He mate onge tāu e pā ana ki te 'mea mā' o tō roro? Me kōrero tātou mō te Leukodystrophy!

Kua rongo kē koe i te kupu 'Leukodystrophy'? Tērā pea he ahua rerekē, he uaua hoki ki te whakapuaki, tika? Engari he kōrero tēnei mō tētahi mate onge e pā ana ki tō tātou pūnaha io, inā koa te roro me te taurakira, engari he mea tino nui kia mōhio tātou katoa. I ētahi wā ka tino āwangawanga tātou mēnā ka pāngia tētahi e tata ana ki a tātou, he tamaiti nohinohi, e tēnei mate. Nō reira, me kōrero noa tātou mō tēnei i tēnei rā, i roto i tētahi huarahi e mārama ai koe.

He aha tēnei leukodystrophy?

He whakarāpopototanga noa iho, ko te leukodystrophy he rōpū mate pūnaha io onge. Ko ngā io i roto i tō tātou roro me te taurakira (he rite ki ngā waea hiko) e karapotia ana e te hipoki tiaki, ārai e kiia nei ko te myelin . Ka āwhina tēnei myelin i ngā karere io kia tere, kia maeneene hoki. Ka tapaina hoki tēnei paparanga myelin e ngā tākuta ko te mea mā.

Whakaarohia pēnei, he rite te myelin ki te takai kirihou e karapoti ana i te waea hiko. Mēnā ka pakaru taua takai, kāore te hiko e rere tika, ā, ka puta he 'poto poto'. Waihoki, ina pakaru tēnei takai tiaki e kiia nei ko te myelin, ina kore rānei e tika te hanga, kāore e taea e ō tātou pūtau io te kōrero tika tetahi ki tetahi. Kāore e tika te haere o ngā karere. Ko te mea e tupu ana i roto i te leukodystrophy ko te pakaru tonu o tēnei myelin. Ka puta he ngaronga āta haere (āta haere) o te mahi i roto i te pūnaha io. Ka pakaru te kōrero i waenga i te roro me te toenga o te tinana.

He pēhea te noa o tēnei āhuatanga?

Ina hoki, ehara te leukodystrophy i te mate tino noa. He tino onge ngā momo leukodystrophy katoa. Hei tauira, i te Hononga o Amerika me Kanata, ko ngā momo leukodystrophy katoa ka pā ki te kotahi i roto i te 6,000 me te kotahi i roto i te 100,000 whānautanga ora. I ngā whenua Āhia, e kīia ana ko te auau he iti iho i te toru i roto i te 100,000 whānautanga ora.

He aha ngā tohu o te leukodystrophy?

Koinei te mea tino uaua. Nā te mea ka rerekē rawa ngā tohu o te leukodystrophy. Ka rerekē anō hoki ngā tohu i runga i te momo mate. Heoi, i roto i te nuinga o ngā momo leukodystrophy, ka heke haere te mahi a te pūnaha io . Ka puta he momo tohu. Ehara i te katoa ka pāngia e ngā tohu katoa.

I te nuinga o te wā, ka pā pea ēnei āhuatanga ki ngā mea pēnei i:

• Taurite i te wā e hikoi ana: Te kore e taea te hikoi tika, te hinga pinepine.
• Kaha: Te āhua nei kua ngoikore ō waewae me ō waewae, he uaua ki te hiki, ki te pupuri rānei i ngā mea.
• Te Mātauranga: He uaua ki te ako, ki te maumahara, me te arotahi.
• Te kai me te horomi: Te uaua ki te horomi kai, te kōroke pinepine.
• Te rongonga: Te ngaronga o te rongonga.
• Te nekehanga me te taunga o ngā waewae: Te kore e taea te whakahaere tika i ngā waewae, te uaua ki te mahi i ngā mahi i runga i te tikanga tika.
• Kōrero: Te koretake o te kōrero, te kore e taea te whakapuaki tika i ngā kupu, te ngaromanga haere rānei o te kaha ki te kōrero.
• Tirohanga: Te ngoikore o te tirohanga, i ētahi wā ka ngaro katoa te tirohanga.

