ʻAʻole anei e hanu pono ana kāu pēpē? E aʻo kākou e pili ana i ka Congenital Central Hypoventilation Syndrome (CCHS)!

I kekahi manawa, hopohopo iki nā mākua ke ʻike lākou i nā loli liʻiliʻi i ke ʻano o ka hanu ʻana o kā lākou mau pēpē, ʻeā? He mea maʻamau ka makaʻu iki, ʻoiai inā ʻike ʻia kāu pēpē e hanu nui ana a hanu nui paha i ka wā e hiamoe ana. I kēia lā, e kamaʻilio mākou e pili ana i kahi maʻi laha ʻole e pono e ʻike nā mea a pau. Kāhea nā kauka i kēia ʻo 'Congenital Central Hypoventilation Syndrome', a i ʻole e kapa mākou iā ia ʻo '(CCHS)' no ka pōkole.

He aha ka CCHS? E hoʻomaopopo pono kākou.

I ka ʻōlelo maʻalahi, ʻo (CCHS) kahi maʻi kakaikahi i loaʻa i ka wā hānau a hoʻopilikia i ke koena o ke kino. ʻO ka mea nui, ʻaʻole hanu hohonu ke kino, a i ʻole e emi ana ka nui o ka hanu ʻana. He ʻoi aku ka koʻikoʻi o kēia ʻano i ka wā e hiamoe ana. Ua kapa nā kauka i kēia (Hypoventilation) (hypoventilation). E noʻonoʻo, i ka wā e hanu maʻamau ai mākou, e pehu a ʻaelike ko mākou mau māmā e lawe i ka oxygen a hoʻokuke aku i ke kalapona ʻokikene. Akā i loko o ke kanaka me (CCHS), ʻaʻole hana pono kēia kaʻina hanu, ʻoiai ka hanu ʻana a ke kino e hoʻomalu maoli ai, ʻaʻole ia e hana pono. ʻO ka hopena, e emi ana ka pae oxygen i loko o ke koko a piʻi ka pae kalapona ʻokikene me ke kumu ʻole. Hiki i kēia ke hoʻopilikia i nā ʻōnaehana he nui i loko o ke kino.

Hoʻopilikia kēia kūlana (CCHS) i ka ʻōnaehana nerve autonomic o ko mākou kino (Autonomic Nervous System) . I kēia manawa ke noʻonoʻo nei paha ʻoe i ke ʻano o kēia ʻōnaehana nerve autonomic. E noʻonoʻo, ke hoʻokele nei mākou i kahi kaʻa, hana mākou i nā mea e like me ka hoʻololi ʻana i ka gīnahi a me ka brake me ka ʻike. Akā, hana koke kekahi mau mea i loko o ko mākou kino, a ʻaʻole mākou e noʻonoʻo iā lākou. E like me ka hanu ʻana (hana ko mākou mau māmā ʻoiai ke hiamoe nei mākou!), ka ʻeli ʻana i ka meaʻai, ke kuʻi ʻana i ko mākou puʻuwai, ka kaohi ʻana i ka mahana o ko mākou kino, ka hou ʻana, a me ka ʻūlū ʻana o ka iris ke paʻi ka mālamalama i ko mākou mau maka. Hoʻomalu ʻia kēia mau mea a pau e ka ʻōnaehana nerve autonomic. Ke loaʻa iā mākou (CCHS), hoʻopilikia ʻia kēia mau kaʻina hana koʻikoʻi a koʻikoʻi. No laila, ma waho aʻe o ka hanu ʻana, hiki ke loaʻa nā pilikia i nā mea e like me:

• Ke kāohi nei i ke koko.
• Hana o ka ʻōpū.
• Ka helu o ka puʻuwai.
• Ka hoʻomalu ʻana i ka mahana o ke kino.

Ua kapa ʻia kēia kūlana ʻo (CCHS) ma kekahi mau inoa ʻē aʻe. Hiki i kāu kauka ke hoʻohana i kekahi o kēia mau inoa, no laila he manaʻo maikaʻi e ʻike iā lākou:

• ʻO ka Hypoventilation Waena Congenital
• ʻO ka hāʻule ʻana o ka mana kūʻokoʻa hānau ʻia
• ʻO ka hāʻule ʻana o ka hoʻokele hanu hānau ʻana
• ʻO ka maʻi Haddad
• I kekahi manawa ua kapa ʻia ʻo ia ʻo 'Ondine Syndrome', 'Ondine-Hirschsprung Disease', a i ʻole 'Ondine's Curse'.

