Kua kite koe i ētahi whakaroa whanaketanga, i ētahi whanonga rerekē rānei o tāu tamaiti i ēnei rā? I ētahi wā ka whakaarohia ēnei he mea noa e pā ana ki ngā tamariki i a rātou e tipu ake ana, engari he tohu tōmua pea ēnei o tētahi mate onge e kiia nei ko te Sanfilippo Syndrome. Kaua e mataku ki te ingoa. He mate tino onge tēnei. Engari he mea nui kia mōhio ngā mātua ki tēnei. Nō reira, me kōrero mārama, me ngāwari hoki.
He aha rawa te mate Sanfilippo?
He māmā noa iho, he mate ira onge tēnei e pā ana ki te pākia o te tinana me te whanaketanga o te roro o te tamaiti. E kiia ana hoki ko te mucopolysaccharidosis momo III.
Whakaarohia tō tātou tinana he wheketere nui. Kia pai ai te mahi a tēnei wheketere, me wawahi, me wawahi, me horoi, me tango atu ētahi mea. Ko ngā kaimahi iti e āwhina ana ki tēnei mahi e kiia ana ko ngā whākōkī . Kāore i te tamaiti he mate Sanfilippo tētahi o ēnei whākōkī nui.
Ki te kore tēnei whākōkī, kāore te ngota huka tūturu e kiia nei ko te heparan sulfate e pakaru tika ana, e tangohia atu rānei i te tinana. Engari, ka tīmata te kohikohi ki roto i ngā pūtau o te tinana. He rite ki te para i roto i te wheketere kāore e horoia. Ka rongoatia tēnei rauemi kua kohikohia ki roto i ngā wāhanga i roto i ngā pūtau e kiia nei ko ngā lysosomes . Koia te take i kiia ai tēnei mate he mate rokiroki lysosomal .
Ina nui haere tēnei para, kāore e taea e ngā pūtau te mahi tika. I roto i te wā, ka kino pea ngā okana, ka ārai i te tipu, ka puta he raruraru whanonga, ā, ka tino kino hoki te pūnaha io.
He tino onge tēnei mate. Tata ki te kotahi i roto i te 70,000 whānautanga ka pāngia. Ko te roanga o te oranga mō ngā tamariki e pāngia ana e tēnei mate kei waenganui i te 10 me te 20 tau. Heoi, ki te mea kua pāngia tētahi o te whānau e tēnei mate i mua, ka nui ake te tūponotanga ka pāngia te tamaiti e tēnei mate.
He rerekē ngā momo o tēnei mate?
Āe, e whā ngā momo matua o tēnei mate. E whā ngā momo whākōkī e āwhina ana ki te wawahi i te heparan sulfate i kōrerohia e tātou i mua ake nei. Nō reira, ko te momo mate ka whakatauhia e te mea kei roto i ēnei momo whākōkī e whā te ngoikore . Ko ētahi momo he iti ake te kino i ētahi atu.
| Momo mate | Ngā tohu motuhake | Te roanga o te oranga toharite |
|---|---|---|
| Momo A | Ko te momo tino kitea, ā, he tino kino hoki. Ka tere te puta mai o ngā tohu. Tērā pea ka tere te ngaro o te kaha o te tamaiti ki te hikoi me te kōrero. | Tata ki te 15 tau. |
| Momo B | He iti ake te kaha i tērā momo A. Ka āta puta haere ngā tohumate. | Tekau mā iwa pea ōku tau. |
| Momo C | He momo tino onge. Ka āta puta ngā tohu. Ka roa te mau o ngā pūkenga pēnei i te hikoi me te kōrero. | E 23 pea ōna tau. |
| Momo D | Ko te momo tino onge. Ka tino puhoi te whanaketanga o ngā tohu. He iti noa iho ngā raraunga mō tēnei. | Kāore e taea te kī pono. |
He mea nui: He toharite noa iho ēnei roanga oranga. He rerekē ia tamaiti. Nō reira, ka rerekē pea i runga i te āhua o ia tamaiti.
