Kua kite koe i tētahi mea rerekē i te mata o tāu tamaiti? Tērā pea he tawhiti rawa ōna kanohi, he poto rānei tōna kaki... Mena kei te ahua puhoi te tipu o tāu tamaiti me ēnei āhuatanga, ko te take pea he mate kāore anō kia rongohia e koe e kīia nei ko te 'Noonan Syndrome.' Kaua e manukanuka, ehara tēnei i te mea e mōhiotia ana e te tini o te tangata. Nō reira, me kōrero noa tātou mō tēnei i tēnei rā.
He aha rawa te mate Noonan?
He whakarāpopototanga noa iho, ko te mate Noonan he mate ira e whānau mai ana me te tamaiti. Ka pā tēnei ki te whanaketanga o ngā wāhanga rerekē o te tinana o te tamaiti. He tino ngawari ngā tohu o ētahi tamariki nā tēnei mate. Arā, kāore e kitea i waho. Heoi, tera pea ētahi tamariki he nui ake ngā raruraru hauora kino .
I tēnei āhua, tera pea he āhuatanga motuhake o te kanohi o te tamaiti (hei tauira, he rae whānui, he kanohi tawhiti), he poto te roa (te roa poto), he raruraru kanohi, me ngā mate manawa whānau.
Ko te mea nui, ahakoa kāore he rongoā motuhake mō te mate Noonan, he maha ngā maimoatanga me ngā aratohu whai hua hei āwhina i tāu tamaiti kia noho hauora. Ma tō tākuta e whakamārama nga mea katoa e hiahia ana koe me tāu tamaiti kia mōhio.
Ko wai ka pāngia e tēnei mate? He pēhea te noa o tōna pānga?
He mate te mate Noonan ka pā mai i te whānautanga ki te tangata. Ehara i te mea nā tetahi i puta ai.
- Te tuku iho mai i ngā mātua: Tata ki te 50% o ngā tamariki e pāngia ana e te mate Noonan, he mātua tō rātou e pāngia ana e te mate. Ko te tikanga, mēnā kei tētahi o ngā mātua te mate, e 50% te tūponotanga ka riro mai anō hoki i te tamaiti.
- Te tūponotanga matapōkere: I ētahi wā, ka puta anō hoki tēnei āhuatanga nā te huringa matapōkere (te whakarerekētanga ā-ira) i roto i ngā ira o te tamaiti, engari kāore he tangata o te whānau e pāngia ana e te āhuatanga.
Ehara tēnei i te mate onge pērā i tō whakaaro. I te toharite, kotahi i roto i te 1,000 ki te 2,500 pēpi e whānau ana ka pāngia e tēnei mate.
He aha te take o te mate Noonan?
He ira motuhake kei reira e kī ana ki ngā kiko o te tinana kia tipu, kia wehea. Ko te mate Noonan he maha ngā wā ka puta mai i ngā huringa ('whakarerekētanga') o ēnei ira. Nā tēnei huringa, ka roa ake te mahi a ngā pūmua e hangaia ana e aua ira i te wā e tika ana. He rite ki te rama e noho tonu ana, kaua e tineia i te wā e tika ana. Ka whakararuraru tēnei i te tipu me te wehenga noa o ngā pūtau.
He rite anō ngā āhuatanga ki tēnei?
Ae, ko te mate Noonan he mate nō tētahi rōpū mate e kiia nei ko te 'RASopathies'. He rite tonu ngā take ira o ētahi atu mate o tēnei rōpū. Nō reira, he rite tonu ngā tohumate tetahi ki tetahi.
Anei ētahi o aua āhuatanga:
- ``Te mate manawa me te kiri`'
- Te mate Costello
- ``Neurofibromatosis momo 1 (NF1)''
- Te mate Legius
- 'Te mate Turner'
He aha ngā tohu o te mate Noonan?
Ka rerekē rawa ngā tohu i waenga i te tamaiti me te tamaiti. Tērā pea he ngawari noa iho ngā tohu o ētahi tamariki, ko ētahi ia he kino rawa, he tohu mōrearea ki te ora. He maha ngā tohu ka tīmata i roto i te kōpū, ka puta rānei i mua i te 11 tau te pakeke.
