Kei tō tamaiti ēnei tohu? Me kōrero tātou mō te Mate Noonan

Hei whaea, hei pāpā rānei, kei te āwangawanga tonu koe mō te hauora me te whanaketanga o tāu tamaiti. I ētahi wā he mea noa te mataku ina kite koe i ngā huringa iti o te āhua o tāu tamaiti, i ngā raruraru whanaketanga rānei. I tēnei rā ka kōrero tātou mō tētahi āhuatanga ira nui me mōhio ngā mātua ki tēnā. Koia tētahi āhuatanga e kiia nei ko te Noonan Syndrome.

He aha te Mate Noonan?

He māmā noa iho, he mate ira te Noonan Syndrome. Nā te huringa o ngā ira o roto i tō tātou tinana i puta ai. Ka pā tēnei mate ki tāu tamaiti i ngā huarahi rerekē. Ka whānau mai ētahi tamariki me tēnei mate, engari he tino ngawari pea ngā tohu. Ko te tikanga ka taea e rātou te noho noa me te kore he raruraru nui. Heoi, tera pea he iti ake ngā raruraru o ētahi tamariki.

I tēnei āhua, tera pea he āhuatanga motuhake o te mata o te tamaiti. Hei tauira, he rae teitei, he whānui ake ngā kanohi, he taringa kei raro, me te kaki poto. Waihoki, he maha ngā tamariki e pāngia ana e te Mate Noonan he poto mō ō rātou tau, arā, he poto pea te āhua. He mea noa anō hoki ngā raruraru kanohi, te ngoikore o te uaua, me te mate manawa whānau.

Engari koinei te mea, kāore he rongoā mō te Noonan Syndrome. Kaua e manukanuka! Ka taea e tō tākuta te tuku tohutohu e hiahiatia ana e koe hei pupuri i te hauora o tāu tamaiti. Ka taea hoki e rātou te mahi tahi me koe ki te ārai, ki te kite rānei i ngā raruraru ka puta mai i te mate. Kātahi ka taea e tāu tamaiti te ora i te oranga ora, ora tonu .

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 . Kāore e taea te matapae ko wai ka pāngia, ko wai kāore. Heoi, e ai ki ngā tatauranga, tata ki te 50% o te hunga whai Mate Noonan ka riro mai i tētahi o ō rātou mātua te mate. I te nuinga o te wā, e 50% te tūponotanga ka tukuna atu e te tangata whai Mate Noonan ki tā rātou tamaiti.

He mate ira noa te Noonan Syndrome. Arā, he paku noa ake i ētahi atu mate ira onge. E ai ki ngā pūrongo, kotahi i roto i te 1,000 me te 2,500 tāngata ka pāngia e tēnei mate.

He aha te take o te mate Noonan?

Ko te nuinga o tēnei āhuatanga e puta mai ana i te korenga o ngā whākōkī e āwhina ana i ngā kiko o te tinana kia tipu me te whanake.Nā ngā panonitanga o ētahi ira (ngā whakarerekētanga ira) tēnei i puta ai. Ina koa, ka roa ake te kaha o ngā pūmua i hangaia e ēnei ira kua whakarerekētia i te wā e tika ana. Ka ārai tēnei i ngā pūtau kia tipu tika, kia wehea hoki.

E rua ngā huarahi ka puta ai te mate Noonan:

• Tuku iho: Ka riro i te tamaiti tēnei āhuatanga mai i tētahi o ngā mātua.
• Te whakarerekētanga ira tūpono: He āhuatanga e puta mai ana i tētahi huringa ira hou, kāore he mema o te whānau kua pāngia e te āhuatanga i mua.

Ka taea e ngā whakamātautau ira o nāianei te kite i te āhua rerekē o te ira i roto i te 80% o te hunga e pāngia ana e te Mate Noonan. Heoi, kāore anō kia mōhiotia e ngā kairangahau te tino take o te mate i roto i te toenga o te taupori.

He rite anō ētahi atu āhuatanga ki te Noonan Syndrome?

