Kei te āwangawanga koe mō te teitei o tāu tamaiti? Me kōrero tātou mō te dwarfism (Dwarfism / Skeletal Dysplasia) me ētahi atu take o te poto o te tinana

He poto ake tāu tamaiti i ētahi atu tamariki? Ki tō whakaaro rānei he poto ake ōna peka me ōna waewae i te toenga o tōna tinana? I ētahi wā he mea noa ēnei. Heoi, i ētahi wā he tohu pea ēnei mō tētahi mate hauora. I tēnei rā ka kōrero tātou mō tēnei mate, arā, te dwarfism , i roto i ngā kupu hauora , te skeletal dysplasia, me ētahi atu take o te poto o te tinana. Kaua e manukanuka, he mea nui kia mōhio koe ki tēnei.

He aha te whakarōpūtanga o te tangata iti?

Ehara te Dwarfism, te mea e kīia nei ko te Skeletal Dysplasia , i te mate kotahi. He kupu hauora whānui tēnei e whakauru ana i ngā rau o ngā mate e pā ana ki te whanaketanga o ngā wheua me te kiriuhi. Ko te hua o ēnei mate ko te whakaiti i te roa o te tangata, te poto rānei o te tinana. I te nuinga o te wā, he iti iho i te 4 putu 10 inihi (1.47 mita) te teitei o te tangata kua pāngia e tēnei mate i te pakeketanga.

He pai ki ētahi tāngata te whakamahi i te kupu "iti" hei whakaahua i te hunga whai mate pēnei. Heoi, kāore i te tika te whakamahi i ngā kupu pēnei i te "ngā mokowā", nā te mea ka mamae pea ō rātou kare ā-roto.

He rerekē ngā momo o te whakawhāititanga o te tinana. Ka pā pea ēnei āhuatanga ki te tipu o ngā wheua i ngā wāhanga rerekē o te tinana, inā koa ko ngā ringa, ngā waewae, te puku, me te māhunga.

He aha ngā momo dysplasia angaanga e tino kitea ana?

E rau ngā momo o te whakawhāititanga o te wheua e pā ana ki te tipu o te wheua. Anei ētahi o aua momo:

• Te whakarōpūtanga o te Achondroplastic: Koinei te momo whakarōpūtanga tino noa. Ko ngā āhuatanga matua ko ngā waewae poto me te rae e kitea nuitia ana .
• Te ngoikore o te roro: He momo ngoikore ngāwari anō hoki tēnei o te ngoikore o te roro me ngā waewae poto. Heoi, kāore ōna tohu e tino kitea i te wā pēpi.
• Te ngoikore o te pituitary gland: Ka puta tēnei i te korenga o te homoni tipu .
• Te pūriki taketake: I tēnei momo, he iti te tinana mai i mua i te whānautanga me ngā wāhanga katoa o te ao.
• Te mate Thanatophoric dysplasia: He momo onge tēnei o te whakawhāititanga o te tinana, ā, he tino kino . I roto i tēnei āhuatanga, he poto rawa ngā peka, ā, he kuiti rawa te uma. Ko ngā pēpi me tēnei āhuatanga ka mate i roto i ngā rā torutoru i muri i te whānautanga mai i ngā raruraru manawa.

Whakaarohia pēnei: ​​he rite ngā wheua o roto i tō tātou tinana ki ngā pou e whakamahia ana hei hanga whare. Mēnā he panoni kei te tipu o ēnei pou, me te mea nei ka rerekē te āhua me te teitei o te whare katoa.

He aha te tikanga o te kupu "Te Roa Poto"?

Ko te kupu "poto" e pā ana ki te tangata he poto ake i te mea i whakaarohia ki te whakataurite ki ētahi atu o taua tau.Mō ngā tamariki nohinohi, tera pea ko te tikanga o tēnei kei raro iho i ngā pihi tipu noa tō rātou teitei, kei raro iho rānei i te teitei e tumanakohia ana i runga i te teitei o ō rātou mātua.

He maha ngā āhuatanga e whakatau ana i te roa o te tangata (te roa rānei mō te pēpi). Kei roto i ēnei ko te teitei o ngā mātua, tō rātou taumaha, me ngā taumata homoni. Ka taea hoki te whakapoto i te tinana e te maha o ngā āhuatanga ira.

Ko wai te mea tino pāngia e te whakarōpūtanga o te tangata?

