He aha te Mate o Prader-Willi? Tohutohu, Take, me te Maimoatanga

Ko te mate o Prader-Willi he āhuatanga ira tino onge e pā ana ki te whanaketanga o to tinana me te mahi mai i te whānau. Ka puta mai i te kore mahi tika o ētahi ira i te karōme 15, ā, ka arahi ki ngā wero mō te tipu, te manaaki i te hūngā, me te whanaketanga.

Ka pā tēnei āhuatanga ki ngā āhuatanga maha o te oranga o te tangata, mai i te tipu tinana tae atu ki te ako me te whāinga. Ahakoa e hiahia ana ki te tiaki me te tautoko mō te ora katoa, ka taea e ngā tāngata e pangia ana e te mate o Prader-Willi te ora i ngā oranga whai hua me te tiaki hauora tika, te tautoko whānau, me ngā rauemi hapori.

He aha te Mate o Prader-Willi?

Ko te mate o Prader-Willi he mate ira uaua e pā ana ki te tata ki te 1 i roto i te 15,000 ki te 30,000 o te iwi o te ao. Ka puta mai i te ngaro ranei te kore mahi tika o ngā ira motuhake i te karōme 15.

Ka hanga e te āhuatanga tētahi tauira motuhake o ngā tohu e whakarerekē ana i te tipu o te tangata. I te wā pēpi, ka whawhai ngā pēpi ki te ngoikore o te uaua me ngā raruraru kai. I te wā e pakeke haere ana rātou, i te nuinga o te wā i waenga i te tau 2 ki te 8, ka puta he hūngā kaha, tata kore e makona e taea te arahi ki te nui o te taumaha mena kaore i te manaaki tika.

Ko te mea e tino wero ana i tēnei āhuatanga ko te pānga ki te hypothalamus, he wāhanga iti engari nui o te roro e manaaki ana i te hūngā, te tipu, te pāmahana o te tinana, me ngā kare-a-roto. Whakaarohia hei pokapū manaaki o to tinana e āwhina ana ki te whakarite i ngā mahi aunoa maha.

He aha ngā tohu o te Mate o Prader-Willi?

Ka whakarerekē ngā tohu o te mate o Prader-Willi i te wā e tipu haere ana te tangata, ka hangaia ngā wāhanga motuhake e mohiotia ana e ngā whānau me ngā tākuta. Ka kawea mai e ia wāhanga ona ake wero me ngā hiahia.

I te wā pēpi (whanau ki te 2 tau), ka kite pea koe:

• Te ngoikore o te uaua, ka ngāwari te pēpi ki te pupuhi ina mau
• Te tangi ngoikore me te raruraru mimi ranei te kai
• Te kore pai o te taumaha ahakoa ngā kainga
• Te moe nui me te ngoikore o te mahi
• Ngā āhuatanga kanohi motuhake penei i ngā kanohi ālmoni me te ngutu pito o runga
• Ngā ringa me ngā waewae iti mō te rahi o tō rātou tinana

I te wā e uru ana ngā tamariki ki te tamarikitanga (ngā tau 2 ki te 8), ka puta ngā whakarerekētanga nui:

• Te hūngā kaha e kore e taea te makona
• Te tere o te taumaha mena kaore i te manaaki te uru ki te kai
• Te poto o te teitei i te whakataurite ki ngā hoa
• Ngā whakaroa whanaketanga i te kōrero, ngā pūkenga motuka, me te ako
• Ngā wero whāinga penei i ngā riri me te pakari
• Ngā raruraru moe, tae atu ki te moe nui i te awatea

I te taitamarikitanga me te pakeketanga, ka uru mai pea ētahi atu tohu:

• Te kore o te whanaketanga ira me te kore tamariki
• Ngā wero tonu ki te whakahaere taumaha
• Ngā awangawanga hauora hinengaro penei i te awangawanga, i ngā whāinga obsessive ranei
• Te raruraru ki ngā hononga hapori me te whakahaere kare-a-roto
• Te scoliosis (tūā kau) i ētahi wā

Ka rerekē rawa enei tohu mai i te tangata ki te tangata. Ka iti pea ngā tohu o ētahi tangata, ka nui ake ngā wero o ētahi. Ko te mea nui ko te mohiotanga wawe me te tautoko tika.

He aha ngā take o te Mate o Prader-Willi?

Ka puta te mate o Prader-Willi nā ngā raruraru ki ngā ira i te karōme 15, ina koa ko ngā mea e puta mai ana i te taha o te matua tane. Kāore tēnei hei mea i puta mai i ngā mātua, kāore rātou i taea te aukati.

E toru ngā take ira matua, ia ia e pā ana ki te mahi a ngā ira:

• Te mukua (tata ki te 70% o ngā take): Ka ngaro he wāhanga iti o te karōme 15
• Te disomy matua kotahi (tata ki te 25% o ngā take): Ka whiwhi te tamaiti i ngā kape e rua o te karōme 15 mai i te whaea, kāore hoki mai i te matua
• Ngā hapa whakairo (tata ki te 5% o ngā take): Kei reira ngā ira engari kua mutu te mahi ina tika te mahi

Ka puta enei whakarerekētanga ira i te wā o te hanganga o ngā pūtau whakaputa uri, i te tīmatanga ranei o te whanaketanga o te pēpi. I te nuinga o ngā take, kāore i te whakawhitia mai i ngā mātua, ahakoa he onge, ka nui ake pea te tūponotanga o ētahi whānau ki te whānau atu i tētahi tamaiti e pangia ana e te āhuatanga.

Ka āwhina ngā ira e pā ana ki te manaaki i te hūngā, te tipu, te whanaketanga uaua, me ētahi atu mahi nui. Ki te kore e mahi tika, ka hangaia te tauira uaua o ngā tohu e kite ana tātou i te mate o Prader-Willi.