Whakaarohia, ki te mea he tamaiti nohinohi koe, tera pea ka puhoi ake te whanaketanga o tāu tamaiti i ētahi atu tamariki. Tērā pea ka puhoi ake rātou ki te ako i ngā mea hou, ki te tākaro, ki te kōrero. Ka puta katoa ēnei mea nā te mea kua pakaru te myelin, ā, kāore ngā karere mai i te roro ki te tinana e haere tika ana.

He maha ngā momo matua o te leukodystrophy

Neke atu i te 50 ngā momo leukodystrophy kua tautuhia e ngā kairangahau. Ā, kei te kitea tonutia e rātou ngā momo hou. He rerekē ngā whakarerekētanga ira o ia momo leukodystrophy. Arā, he panoni i roto i ngā ira o tō tātou tinana. Waihoki, he rerekē ngā tohu o ia momo. He rerekē hoki te pakeke o te tīmatanga o ngā tohu i ia momo, i ia momo.

Me titiro tātou ki ētahi tauira. Nā te mea ka roa rawa te whakaahua i ēnei momo katoa, ka kōrerohia e tātou ētahi o ngā mea matua.

• Te Adrenoleukodystrophy (ALD): Ka pā tēnei ki te mea mā o te roro me te taurakira, tae atu ki ngā repe adrenal, e whakahaere ana i ā tātou homoni. Ka tīmata ngā tohu i te tamarikitanga, i te tīmatanga rānei o te pakeketanga. Tērā pea ka kite koe i ngā mea pēnei i ngā uauatanga ako, ngā panonitanga o te tirohanga, te whakarongo rānei, te uaua ki te hikoi, te ngenge, me te ngaronga taumaha.

• Te mate pūkahukahu autosomal-dominant o te pakeke (ADLD): Ka puta tēnei i te nuinga o te wā i roto i te hunga kei roto i ō rātou tau 40, 50 rānei. Ka puta he raruraru ki te kaha, ki te nekehanga, me te hinengaro. Ka pā hoki ki ngā mea pēnei i te toto toto me te tere o te manawa .

• Mate a Alexander: Ka pāngia ngā tamariki e te whakaroa whanaketanga, te haurangi, me te uaua ki te hikoi. He maha ngā wā ka pāngia ngā pēpi hou, ngā tamariki nohinohi rānei. Heoi, tera ētahi momo mate a Alexander ka puta ai ngā tohu i roto i ngā pakeke.

• Te mate Canavan:I tēnei āhuatanga, ka whakaroahia hoki te tipu o te tamaiti, ka ngoikore te tinana, ka uaua ki te horomi kai, ka puta ngā mate haurangi, ka noho pōrearea tonu te tamaiti, ā, ka puta pea ngā panoni o te tirohanga. I te nuinga o te wā ka puta ngā tohu i te wā pēpi. Heoi, tera ētahi momo mate kuri ka puta ngā tohu i muri mai.

• Mate Krabbe: E kiia ana hoki ko te globoid cell leukodystrophy . He maha ngā wā ka tīmata ngā tohu i te wā pēpi. Kei roto i ēnei ko te ngoikore, te uaua ki te whāngai ū, te kore e marino, te whakaroa i te tipu, te neuropathy ( te ngoikore me te ngau o ngā peka), me ngā mate hopuhopu. I ētahi wā ka puta ake ngā tohu i muri mai i te oranga.

• Te mate toto totoka: Ka pā tēnei ki ngā pēpi, ki ngā tamariki nohinohi, ki ngā pakeke rānei. Ka pāngia pea e ngā huringa o ngā pūkenga whakaaro, ngā whanonga, te tirohanga, te whakarongo rānei, ngā mate hopuhopu, te mate wareware (te ngaronga katoa o te mahara), me te matapo.

