Kei te raru tō pēpi i ōna wheua me ōna hononga? - Me ako tātou mō te Spondyloepiphyseal Dysplasia Congenita (SEDC)

I kōrero mai te tākuta ki a koe he iti noa ngā huringa o ngā wheua me ngā hononga o tāu tamaiti i tōna whānautanga? Kua kite rānei koe he poto ake tāu tamaiti i ētahi atu tamariki, he rerekē rānei te āhua o tana haere? Tērā pea he raruraru tirohanga. He mea noa te mataku ina rongo koe i ēnei mea. Kaua e manukanuka. I tēnei rā ka kōrero tātou mō tētahi āhuatanga ira tino onge ka puta ai ēnei tohu, e kiia nei ko te Spondyloepiphyseal Dysplasia Congenita, ko te SEDC rānei te whakarapopototanga.

He aha te momo āhuatanga o tēnei SEDC?

He kupu ngāwari noa iho, he mate ira tino onge te SEDC. Ka pā ki te whanaketanga o ngā wheua, ngā hononga, me ngā kanohi o tō pēpi. Ko te mea nui ko te tīmatanga o ēnei pānga i roto i te kōpū, ā, ka kitea ngā tohu i te whānautanga . Koia i huaina ai ko "congenita," ko tōna tikanga "mai i te whānautanga."

Ko ngā tamariki whai SEDC e whakaatu ana i ēnei e whai ake nei:

• Ngā hononga hē o te tuaiwi, ngā hononga hope, me ngā hononga turi.
• Ko te dysplasia angaiwi he āhuatanga e pā ana ki te whanaketanga whānui o te tamaiti.
• He poto ake i te teitei toharite , inā koa ki te tinana, te kaki, me ngā peka.
• Ngā ngoikoretanga o te tirohanga me te whakarongo .

He maha atu anō ngā ingoa mō tēnei āhuatanga, hei tauira:

• Te whānautanga SED (te whānautanga SED)
• SED, momo whānautanga
• SEDc
• Te dysplasia spondyloepiphyseal, momo whānau

He tino noa tēnei, ā, kotahi anake i roto i te 100,000 whānautanga ora ka pāngia . He tino onge tēnei. E 175 noa iho ngā kēhi kua pūrongohia puta noa i te ao i tēnei wā.

He aha te rerekētanga i waenga i te SEDC me te SEDT?

Pērā i te SEDC, tētahi atu mate e kiia nei ko te Spondyloepiphyseal Dysplasia Tarda (SEDT) . Ahakoa he rite te tangi o ēnei e rua, he iti noa ngā rerekētanga.

Ko te tikanga o "Congenita" ko "i te whānautanga", ko te tikanga o "Tarda" ko "kua whakaroa". Arā:

• Ko ngā tohu o te SEDT ka puta i waenga i te 6 me te 8 tau te pakeke. Heoi, ka kitea te SEDC i te whānautanga.
• Ko ngā tama anake ka pāngia e te SEDT, engari ka taea e te SEDC te pā ōrite ki ngā tama me ngā kōtiro.
• Ko te hunga whai SEDC kei te mōrearea ki te wetewete o te retina, engari he iti ake tēnei mōrearea i te nuinga o te wā i roto i te SEDT.

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He aha te take i whakatūria ai a SEDC?

Ko te tino take o te SEDC he whakarerekētanga ira i roto i te ira COL2A1 . Ko tēnei ira COL2A1 te kawenga mō te whakaputanga o te collagen Momo II i roto i tō tātou tinana.Ka āwhina i te hanga i tētahi pūmua e kiia nei ko te collagen. He mea nui te collagen mō te hanga i ngā kiko honohono i roto i tō tātou tinana. Koinei te mea e homai ana te kaha me te āhua ki ō tātou kiko.

Ko te momo collagen II e kitea nuitia ana i roto i te kiriuhi me te matū e kiia nei ko te vitreous . He kiko honohono kaha engari ngāwari te kiriuhi e kitea ana i ngā wāhi pēnei i ō tātou hononga me ngā taringa. Ko te vitreous he matū rite ki te tiēre e kitea ana i roto i ō tātou karu kanohi. Nō reira, ki te kore e tika te hanga o tēnei collagen, ka taea e koe te whakaaro me pēhea te pānga ki ngā wāhi pēnei i ō tātou wheua, hononga, me ngā kanohi.

I te nuinga o te wā, ka puta te SEDC i tētahi whakarerekētanga ira hou (whakarerekētanga de novo) . Ko te tikanga tēnei kāore anō kia pāngia tētahi o te whānau e te mate i mua. Ka puta te "whakarerekētanga de novo" ina honoa te parāoa me te hua manu. Ka pā ki taua tamaiti anake, kāore ki ngā tuākana/teina o taua tamaiti.

Heoi, i ētahi wā ka taea te tuku iho i tēnei whakarerekētanga ira 'COL2A1' mai i tētahi o ngā mātua.

He aha ngā tohu o te SEDC?

