He pilikia ulu ko kāu kaikamahine? E kamaʻilio kākou e pili ana i ka Rett Syndrome?

Ua ʻike paha kāu keiki liʻiliʻi, ʻoiai he kaikamahine, i kekahi mau lohi o ka ulu ʻana a i ʻole ka paʻakikī i ka hana ʻana i nā mea a lākou i hana ai ma mua. E noʻonoʻo, ua hoʻōki koke kahi keiki i hana maikaʻi no ʻeono mahina i ke aʻo ʻana i nā mea hou a poina i nā mea a lākou i aʻo ai ma mua. He mea maʻamau loa ia no ka makuahine a makua paha ke makaʻu a hopohopo i ka wā e ʻike ai lākou i kahi mea e like me kēia. I kēia lā e kamaʻilio mākou e pili ana i kahi ʻano kakaikahi loa, akā he mea nui e ʻike, kahi e pili nui ai i nā kaikamahine. ʻO kēia ka mea a mākou e kapa nei ʻo Rett Syndrome .

He aha ka Rett Syndrome? I ka pōkole...

I ka ʻōlelo maʻalahi, he maʻi laha ʻole ka Rett Syndrome a me ka maʻi neurological . Hoʻopilikia nui ia i nā kaikamahine. Hoʻokumu ʻia ia e kahi ʻano genetic i loko o kahi gene i loko o ko mākou kino, ʻo ia hoʻi kahi gene i kapa ʻia ʻo `MECP2`. He kuleana koʻikoʻi kēia gene `MECP2` i ka ulu ʻana o ko mākou lolo a me ka hoʻololi ʻana o ka ʻike ma waena o nā cell nerve, ʻo ia hoʻi, ka pilina ma waena o nā cell nerve (synapse) . No laila, i ka wā e loli ai kēia gene, hoʻopilikia ia i ka ulu ʻana o ka lolo o ke keiki.

Ma kēia kūlana, ʻo nā mahina mua o ke ola o ke keiki, maʻamau a hiki i kahi o 6 mahina, e ulu like me nā keiki ʻē aʻe. Hana lākou i nā mea kūpono no ko lākou mau makahiki, e like me ke kolo ʻana, ka minoʻaka ʻana, a me ka hoʻoneʻe ʻana i ko lākou mau lālā. Eia naʻe, ma hope o kahi o 6 mahina, hoʻomaka ke keiki e nalowale i nā mākau a me nā hiki i aʻo mua ʻia. No ka laʻana, ʻo ka hiki ke paʻa i kahi mea pāʻani me nā lima ʻelua, e peahi i ko lākou makuahine, a e ʻōlelo i nā huaʻōlelo e emi ana. ʻIke ʻia kēia mau hōʻailona ma nā pae like ʻole i ka wā e ulu ana ke keiki. Eia naʻe, hoʻokahi mea e hoʻomanaʻo ai, ʻoiai ua pau kēia mau hōʻailona i ka ʻino (holomua) i ka hala ʻana o ka manawa, ʻaʻole lākou e nalo loa. No laila, pono kēia mau keiki i ka mālama kūikawā a me ke kākoʻo i ko lākou ola a pau.

He aha nā hōʻailona o ka Rett Syndrome?

E like me ka mea i ʻōlelo ʻia ma mua, hiki i ke keiki ke ulu maʻamau a hiki i ka 6 mau mahina. ʻO nā hōʻailona mua o ka Rett Syndrome he lohi ka ulu ʻana . ʻO ke ʻano kēia ua lohi ke keiki i ka hana ʻana i nā mea kūpono no ko lākou mau makahiki, no ka laʻana, ʻaʻole e kolo ana i ka wā e kolo ana nā keiki ʻē aʻe, e peahi ana i ko lākou mau lima, a i ʻole e hoʻomaka ana e kamaʻilio.

