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?

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.

` Achondroplasia, te whakawhāititanga, te dysplasia angaanga, ngā mate ira, te whanaketanga o te wheua, te ira FGFR3, te whanaketanga o te tamaiti, te hypotonia, te hydrocephalus, te apnea moe