Kei te āwangawanga koe mō te whanaketanga o tāu tamaiti? Me ako tātou mō te (Achondroplasia)!

Ki tō whakaaro he poto ake tāu tamaiti i ētahi atu tamariki? Kua kite rānei koe he poto ake ngā waewae o tāu tamaiti? He mea noa i ētahi wā te mataku ina kite koe i ēnei mea. I tēnei rā ka kōrero tātou mō tētahi mate ira e kiia nei ko te (Achondroplasia), e pā ana ki te tipu o ngā tamariki. He mea nui kia mōhio pai koe ki tēnei.

He aha te (Achondroplasia)? Kia mārama tātou!

Āe, me titiro tātou he aha tēnei (Achondroplasia). Whakaarohia, i te wā e noho ana te pēpi i roto i te kōpū, ko te nuinga o te wā ka hangaia te angaanga o te pēpi ki tētahi kiko ngohengohe e kiia nei ko te cartilage . Kātahi ka huri haere tēnei cartilage hei wheua kaha, arā, he wheua. Mō te (Achondroplasia), ko te mea ka tupu ko te kore e huri tika tēnei kiko cartilage i roto i ngā ringa me ngā waewae o tō pēpi hei wheua. He māmā noa iho, he raruraru iti kei roto i te tukanga hurihanga o te cartilage hei wheua.

He mate ira tēnei, he mate ira. Ko te nuinga o tēnei ka whakaiti i te roa o ngā ringa me ngā waewae o te tamaiti. Ina koa, ka poto ake te wāhanga o runga o ngā ringa (ngā ringaringa) me te wāhanga o runga o ngā waewae (ngā huha) i ngā wāhanga o raro o ngā peka kotahi. Ka karangatia tēnei e ngā tākuta ko te '(rhizomelic shortening)'. Koia mātou ka karanga ai i tēnei mate ko te 'short-leg dwarfism'.

He aha te rerekētanga i waenga i te (Achondroplasia) me te (Skeletal Dysplasia) (dwarfism)?

Kua rongo pea koe i te kupu (Skeletal Dysplasia). E kīia ana hoki e ētahi ko te "dwarfism." He maru nui te (Skeletal Dysplasia). E kapi ana i ngā rau o ngā āhuatanga rerekē e pā ana ki te whanaketanga o ngā wheua me te kiriuhi. Nō reira, ko te (Achondroplasia) tētahi o ngā momo (Skeletal Dysplasia) e tino kitea ana . I roto i te (Achondroplasia), ko te tipu o te wheua e aro nui ana ki ngā ringa me ngā waewae. Kua mārama koe?

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He āhuatanga tuku iho tēnei e kiia nei ko te "Achondroplasia"?

He raruraru tēnei e pā ana ki te tini o ngā mātua.

• Ko te rongo pai, i te nuinga o te wā (tata ki te 80%), kāore te 'Achondroplasia' i te tuku iho. Ahakoa ngā mātua he teitei noa, kāore hoki he raruraru kē atu, ka taea e rātou te whānau tamariki me tēnei mate. Nā te huringa hou o te ira o te tamaiti tēnei. Ka kiia tēnei e ngā tākuta he '(de novo mutation)'. Kāore pea ēnei mātua e whānau tamariki anō me tēnei mate.
• Heoi, ki te mea kei tētahi o ngā mātua te mate (Achondroplasia),' e 50% te tūponotanga ka riro i te tamaiti te mate. Ka kiia tēnei ko te tukunga iho (autosomal dominant). Ko te tikanga o tēnei ka pāngia te ira mate ahakoa ko tētahi anake o ngā mātua kei a ia.
• Mena he achondroplasia ngā mātua e rua, he uaua ake te āhua. Kātahi, e 25% te tūponotanga ka pāngia te tamaiti e tētahi mate kino ake e kiia nei ko te achondroplasia homozygous. Ka taea e tēnei mate kino te meinga te tamaiti kia whānau mate, kia mate rānei i muri tata i te whānautanga.