He maha atu anō ngā momo, pērā i te Cerebrotendinous xanthomatosis (CTX) , te ataxia o te tamarikitanga me te hypomyelination o te pūnaha io matua (CACH) (e kiia ana hoki ko te mate ngaro ma (VWM) ), te mate Pelizaeus-Merzbacher (PMD) (e pā ana ki ngā tama tāne), me te mate Refsum .

He aha te take ka puta ai te leukodystrophy?

Ko te take matua mō tēnei ko ngā whakarerekētanga ira. Arā, ko ngā huringa o te DNA i roto i ō tātou tinana. Ka puta ēnei huringa i roto i ngā ira e tohutohu ana i te hanganga o tēnei hipoki tiaki e kiia nei ko te myelin, arā, me pēhea tana mahi tika. Ki te kore tēnei hipoki tiaki, kāore e taea e ngā pūtau io te mahi tika.

Ka taea te tuku iho i ēnei whakarerekētanga ira i ētahi wā mai i ngā mātua ki ā rātou tamariki. Arā, ka taea te tuku iho i roto i ngā whakatipuranga. Heoi, i ētahi wā ka puta noa mai ēnei whakarerekētanga ira i te tipu me te wehewehe o ngā pūtau.

He mea nui, tera pea ētahi tāngata he whakarerekētanga ira e puta ai te leukodystrophy engari kāore e pāngia e te mate. Ka kiia rātou he kawe ira. Heoi, ka taea e ēnei kawe te tuku i te whakarerekētanga ira ki ā rātou tamariki. Mena he kawe koe i te whakarerekētanga ira e puta ai te leukodystrophy, me whakaaro pea koe ki te tohutohu ira . Ka tirohia e te kaitohutohu ira tō hītori whānau, ā, ka āwhina i a koe ki te whakatau i tō tupono ki te tuku i te whakarerekētanga ira ki āu tamariki.

He āhuatanga mōrearea kei reira e pā ana ki tēnei?

Ina hoki, kāore he āhuatanga mōrearea motuhake hei ārai i te mate toto toto. Nā te mea he ira tūturu tēnei. Heoi, kua kitea he nui ake te tūponotanga o ētahi iwi ki te whakawhanake i ētahi momo mate toto toto. He rite tonu te pānga o te nuinga o ngā momo mate toto toto ki ngā ira e rua. Heoi, ko ētahi momo, pērā i te mate Pelizaeus-Merzbacher (PMD), ka pā ki ngā tama tāne.

Me pēhea te tautuhi i te leukodystrophy?

Ka pātai tuatahi tō tākuta ki a koe mō ō tohumate, ā, ka pātai anō hoki mō tō hītori hauora whaiaro me tō hītori hauora whānau. Kātahi ka whakahaerehia he whakamātautau tinana me te whakamātautau roro.

Ka taea hoki e koe te mahi i ētahi atu whakamātautau:

• Ngā whakamātautau tirotiro pēpi hou: I ētahi whenua, ka whakamahia ēnei whakamātautau hei tautuhi i ētahi momo leukodystrophies.
• Ngā whakamātautau toto me te huware ( whakamātautau ira ): Ka taea e ēnei te kite i ngā whakarerekētanga ira i roto i tō DNA.
• Ngā whakamātautau whakaahua: Hei tauira , ka taea te whakahaere i tētahi matawai MRI hei tirotiro i te āhua o te mea ma i roto i te roro me te taurakira.

Ahakoa ēnei whakamātautau katoa, he uaua pea te tautuhi i te leukodystrophy i ētahi wā nā te mea he rerekē ngā tohu. I ētahi wā, he maha ngā mate leukodystrophy kāore i te tautuhia.

He aha ngā maimoatanga mō te leukodystrophy?