He aha ngā tohu o tēnei mate?
Ko ngā tohu tōmua ka tīmata te puta mai i waenganui i te whānautanga me te 2 tau te pakeke. Heoi, i ētahi wā, kāore pea ngā mātua e mōhio ki a rātou, ka pohehe rānei ngā tākuta he mate kē atu (hei tauira, te autism).
| Momo āhuatanga | Ngā tohu e kitea whānuitia ana |
|---|---|
| Ngā Tohu Tūatahi | |
| Te tipu me te whanonga | Te whakaroa i te kōrero me ētahi atu whanaketanga matatau, ngā whanonga rite ki te autism, te hihiko rawa o te tinana, te mate pinepine o te taringa me te ihu, ngā raruraru moe (te kore moe/te oho ake). |
| Ngā āhuatanga ā-tinana | He āhua taratara te āhua o te mata (te rae me ngā tukemata e pūweru ana, ngā ngutu me te ihu kī tonu), te tupu nui o te huruhuru o te tinana (hirsutism), he nui ake te upoko i te mea noa (macrocephaly), me te hernia pito. |
| Ētahi atu | Te pupuhi tonu o te ara manawa o runga, te mate korere pumau. |
| Ngā Tohu o Mutunga | |
| Ngā pūkenga kua heke | Te hekenga o te kaha ki te ako, ki te whakaaro, me te mahi i ngā mahi, me te ngaronga o te kaha ki te hikoi, ki te kōrero, ki te kai, me te whakarongo i roto i te wā. |
| Ngā huringa ā-tinana | Ka kitea nuitia ngā āhuatanga o te kanohi, ka pakari ngā hononga, ka mimiti te kiko o te roro (te ngoikore o te roro), ka haurangi, ka nui haere te ate, te whēkau rānei. |
| Whanoke | Ka kino haere ngā raruraru whanonga, te hihiko rawa, me te hiahia ohorere. |
Te āhua motuhake o ngā tukemata
Tērā pea ka kite ngā mātua i ngā panonitanga o te kanohi o ngā tamariki e pāngia ana e tēnei mate, inā koa kei te taha rātou o ngā tuākana, teina rānei. He matotoru ake, he nui ake ngā tukemata i te mea noa.Ko tētahi āhuatanga motuhake o tēnei mate ko te honoa o ēnei kamo e rua i ētahi wā, ka rite rāua ki te tukemata kotahi puta noa i te rae. Ka kitea nuitia tēnei āhuatanga i te tipu haere o te tamaiti.
Me pēhea te tautuhi i te mate?
Nā te mea he mate onge tēnei, ā, he rite tonu ngā tohu tōmua ki ētahi atu mate, he maha ngā wā kāore ngā tākuta e whakamātautau i te wā tōmua. Engari he mea tino nui kia tātaritatia te mate i te wā wawe tonu kia taea ai e te tamaiti te whiwhi i te tautoko me te maimoatanga e hiahiatia ana e rātou.
Mena he whakaroa te whanaketanga o tāu tamaiti, he whānautanga hapa, me ētahi o ngā tohu tōmua i kōrerotia e tātou, ka tukuna pea koe e tō tākuta mō ngā whakamātautau ira, whakamātautau pākia rānei.
- Whakamātautau mimi: Ko te whakamātautau tuatahi me mahi ko te whakamātautau mimi. Mena ka teitei te taumata o te heparan sulfate i roto i te mimi o te tamaiti, he tohu tera kei te kitea pea te mate Sanfilippo.
- Whakamātautau toto: Ka mahia he whakamātautau toto hei whakaū i te mate. Mā tēnei ka tirohia mēnā he iti te mahi a te whākōkī e tika ana.