Pehea ka maʻamau o ka CCHS?

ʻO kaʻoiaʻiʻo, he maʻi laha ʻole ka CCHS.E noʻonoʻo, he kakaikahi wale nō nā hihia, ma kahi o 1000 a 1200, i ʻike ʻia ma ka honua holoʻokoʻa. Eia nō naʻe, manaʻoʻiʻo nā kānaka ʻepekema i kekahi manawa, ma muli o nā kūlana (CCHS) i ʻike ʻole ʻia, aia kekahi kānalua e hiki ke hana ʻia kekahi o nā make koke ʻana o nā pēpē, ʻo ia hoʻi, ʻo Sudden Infant Death Syndrome (SIDS). ʻO ia hoʻi, ʻoiai paha he (SIDS), ʻo ke kumu nui paha he (CCHS). No laila, he mea nui loa ka makaʻala i kēia.

✨ Hearing health Verified Partner

Medical grade state-of-the-art hearing aids

Advanced hearing aids designed for clear hearing and noise control in the ear.

Check Availability →

He aha nā hōʻailona o CCHS? Pehea ʻoe e ʻike ai?

ʻIke pinepine ʻia nā hōʻailona mua o CCHS i ka wā hānau a i ʻole i loko o nā mahina mua o ke ola. Eia nā hōʻailona nui e ʻike ʻia:

• ʻO ke kala polū o nā lehelehe a i ʻole ka ʻili (Cyanosis): Ua like kēia me ka nele o ka oxygen. ʻIke nui ʻia kēia i ka wā e hiamoe ana ka pēpē.
• Ka hanu ʻana i kūpono ʻole i ka wā hiamoe (Hypoventilation): Manaʻo paha ka hanu ʻana he papau loa a wikiwiki paha. I kekahi manawa me he mea lā ua pau ka hanu ʻana no kekahi manawa.

Mea nui: Inā ʻike ʻoe i kēia mau hōʻailona, ​​​​pono ʻoe e ʻike koke i ke kauka.

Akā i kekahi manawa, inā ʻaʻole koʻikoʻi loa ke ʻano, hiki ke ʻike ʻia kēia mau hōʻailona ma hope o ke ola. A i ʻole, hiki ke ulu aʻe nā hōʻailona ʻē aʻe. E nānā e ʻike inā loaʻa i kāu pēpē kekahi o kēia mau mea:

• Nā ʻano ʻino o ka maka: No ka laʻana, hiki ke emi ke ʻano o ka pane ʻana o ka iris i ka mālamalama a me ke kani, hiki ke keʻa ʻia nā maka (strabismus), a i ʻole e loli ke ʻano āu e ʻike ai ma kahi mamao (hoʻololi ʻia ka ʻike hohonu).
• Hoʻemi ʻia ka ʻeha: ʻOiai kahi ʻeha liʻiliʻi hiki ke emi iki ka ʻeha.
• Ka nele o ka hormone ulu: ʻOi aku ka lohi o ka ulu ʻana o ka pēpē ma mua o nā keiki ʻē aʻe.
• E hou nui ana me ke kumu ʻole.
• Nā pilikia Gastrointestinal (GI): Reflux, constipation pinepine, a i kekahi manawa ka ālai ʻana o ka ʻōpū liʻiliʻi a i ʻole ka ālai ʻana o ka ʻōpū nui. Hiki ke ʻike ʻia ka maʻi Hirschsprung (CCHS) me CCHS.
• Mahana Kino Haʻahaʻa: Hiki i ke kino ke anu i nā manawa a pau.
• Nā pilikia o ka ʻōnaehana aʻalolo: Nā mea e like me ke kīnā o ke aʻo ʻana.
• Ka paʻakikī ke kāohi ʻana i ka helu o ka puʻuwai a me ke koko.

No ke aha e hana ʻia ai kēia CCHS? He aha ke kumu?

ʻAe, e nānā kākou i ke kumu o kēia kūlana i kapa ʻia ʻo (CCHS). ʻO ke kumu nui o kēia he mutation i loko o kekahi o kā mākou mau genes. Ua kapa ʻia kēia gene ʻo PHOX2B (Fox-2-B) gene.He mea nui loa kēia gene 'PHOX2B' no ka hana ʻana i kahi protein e kōkua ai i nā hunaola aʻalolo, ʻoiai kēlā mau hunaola o ka ʻōnaehana aʻalolo autonomic a mākou i kamaʻilio ai, e ulu pono i ka wā e ulu ana lākou i loko o ka ʻōpū ma ke ʻano he fetus.