I ka ulu ʻana o ke keiki, ʻike maopopo ʻia nā hōʻailona o ka hoʻihoʻi ʻana o ka ulu ʻana, kahi e nalowale hou ai nā mea i aʻo ʻia.

Nā hōʻailona e hoʻopilikia ai i nā ʻiʻo, nā neʻe ʻana, a me ke ʻano o ke keiki:

• Nā pilikia me ke kaulike a me ka hoʻonohonoho ʻana i ka wā e hele ana: Paʻakikī ke kū a me ka hele wāwae. Hiki ke hāʻule pinepine.
• Paʻakikī i ka ʻōlelo ʻana:Lilo i mea paʻakikī ke ʻōlelo a hōʻike i nā manaʻo. Hiki i kekahi mau keiki ke nalowale i ka hiki ke ʻōlelo piha.
• Paʻakikī i ka moni ʻana a i ʻole ka nau ʻana i ka meaʻai: Hiki i kēia ke alakaʻi i ka loaʻa ʻole o ke keiki i ka meaʻai e pono ai, ka emi ʻana o ke kaumaha, a me ka nele i ka meaʻai .
• Ka nāwaliwali o nā ʻiʻo a i ʻole ka paʻakikī (spasticity): hiki ʻole ke hoʻomalu pono i nā lālā.
• Ka paʻakikī e hana i nā neʻe maʻamau ma ke kauoha (apraxia): Eia kekahi laʻana, hiki ʻole ke hana pēlā ke ʻōlelo ʻia e "peahi i kou lima," akā i kekahi manawa hiki ke peahi i kou lima ke kū mālie.
• Nā neʻe lima hou: ʻO nā neʻe lima hou e like me ke ʻū ʻana, ka ʻū ʻana, a me ke paʻi lima ʻana he ʻano maʻamau ia o kēia maʻi.

Nā hōʻailona ʻē aʻe:

• Nā pilikia hiamoe: ʻAʻole hiamoe maikaʻi i ka pō, ala pinepine.
• Nā pilikia o ka ʻōnaehana hoʻoheheʻe: nā mea e like me ka reflux a me ka constipation .
• Ke kīnā noʻonoʻo: Hiki ke hoʻemi ʻia nā hiki ke aʻo.
• Ka hoʻomaha pinepine ʻole a me ka huhū.
• Scoliosis: Piʻo ke kuamoʻo i ka ʻaoʻao.
• Ulu lohi: ʻOi aku ka lohi o nā mea e like me ke kiʻekiʻe a me ka piʻi ʻana o ke kaumaha ma mua o nā keiki ʻē aʻe.

ʻO nā hōʻailona i hiki ke hoʻoweliweli i ke ola i kekahi manawa:

• Nā pilikia hanu: Hanu kūpono ʻole, paʻa ʻana i ka hanu, a pēlā aku.
• Nā ʻano kū ʻole o ka puʻuwai.
• Nā ʻōʻili.

He mau hiʻohiʻona kūikawā ko nā helehelena o nā keiki me ka Rett Syndrome?

Hiki i nā keiki me ka Rett Syndrome ke loaʻa i kahi poʻo liʻiliʻi ke hoʻohālikelike ʻia me ke koena o ko lākou kino. Ua kapa ʻia kēia he microcephaly . Hiki i kēia ke hoʻonui iki i nā hiʻohiʻona o ka helehelena. Eia nō naʻe, ʻaʻohe hiʻohiʻona helehelena kikoʻī i kū hoʻokahi i kēia maʻi, e like me "ʻo kēia ke ʻano o ka helehelena."

I kekahi manawa, hiki ke like nā hōʻailona o ka Rett Syndrome me nā maʻi ʻē aʻe i kapa ʻia ʻo Angelman Syndrome . Loaʻa nā mea like i nā maʻi ʻelua, e like me nā pilikia o ka ʻōlelo a me ke kamaʻilio ʻana, nā lohi o ka ulu ʻana, nā hopu ʻana, a me nā pilikia hiamoe. Eia nō naʻe, he mau hiʻohiʻona helehelena kūikawā ko Angelman Syndrome , e like me nā maka hohonu, ka waha ākea, a me nā hakahaka nui ma waena o nā niho. ʻAʻohe o kēia mau hiʻohiʻona helehelena kūikawā o Rett Syndrome .