Ka pāngia te tangata e te Skeletal Dysplasia. Ko ētahi momo he ira . Arā, ka taea te tuku iho i ngā mātua. Ko ētahi atu momo ka puta mai i ngā huringa DNA matapōkere. He maha ngā wā, engari kāore i te katoa, ka whānau mai ngā tamariki he iti te rahi o te tinana ki ngā mātua he teitei noa.

He pēhea te noa o tēnei āhuatanga?

He mate onge te Skeletal Dysplasia. Ko te momo tino noa, ko te achondroplasia, ka pā ki te kotahi i roto i te 15,000 ki te 40,000 tāngata.

He aha te pānga o te whakapōrearea i tō tinana?

Ka pāngia te tipu o ō wheua e te Skeletal Dysplasia. Ko ngā wheua roa i ō ringaringa me ō waewae te mea tino pāngia. Heoi, ka pāngia anō hoki ētahi atu wheua, tae atu ki ngā mea i roto i tō puku me tō māhunga. Ka pāngia pea ētahi atu wāhanga o tō tinana e ngā tohu o te dwarfism. Ka arahi atu hoki ki ngā raruraru hauora mō te wā roa, pērā i te ngoikore o te uaua , te maha rānei o ngā mate .

He aha ngā tohu o te whakarōpūtanga o te tangata?

Ko te tohu matua, me te tohu tino kitea o te dysplasia angaanga, ko te poto o te tinana. Ko te tangata e pāngia ana e tēnei mate, he iti iho i te 4 putu 10 inihi (1.47 mita) te roa i te pakeketanga. Ka kitea ake tēnei poto i te pakeketanga me ngā kaumātua i te tamarikitanga.

Ko te nuinga o ngā take o te poto o te tinana he mea taurite . Arā, he poto te tinana katoa, ehara i te mea kotahi anake te wāhanga. Heoi, i roto i ētahi momo āhua poto, he kore taurite tēnei poto. Arā, he rahi noa te tinana engari he poto ngā ringa me ngā waewae.

Ko ētahi atu tohu o te whakapōrearea o te tinana ko:

• Waewae piko.
• He piriti ihu papatahi (te wāhanga wheua kei te tihi o te ihu).
• Upoko nui.
• Rae pūangi.
• Ngā ringa me ngā waewae poto.
• Ngā maihao poto me ngā matimati.
• He whānui ngā ringa me ngā waewae.

I ētahi wā, ka puta mai ētahi atu raruraru hauora i te tipu rerekē o te wheua, hei tāpiri atu ki ēnei tohu. Hei tauira:

• Te kohikohinga o te wai huri noa i te roro (Hydrocephalus).
• Ngā io kua pēhia.
• Te korokoro.
• Ngā mate taringa, ngā raruraru whakarongo rānei.
• Mamae te turi me te pona waewae.
• Te mate moe.

He aha ngā pūtake o te whakarōpūtanga o te tangata?

He maha ngā take o te Skeletal Dysplasia. I te nuinga o te wā, ka puta mai i te huringa o te DNA o te tangata (whakarerekētanga ira) . Heoi, kāore anō kia mōhiotia te tino take o ētahi momo.

He maha ngā take matua:

• Hītori whānau: Mena he poto ngā mātua me ētahi atu mema o te whānau, he mea noa pea ka poto anō hoki te tamaiti.
• Ngā whakarerekētanga ira: Ngā huringa e puta ana i roto i te DNA o te tangata.
• Te korenga o te homoni tipu: Kāore e nui te homoni e whakaputaina ana e te roro e hiahiatia ana mō te tipu o te wheua.
• Te whakaroa o te tipu/te whakaroa o te whanaketanga tinana: Ka roa ake te tipu o ētahi tamariki i ō rātou hoa. I ētahi wā ka pāngia pea ētahi atu mema o te whānau e tēnei tauira tipu.
• Te kore kai tōtika: Ka pā kino pea te kore e whiwhi i te nui o ngā kai tōtika ki te tipu o te tamaiti.
• He iti mō te tau hapūtanga: Ko te nuinga o ngā pēpi he iti i te whānautanga ka eke ki te tipu noa i roto i ngā tau e rua ki te toru, engari tata ki te 10% kāore.

He take ira te whakapūpū?

Ae, ko ētahi momo whakapōrearea (nā te Skeletal Dysplasia) he ira tuku iho. Arā, nā te panoni o te DNA i puta ai. I te nuinga o te wā, he mea tupu noa iho tēnei whakarerekētanga ira, ehara i te mea i tukuna iho mai i ngā mātua poto. Arā, ko te nuinga o ngā tamariki he whakapōrearea he mātua teitei noa iho.

