Hei whaea e hapu ana, ki tonu koe i te hiahia me te aroha ki ngā mea katoa e pā ana ki tāu pēpi, tika? Engari i ētahi wā, me aro tātou ki ngā kupu kāore anō kia rangona, ā, he ahua whakamataku pea. I tēnei rā, ka kōrero tātou mō tētahi mate onge engari he tino kino e kiia nei ko te "Thanatophoric Dysplasia". Ahakoa he ahua uaua te ingoa, kia māmā noa iho.
Baby's due date (EDD)
Calculate the due date based on the last menstrual period
He aha te Thanatophoric Dysplasia?
He whakarāpopototanga noa iho, ko te thanatophoric dysplasia he mate ira e pā ana ki te whanaketanga o ngā wheua me ngā pukahukahu o te pēpi. He maha ngā wā ka tīmata i te wā kei roto tonu te pēpi i te kōpū.
Nō te kupu Kariki tawhito te kupu "thanatophoric". Ko tōna tikanga he "kawe mai i te mate." He ahua whakamataku te ingoa. Ko te take he nui te tūponotanga o te mate o ngā pēpi i whānau mai me tēnei mate i mua i te whānautanga (whānau mate) i roto rānei i ngā rā torutoru i muri i te whānautanga nā te ngoikore o te manawa, nā te mea kāore anō ō rātou pukahukahu kia tino whanake.
Heoi, he tino onge te puta o ngā pūrongo mō ngā pēpi i whānau mai me tēnei mate ka ora tonu ki te tamarikitanga me te tiaki hauora nui, inā koa mō te ngoikore o te manawa. Ko tēnei ngoikore o te manawa ka puta mai i te korenga o te hāora e whiwhi ana te tinana o te pēpi, he nui rawa rānei te hauhā waro i roto.
He momo chondrodysplasia kei reira?
Ae, e rua ngā momo matua o tēnei mate e wehewehea ana i runga i ngā rerekētanga o te whanaketanga o ngā wheua:
- Momo 1: He poto rawa ngā waewae o ngā pēpi me tēnei momo, he kuiti rawa te uma, he āhua piko ngā huha , ā, he papatahi te tuaiwi (platyspondyly). I ētahi wā, ka tere rawa te hono o ngā wheua o te angaanga (craniosynostosis). He nui ake te kitea o tēnei momo i te momo 2. Whakaarohia he rite ki ngā ringaringa me ngā waewae iti o te tāre, engari kāore i te ōrite ki te toenga o te tinana.
- Momo 2: He poto rawa ngā waewae o tēnei momo pēpi, ā, he whaiti te uma . Heoi, he tika ngā wheua o te huha . Waihoki, nā te tere o te kati o ngā hononga o te angaanga, ka kitea ngā pupuhi i mua me ngā taha o te upoko. I ētahi wā ka kiia tēnei he "angaanga rau-kōwhai" nā tōna āhua.
Clinical vitamins and nutritional supplements
Clinically proven high quality vitamins, minerals and immune nutritional supplements.
Check Availability →He pēhea te noa o tēnei āhuatanga?
He tino onge te mate Thanatophoric dysplasia. E ai ki ngā tatauranga, tata ki te kotahi te pēpi i roto i te 20,000 whānautanga ka pāngia e tēnei mate. Ko te tikanga, ehara tēnei i te mea e kitea pinepinetia ana.
He aha ngā tohu o te dysplasia thanatophoric?
Nā te mea ka pā tēnei āhuatanga ki te whanaketanga o ngā pukahukahu, ngā wheua, me ngā hononga o te pēpi i roto i te kōpū, ka kitea pea ēnei tohu:
- Kāore ngā pūkahukahu e whanake tika ana: Nā te poto o ngā rara me te whaiti o te uma te take. He iti noa te wāhi e toe ana mō ngā pūkahukahu ki te pupuhi me te tipu tika.
- Ngā kopa kiri tāpiri i ngā ringa me ngā waewae.
- He upoko nui, he rae pūangi, he mata papatahi.
- He poto te tū (skeletal dysplasia) me te tino poto o ngā waewae (micromelia).
- Ngā kanohi whānui.