Nā Pae o ka Rett Syndrome

Hele kēia maʻi ma nā pae like ʻole i ka wā e ulu ana ke keiki. I kēlā me kēia pae, hiki i ke keiki ke hōʻike i nā hōʻailona like ʻole. Eia naʻe, ʻaʻole hele nā ​​​​keiki āpau ma kēia mau pae āpau ma ke ʻano like. No ka laʻana, ʻo kekahi mau keiki me ka Rett Syndrome ʻaʻole hiki ke hele.

Nā pae o ka maʻi Rett:

1. Pae I - Pae hoʻomaka mua: Hoʻomaka kēia ma waena o 6 a me 18 mau mahina. Lohi ka ulu ʻana o ke keiki. No ka laʻana, lohi ka kolo ʻana, a emi iho ka hiki ke nānā pololei i ka makuahine. Lilo ka paʻa ʻole o nā ʻiʻo o ke keiki ( haʻahaʻa ke kani o nā ʻiʻo ), a hiki ke loaʻa nā pilikia hānai.

2. Pae II - Pae holomua wikiwiki: Hana pinepine kēia ma waena o nā makahiki 1 a me 4. Hiki i ke keiki ke nalowale i ka hiki ke ʻōlelo a hoʻohana i ko lākou mau lima. Hiki iā lākou ke ʻū pinepine i ko lākou mau lima. Hiki i kekahi mau keiki ke hōʻike i nā ʻano like me nā keiki me ka Autism Spectrum Disorder, e like me ka nalowale o ka hoihoi i ka launa pū ʻana.

3. Pae III - Pae Plateau a i ʻole pae paʻa manawa pōkole: Hana pinepine kēia ma waena o nā makahiki 2 a me 10. ʻO kekahi o nā hōʻailona i koʻikoʻi i ka pae ʻelua, no ka laʻana, nā mākau kamaʻilio a me nā mākau neʻe, e hoʻomaikaʻi iki paha. Hiki iā lākou ke hōʻike i ka hoihoi i ka launa pū ʻana. He mea maʻamau nā hopu ʻana i kēia wā.

4. Pae IV - Ka emi ʻana o ka neʻe ʻana ma hope: Hiki ke hana ʻia kēia i kēlā me kēia manawa ma hope o ka Pae III. Hiki i ke keiki ke nalowale i ka hiki ke hele a me ka ikaika o nā ʻiʻo. Eia nō naʻe, pono e hoʻomau ʻia nā mākau kamaʻilio a me ka noʻonoʻo o ke keiki i kēia pae.

He aha nā kumu o ka Rett Syndrome?

Hoʻokumu pinepine ʻia ka Rett Syndrome e kahi ʻano genetic i loko o kahi gene i kapa ʻia ʻo `MECP2`. E like me kaʻu i ʻōlelo ai ma mua, kuhikuhi kēia gene i ka hana ʻana o kahi protein i kapa ʻia ʻo `MECP2`. Kōkua kēia protein i ka mālama ʻana i nā pilina (synapses) ma waena o nā cell nerve a kōkua i ka hana pono ʻana o ka lolo o ke keiki.

Eia nō naʻe, ʻaʻole pili nā hihia āpau o ka Rett Syndrome i ka gene MECP2. ʻO kekahi mau ʻano genetic (no ka laʻana, nā holoi ʻana) a i ʻole nā ​​​​ʻano like ʻole i nā genes ʻē aʻe, e like me CDJK5 a me FOXG1, hiki ke hana i nā hihia Rett Syndrome atypical. I kekahi manawa, hiki ke hana ʻia kēia mau hōʻailona e nā genes i ʻike ʻole ʻia.