Ko te mea nui ko te rapu tohutohu ira mēnā he ruarua ōu mō tēnei mate. Pērā ai ka mōhio koe ki ngā taipitopito katoa.

E hia ngā tāngata e pāngia ana e tēnei mate (Achondroplasia)?

Ehara tēnei i te mate tino noa. I te nuinga o te wā, kotahi i roto i te 15,000 ki te kotahi i roto i te 40,000 tamariki i whānau puta noa i te ao ka pāngia e tēnei mate.

He aha te pānga o te (Achondroplasia) ki te tinana o te tamaiti?

Tērā pea ka ngoikore ngā uaua o ngā pēpi e pāngia ana e tēnei mate i te whānautanga. Ka whakaroa pea tēnei i te whanaketanga o ngā pūkenga nekeneke pērā i te ngokingoki, te noho, me te hikoi. He mea noa tēnei, engari he mea hei aroturuki.

Hei tāpiritanga, he nui ake te mōrearea o ēnei tamariki ki te pēhanga o te taurakira me te aukati i te manawa o runga i te wā e tamariki ana, ka ara ake pea tēnei i te maha o ngā raruraru hauora.

Ko ētahi atu mea e kitea whānuitia ana ko:

• Te uaua ki te manawa.
• Ngā mate taringa maha.
• He nui ake te tūponotanga ki te momona.

Nō reira, he mea tino nui kia tirotirohia ngā tamariki katoa e pāngia ana e te "(Achondroplasia)" i raro i te tirotiro tata a te tākuta. Mā reira anake ka taea te tautuhi wawe i ngā tohu pea, ka rongoāhia, ka āraihia rānei.

He aha te take o te (Achondroplasia)?

Ko te tino take o tēnei āhuatanga he whakarerekētanga ira . He '(kaiwhakawhiwhi)' motuhake tō tātou tinana e āwhina ana ki te huri i te kiriuhi hei wheua i te wā e whānau ana. Ko te whakarerekētanga ira i roto i te ira e kiia nei ko te '(FGFR3)' e whakahaere ana i tēnei '(kaiwhakawhiwhi)' te tino take o te '(Achondroplasia). Ki te kī ngāwari, kāore te tohu e huri ana i te kiriuhi hei wheua e tika ana te haere.

He aha ngā tohu o te (Achondroplasia)?

He maha ngā āhuatanga e kitea ana i roto i ngā tamariki e pāngia ana e tēnei mate:

• Te whakapoto i ngā wheua o ngā ringa me ngā waewae (ina koa ko ngā huha me ngā ringa o runga).
• He poto ake ngā ringa me ngā waewae i te mea noa.
• Tērā pea he āputa nui i waenganui i te maihao waenga (maihao tuatoru) me te maihao mowhiti (maihao tuawhā) (e mōhiotia ana ko te 'ringa trident').
• Ko te teitei mōrahi toharite i te wā pakeke he 4 putu (tata ki te 122 henimita) .
• He nui ake te upoko i te mea noa (macrocephaly).
• Ka pūwero whakamua te rae (‘frontal bossing’).
• He papatahi te pūtake o te ihu (‘midface hypoplasia).
• Ngā whakaroa whanaketanga o te tamarikitanga (hei tauira, ko te noho ake, te ngokingoki, te hikoi ka roa ake pea i ērā atu tamariki).

He aha ngā pānga roa o te (Achondroplasia)?