Ko te tino take o te mate o ngā pēpi i whānau mai me tēnei mate ko te ngoikore o te manawa, ka puta ina kore e whanake tika ngā pukahukahu. Nā tēnei ka uaua te manawa tika o te pēpi.
He tino onge, ka pā mai pea ētahi atu tohu ki ngā pēpi e ora ana i tua atu i te pēpitanga:
- Te tipu rerekē o ngā wheua.
- Ngā uauatanga manawa tonu.
- Te ngaronga o te rongo.
- Ngā āhuatanga pēnei i te mate haurangi (ngā mate hopuhopu).
He aha te take mō tēnei?
Ko te tino take o te dysplasia thalamophytic ko te whakarerekētanga ira i roto i te ira e kiia nei ko te 'FGFR3'. Ko tēnei ira 'FGFR3' te mea e tuku tohutohu ana mō te whanaketanga me te tiaki i ngā wheua i roto i te tinana o te pēpi. Whakaarohia he rite ki te pana rama i roto i tō tātou tinana. Ka 'kā' ina hiahiatia, ka 'weto' ina oti te mahi.
Engari ina puta he whakarerekētanga ira i roto i te ira FGFR3, he rite tonu ki te mea kua mau te pana rama ki te tūranga kā. Kātahi ka kaha rawa te mahi a ngā pūmua e whakahaeretia ana e tēnei ira. Nō reira, ka whakawhāitihia te tukanga whakakotahitanga, te tukanga e huri ai ngā wheua roa, te kiriuhi, hei wheua. He māmā noa iho, kāore ngā wheua e tika te hanganga.
Ko te nuinga o ngā take o te chondrodysplasia ka puta mai i tētahi whakarerekētanga ira hou e puta ana i roto i te pēpi. Ko te tikanga, kāore i te tuku iho i te whaea, i te pāpā rānei. I te nuinga o te wā, kāore tētahi o te whānau i pāngia e tēnei mate i mua. Heoi, he tino onge , ka taea e te tamaiti te tuku iho i tēnei whakarerekētanga ira mai i tētahi o ngā mātua. Ka kiia tēnei he tauira "autosomal dominant".
Ko wai ka pāngia e tēnei āhuatanga?
Ka taea e te mate Thanatophoric dysplasia te pā ki tētahi tamaiti. Nā te mea he maha ngā wā ka puta noa mai tēnei huringa ira. E ai ki te kōrero i mua ake nei, he tino onge te tuku iho mai i ngā mātua.
Ko te mea nui, ehara i te mea nā te whaea i mahi i te wā e hapu ana ēnei huringa ira. Nō reira, kaua e whakapae i a koe anō mō tēnei.
Me pēhea te tautuhi i te dysplasia thanatophoric?
I te nuinga o te wā ka kitea tēnei mate i te wā e noho tonu ana te pēpi i roto i te kōpū. I roto i ngā matawai ultrasound i te wā e hapu ana,Ka taea te tautuhi i tēnei mate. Ka tūtohu tō tākuta i ngā whakamātautau hei kite i ngā momo mate ira i te wā e hapu ana. I roto i ngā matawai, ka rapu ngā tākuta i ngā tohu pēnei i te pikinga o te nui o te wai amniotic e karapoti ana i te pēpi (polyhydramnios) me ngā āhuatanga rerekē o te whanaketanga wheua.
Ki te kitea he whakarerekētanga i roto i te ira FGFR3 whai muri i ētahi whakamātautau, ka mahi ngā tākuta i ngā mahi e tika ana hei karo i ngā raruraru ka pā mai i te wā e hapu ana.
I muri i te whānautanga o te pēpi, ka mahia pea he hihi-X o ngā wheua o te pēpi me te ultrasound o ngā whekau o roto, inā koa ko ngā pukahukahu , hei whakatau mēnā e hiahiatia ana he maimoatanga manawa.
He aha ngā momo whakamātautau e mahia ana mō tēnei?
I te wā e hapu ana, ka tūtohu pea tō tākuta i ēnei whakamātautau hei kimi i ngā āhuatanga ira:
- Amniocentesis: Ko te tango i tētahi tauira iti o te wai amniotic e karapoti ana i te pēpi i waenga i te 15 me te 20 wiki o te hapūtanga, ka whakamātautau hei kite i ngā āhuatanga hauora.