Ki te mea he āwangawanga āu mō te whanaketanga, mō ngā whanonga rānei o tāu tamaiti, kaua e mataku, engari me whakatau e koe anō. Ko te mea pai ko te kōrero ki tō tākuta tamariki mō tēnei.
He aha ngā maimoatanga?
Engari, kāore he rongoā mō te mate Sanfilippo, nō reira ko te whāinga matua a ngā tākuta he whakarato i te manaaki tautoko . Arā, he whakahaere i ngā tohu me te hoatu ki te tamaiti te kounga pai o te oranga mō te wā roa rawa atu.
He maha ngā maimoatanga me ngā rongoā e whakamahia ana mō tēnei:
- Whakaora reo-kōrero: He tohu noa te whakaroa kōrero. Ka āwhina te kaiwhakaora reo i te tamaiti ki te kōrero mā te whakamahi i ngā kupu me ngā tohu (hei tauira, ngā kāri pikitia).
- Whakaora whāngai: I te whanaketanga o te mate, ka uaua te ngaungau me te horomi. Ka whakawhanakehia e te kaiwhakaora whāngai he tikanga hei āwhina i te tamaiti kia kai haumaru.
- Whakaora tinana: Mā tēnei whakaora ka taea e te tamaiti te hikoi mō te wā roa rawa atu, kia kaha tonu, kia mau tonu hoki te taurite. Mēnā e tika ana, ka taea hoki e ia te āwhina i a rātou ki te tiki taputapu pēnei i te tūru wīra.
- Whakaora mahi: Ka āwhina tēnei whakaora ki te pupuri i ngā pūkenga nekeneke pai, pērā i te whakakakahu me te pupuri i ngā taonga takaro, mō te roa e taea ai.
Hei tāpiritanga, kei te ao ngā maimoatanga whakamātautau, pērā i te Whakaora Whakakapinga Whākōkī (ERT) me te Whakaora Ira.
Ko koe, te kaitiaki o te tamaiti, me whakaaro hoki koe ki a koe anō.
He kawenga nui te tiaki i tētahi tamaiti he pēnei te mate onge. He patunga tapu nui hoki. He mea noa kia pōuri koe, kia ahotea, kia pouri, kia riri hoki i tēnei haerenga.
Kāore koe e hiahia ki te haere ko koe anake i tēnei haerenga. Mēnā he tautoko tika, he mōhiotanga hoki tōu, ka taea e koe te whakarato i te manaaki pai rawa atu mō tāu tamaiti.
Nō reira, kaua e wareware ki te whakaaro ki a koe anō me tāu tamaiti.
- Tonoa he āwhina mai i tētahi e whakawhirinaki ana koe.
- Whakaritea he wā mōu ake ki te okioki mō tētahi wā poto.
- Kōrerohia ō kare ā-roto ki tō whānau, ki tō tākuta rānei. Mēnā e tika ana, rapua he āwhina a tētahi kaitohutohu hauora hinengaro.
Kia maumahara, ki te hoatu e koe te mea pai ki tāu tamaiti, me ora tonu koe i te tuatahi .
Karere Tangohia ki te Kāinga
- He mate ira onge te Sanfilippo Syndrome e pā ana ki te tukanga whakakore para o te tinana.
- Ko ngā tohu tōmua ko te whakaroa whanaketanga, ngā uauatanga ki te kōrero, te hihiko o te tinana, me ngā āhuatanga kanohi motuhake.
- Ahakoa kāore he rongoā motuhake mō tēnei mate, he maha ngā tikanga maimoatanga ka taea te whakahaere i ngā tohu me te whakarato i te kounga pai o te oranga mō te tamaiti.
- Mena he ruarua āu mō te whanaketanga o tāu tamaiti, me toro atu ki tō tākuta tamariki tonu mō ētahi tohutohu.
- He mahi uaua tēnei hei tiaki i tētahi tamaiti, nō reira he mea nui kia tiakina e koe tō hauora tinana me tō hauora hinengaro.
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