I te noho tahi me tēnei mate, tera pea ētahi pānga mō te wā roa. He mea nui kia mōhio koe ki ēnei:

• Te mamae o te tuara me te waewae.
• Ngā uauatanga o te manawa, inā koa ngā wā okioki i te wā e moe ana ('apnea').
• Te momonatanga.
• Ngā mate taringa maha.
• Te piko o te tuaiwi (te stenosis o te tuaiwi, te kyphosis rānei).
• Te piko o ngā waewae ki roto, ki waho rānei, pērā i te kopere ('bowed legs').
• I ētahi wā ka kohia he wai tāpiri huri noa i te roro (hydrocephalus).
• Te mate manawa e puta mai ana i te aukati i te ara manawa i te wā e moe ana (te mate manawa e puta mai ana i te aukati i te ara manawa i te wā e moe ana).

Ehara i te mea ka pā katoa ēnei mea ki te katoa, engari he mea nui kia mōhio ki ēnei mea, ā, me rapu tohutohu hauora mēnā e tika ana.

Kia pēhea te wawe o te kitenga i te achondroplasia?

He maha ngā wā, ka ara ake ngā whakapae mō te mate "(Achondroplasia)" mā te whakamahi i ngā matawai ultrasound i te wā e noho tonu ana te pēpi. Arā, ka whakapae ngā tākuta i tēnei mēnā, i te mutunga o te hāputanga, ka poto ake ngā waewae o te pēpi i te mea noa, ā, ka nui ake te māhunga. Heoi, i te nuinga o te wā, ka whakaūtia te mate e ngā whakamātautau i muri i te whānautanga o te pēpi.

Me pēhea te tātaritanga o te mate (Achondroplasia)?

He maha ngā whakamātautau e whakamahia ana e ngā tākuta hei tātaritanga i te achondroplasia:

• Whakamātautau tinana: Ka tirohia ngā āhuatanga tinana o te tamaiti (pēnei i te poto o ngā waewae, te nui o te upoko).
• Ngā hihi-X: Ka whakamahia ngā hihi-X hei tirotiro i te āhua me te whanaketanga o ngā wheua.
• Whakamātautau ira: Ka mahia tēnei whakamātautau hei whakaū mēnā he whakarerekētanga ira kei roto i te ira e kiia nei ko (FGFR3). Koinei te tikanga tino motuhake.
• Mena kei tētahi, kei ngā mātua tokorua rānei tēnei mate, ka taea hoki te kite mā roto i ngā whakamātautau motuhake e mahia ana i te wā e hapū ana (tataritanga i mua i te whānautanga).
• I ētahi wā, ka mahia pea he matawai MRI (whakaahua aukume) CT (tomography rorohiko) rānei hei tirotiro i ngā āhuatanga pēnei i te ngoikore o te uaua, te pēhanga rānei o te io tuaiwi.

He aha ngā maimoatanga mō te (Achondroplasia)?

Tae noa mai ki tēnei wā, kāore anō kia kitea he maimoatanga motuhake hei whakaora katoa i te mate (Achondroplasia). Ko te tikanga tēnei kāore e taea te whakakore i te huringa ira e puta ai tēnei mate. Heoi, ehara i te mea kāore e taea te mahi i tetahi mea.

Ko te whāinga matua o te maimoatanga he whakahaere i ngā tohu me ngā raruraru ka puta mai i tēnei mate, me te āwhina i te tamaiti kia ora hauora, kia noho whakamarie hoki i te oranga e taea ana.

Ka aroturukihia e ngā tākuta te tipu o te tamaiti mai i te tīmatanga mā te ine i tōna teitei, tōna taumaha, me tōna porowhita o te upoko.

He rongoā katoa kei te wātea mō te mate (Achondroplasia)?

E ai ki te kōrero i mua ake nei, kāore anō kia kitea he rongoā mō te achondroplasia i tēnei wā. Heoi, kaua tēnei e whakapōrearea i a koe. He maha ngā tāngata e pāngia ana e te achondroplasia ka taea e rātou te ora ora, ora hauora, me te harikoa.

Me pēhea te whakahaere i ngā tohu o te (Achondroplasia)?