- Te Tātaritanga o ngā Villus Chorionic (CVS): I tēnei wā, i waenganui i te 10 me te 13 wiki o te hapūtanga, ka tangohia he tauira iti o ngā pūtau mai i te whenua whānau ka whakamatautauria mō ngā āhuatanga ira.
Me pēhea te rongoā i te dysplasia thanatophoric?
Ka tīmata tonu ngā pēpi e ora ana i muri i te whānautanga ki te maimoatanga hei tautoko i ō rātou pukahukahu kāore anō kia tino whanake . Mā tēnei ka pai ake te manawa o te pēpi. Kei roto pea i ēnei tautoko manawa:
- Te whakaurunga o tētahi ngongo ki roto i te puku o te manawa (tracheostomy).
- Te whakarato hāora tāpiri mā roto i ngā ihu (hei tauira, te mīhini 'Continuous Positive Airway Pressure' te mīhini 'CPAP' rānei).
- Te hoatu i ngā rongoā whakawhanui i te roro.
- Te whakamahi i tētahi mīhini (pūwero manawa) hei āwhina i te tuku hau ki ngā pukahukahu.
Hei tāpiritanga, ka whakamahia hoki te maimoatanga hei whakaora i ētahi atu tohu o te mate. Hei tauira:
- Te whakamahi i ngā taputapu whakarongo mō ngā ngoikoretanga o te whakarongo.
- Te whakarato rongoā ārai-hopu mō te mate haurangi.
- Mēnā e tika ana, ka taea te pokanga hei whakatika i ngā āhuatanga rerekē o te tipu o te wheua.
Ahakoa he maha ngā pēpi kua kitea he mate thanatophoric dysplasia kāore e ora, mā tō rōpū hauora koe e ako mō ngā rauemi me te tautoko e hiahiatia ana e koe me ō whanaunga hei whakatau i te pouri me te whakamarie e puta mai ana i tēnei tātaritanga. Ko te tohutohu pouri, te tohutohu pōuri rānei, he huarahi hei āwhina i a koe ki te whakatau i tēnei wheako kino me te whakahaere i tēnei wā uaua. Kei te wātea hoki ngā tohunga hauora hinengaro hei āwhina i a koe ki te whakatau i tō pouri.
He aha ngā mea ka taea e koe te tumanako mēnā kua tohua he pēpi e pāngia ana e te thanatophoric dysplasia?
Ina hoki, kāore i te tino pai te matapae mō ngā pēpi kua kitea he mate thanatophoric dysplasia. Ko te take matua mō tēnei he koretake te whanaketanga o ngā pukahukahu. He poto rawa te roa o te ora o te pēpi. Ko te nuinga o ngā pēpi ka mate i te whānautanga mate, i roto rānei i ngā wiki tuatahi o te whānautanga.
Ko ngā pēpi e ora ana i muri i te whānautanga me mātua tiaki nui hei tautoko i ō rātou pukahukahu, hei whakau hoki i ō rātou manawa. He maha ngā wā ka hiahiatia he āwhina o te mīhini manawa puta noa i te tamarikitanga.
He tino mamae, he tino uaua hoki te mate o te tamaiti. Ka pā nui tēnei ki tō hauora hinengaro me tō āhua kare ā-roto. He ratonga tautoko kei te wātea mō ngā mātua me ngā mema o te whānau e pouri ana hei āwhina i a rātou ki te whakatau i tēnei mate.
Me pēhea te whakaiti i te mōrearea o taku tamaiti ki te whakawhanake i te chondrodysplasia?
Nā te mea he maha ngā wā ka puta tēnei mate i tētahi whakarerekētanga ira hou e puta noa mai ana, kāore he huarahi hei ārai i te dysplasia thanatophoric. Mena kei te whakaaro koe kia hapu, kōrero ki tō tākuta mō ngā whakamātautau ira kia mārama ai koe ki te mōrearea o te whānau tamariki me te mate ira.
Me pēhea taku tiaki i a au anō mēnā he tamaiti tāku kua tākutatia he mate thanatophoric dysplasia?