Heoi, ki te pāngia te tamaiti e te mate kōwhaiwhai, ka nui ake te tūponotanga ka riro i te tamaiti te mate. Kei te momo mate kōwhaiwhai. Hei tauira, ki te pāngia te whaea, te pāpā rānei e te achondroplasia, e 50% te tūponotanga ka riro i te tamaiti te mate. Ki te pāngia ngā mātua e te achondroplasia, e 25% te tūponotanga ka pāngia te tamaiti e te momo mate kōwhaiwhai kino e kiia nei ko te achondroplasia homozygous (ka whānau mate te tamaiti, ka mate rānei i muri tata i te whānautanga) me te 50% te tūponotanga ka pāngia e te achondroplasia noa.

Mena kei te whakaaro koe kia hapu, ā, e hiahia ana koe ki te mōhio ki te mōrearea o te pāngia o tāu tamaiti e tētahi mate tuku iho, pērā i te achondroplasia, i tētahi atu momo dwarfism rānei, kōrero ki tō tākuta mō ngā whakamātautau ira .

Me pēhea te mohio ki te dwarfism?

I ētahi wā, ka taea e ngā tākuta te kite i te dysplasia angaanga i mua i te whānautanga o te pēpi. I te wā e hapu ana, ka whakamahia e ngā tākuta ngā whakamātautau tirotiro i mua i te whānautanga hei kite i ngā āhuatanga rerekē o te whanaketanga o te pēpi.

I muri i te whānautanga o te pēpi, ka aroturukihia e te tākuta te tipu o te pēpi i ngā haerenga hauora ā-tau. Mēnā kāore e kitea te pēpi iti i te whānautanga, ki te ngaro i te pēpi ngā tohu tipu , he tohu pea tēnei mō te mate, ā, ka taea te tautuhi i muri mai. Mā ngā whakamātautau atu, pērā i ngā hihi-X me ngā whakamātautau toto, ka āwhina i te tākuta ki te rapu he aha te take kāore te pēpi e tipu i te tere noa. Koinei te huarahi e whakatauhia ai te mate.

He aha ngā maimoatanga mō te whakapōrearea o te kiri?

Nā te mea kāore he rongoā motuhake mō te dysplasia angaanga, ko te whāinga matua o te maimoatanga he whakahaere i ngā tohumate, he mea motuhake ki ia tangata, ki ia tangata, me te tautuhi i te mate.

Ko ngā maimoatanga pokanga hei whakahaere i ngā tohumate ka uru atu ki:

• He pokanga hei whakatika i te āhua o ngā wheua, o ngā wheua rānei e tipu rerekē ana.
• Te tango i te wai nui kua kohia huri noa i te roro (pokanga mō te hydrocephalus).
• He pokanga hei whakamama i te pēhanga ki te take roro (te wāhanga o te roro e hono ana ki te taurakira).
• He pokanga hei tango i ngā tonsils me/ranei ngā adenoids kia māmā ake ai te manawa.
• Te whakauru i ngā ngongo ki roto i te taringa hei ārai i ngā mate taringa.

Ko ētahi atu maimoatanga kore-pokanga ko:

• Te whakamahi i te mīhini CPAP (Continuous Positive Airway Pressure) hei rongoā mō te apnea moe .
• Te whakamahi i ngā taputapu whakarongo hei whakapai ake i te whakarongo.
• Whakatenatenahia ngā tikanga kai hauora me te whakakori tinana hei ārai i te taumaha rawa, te momona rānei (BMI 30, neke atu rānei).
• Te hoatu i te homoni tipu (whakaora homoni) hei rongoā mō te ngoikore o te homoni tipu.
• I te tau 2021, i whakaaetia e te Tari Kai me te Rongoā o Amerika te rongoā Vosoritide (Voxzogo®) hei whakamahi mā ngā tamariki neke atu i te 5 tau te pakeke e pāngia ana e te achondroplasia kāore anō kia kati ngā pereti tipu wheua (arā, kāore anō kia mutu te tipu). I roto i tētahi whakamātautau haumanu, i āwhina te rongoā Vosoritide i ngā tamariki kia tere ake te tipu.

Kia maumahara, tera pea ka hiahiatia ēnei maimoatanga mō te wā katoa o te oranga o te tangata, engari ka taea e rātou te whakapai ake i te kounga o te oranga o te tangata.

Me pēhea taku whakaiti i te mōrearea o taku tamaiti ki te whānautanga o te kōtiro?