Ka rerekē rawa ngā tohu o te SEDC i ia tangata, i ia tangata . Tērā pea he nui ake ngā tohu o ētahi tāngata, ko ētahi he iti iho.

Ko ngā āhuatanga ā-tinana matua ka kitea:

• He poto ake te tinana, te kaki, me ngā peka i ētahi atu.
• He poto , i waenga i te 3 me te 4 putu (0.91 - 1.2 mita) te teitei ina pakeke.
• He uma whānui, āhua rite ki te kāho . Tērā pea ka puta te wheua uma, ngā rara rānei.
• Waewae karapu . Heoi, he noa pea te rahi me te āhua o ngā ringa me ngā waewae.
• Ngā momo piko o te tuaiwi . Hei tauira, tera pea ētahi āhuatanga pēnei i te piko taha (Scoliosis), te piko whakamuri (Kyphosis), te piko whakamua (Lordosis), te whakakotahitanga rānei o ēnei.
• Ko ētahi huringa o te mata , pērā i te whānui o ngā kanohi, te papatahi o ngā paparinga, te ngatata rānei o te waha .
• Ka papatahi, ka kore rānei e pumau ngā tuaiwi o te tuaiwi .
• Te hurihanga o roto o ngā hononga o te hope, o te turi rānei.

Tērā anō ngā pānga taha ka puta mai i ēnei raruraru tipu:

• Te mate rumatiki .
• Te uaua ki te hikoi me te neke .
• Te ngaronga o te rongo .
• Te pakari o ngā hononga, te mamae, me te nekenekehanga o ngā hononga .
• Ko te Sciatica he mate e mamae ai te tuara o raro, te papa, me te tuara o ngā waewae nā te pēhanga o te io.
• Te uaua ki te manawa nā te mea he raruraru ki te whanaketanga o te uma, o ngā rara rānei.
• Ngā raruraru tirohanga , inā koa te tirohanga tata kino me te wehenga o te retina .
• I a koe e hikoi anaTe hikoi whakakorikori, te roa rānei o te wā ki te ako i te hikoi.
• Te ngoikore o te uaua (Hypotonia) .

He mea nui, ko te hunga whai SEDC he pai te whanaketanga hinengaro. Ko te tikanga o tēnei, kāore e kitea ngā ngoikoretanga ako. Heoi, ko ngā taumata whanaketanga tinana pēnei i te noho me te hikoi, kāore pea e tutuki i te tau e tika ana.

Me pēhea te tautuhi i te tūnga o te SEDC?

Ka taea e te tākuta te tautuhi i te SEDC mā te āta tirotiro i ngā tohu ā-tinana o te tamaiti me ngā hua o ngā whakamātautau e whai ake nei:

• Whakamātautau ira - Mā tēnei ka taea te whakatau tika mēnā he whakarerekētanga ira kei roto i te ira 'COL2A1'.
• Ngā hihi-X o te angaanga katoa.
• Ko ētahi atu whakamātautau whakaahua, pērā i ngā matawai CT (matawai Tomography Rorohiko) me te MRI (Whakaahua Resonance Magnetic) .

He rongoā kei te wātea mō te SEDC? Ka taea te whakaora?

Engari, kāore anō kia kitea he rongoā mō te SEDC . Kaua e manukanuka. Anei ētahi mea ka taea e koe te tumanako mai i te maimoatanga:

• Te whakahaere me te whakaiti i ō tohumate .
• Ki te taea, whakatikahia ngā hapa o te angaanga mā te pokanga .
• Te ārai i ngā raruraru pēnei i ngā whara me te ngaronga o te tirohanga.
• Te whakapai ake i tō kaha me tō nekehanga .

He aha ngā maimoatanga e wātea ana mō te SEDC?

He rerekē ngā kōwhiringa maimoatanga e tukuna ana i ia tangata, i ia tangata , i runga i ngā raruraru motuhake kei a koe me te kaha o aua raruraru.

Me tirotirohia tonutia koe e ngā tākuta . Mā tēnei, mēnā ka puta he raruraru, ka taea te tautuhi me te rongoā wawe. Tērā pea kei roto i tō rōpū hauora ētahi tohunga pēnei i:

• Ngā kaitohutohu ira
• Ngā Tākuta Kanohi - Ko te hunga e rongoā ana i ngā mate o ngā kanohi.
• Ngā taote pokanga wheua - ngā tohunga ki ngā pokanga wheua me ngā hononga .
• Ngā kaiwhakaora tinana - ngā tāngata e āwhina ana ki te whakapakari i te kaha, te nekehanga, me te hikoi.
• Ngā Tākuta Rheumatologist - Ngā tākuta e rongoā ana i ngā mate wheua, uaua, me ngā hononga, pērā i te rumatiki.