Ae, ko te Noonan Syndrome he mate nō tētahi rōpū mate e pā ana e kiia nei ko te RASopathies . Ko ēnei mate katoa e puta mai ana i ngā āhuatanga rerekē, pērā i te tipu me te whanaketanga o ngā pūtau. Nō reira, he tino ōrite ō rātou tohu.

Ko ētahi atu mate kei roto i te wāhanga 'RASopathies' ko:

• Te mate manawa me te kiri
• Te mate Costello
• Neurofibromatosis momo 1 (NF1)
• Te mate Legius
• Te mate Noonan me ngā lentigine maha (i mōhiotia i mua ko te mate LEOPARD)
• Te mate Turner

He aha ngā tohu o te Mate Noonan?

Ka rerekē ngā tohu o te Mate Noonan i ia tangata, i ia tangata. He tino ngawari ngā tohu o ētahi tāngata, ko ētahi he kino, he tohu morearea ki te ora. Kei te wāhanga o te tinana o te tamaiti e pāngia ana. Ko te nuinga o ngā tohu ka tīmata i te whanaketanga o te kukune i roto i te kōpū, ka puta rānei i mua i te 11 tau te pakeke o te tamaiti .

Ngā āhuatanga kanohi e kitea ana

Ko ngā āhuatanga kanohi e kitea ana i roto i ngā tamariki e pangia ana e te Mate Noonan ka memeha haere i te pakeketanga o te tamaiti . Arā, ka iti ake te kitea i tō te tīmatanga. Kei roto i ēnei āhuatanga ko:

• He rae teitei .
• He awaawa hohonu kei waenganui o te ngutu o runga.
• Te kamo e takoto kau ana (ptosis).
• He ihu papatahi, he pito pūangi.
• Kei raro iho i te tikanga te whakanoho o ngā pū taringa.
• He kikorangi mārama, he kakariki rānei ngā kanohi.
• Ko te strabismus he āhuatanga e piki haere ai te tawhiti i waenganui i ngā kanohi, ā, e piko ana ngā kanohi ki raro, i ētahi wā ka tahuri tetahi ki tetahi.

Ngā āhuatanga ā-tinana kē atu

Haunga ngā āhuatanga o te kanohi, he maha atu anō ngā āhuatanga tinana e kitea ana:

• Te pupuhi o ngā pito o ngā maihao, o ngā kapu rānei o ngā waewae.
• Ngā whao he āhua, he tae rerekē rānei.
• He kaki poto , he iti te huruhuru i te tuarā o te kaki, me te whatu pea i ngā taha o te kaki.
• Te poto o te roa (te poto o te roa mō te tau).
• He pouaka totohu (pectus excavatum), he kōiwi pouaka e puta ana (pectus carinatum).

Mate ngakau

He maha ngā tamariki e pāngia ana e te mate Noonan Syndrome, tera pea he mate manawa whānau . Tērā pea ētahi tamariki me rongoā tonu mō tēnei mate manawa. Ko ētahi atu, kāore pea e puta ngā tohu tae noa ki te wā e pakeke haere ana. Ko ngā mate manawa e tino kitea ana ko:

• Te koha o te septal atrium.
• Te mate ngakau hypertrophic.
• Te whakatōtōtanga o te uaua pūkahukahu.

Ētahi atu raruraru pea

Haunga tēnei, ka pā mai pea ētahi atu raruraru i te Mate Noonan:

• Hei tauira, he uaua ki te manawa nā te ngohengohe o te larynx (laryngomalacia).
• Lymphedema (te kohikohinga o te wai lymph i roto i ngā ringa, i ngā waewae rānei).
• Ngā whakaroa whanaketanga .
• He nui ake te toto i te mea noa, he ngawari rānei te marō.
• Ngā uauatanga o te whāngai i te wā pēpi.
• Ngā rae kāore anō kia heke i roto i ngā tama. Ki te kore e rongoatia, ka pā pea tēnei ki ngā raruraru momona.
• Te korokoro.
• Ngā raruraru tirohanga, te ngoikore rānei o te whakarongo (te ngoikore o te whakarongo).
• Ngā hapa whānau e pā ana ki te whatukuhu.