He tino uaua, he tino mamae hoki te mōhio kei te pāngia tō pēpi e te chondroplasia. Mā tō rōpū hauora koe me ō whanaunga e āwhina ki te whakatau i tēnei wā uaua. Ka whakaratohia hoki e rātou he tiaki whai muri kia pai ai tō noho me tō whānau i muri i te matenga o tō pēpi.
Mena kei te pōuri koe, kei te manukanuka, kei te pouri, kei te kore tumanako rānei, ā, kei te uaua ki te aro atu ki te matenga o tētahi tamaiti, he mea nui kia waea atu koe ki tō tākuta. Ka taea e rātou te tuku i a koe ki tētahi tohunga hauora hinengaro, ki tētahi rōpū tautoko mō te hunga mate. I reira, ka taea e koe te whakapuaki i ō kare ā-roto ki ētahi atu kua pā ki ngā wheako rite. Mā te whai whatunga tautoko i tō taha ka āwhina i a koe ki te whakahaere i tō pouri.
Āhea koe me haere ki te rūma whawhati tata?
Mena he uaua ki te manawa tō pēpi i whānau mai me te thanatophoric dysplasia, he tere, he koretake rānei te pā o te ngakau , he kikorangi, he papura, he mā rānei te kiri i te taha o ngā ngutu, te waha, me ngā maihao , he tohu pea tēnei o te uaua o te manawa me te kore o te hāora. Waea atu ki te 911 (ki tō nama urupare ā-rohe rānei) tonu atu rānei, haere rānei ki te rūma urupare tata.
He aha ngā pātai me pātai atu e au ki taku tākuta?
- Ka taea e au te whiwhi whakamātautau ira mēnā kei te whakaaro ahau kia hapu?
- Ki te ngana ahau ki te whānau anō he tamaiti, tera pea ka pāngia taua tamaiti e te chondrodysplasia?
- He aha ngā rauemi ka taea e koe te tūtohu mai hei āwhina i ahau ki te whakatau i te pouri o te matenga o taku tamaiti?
Ahakoa ka whakapau kaha koe ki te whai i tētahi hāputanga hauora, ka taea e ngā huringa ira te arahi ki ngā raruraru morearea ki te ora, pērā i te thyrotoxicosis. I tēnei wā uaua, ka pōuri pea koe, ka riri, ka pōhēhē, ka kore e taea te āwhina, ka ngaro rānei. Nō reira, he mea tino nui kia noho he rōpū tautoko i tō taha. Tērā pea ka kitea e koe he whakamarie mā te kōrero ki tētahi tohunga hauora hinengaro, mā te whakauru atu rānei ki tētahi rōpū tautoko. Kei te rite tō rōpū hauora ki te whakautu i ō pātai katoa, me te āwhina i a koe ki te whakatau i tēnei mate.
Ngā mea tino nui hei maumahara (Karere hei kawe ki te kāinga)
He tino uaua, he onge, he uaua hoki te whakatau i te mate Thanatophoric dysplasia mā ngā mātua. Ka tino pōhēhē, ka whakamataku hoki te ako mō tēnei mate.
Ko te mea nui ko te mōhio kāore koe i te mokemoke. Kei reira ngā tākuta, ngā nēhi, ngā kaiwhakatakoto whakaaro, tae atu ki tō whānau me ō hoa hei tautoko i a koe i tēnei wā.
- He maha ngā wā ka puta tēnei mate i tētahi whakarerekētanga ira tūpono. Ko te tikanga ehara i te mea nāu te he.
- He whakamātautau kei mua i te whānautanga hei kite i tēnei mate i te wā e hapu ana.
- Ko te kaupapa matua o te maimoatanga he tautoko i te manawa o te pēpi me te whakahaere i ngā tohumate.
- He mea tino nui te rapu tohutohu mō te pouri me te tautoko hauora hinengaro ina pāngia ana koe e tētahi mate pēnei.
Ko te tumanako kua āwhina ēnei mōhiohio i a koe ki te mārama ki tēnei āhuatanga uaua. Mēnā he pātai anō āu, kaua e mangere ki te kōrero ki tō tākuta.
No comments yet. Be the first to share your question or experience below.