ʻO ka mea nui, ʻo kēia loli hoʻoilina e hana pinepine ʻia me ka manaʻo kū ʻole/me ka manaʻo ʻole . ʻO ia hoʻi, ʻaʻole ia i hoʻoilina pinepine ʻia mai nā mākua a i nā keiki. No laila, ʻaʻole pono ʻoe e manaʻo hewa nui no ia mea.

Loaʻa i nā keikikāne ka Rett syndrome?

ʻO ka maʻamau, hoʻopilikia wale ka Rett Syndrome i nā kaikamahine. ʻO kēia no ka mea ʻo ka loli genetic e hoʻokumu ai i ia mea e hana ʻia ma ka chromosome X. E like me kou ʻike, he ʻelua mau chromosome X (XX) ko ka wahine.

No ka mea, hoʻokahi chromosome X a hoʻokahi chromosome Y (XY) ko nā keikikāne, he mea kākaʻikahi loa kēia ʻano. Inā loaʻa kēia ʻano like ʻole i ke keikikāne ma kāna chromosome X wale nō, hiki ke koʻikoʻi loa nā hōʻailona. Hiki i kēia ke alakaʻi i ka hāʻule ʻana o ka manawa a i ʻole ka make i ka wā hānau.

Ua kapa nā kauka i kēia kūlana i nā keikikāne ʻo "MECP2-related severe neonatal encephalopathy." Hiki i kēia kūlana ke hōʻike i nā hōʻailona like me ka Rett syndrome, e like me ke kīnā noʻonoʻo, nā hopu ʻana, a me nā pilikia neʻe.

Nā pilikia o ka Rett Syndrome

Aia kekahi keiki me kēia maʻi i ka pilikia o ka loaʻa ʻana o nā pilikia e hiki mai ana, a hiki i kekahi o ia mau mea ke hoʻoweliweli i ke ola:

• ʻO ka niumonia aspiration: ʻO ke ʻano o ka niumonia i hoʻokumu ʻia e ka meaʻai a mea inu paha e komo ana i loko o nā māmā.
• Epilepsy: Nā hopu pinepine.
• Ka hana ʻino o ka puʻuwai: No ka laʻana, nā kūlana e like me ka Long QT syndrome .
• Nā pilikia o ka māmā a i ʻole ka hanu ʻana.

Pehea e ʻike ai nā kauka i ka Rett Syndrome?

Hoʻomaopopo ke kauka i ka Rett Syndrome ma ka nānā ʻana i ke keiki a me ka hana ʻana i nā hoʻokolohua e pono ai. Ma ke ʻano he makuahine, hiki iā ʻoe ke kānalua he hewa kekahi mea ke ʻole kāu keiki e hoʻokō i nā pae hoʻomohala no ko lākou mau makahiki, ʻoiai i ka makahiki mua. ʻO ia ka manawa e lawe ai ʻoe i kāu keiki i kahi pediatrician a i ʻole kāu kauka ʻohana.

E nānā kāu kauka i kāu keiki a nānā i nā hōʻailona. A laila, e hana lākou i nā hoʻokolohua e kāpae i nā kūlana ʻē aʻe i loaʻa nā hōʻailona like. I ka hapa nui o nā hihia, hiki ke hōʻoia ʻia ke kūlana e kahi hoʻāʻo koko genetic e nānā ana i kahi loli i ka gene MECP2. ʻAʻole koi kēia hoʻāʻo genetic i kekahi hoʻomākaukau kūikawā a i ʻole kahi noho haukapila.

Hoʻomaopopo pinepine ʻia ka maʻi ma waena o nā makahiki 6 a me 18 mau mahina, ʻoiai ʻo ia ka manawa e hoʻomaka ai nā hōʻailona.