Koinei te mea nui rawa atu me mōhio tātou katoa. Kāore anō kia kitea he rongoā mō te leukodystrophy. Engari, ehara i te mea kāore he mea e taea e tātou te mahi. He maha ngā mea ka taea e tātou te mahi hei whakahaere i ngā tohu, hei whakangawari ake i te oranga, hei tiaki hoki i ētahi o ngā mahi a te pūnaha io.

Kei roto pea i ēnei maimoatanga:

• Rongoā mō ngā haurangi, te kukū o te uaua, me ngā raruraru nekehanga.
• Te whakaora kai , te whakamahi rānei i ngā ngongo whāngai hei āwhina i ngā uauatanga ki te kai me te horomi.
• Te rongoā homoni mō ngā raruraru o te mahi a te repe adrenal.
• Te whakaora tinana, te whakaora mahi, me te whakaora kōrero hei whakapai ake i ngā pūkenga pēnei i te hikoi, te taurite, me te kōrero.

He kōwhiringa maimoatanga hou te whakaora ira mō ētahi momo leukodystrophies. Ko te whakauru i ngā rauemi ira ki roto i ngā pūtau hei whakarerekē i te āhua o tā rātou whakaputa i ētahi pūmua.

Ka taea e te whakawhitinga pūtau take, te whakawhitinga wheua rānei te whakapai ake i ngā tohu o ētahi momo leukodystrophy. Heoi, he iti noa ngā wā ka whai hua ai tēnei maimoatanga. Mena ka kitea wawetia te cerebrotendinous xanthomatosis (CTX), ka taea te whakamahi i tētahi maimoatanga e kiia nei ko te chenodeoxycholic acid (CDCA) hei rongoā.

Hei tāpiritanga, he maha ngā whakamātautau haumanu kei te haere tonu hei kimi maimoatanga mō ētahi momo leukodystrophy. Nō reira, ki te mea kei a koe, kei tāu tamaiti rānei tēnei mate, ka taea e koe te kōrero ki tō tākuta kia kite ai mēnā he tika tēnei kōwhiringa maimoatanga hou māu.

He aha te roanga o te oranga mō te mate pukupuku toto (leukodystrophy)?

He kaupapa uaua, he kaupapa tairongo hoki tēnei hei kōrero. He mate haere tonu te Leukodystrophy e pāngia ai te pūnaha io i roto i te wā. He maha ngā tamariki e pāngia ana e te leukodystrophy ka mate i mua i te pakeketanga. Heoi, ka ora ētahi tāngata tae noa ki te pakeketanga. Ahakoa he maha ngā wā ka mate ēnei mate, kua kawea mai e ngā maimoatanga hou me ngā whakamātautau haumanu ētahi tumanako ki te hunga e pāngia ana e te mate.

Ngā mea tino nui hei maumahara mā tātou (Karere hei tango ki te kāinga)

He mate onge, he mate tuku iho te Leukodystrophy o te pūnaha io. Ka pakaru te hipoki tiaki e kiia nei ko te myelin e karapoti ana i ngā io i roto i te roro me te taurakira. Ki te kore he myelin, kāore e taea e ngā io te whakawhitiwhiti kōrero tika, ā, ka puta he maha ngā tohu.

Ahakoa kāore anō kia kitea he rongoā mō tēnei, kei reira ngā rongoā me ngā momo maimoatanga hei whakahaere i ngā tohu me te whakangawari ake i te oranga. Kua whakaatuhia e ngā rangahau hou ngā hua angitu i roto i te rongoā i ēnei āhuatanga. Kia maumahara, kei a koe tonu te tīma hauora o tāu tamaiti, e whakarato ana i te tiaki pai rawa atu mō tāu tamaiti. He mea tino nui kia kaua e mataku, kia rapu wawe i ngā tohutohu hauora, kia mōhio hoki ki ngā mōhiohio tika.

` Leukodystrophy, myelin, mea mā, mate pūnaha io, whakarerekētanga ira, mate tamariki, pūnaha io