Engari ko te mea pai, i te tipu haere o te tamaiti, ka memeha haere ngā āhuatanga motuhake o te kanohi.
Hei ngāwari ake te mārama, me wehewehe ēnei āhuatanga ki ētahi ripanga.
| Ngā āhuatanga kanohi e kitea ana | |
|---|---|
| Rae | Te tūnga o te rae teitei, whānui. |
| Ngā kanohi | Te whānui haere o te āputa i waenganui i ngā kanohi, te piko o ngā kanohi ki raro, te tukunga iho o ngā kamo (ptosis) , te strabismus , ngā kanohi kikorangi mārama, kakariki rānei. |
| Ihu | He ihu papatahi, he pongaponga whānui. |
| Taringa | Ngā taringa kei raro iho i te taumata noa. |
| Ngutu o runga | He rua hohonu i waenganui o te ngutu o runga. |
| Ētahi atu tohu e kitea ana i roto i te tinana | |
|---|---|
| kaki | He kaki poto, me ngā kopa kiri tāpiri (whatunga) i ngā taha e rua o te kaki. |
| Teitei | Te roa poto. |
| Uma | He pouaka totohu (pectus excavatum) he pouaka toronga ranei (pectus carinatum) . |
| Ngā maihao me ngā whao | Ngā pito o ngā maihao me ngā matimati e pupuhi ana, ngā maikuku he āhua rerekē, he tae kē rānei. |
Ngā raruraru e pā ana ki te ngākau
He maha ngā tamariki e pāngia ana e te mate Noonan, tera pea he mate manawa whānau. Tērā pea ētahi tamariki me rongoā tonu . Tērā pea ētahi tamariki ka pāngia e te mate manawa ā muri ake nei. Ko ngā mate manawa noa ko:
- He kōhao i waenganui i te atria o te ngākau (he hapa o te septal atrial).
- Te matotoru o te uaua o te ngākau (Hypertrophic cardiomyopathy).
- Te whakatōtōtanga o te uaua pūkahukahu.
Ētahi atu raruraru hauora pea
- Ngā uauatanga manawa: Hei tauira, ngā āhuatanga pēnei i te 'laryngomalacia'.
- Te pupuhi o ngā ringa me ngā waewae: Te pupū ake o te wai (lymphedema) nā te raruraru o te pūnaha lymphatic.
- Ngā whakaroa whanaketanga .
- Te toto ngāwari, te marō rānei .
- Te uaua ki te whāngai ū i te wā pēpi.
- Ngā rae kāore anō kia heke i roto i ngā tama . Ki te kore e rongoatia, ka arahi pea tēnei ki te kore tamariki ā muri ake nei.
- Te mate korokoro .
- Te ngoikore o te tirohanga, te rongo rānei.
- Ngā hapa whānau e pā ana ki ngā whatukuhu.
He aha atu ngā raruraru ka pā mai me tēnei?
He puhoi ake te whanaketanga o te nuinga o ngā tamariki e pāngia ana e te mate Noonan i te mea noa, inā koa i te wā taiohi. Waihoki, tata ki te 25% o ngā tamariki he ngoikoretanga ako pea. Heoi, he iti noa iho te tokomaha he ngoikoretanga hinengaro. Ko te tikanga o tēnei ka taea e te nuinga o ngā tamariki te ako noa. Tata ki te 10-15% o ngā tamariki me whai tautoko mātauranga motuhake.
Hei tāpiritanga, he iti noa te mōrearea o ētahi tamariki ki te whakawhanake i tētahi mate pukupuku toto onge o te tamarikitanga e kiia nei ko te 'juvenile myelomonocytic leukemia (JMML)' me ētahi atu mate pukupuku o te tamarikitanga. Kaua e manukanuka, he tino iti tēnei mōrearea, arā, 4% i te 20 tau te pakeke.
Me pēhea te tātaritanga a te tākuta i tēnei? (Tauātanga)
Tērā pea ka whakapae tō tākuta kei te pāngia koe e te mate Noonan i muri i te tirotiro tinana o tō tamaiti me te pātai atu mō ō tohumate. Hei whakaū i te mate me te whakakore i ētahi atu mate, ka tono pea tō tākuta i ngā whakamātautau maha.