Koinei ngā wawaotanga ka taea:

• Ngā taputapu āwhina hei āwhina i te nekenekehanga, pērā i ngā tautoko waewae.
• Ngā mōhiti hei whakatika i te ngoikore o te tirohanga.
• Ngā rongoā hei whakaiti i te mamae o ngā hononga.
• Te whakaora tinana .
• Te pokanga hei whakatika i ngā āhua hē o te tuaiwi.
• Ētahi atu raruraru hononga, hei tauira, te pokanga whakakapinga hononga .
• Te pokanga hei whakatika i te wehenga o te retina.
• Te maimoatanga hei whakangāwari i te manawa.

Ka pēhea rā te āhua o te oranga ki a SEDC?

He rerekē rawa te oranga me te SEDC i ia tangata , i runga i ngā tohu me tōna kaha.

Ka pā kino tēnei āhuatanga ki tō nekehanga me tō kaha ki te mahi i ngā mahi ā-tinana. He tokomaha te hunga e hiahia ana ki te maimoatanga hauora me te pokanga mō te wā roa.

Engari, ko te mea pai rawa atu , he pai te whanaketanga hinengaro o te hunga whai SEDC, ā, ka taea e rātou te ora i te roanga o te oranga .

He ara anō hei ārai i te SEDC?

Engari, kāore he huarahi hei ārai i te SEDC nā te mea he ira tuku iho. Mā te mōhio kei ētahi whānau he whakarerekētanga ira COL2A1 ka whakaaroaro pea rātou mō te whānau tamariki, mō te rapu tohutohu ira rānei.

Me pēhea koe e tiaki ai i tētahi tangata whai SEDC (ko koe, ko tāu tamaiti rānei)?

Mena kei a koe, kei tāu tamaiti rānei te SEDC, he mea nui kia whai i ēnei tohutohu hei whakahaere i te mate:

• Tirohia ō tākuta i ngā rā kua whakaritea, haere ki ngā whakamātautau katoa me ngā wā tirotiro whai muri mai .
• Me karo i ngā hākinakina pā atu ki te tinana , inā koa ngā mahi ka whara ai te upoko me te kaki, nā te mea he kore pumau ngā hononga, ā, ka ngawari hoki te whara.
• Kia tino tupato i te wā e whiwhi ana koe i te rongoā whakamoe . Kōrerotia ki ō tākuta katoa kei a koe te SEDC, nā te mea ka pā mai ētahi raruraru i te wā e pokanga ana i ētahi o ō āhuatanga tinana.
• Ngāna ki te kimi i tētahi kaiārahi, ki te whakauru atu rānei ki tētahi rōpū tautoko hei āwhina i a koe ki te whakatau i tēnei āhuatanga. Mā tēnei koe e ako mai i ngā wheako o ētahi atu, ā, ka āwhina i a koe kia mōhio kāore koe i te mokemoke.

He aha atu anō tāu e hiahia ana ki te pātai atu ki tō tākuta mō te SEDC?

Mena kua tāpaetia koe, tāu tamaiti rānei kei te pāngia e te SEDC, he mea pai kia pātai atu koe ki ō tākuta i ēnei pātai:

• He aha ngā wāhanga o tōku tinana ka pāngia e te SEDC ?
• Ko ēhea ngā tohunga me toro atu ahau?
• Kia pēhea te auau o taku haerenga mai mō ngā whakamātautau me ngā whakaritenga whai muri ?
• He aha ngā maimoatanga e hiahiatia ana e au ?
• He haumaru te rongoā whakangote mōku ?
• Ka taea e aku tamariki te tuku iho i tēnei mate ?
• Me whakamātautau ira anō hoki ētahi atu o tō tātou whānau ?
• E mōhio ana koe ki ētahi rōpū tautoko hei āwhina i a koe ki te whakatau i tēnei āhuatanga?

He mea noa te mataku me te manukanuka ina rongo koe he mate ira tō tāu tamaiti e hiahia ana kia rongoatia. Engari kia mahara, kei reira tō tīma hauora hei āwhina i a koe. Mā roto i a rātou, ka kitea hoki e koe ngā rōpū tautoko hei whakapuaki i ō wheako ki ētahi atu he mate ira onge tēnei.

Ngā mea tino nui hei maumahara

Āe, mai i ngā kōrero kua kōrerotia e tātou mō te SEDC, koinei ngā mea tino nui hei maumahara māu:

• He tino onge te mate ira whānau mai o te SEDC.
• Ka pā te nuinga o tēnei ki ngā wheua, ki ngā hononga, ā, i ētahi wā ki ngā kanohi .
• Ahakoa kāore he rongoā katoa mō tēnei, he maha ngā maimoatanga e wātea ana hei whakahaere i ngā tohu me te whakapai ake i te kounga o te oranga .
• He mea noa te whanaketanga hinengaro , ā, e tika ana kia roa te roa o te oranga.
• Ka taea te whakahaere pai mā te tirotiro tika a te taote, te whakaora tinana, ā, mēnā e tika ana, te pokanga .
• Kāore koe i te mokemoke. Ka taea e koe te tiki āwhina mai i ngā tākuta me ngā rōpū tautoko .

Ko tāku tumanako ka whai hua ēnei mōhiohio ki a koe. Mēnā he pātai āu, kaua e mangere ki te pātai atu ki tō tākuta.