Nā te mea he ira tuku iho ētahi momo dysplasia angaanga, kāore he huarahi hei ārai i tēnei mate mēnā kāore he tākuta e whakahaere i tētahi whakamātautau, pērā i te whakamātautau ira i mua i te whakatōnga . He pai ake te kōrero ki tō tākuta mō ngā whakamātautau ira kia kitea ai te mōrearea o tāu tamaiti ki tētahi mate ira pēnei i te dwarfism.

Kai mō te whanaketanga o te tamaitiHe mea tino nui tāu e kōrero nei. Ki te mea kei te hapu koe, kia tino kai koe i te kai taurite. Ahakoa kua whānau te pēpi, me hoatu e koe ki a ia he momo kai hauora e tika ana mō tōna pakeke, pērā i te pūmua, ngā hua rākau, ngā witi, me ngā huawhenua. Pērā ai, ka whiwhi ia i ngā matūkai katoa e hiahiatia ana e ia mō tōna tipu.

He aha ngā mea ka taea e koe te tumanako mēnā he tamaiti iti tōu?

Ahakoa kāore he rongoā motuhake mō te dysplasia angaanga, he maha ngā tāngata poto te roa e ora ana i te roanga o te oranga, ā, he pai te hauora me te maimoatanga hei whakahaere i ō rātou tohu. Heoi, ko ētahi o ngā tohu o tēnei mate ka uaua pea mō te tamaiti me te whānau, inā koa mēnā he maha ngā pokanga e hiahiatia ana mō te tipu wheua rerekē. Ka mahi tahi tō tākuta me koe me tō tamaiti ki te whakarato i te maimoatanga e hiahiatia ana e tō tamaiti kia ora ai ia i te oranga hauora me te kī tonu.

He aha te roanga o te oranga o te tangata he tangata pōturi?

I roto i te nuinga o ngā momo o te whakapōrearea, ka taea te tumanako kia noho noa te roa o te oranga mā te maimoatanga hei whakahaere i ngā tohu. Heoi, heoi anō, i roto i ētahi momo, ka taea te whakapoto i te roa o te oranga.

Me pēhea te tiaki i taku tamaiti he mate pukupuku wheua tōna?

Haunga te whakatutuki i ngā hiahia hauora o tāu tamaiti, ka taea e koe te tautoko i tāu tamaiti mā te mahi i ēnei mea e whai ake nei, te waihanga i tētahi taiao manaaki i te kāinga, e āhei ai rātou ki te whai wāhi ki ngā mea katoa:

• Te tango i ngā ārai tinana i te kāinga kia taea ai e te tamaiti te mahi takitahi (hei tauira, te noho tūru, te whakaheke i te pana rama).
• Te whakarato tautoko mātauranga, tautoko hinengaro hoki hei ārai, hei whakatau rānei i te tukino a ētahi atu tamariki i te kura.
• Me te hono atu hoki ki ngā whakahaere e āwhina ana i ngā tamariki ki te tautuhi i ō rātou mate.

Hei mātua, me atawhai tātou i ā tātou tamariki i runga i ō rātou tau, kaua i runga i tō rātou teitei. He mea tino nui tēnei.

He aha ngā pātai me pātai atu koe ki te tākuta?

Mena kei tō tamaiti tēnei mate, ka taea e koe te pātai atu ki te tākuta i ngā pātai penei:

• He mea tika kia pokanga hei rongoā i ngā tohumate o taku tamaiti?
• Me pēhea taku āwhina i taku tamaiti ki te ārai i ngā mate taringa?
• He pānga taha kei ngā maimoatanga e taunaki ana koe?
• Kia pēhea te roa e hiahiatia ana e taku tamaiti te tango i ngā homoni tipu?

Hei whakamutunga, ngā mea hei maumahara

Ahakoa kua tāpaetia tō tamaiti he Skeletal Dysplasia, ā, me pokanga, me rongoā rānei mō te wā roa hei whakahaere i ngā tohu, ehara i te mea kāore e taea e ia te ora i tētahi oranga whai tikanga, whai tikanga hoki. Hei mātua, hei kaitiaki rānei, me atawhai koe i tō tamaiti i runga i tōna tau, kaua i tōna teitei. Mā tēnei ka āwhina i tō tamaiti ki te hanga whakaaro nui ki a ia anō, me te rongo hoki kua manakohia, kua arohaina.

Mena he pakeke koe e pāngia ana e te mate wareware, mā te whai rōpū tautoko pai, te whakahaere i ō tohumate, me te noho i tētahi momo noho hauora ka āwhina i a koe kia ora i tētahi oranga hihiko, ora hoki.

`te whakarōpū, te mate wheua, te poto, te whakarōpū, te poto, te tupu o te wheua, ngā mate ira