Kei roto pea i ēnei whakamātautau:
- Te tatau toto katoa (CBC)
- X-ray o te uma
- Matawai CT
- He whakamātautau 'Echocardiogram' e tirotiro ana i te mahi a te ngākau
- He whakamātautau 'Electrocardiogram (EKG)' e tirotiro ana i te ngohe hiko o te ngākau.
- Ngā whakamātautau ira
- Matawai Ultrasound (`Ultrasound`)
He rongoā kei te wātea mō te mate Noonan?
Kāore anō kia kitea he rongoā mō te mate Noonan. Heoi anō, he maha ngā maimoatanga whai hua hei āwhina i te whakahaere i ngā tohu me te āwhina i te tamaiti kia ora hauora .
Mā te tīma hauora e rongoā ana i tāu tamaiti e whakawhanake he mahere maimoatanga i runga i ngā tohumate o tāu tamaiti me tōna kaha. Kei roto pea i te mahere:
- Ngā taputapu āwhina: Ngā mea pēnei i ngā mōhiti kanohi, ngā taputapu whakarongo rānei.
- Whakaora whanonga , whakaora kōrero rānei .
- Tautoko mātauranga: Te whakarato tautoko motuhake mō ngā āhuatanga ako hauā.
- Ngā Rongoā: Ngā rongoā hei rongoā i ngā raruraru ngākau, hei whakahaere i te toto, hei whakarei ake rānei i te tipu puhoi.
- Te rongoā homoni tipu .
- Ngā maimoatanga tāpiri: Ngā mea pēnei i te rongoā pēhi mō te lymphedema (pupuhi).
I ētahi wā, ka tūtohu pea tō tākuta kia pokanga. He mea nui te tautuhi wawe mō te maimoatanga whai hua me te whai i ngā mahi aroturuki.
He aha te āhua o te heke mai? Ā, ka taea tēnei te ārai?
Koinei te mea tino nui. Ko te nuinga o te hunga e pāngia ana e te mate Noonan he ora hauora, he oranga motuhake. Mā te tīma hauora o tāu tamaiti koe e āwhina ki te whakahaere i ngā tohu o tāu tamaiti me te ārai i ngā raruraru.
Nā te mea he huringa ira te take o tēnei mate, kāore he mea e taea e tātou te mahi hei ārai. Heoi, ki te pāngia tētahi o tō whānau e te mate Noonan, ka taea e koe te kōrero ki tō tākuta mō ngā whakamātautau ira i mua i te whānautanga.
He mea noa te mataku ina whiwhi te tamaiti i tētahi tātaritanga pēnei. Engari kia maumahara, he ngawari noa iho ngā tohu o te nuinga o ngā tamariki e pāngia ana e te mate Noonan. Ka taea e rātou te noho ora tonu, te ora kaha hoki. Nō reira, kōrero ki tō tākuta mō te maimoatanga pai rawa atu mō tāu tamaiti. Mā te tīmata wawe i te maimoatanga ka āwhina i tāu tamaiti kia whiwhi i ngā putanga hauora pai rawa atu.
Karere Tangohia ki te Kāinga
- He mate ira te mate Noonan. Ehara i te mea nā te he o ngā mātua.
- Ka rerekē rawa ngā tohu i ia tamaiti, i ia tamaiti. Tērā pea he ngawari noa iho ngā tohu o ētahi, ko ētahi me aro nui atu.
- He mea tino nui te tautuhi wawe i te mate, me te mahi tahi me tētahi tīma hauora e titoa ana e ngā tohunga maha.
- Ahakoa kāore he rongoā motuhake mō tēnei mate, he maha ngā maimoatanga hei āwhina i te whakahaere pai i ngā tohu.
- Ko te mea nui, mā te tirotiro me te tiaki hauora tika, ka taea e te nuinga o ngā tamariki e pāngia ana e te mate Noonan te ora tonu, te ora kaha, me te ora hauora.
💬 Comments (0)
Kaore ano kia tukuna he korero. Tāpirihia to korero ki konei mo te wa tuatahi.
Tāpirihia to korero