʻaʻai ʻē aʻe o nā kamaliʻi. Eia nō naʻe, ua manaʻo ʻia ka pilikia holoʻokoʻa ma kahi o 4% i ka hiki ʻana i ka makahiki 20. No laila, e hoʻomanaʻo, he haʻahaʻa loa ia o ka pilikia .

Pehea e ʻike ʻia ai ka Noonan Syndrome?

Hiki paha i kāu kauka ke kānalua i ka Noonan Syndrome ma hope o ka hoʻokolokolo kino a me ka loiloi ʻana i nā hōʻailona o kāu keiki. No ka hōʻoia ʻana i ka maʻi a me ka hoʻopau ʻana i nā kūlana ʻē aʻe, hiki i kāu kauka ke paipai i nā hoʻokolohua genetic .

Hiki ke hana ʻia kekahi mau hoʻokolohua ʻē aʻe no kēia:

• Hoʻāʻo helu koko piha (CBC).
• He kiʻi X-ray o ka umauma.
• He scan CT.
• ʻO ka echocardiogram kahi hoʻāʻo e nānā ai i ka hana o ka puʻuwai.
• He hoʻāʻo EKG (Electrocardiogram (EKG)).
• He hoʻokolokolo ultrasound.

Aia kekahi lāʻau lapaʻau no ka Noonan Syndrome?

ʻAʻole, ʻaʻohe lāʻau lapaʻau no ka Noonan Syndrome. Akā, mai hopohopo! Aia nā lāʻau lapaʻau kūpono e hiki ke kōkua iā ʻoe a me kāu keiki e hoʻokele i nā hōʻailona.

Pehea e mālama ʻia ai ka Noonan Syndrome?

E hoʻomohala ke kime lapaʻau o kāu keiki i kahi hoʻolālā lapaʻau no ka Noonan Syndrome e pili ana i nā hōʻailona o kāu keiki a me ko lākou koʻikoʻi. Hiki i kāu keiki ke loaʻa nā lāʻau lapaʻau e like me:

• Nā mea kōkua: e like me nā aniani a i ʻole nā ​​​​mea kōkua hoʻolohe.
• Hoʻōla ʻano a ʻōlelo paha .
• Kākoʻo hoʻonaʻauao no nā pilikia aʻo.
• Nā lāʻau lapaʻau no ka maʻi puʻuwai o ke keiki, nā pilikia kahe koko, a i ʻole ka lohi o ka ulu ʻana .
• Ka lāʻau lapaʻau no ka hormone ulu.
• Nā lāʻau lapaʻau adjunctive e like me ka compression therapy, kahi e hāʻawi ai i ka hōʻoluʻolu no nā kūlana e like me ka lymphedema.

I kekahi mau hihia, hiki i kāu kauka ke ʻōlelo aku i ke ʻoki kino . E hoʻomanaʻo, he mea nui ka ʻike mua ʻana no ka mālama pono ʻana a me ka mālama ʻana.

ʻO wai ka mea hiki ke hoʻokomo ʻia i loko o ka hui lapaʻau Noonan Syndrome a kaʻu keiki?

Ma waho aʻe o kāu pediatrician, hiki i ka hui lapaʻau e mālama ana i ke olakino o kāu keiki ke komo pū me nā loea e like me:

• Loea lapaʻau koko.
• He kauka loea i ka ʻōnaehana nerve (lolo, iwi kuamoʻo, a me nā aʻalolo) (Neurologist).
• Kauka lapaʻau ʻonika.
• Kauka maka.
• He kanaka loea i ka hoʻoilina.
• Kauka puʻuwai.
• Kauka lapaʻau endocrine.
• Kauka lapaʻau noʻonoʻo.
• Kauka ʻili (loea ʻili, lauoho, a me nā kui).

E ʻōlelo aku kāu hui mālama i ka lāʻau kūpono loa no kāu keiki. E nānā pū lākou i ke kūlana o kāu keiki a hana i nā hoʻololi e pono ai i ka lāʻau lapaʻau a i ʻole ke ʻano lapaʻau, ma muli o ke kūlana o ke keiki a me nā hopena ʻaoʻao.