Ko te whakahaere i ngā tohu te mea nui rawa atu i konei. Arā, me mōhio ki ngā raruraru pea, me te mahi i ngā mahi hei ārai i aua raruraru. Hei tauira:

• Te whakahaere taumaha: I te mea he raruraru pea te momona e pā mai ana me tēnei mate, he mea tino nui kia whakawhanakehia ngā tikanga kai hauora me te noho kaha.
• Pokanga:
• Mēnā ka kohia te wai i te roro (hydrocephalus), ka taea te mahi i tētahi pokanga e kiia nei ko te ventriculoperitoneal shunt hei whakaiti i te pēhanga.
• Tērā pea e tika ana te pokanga mēnā ka mōrearea te ora i te pēhanga io i te tihi o te kaki (craniocervical junction compression).
• Mena he maha ngā mate korokoro e pāngia ana e koe, me pokanga pea koe hei tango i ngā adenoids me ngā tonsils.
• Homoni tipu: Ka hoatu he rongoā homoni tipu ki ētahi tamariki. Ka āwhina pea tēnei ki te whakanui ake i te teitei ki tētahi taumata, engari kāore e rite ngā hua mō te katoa. Me kōrero koe ki tō tākuta mō tēnei.
• Mō ngā uauatanga manawa (apnea): Mena he uauatanga tō manawa i a koe e moe ana, ka tūtohutia pea kia whakamahia he mīhini e kiia nei ko te CPAP (Continuous Positive Airway Pressure).
• Mō ngā mate taringa: Mena he maha ngā mate taringa e pāngia ana e koe, ka tohua pea he rongoā mō ngā ngongo taringa, he rongoā paturopi rānei.
• Tautoko pāpori: He mea tino nui te whakarato ki te tamaiti te tautoko hinengaro e hiahiatia ana e ia kia taea ai e ia te noho tahi me te hapori me te noho pai ki ētahi atu.
• Rangahau: Kei te haere tonu ngā rangahau mō ngā rongoā hou ka taea te whakanui ake i te teitei.

Ka taea e au te whakaiti i te mōrearea o taku tamaiti ki te whakawhanake i te achondroplasia?

He maha ngā wā ka puta te Achondroplasia i tētahi whakarerekētanga ira hou, ā, kāore he huarahi hei ārai i ēnei momo whakarerekētanga. Arā, kāore e taea te whakahaere.

Heoi, ki te pāngia tētahi o ō mātua e te achondroplasia, he huarahi hei whakaiti i te tūponotanga o te tukunga iho o te mate ki tāu tamaiti. Ko tētahi tauira ko te tikanga e kiia nei ko te whakamātautau ira i mua i te whakatōnga (PGT). Kei roto i tēnei ko te hanga i tētahi kukune me te whakamātautau i ōna ira i mua i te whakatōnga ki roto i te kōpū o te whaea. Ka taea e koe te pātai atu ki tō kaiwhakarato OB/GYN, ki tētahi kaitohutohu ira rānei mō ētahi atu kōrero mō tēnei.

He aha te roanga o te oranga o te tangata e pāngia ana e te (Achondroplasia)?

He āwangawanga nui tēnei mō te tini o te tangata. He waimarie, he pai te roa o te oranga o te nuinga o te hunga whai achondroplasia. He pai anō hoki tō rātou mātauranga. Ahakoa he whakaroa pea te whanaketanga o te tamarikitanga, kāore tēnei e pā ki tō rātou mātauranga.

He pono ka pā mai ētahi raruraru hauora i te achondroplasia. Heoi, ki te whakahaeretia tika aua tohu, ka taea te ārai i ngā raruraru hauora nui i muri mai.

Me pēhea taku āwhina i taku tamaiti me te (Achondroplasia)?

Kei ngā tamariki kua kitea he achondroplasia te pūmanawa katoa ki te ora harikoa, hauora, me te whai hua. Ko ngā mea tino nui ka taea e koe hei mātua:

1. Te tiaki i ngā matea hauora o tāu tamaiti: He mea nui kia haria tāu tamaiti ki ngā tirotiro hauora i te wā tika, kia tukuna hoki te maimoatanga e tika ana.