No ka mea, he maʻi laha ʻole ka Rett Syndrome , hiki i kekahi manawa ke paʻakikī ke loaʻa koke kahi hōʻailona. Hiki ke lōʻihi ka manawa no ka hui lapaʻau e kāpae i nā kūlana ʻē aʻe a hōʻoia i kēia. Hiki ke hoʻonāukiuki ke kali i nā pane, akā ʻo ka loaʻa ʻana o kahi hōʻailona maopopo e hiki ke kōkua i ka hui lapaʻau e mālama i nā hōʻailona o kāu keiki.

Pehea e mālama ʻia ai ka Rett Syndrome?

Aia nā koho lapaʻau i nā hōʻailona kikoʻī o ke keiki. No ka laʻana, hiki ke hāʻawi ʻia nā lāʻau lapaʻau no nā hopu ʻana a me nā maʻi neʻe. Inā pilikia ke keiki me nā mākau neʻe a me nā hiki ke ʻōlelo, hiki i ke kauka ke ʻōlelo i nā lāʻau lapaʻau e like me:

• Hoʻōla hana: Kōkua i nā hana o kēlā me kēia lā a hoʻomaikaʻi i ka hana lima.
• Hoʻōla kino: Kōkua me nā mea e like me ka hele wāwae, ke kaulike, a me ka hoʻoikaika ʻana i nā ʻiʻo.
• Hoʻōla ʻōlelo: Kōkua i ka hoʻomaikaʻi ʻana i ka ʻōlelo a me ke kamaʻilio ʻana.

No nā keiki 2 makahiki a ʻoi aku, ua hōʻike kahi lāʻau i kapa ʻia ʻo Trofinetide i nā hopena hoʻohiki i nā hoʻokolohua lapaʻau . ʻO ia ka lāʻau lapaʻau mua i ʻāpono ʻia e ka U.S. Food and Drug Administration (FDA) no ka Rett Syndrome . ʻAʻole ia he lāʻau lapaʻau, akā ua manaʻo ʻia he lāʻau lapaʻau hoʻololi maʻi. Pono ʻoe e kūkākūkā i kēia koho me kāu hui lapaʻau a hoʻoholo pū.

Eia kekahi, hiki i kāu keiki ke pōmaikaʻi mai:

• Ke kau nei i kahi pale kākoʻo a i ʻole ke ʻoki ʻana no ka scoliosis .
• Nā nānā pinepine ʻana no nā maʻi puʻuwai.
• Kākoʻo meaʻai.
• Nā papahana hoʻonaʻauao kūikawā ma ke kula.

ʻAʻohe lāʻau lapaʻau no ka Rett Syndrome i kēia manawa. Eia nō naʻe, hiki i nā kauka o kāu keiki ke kōkua i ka hoʻokele ʻana i nā hōʻailona i ko lākou ola a pau.

Āhea wau e lawe ai i kaʻu keiki e ʻike i ke kauka?

Inā ʻike ʻoe ʻaʻole i hoʻokō kāu keiki i nā pae holomua kūpono no ko lākou mau makahiki, ʻoiai ma hope o 6 mau mahina, e ʻike koke i ke kauka.

Inā ua ʻike ʻia kāu keiki me ka Rett Syndrome , inā loaʻa iā lākou kekahi mau hopena ʻaoʻao mai ka lāʻau lapaʻau, a inā loaʻa iā lākou nā hōʻailona hou a inā e ʻoi aku ka ʻino o nā hōʻailona e kū nei, e hoʻomaopopo i kāu kauka.

He aha ka lōʻihi o ke ola o kahi keiki me ka Rett syndrome?

He nui ka poʻe me ka Rett Syndrome e ola maikaʻi ana a hiki i ko lākou mau makahiki 40 a ʻoi aku. Inā ʻaʻole koʻikoʻi nā hōʻailona, ​​​​hiki i kāu keiki ke loaʻa kahi ola maʻamau. Eia nō naʻe, inā ulu nā pilikia olakino, hiki ke hoʻopōkole ʻia ke ola.