Aia kekahi mea hiki iaʻu ke hana e hōʻemi i ka pilikia o kaʻu keiki i ka Noonan Syndrome?

ʻAʻole. ʻAʻohe mea hiki iā ʻoe ke hana e hōʻemi i ka pilikia o kāu keiki e loaʻa ana i ka Noonan Syndrome. Hoʻokumu ʻia ia e kahi hoʻololi genetic . Eia nō naʻe, inā loaʻa i kekahi o kou ʻohana ka Noonan Syndrome, hiki iā ʻoe ke kamaʻilio me kāu kauka e pili ana i ka hoʻāʻo genetic prenatal, hiki ke hana ʻia i ka wā hāpai .

He aha ka wā e hiki mai ana no ka poʻe me ka Noonan Syndrome?

ʻO ka hapa nui o ka poʻe me ka Noonan Syndrome e ola olakino a kūʻokoʻa.

E hana pū ana ke kime mālama o kāu keiki me ʻoe e hoʻokele i nā hōʻailona o kāu keiki a pale i nā pilikia. No laila, he mea nui e noho me ka manaʻolana.

I ka manawa hea ʻoe e ʻimi ai i ke kōkua lapaʻau no ka Noonan Syndrome?

Inā hoʻoulu ka Noonan Syndrome i ka maʻi puʻuwai hānau koʻikoʻi, pono paha ke ʻoki kino a me ka nānā mau ʻana e mālama i kāu pēpē i ke olakino a me ka palekana. Hiki i kāu kauka ke kūkākūkā i nā koho lapaʻau koke a me ka wā lōʻihi me ʻoe.

He mea maʻamau ka makaʻu i ka wā e loaʻa ai i kahi keiki hānau hou a keiki e ulu ana paha kahi hōʻailona lapaʻau. Eia nō naʻe, he nui nā keiki i ʻike ʻia me ka Noonan Syndrome he mau hōʻailona iki ko lākou . A hoʻomau lākou i ke ola piha a hana. E kamaʻilio me kāu kauka e pili ana i nā lāʻau lapaʻau kūpono a i ʻole nā ​​​​koho mālama e hoʻomau nei i hoʻopilikino ʻia i nā pono o kāu keiki. Hiki i ka lāʻau lapaʻau mua ke kōkua i ka hōʻemi ʻana i kou hopohopo a kōkua i kāu keiki e hoʻokō i nā hopena olakino maikaʻi loa.

E hoʻomanaʻo kākou i nā mea nui loa (Leka Lawe-Home)

ʻAe, e hōʻuluʻulu kākou i nā kumu koʻikoʻi mai nā mea a mākou i kamaʻilio ai:

• He maʻi hoʻoilina ka Noonan Syndrome.
• ʻOkoʻa nā hōʻailona o kēia, he akahai kekahi, a ʻoi aku ka koʻikoʻi o kekahi.
• Hiki iā ʻoe ke ʻike i nā mea e like me nā hiʻohiʻona helehelena kūikawā, ke kino pōkole, a me ka maʻi puʻuwai.
• ʻOiai ʻaʻohe lāʻau lapaʻau piha, aia nā lāʻau lapaʻau kūpono e hiki ai ke hoʻokele i nā hōʻailona .
• He mea nui loa ka ʻike ʻana i ka maʻi a hoʻomaka i ka lāʻau lapaʻau i ka wā mua .
• E kōkua ana kekahi hui o nā kauka loea i kāu keiki.
• He nui nā keiki me ka Noonan Syndrome e ola nei i nā ola hauʻoli a hana .

No laila, inā loaʻa i kāu keiki kēia mau hōʻailona, ​​mai hopohopo, e ʻike koke i ke kauka a loaʻa ka ʻōlelo aʻoaʻo. E hāʻawi lākou iā ʻoe i ke kōkua āpau āu e pono ai.

ʻO ka maʻi Noonan, nā maʻi genetic, ka maʻi puʻuwai hānau, ka lohi o ka ulu ʻana, nā hiʻohiʻona helehelena, ke olakino o nā keiki, ka hoʻāʻo genetic