No ka hapa nui o ka poʻe me CCHS, he loli hou kēia ʻano gene, he loli sporadic. ʻO ke ʻano kēia, ʻaʻole i hoʻoilina ʻia ka loli mai ka makuahine a i ʻole ka makuakāne, akā he loli hou ia i ke kino o ke keiki. Eia nō naʻe, i kahi helu liʻiliʻi loa o nā hihia, hiki ke hoʻoili ʻia mai kēlā hanauna a i kēia hanauna. ʻO ke ʻano kēia, ua loaʻa i kekahi o nā mākua kēia loli gene a ua hoʻoilina paha ke keiki.

Pehea ʻoe e ʻike pono ai inā loaʻa iā ʻoe ka CCHS? (Diagnosis)

ʻO ke ala wale nō a ʻoi loa e hōʻoia ai inā loaʻa iā ʻoe ka CCHS, ʻo ia ke hana i nā hoʻāʻo genetic e ʻike inā he mutation i loko o ka gene PHOX2B. ʻO kēia wale nō ke ala e hiki ai i nā kauka ke maopopo 100% inā loaʻa iā ʻoe ke ʻano a i ʻole.

Eia nō naʻe, hiki i nā kauka ke hana i kekahi mau hoʻokolohua ʻē aʻe e hoʻomaopopo i nā hopena o ke kūlana ma ke kino a e ʻike i ke kumu o nā hōʻailona. Eia kekahi laʻana:

• Nā Hoʻāʻo Koko: E nānā i nā mea e like me ka pae o ka oxygen a me ke kalapona ʻokikene i loko o ke kino.
• Inā loaʻa iā ʻoe nā hōʻailona o nā pilikia ʻōpū, e nānā iā lākou me kahi colonoscopy , malia paha me kahi biopsy .
• ʻO kahi Echocardiogram e nānā i ka hana o ka puʻuwai.
• Nā hoʻokolohua kiʻi e like me ka X-ray, CT scan, a i ʻole MRI e nānā i loko o ka umauma a me ka ʻōpū e ʻike ai inā he mau mea keakea.
• Nā hoʻokolohua Ophthalmologic e nānā i ke kūlana o nā maka.
• Nā Haʻawina Hiamoe : He hoʻokolohua koʻikoʻi loa kēia. Ma kēia, hoʻomoe ʻia ke keiki i loko o kahi lumi kūikawā ma ka haukapila a nānā ʻia nā mea like ʻole e like me nā ʻano hanu, ka helu o ka puʻuwai, a me nā pae oxygen me nā mīkini.

Hiki ke ho'ōla loa ʻia ka CCHS?

ʻO kahi nīnau a ka poʻe he nui e nīnau ai a kaupaona nei i ko lākou manaʻo, ʻo ia ka hiki ke ho'ōla loa ʻia ka (CCHS). ʻO ka ʻoiaʻiʻo, ʻaʻohe lāʻau lapaʻau kūikawā no ka CCHS i kēia manawa. He maʻi ia no ke ola holoʻokoʻa. Akā, mai hopohopo. Hoʻolālā ʻia nā lāʻau lapaʻau e kāohi i nā hōʻailona, ​​​​e hōʻemi i nā pilikia hiki ke hiki, a kōkua i ka mea maʻi e ola palekana, ʻoluʻolu, a maikaʻi hoʻi.

He aha ka lāʻau lapaʻau no kekahi me CCHS?

He nui ka poʻe me CCHS e pono ai ke kākoʻo hanu no ke ola holoʻokoʻa.He mea pono ia. Ua kapa ʻia kēia he 'Ventilator'. Pono kekahi poʻe iā ia i ka lā a pau, i nā manawa a pau. Akā, pono wale kekahi i ka wā e hiamoe ai. ʻO ka hana a kēia '(Ventilator)', ʻo ia ke kōkua i ke kino e hanu i kahi ʻano kani, e like me ka mea e pono ai. Hiki i kēia ke mālama i ka pae oxygen i loko o ke koko a pale i ka piʻi ʻana o ka pae carbon dioxide.