He aha atu ngā raruraru e pā ana ki te Noonan Syndrome?

He puhoi ake te whanaketanga o te nuinga o ngā tamariki e pāngia ana e te Mate Noonan i te mea noa i a rātou e taiohi ana. Heoi, tera pea ka whānau mai rātou i te roa noa. Tata ki te 25% he ngoikoretanga ako. He iti noa iho o rātou ka pāngia e te hauātanga hinengaro. I waenga i te 10% me te 15% o ngā tamariki e pāngia ana e te Mate Noonan me hiahia ki te mātauranga motuhake. Ka taea hoki e te mate te whakaroa i te whanaketanga, ngā raruraru whanonga, ngā raruraru kōrero rānei.

Ka pāngia ētahi tamariki e te mate Noonan Syndrome e te juvenile myelomonocytic leukemia (JMML) , he momo leukemia onge e puta ana i te tamarikitanga.Tērā pea ka paku piki ake te mōrearea o te mate pukupuku ū, o ētahi atu mate pukupuku rānei o te tamarikitanga. Heoi, e whakaarohia ana ko te mōrearea whānui he tata ki te 4% i te taenga ki te 20 tau. Nō reira, kia mahara, he tino iti te mōrearea .

Me pēhea te tautuhi i te mate Noonan Syndrome?

Tērā pea ka whakapae tō tākuta kei te mate koe i te mate Noonan i muri i te tirotiro tinana me te arotake i ngā tohu o tō tamaiti. Hei whakaū i te mate me te whakakore i ētahi atu mate, ka tūtohu pea tō tākuta i ngā whakamātautau ira .

He maha atu ngā whakamātautau ka taea te mahi mō tēnei:

• Te whakamātautau toto katoa (CBC).
• He hihi-X o te uma.
• He matawai CT.
• He whakamātautau te echocardiogram e tirotiro ana i te mahi a te ngākau.
• He whakamātautau EKG (Electrocardiogram (EKG)).
• He whakamātautau ultrasound.

He rongoā anō kei te wātea mō te mate Noonan?

Kāore, kāore he rongoā mō te Noonan Syndrome. Kaua e manukanuka! He maimoatanga whai hua hei āwhina i a koe me tāu tamaiti ki te whakahaere i ngā tohu.

Me pēhea te rongoā i te Mate Noonan?

Mā te tīma hauora o tāu tamaiti e whakawhanake he mahere maimoatanga mō te Mate Noonan i runga i ngā tohumate o tāu tamaiti me tōna kaha. Tērā pea ka whiwhi tāu tamaiti i ngā maimoatanga pēnei i:

• Ngā taputapu āwhina: pērā i ngā mōhiti kanohi, ngā taputapu whakarongo rānei.
• Whakaora whanonga, whakaora kōrero rānei .
• Tautoko mātauranga mō ngā hauātanga ako.
• Ngā rongoā mō te mate manawa o te tamaiti, ngā raruraru toto, te puhoi rānei o te tipu .
• Te rongoā homoni tipu.
• Ngā maimoatanga tautoko pērā i te rongoā pēhanga, e whakaora ana i ngā āhuatanga pērā i te lymphedema.

I ētahi wā, ka tūtohu pea tō tākuta kia pokanga . Kia maumahara, he mea nui te kitenga wawe mō te maimoatanga whai hua me te tiaki whai muri.

Ko wai ka taea te whakauru atu ki te tīma maimoatanga o te Mate Noonan a taku tamaiti?

Haunga tō tākuta tamariki, ko te tīma hauora e tiaki ana i te hauora o tāu tamaiti kei roto pea i ēnei:

• He tohunga rongoā toto.
• He tākuta tohunga ki te pūnaha io (roro, tuaiwi, me ngā io) (Tangata rongoā io).
• Tohunga mate pukupuku.
• Tākuta kanohi.
• Kairangahau ira.
• Tohunga ngākau.
• Tohunga endocrine.
• Tohunga roro.
• Tākuta kiri (tohunga kiri, makawe, me ngā whao).