2. Te waihanga i tētahi taiao aroha, manaaki hoki mō te tamaiti i te kāinga:

• Te whakaiti i ngā arai ā-tinana: Hangaia he huringa iti ki te taiao o te kāinga kia māmā ake ai te mahi a tāu tamaiti i ngā mahi o ia rā. Hei tauira, te whakatakoto i tētahi tūru i te taha o te totohu, o te wharepaku rānei, te whakatakoto rānei i ngā pana rama me ngā kakau tatau ki te taha o tāu tamaiti. Mā tēnei ka nui ake te mana motuhake o tāu tamaiti.
• Te whakarato tautoko hinengaro me te mātauranga: Tērā pea ka tukinotia te tamaiti e ētahi atu, ahakoa i te kura, i hea atu rānei. Āraia ēnei āhuatanga, hangaia te maia o te tamaiti, me te whakarato i te tautoko mātauranga e hiahiatia ana e ia.
• Te hono atu ki ngā rōpū hapori me ngā whakahaere mō te hunga whai mate pōuri: Ka taea e kōrua ko tāu tamaiti te tiki i te maha o ngā mōhiotanga, ngā wheako, me te tautoko mai i aua wāhi.

Āhea ahau me toro atu ki taku tākuta?

Ko te huarahi pai ki te ārai, ki te whakaiti rānei i ngā tohu maha e pā mai ana me te achondroplasia ko te haere ki ngā tirotiro hauora auau mai i te tamarikitanga.

Ki te kite koe i ēnei mea i roto i tāu tamaiti, me toro atu ki te tākuta tonu:

• Mena, i te wā o te tamarikitanga, kāore te teitei o te tamaiti e piki ake i runga i tōna pakeke , ki te kore rānei ia e eke ki ngā taumata ā-tinana pēnei i te noho, te ngokingoki, me te hikoi ('ngā whakaroa whanaketanga').
• Mena he uaua ki tāu tamaiti te manawa , he maha ngā mate taringa , he mamae te tuara me te waewae , ki te whakaaro rānei koe kei te mōrearea rātou ki te momona rawa .

Kia maumahara, he mea tino nui te whai tirohanga pai i a koe e tiaki ana i ngā raruraru hauora o tāu tamaiti. Mā te atawhai i tāu tamaiti i roto i te huarahi e tika ana mō tōna tau, me te kore e whakahāwea i a ia, e titiro rānei ki tōna teitei, ka nui te painga ki te hanga i tōna whakaaro nui ki a ia anō.

Hei whakamutunga, he karere hei kawe ki te kāinga

Ahakoa he mate ira te achondroplasia, ehara i te mea mōrearea ki te ora.

• He mea tino nui kia mōhio tika koe ki tēnei āhuatanga.
• He mea nui kia whakaratohia ki te tamaiti te maimoatanga hauora me te tautoko e tika ana.
• He maha ngā raruraru ka taea te ārai mā te tautuhi me te whakahaere i ngā tohu i te wā tōmua.
• Mā te waihanga i tētahi taiao aroha, tautoko, me te manaaki mō ngā tamariki i te kāinga me te hapori, ka taea e rātou te ora harikoa, te whai hua.
• Kia maumahara, ehara i te mea ko koe anake. Rapua he tautoko mai i ngā tākuta, i ngā kaiwhakatakoto whakaaro, me ngā mātua o ngā tamariki e pāngia ana e tēnei mate.

He mea noa te pōuri me te mataku ina rongo koe kua pāngia tāu tamaiti e te achondroplasia. Heoi, mā te mōhio me te tautoko tika, ka taea e kōrua ko tāu tamaiti te whakatere angitu i tēnei haerenga.