Eia kekahi, aia kekahi mau lāʻau lapaʻau kākoʻo ʻē aʻe. ʻOkoʻa kēia mau lāʻau lapaʻau ma muli o nā hōʻailona o kēlā me kēia kanaka:

• Hiki ke hoʻoponopono ʻia nā pilikia ʻike me nā aniani maka, nā aniani hoʻopili, a i ʻole ke ʻoki kino. Hiki i kēia mau mea ke kōkua i ka pale ʻana i nā maka mai ka mālamalama nui.
• ʻO ka lāʻau lapaʻau hormone ulu (GHT) no ka ulu ʻana me ka ʻole o ka ulu ʻana.
• Nā lāʻau lapaʻau e hōʻoluʻolu i nā hōʻailona o ka ʻōnaehana hoʻoheheʻe (e.g., 'Reflux', 'Constipation').
• E kāohi i ke koko a me ka helu o ka puʻuwai me nā lāʻau lapaʻau a i ʻole nā ​​​​ʻano lapaʻau ʻē aʻe .
• Hana ʻia nā hoʻokolohua loiloi maʻamau e ʻike mua i nā pilikia olakino ʻē aʻe.

Pono paha kēia kaʻina hana lapaʻau i ke kākoʻo o nā loea like ʻole . E noʻonoʻo, aia kekahi loea i kūpono no nā pilikia o kēlā me kēia kanaka. He mea nui loa ia no nā loea like ʻole e like me kēia e hui pū a mālama ma ke ʻano he hui. No ka mea, ʻaʻole ʻo (CCHS) kahi mea e hoʻopilikia wale i hoʻokahi ʻāpana o ke kino. No laila, ke hoʻohana kēlā me kēia kanaka i ko lākou ʻike loea e hoʻoponopono i nā pilikia like ʻole o ke keiki, ʻoi aku ka piha o ka mālama ʻana i loaʻa i ke keiki. Eia kekahi laʻana:

• Nā kauka cardiologists no nā maʻi puʻuwai.
• Hoʻoponopono ʻia nā pilikia o ka pepeiao, ka ihu, a me ka ʻāʻī e nā loea ENT .
• He poʻe loea nā endocrinologists i nā kelepa endocrine no nā pilikia e pili ana i ka hormone.
• He poʻe loea ʻo Gastroenterologists i nā maʻi gastrointestinal no nā pilikia o ka ʻōnaehana hoʻoheheʻe.
• He poʻe akamai nā neurologist i nā hopena o ka lolo a me ke aʻo ʻana.
• Hoʻoponopono nā kauka ophthalmologists i nā hōʻailona e pili ana i ka maka.
• Nā kauka mālama mua (e like me nā pediatricians).
• He poʻe loea nā Pulmonologists i nā pilikia hanu .
• Nā Kauka ʻŌlelo a me nā Kauka Hoʻoponopono ʻŌlelo.
• Nā Luna Hana Kaiaulu (e hāʻawi i ka ʻohana i ke kākoʻo noʻonoʻo a me ke kākoʻo pilikanaka e pono ai).

Aia kekahi ala e pale aku ai i ka CCHS?

I ka wā e kamaʻilio pinepine ai mākou e pili ana i kahi maʻi, kamaʻilio pū mākou e pili ana i ke ʻano o ka pale ʻana iā mākou iho mai ia mea. Eia nō naʻe, i ke ʻano o (CCHS), ʻaʻohe ala i hōʻoia ʻia e pale aku ai i kona hiki ʻana mai.Ma muli o ke kumu nui o ia mea ma muli o kahi kumu hoʻoilina (kahi loli ʻana i loko o ka gene PHOX2B), he mea paʻakikī iki ke pale aku. Eia nō naʻe, inā loaʻa i kekahi o ka ʻohana ka (CCHS), he manaʻo maikaʻi e kamaʻilio me ke kauka e pili ana i ke aʻo ʻana i ka hoʻoilina a me ka hoʻāʻo ʻana no nā poʻe ʻē aʻe.

Pehea lā ke ʻano o ke ola me CCHS? Nā mea nui e ʻike ai

Hiki ke ʻokoʻa loa ke ola a me ke kīnā o kekahi e noho nei me CCHS. Aia ia i nā mea e like me ke koʻikoʻi o ka maʻi, ka manawa e hoʻomaka ai ka mālama ʻana, a me ka holomua o ka mālama ʻana .

Eia nō naʻe, inā ʻike mua ʻia a mālama pono ʻia a mau , hiki i ka poʻe me ka CCHS palupalu ke ola holomua, huahua, a hauʻoli. Hiki iā lākou ke hele i ke kula, pāʻani, a hana pū i ka wā e ulu ai lākou. Eia nō naʻe, inā koʻikoʻi ka maʻi, a inā ʻaʻole i hāʻawi pono ʻia ka lāʻau lapaʻau a i ʻole ua lohi, hiki ke loaʻa nā kīnā koʻikoʻi, nā pilikia olakino, a me ka pōkole o ke ola. No laila , he mea nui loa ka ʻike ʻana i ka manawa kūpono a me ka lāʻau lapaʻau mau.

