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.

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.

` spondyloepiphyseal dysplasia congenita, SEDC, ngā mate ira, te whanaketanga o te wheua, ngā raruraru hononga, te poto o te tinana, te collagen, te ira COL2A1