Mā tō rōpū tiaki e tūtohu te maimoatanga tino tika mō tāu tamaiti. Ka aroturukihia hoki e rātou te āhua o tāu tamaiti, ā, ka whakarerekētia ngā rongoā, ngā tikanga maimoatanga rānei e tika ana, i runga i te āhua o te tamaiti me ngā pānga taha.

He aha ngā mea ka taea e au te mahi hei whakaiti i te tūponotanga o taku tamaiti ki te mate Noonan Syndrome?

Kāo. Kāore he mea ka taea e koe te mahi hei whakaiti i te mōrearea o te mate Noonan o tāu tamaiti. Nā te whakarerekētanga ira i puta mai . Heoi, ki te pāngia tētahi o tō whānau e te mate Noonan, ka taea e koe te kōrero ki tō tākuta mō te whakamātautau ira i mua i te whānautanga, ka taea te mahi i te wā e hapu ana .

He aha te heke mai mō te hunga e pāngia ana e te mate Noonan?

Ko te nuinga o te hunga e pāngia ana e te Mate Noonan he ora hauora, he oranga motuhake.

Ka mahi tahi te tīma tiaki o tāu tamaiti me koe ki te whakahaere i ngā tohu o tāu tamaiti, me te ārai i ngā raruraru. Nō reira, he mea nui kia noho tumanako tonu.

Āhea koe me rapu tohutohu hauora mō te mate Noonan?

Mena ka pā mai te mate ngakau whānau kino i te Mate Noonan, me mahi pea he pokanga me te aroturuki tonu kia ora ai tō pēpi, kia haumaru ai hoki. Ka taea e tō tākuta te kōrero tahi me koe mō ngā kōwhiringa maimoatanga wawe tonu me te wā roa.

He mea noa te mataku ina whiwhi tātaritanga hauora te tamaiti hou, te tamaiti rānei e tipu haere ana. Heoi, he maha ngā tamariki kua tātaritatia ki te Mate Noonan he ngawari noa iho ō rātou tohu . Ā, ka ora tonu rātou i te oranga ora, ora tonu. Kōrero ki tō tākuta mō ngā maimoatanga whai hua, ngā kōwhiringa tiaki tonu rānei e hāngai ana ki ngā hiahia o tāu tamaiti. Mā te maimoatanga wawe ka āwhina i te whakaiti i tō manukanuka me te āwhina i tāu tamaiti ki te whakatutuki i ngā putanga hauora pai rawa atu.

Kia maumahara tātou ki ngā mea tino nui (Karere hei kawe ki te kāinga)

Āe, me whakarapopoto tātou i ngā kōrero tino nui o ngā mea kua kōrerohia e tātou:

• He mate ira te Noonan Syndrome.
• He rerekē ngā tohu o tēnei, ko ētahi he ngawari, ko ētahi he kaha ake.
• Ka kitea e koe ngā mea pēnei i ngā āhuatanga motuhake o te kanohi, te poto, me te mate ngakau.
• Ahakoa kāore he rongoā katoa, kei reira ngā maimoatanga whai hua hei whakahaere i ngā tohumate .
• He mea tino nui te tautuhi i te mate me te tīmata wawe i te maimoatanga .
• Mā tētahi rōpū tākuta motuhake tāu tamaiti e āwhina.
• He maha ngā tamariki e pangia ana e te mate Noonan Syndrome e ora harikoa ana, e ora kaha ana hoki .

Nō reira, ki te pāngia tō tamaiti e ēnei tohu, kaua e mataku, me toro atu ki te tākuta i te wā e taea ai, me te rapu tohutohu. Mā rātou koe e āwhina katoa e hiahiatia ana e koe.

Te mate Noonan, ngā mate ira, te mate manawa whānau, te whakaroa whanaketanga, ngā āhuatanga kanohi, te hauora o ngā tamariki, te whakamātautau ira