He mea nui loa kēia e hoʻomanaʻo: ʻOi aku ka nui o ka poʻe me CCHS e loaʻa i kekahi mau ʻano puʻupuʻu o ka ʻōnaehana nerve. No laila, he mea nui e nānā mau ʻia no kēia mau ʻano puʻupuʻu. ʻO ka wā mua e ʻike ʻia ai, ʻoi aku ka maʻalahi o ka mālama ʻana. Pono ʻoe e makaʻala loa e pili ana i kēia mau ʻano puʻupuʻu:

• ʻO ka Neuroblastoma
• ʻO ka Ganglioneuroblastoma
• ʻO ke Ganglioneuroma

No laila, mai hoʻopoina i ka hoʻomau ʻana i nā hoʻokolohua nānā e like me ka ʻōlelo a ke kauka.

Nā nīnau koʻikoʻi e nīnau i kāu kauka e pili ana iā CCHS

Inā ʻike ʻia ʻoe a i ʻole kekahi o kou ʻohana me CCHS, e nīnau pono i kāu kauka i kēia mau nīnau. E kōkua kēia iā ʻoe e hoʻomaopopo i ke kūlana a hoʻolālā i kāu mau hana aʻe:

• "Pehea ke koʻikoʻi o kaʻu/kaʻu keiki (CCHS)'?"
• "He aha nā ʻōnaehana kino (e laʻa me ka hanu ʻana, ka puʻuwai, nā ʻōpū) i hoʻopilikia ʻia e ke kūlana (CCHS) o kaʻu/kaʻu keiki?"
• "He aha ke ʻano o nā loea e pono ai iaʻu/mākou e ʻike? ʻEhia pinepine e pono ai iaʻu ke ʻike iā lākou?"
• "Pono anei au/kaʻu keiki i kahi Ventilator? Inā pēlā, pono anei iaʻu e hoʻohana ia mea i nā manawa a pau, a i ʻole i ka wā e hiamoe ana wale nō?"
• "ʻEhia pinepine e pono ai iaʻu e hana i nā hoʻokolohua e nānā i koʻu mau maka, puʻuwai, māmā, ʻōnaehana hoʻoheheʻe, a me nā ʻōnaehana kino ʻē aʻe?"
• "ʻEhia pinepine e pono ai iaʻu e hana i ka nānā ʻana no kēlā mau puʻupuʻu aʻu i ʻōlelo ai ma mua?"
• "He manaʻo maikaʻi anei no ke koena o koʻu ʻohana (e like me nā kaikaina, nā mākua) e loaʻa i ka hoʻāʻo genetic?"

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

ʻOiai he ʻano weliweli a kakaikahi ka CCHS, hiki ke kāohi ʻia inā ʻike pono ʻia ʻoe a hoʻomaka i ka mālama ʻana i ka manawa kūpono. ʻO ka mea nui, ʻo ia ke ʻimi koke i ke kōkua lapaʻau i ka wā e ʻike ai ʻoe i nā hōʻailona, ​​ʻoiai inā ʻike ʻoe i kekahi mea ʻē i ke ʻano hanu o kāu keiki liʻiliʻi, e like me ka cyanosis. ʻO ka mea nui, ʻaʻole e hopohopo, akā e hana me ka hoʻokaʻulua ʻole.

Hiki i ka noho ʻana me kēia maʻi ke paʻakikī no nā ʻohana, he ʻoiaʻiʻo kēlā. Akā e hoʻomanaʻo, ʻaʻole ʻoe hoʻokahi. Aia nā kauka, nā kahu maʻi, nā mea hoʻōla, a me nā loea mālama ola ʻē aʻe e kōkua a alakaʻi iā ʻoe a me kāu keiki. Me ka mālama pono ʻana i ke olakino, ka mālama aloha ʻohana, a me kahi ʻano maikaʻi, hiki i kahi keiki me CCHS ke ola i kahi ola hauʻoli a maʻamau. Mai makaʻu e nīnau i nā nīnau, e ʻimi i ka ʻike, a hāʻawi i kāu keiki i ka mea maikaʻi loa no lākou.

ʻCCHS , Congenital Central Hypoventilation Syndrome, congenital respiratory distress syndrome, ʻōnaehana nerve autonomic, gene PHOX2B, kākoʻo hanu, olakino pēpē, cyanosis, hoʻāʻo genetic