ʻO ke kauka ke kanaka maikaʻi loa e nīnau ai e pili ana i ke ola o kāu keiki. Hiki iā ia ke hoʻomaopopo i ke kūlana kikoʻī o kāu keiki a wehewehe iā ʻoe.

Ka wānana o ka maʻi Rett

He maʻi ola ka Rett Syndrome . Hoʻopilikia like ʻole nā ​​​​hōʻailona i kēlā me kēia kanaka. Hiki i kāu keiki ke hoʻomalu i kā lākou neʻe ʻana, hele wāwae, a kamaʻilio ma o lākou iho. Eia nō naʻe, pono lākou i ka mālama ʻia i ka pō a me ka pō no ke koena o ko lākou ola.

Eia kekahi, pono kāu keiki e loaʻa nā manawa maʻamau me kā lākou hui lapaʻau e hoʻokele pono i nā hōʻailona a pale i nā pilikia. I kekahi mau hihia o ka Rett Syndrome, hiki i nā pilikia ke alakaʻi i ka make mua.

Hiki ke kaumaha ka ʻike ʻana ua loaʻa i kāu keiki kahi maʻi neurological laha ʻole. Hiki iā ʻoe ke hopohopo a kaumaha no ka mea ʻaʻole e ulu ana kāu keiki e like me nā keiki ʻē aʻe. ʻOiai e pono ana ke kino o kāu keiki i ka manawa hou a me ka mālama ʻana i kona ulu ʻana, mai hoʻokuʻu i ka manaʻolana. E noho pū nā kauka me ʻoe i kēlā me kēia ʻanuʻu o ke ala e hāʻawi i kāu keiki i ka mālama e pono ai.

Ke ʻimi nei nā kānaka noiʻi i nā lāʻau lapaʻau hou e hiki ke kōkua i nā keiki me ka Rett Syndrome ma o nā hoʻokolohua lapaʻau . Inā he mau nīnau kāu e pili ana i ka nānā ʻana a i ʻole ka lāʻau lapaʻau o kāu keiki, e nīnau i kāu kauka.

Nā mea nui e hoʻomanaʻo (Leka Lawe-Home)

He mea maʻamau ke kaumaha ke ʻike ʻoe ua loaʻa i kāu keiki ka Rett Syndrome . Akā e hoʻomanaʻo i kēia mau mea:

• ʻAʻole ʻoe hoʻokahi: ​​Aia kekahi mau mākua ʻē aʻe e kū nei i nā kūlana like. Ua mākaukau nā kauka, nā mea hoʻōla, a me nā hui kākoʻo e kōkua iā ʻoe.
• He mea nui ka ʻike mua ʻana: Inā ʻike ʻoe i ka lohi o ka ulu ʻana o kāu keiki, e ʻimi koke i ke kōkua lapaʻau.
• Hiki i ka lāʻau lapaʻau ke hoʻokele i nā hōʻailona: ʻOiai ʻaʻohe lāʻau lapaʻau piha, hiki i ka lāʻau lapaʻau a me nā therapies ke hoʻomaikaʻi i ke ʻano o ke ola o ke keiki.
• He ʻokoʻa kēlā me kēia keiki: ʻOkoʻa nā hōʻailona a me ka hopena o ka maʻi mai kēlā kanaka a kēia kanaka. E kōkua nā kauka iā ʻoe e hoʻomohala i kahi hoʻolālā mālama e kūpono loa i kāu keiki.
• E noho me ka manaʻolana: Ke holomua nei ka ʻepekema lapaʻau a ke hana ʻia nei nā noiʻi hou, no laila he mea nui e noho maikaʻi.

ʻO ka mea nui e hāʻawi i kāu keiki i ke aloha, ka mālama pono, a me ka mālama olakino kūpono.

ʻO ka Rett Syndrome, nā maʻi genetic, nā maʻi neurological, ka ulu ʻana o ke keiki, ka gene MECP2, ka lohi o ka ulu ʻana