Nōhea te haere ki te taakuta mō te Mate o Prader-Willi?

Mena ka kite koe i ngā tohu e awangawanga ana i tō pēpi, i tō tamaiti ranei, he mea nui kia kōrero wawe ki tō kaiwhakarato hauora. Ka taea e te whakatau me te whakauru wawe te whakarerekē nui ki te whakahaere i te āhuatanga.

Whakapa atu ki tō taakuta mena ka kite koe i ēnei tohu whakatūpato wawe i ngā pēpi:

• Te ngoikore nui, te ngoikore ranei o te uaua
• Te raruraru kai, te kore pai ranei o te taumaha
• Te moe nui, te ngoikore ranei o te whakautu
• Te tangi ngoikore, ngā āhuatanga kanohi motuhake ranei
• Ngā whakaroa whanaketanga

Mō ngā tamariki pakeke ake, rapuhia te tiaki hauora mena ka kite koe:

• Te piki ohorere o te hūngā, te tere ranei o te taumaha
• Ngā whāinga e awangawanga ana e pā ana ki te kai
• Ngā whakaroa whanaketanga nui
• Ngā whakarerekētanga whāinga, ngā raruraru kare-a-roto ranei
• Ngā tohu o te kore o te whanaketanga ira i ngā taitamariki

Kia mahara, ka āwhina te whakatau wawe i ngā whānau ki te uru ki te tiaki hauora tika, te tautoko kai, me ngā rauemi mātauranga. Ka taea e tō rōpū hauora te whakarato aratohu me te hono atu ki ngā tohunga e mārama ana ki tēnei āhuatanga.

He aha ngā take tūponotanga mō te Mate o Prader-Willi?

Ka puta noa te mate o Prader-Willi, ko te tikanga kaore he take tūponotanga e mohiotia ana e te nuinga o ngā whānau. Ka puta noa ngā whakarerekētanga ira i te wā o te whanaketanga wawe.

Heoi, he torutoru ngā āhuatanga ka nui ake pea te tūponotanga:

• Te pakeketanga o te whaea (neke atu i te 35), ahakoa he iti rawa te piki o te tūponotanga
• Te hītori whānau onge o ngā āhuatanga karōme
• Te tamaiti o mua e pangia ana e te mate o Prader-Willi (ahakoa he onge te hokinga mai)

He mea nui te mārama kaore te whānau i tētahi tamaiti e pangia ana e te mate o Prader-Willi i puta mai i tetahi mea i mahi, kāore rātou i mahi. Ka pā te āhuatanga ki ngā iwi katoa, ka puta puta noa te ao me te auau rite.

Mena kei a koe te hītori whānau o ngā āhuatanga ira, kua whānau ranei koe i tētahi tamaiti e pangia ana e te mate o Prader-Willi, ka taea e te tohutohu ira te whakarato i ngā korero whaiaro e pā ana ki ngā tūponotanga me ngā kōwhiringa whakatōpū whānau.

He aha ngā raruraru pea o te Mate o Prader-Willi?

Ka taea e te mate o Prader-Willi te arahi ki ngā raruraru hauora maha e hiahia ana ki te tiaki hauora tonu me te manaaki tika. Ka āwhina te mārama ki ēnei ki te whakarite i ngā whānau me te rapu i te tiaki tika.

Ko ngā raruraru tino noa ko:

• Te momona me ngā raruraru hauora e pā ana penei i te mate huka me te mate ngākau
• Ngā raruraru moe, tae atu ki te moe apnea
• Ngā wero whāinga me te hauora hinengaro
• Ngā raruraru wheua penei i te osteoporosis me te scoliosis
• Ngā raruraru niho nā te māku māku me te ngiha niho
• Te kohi kiri e taea te arahi ki ngā mate

Ka nui ake pea ngā raruraru kino engari he iti te noa:

• Te momona nui e arahi ana ki ngā raruraru manawa
• Te gastric necrosis (raruraru puku) mai i te nui o te kai
• Te ngākau kino mai i te tere o te kai
• Ngā wāhanga whāinga nui e hiahia ana ki te whakauru
• Te motu hapori me ngā raruraru whanaungatanga

Ko te rongo pai ko te nuinga o ēnei raruraru ka taea te aukati, te whakahaere ranei me te tiaki hauora tika, te tautoko kai, me ngā whakauru whāinga. Ka whakarerekē te arotautanga me te rōpū tautoko kaha i ngā hua.

Me pēhea te aukati i te Mate o Prader-Willi?

I tēnei wā, kāore he huarahi hei aukati i te mate o Prader-Willi nā te mea ka puta mai i ngā whakarerekētanga ira noa e puta ana i te wā o te whanaketanga wawe. Kāore te āhuatanga i puta mai i ngā take taiao, i ngā mahi mātua ranei.

Heoi, mena kei te whakamahere koe i te haputanga, kei a koe ranei ngā awangawanga e pā ana ki ngā āhuatanga ira, ka taea te awhina i te tohutohu ira. Ka taea e te kaitohutohu ira te kōrero e pā ana ki tō hītori whānau me te whakamārama i ngā kōwhiringa whakamātautau.

Mō ngā whānau kua pāngia e te mate o Prader-Willi, ka whakarerekē te aro ki te aukati i ngā raruraru mā te whakauru wawe me te tiaki tonu. Kei roto i ēnei te whakatū i ngā tikanga kai pai, te hanga i ngā taiao kai haumaru, me te hanga i ngā pūnaha tautoko kaha.

Me pēhea te whakatau i te Mate o Prader-Willi?

Ko te whakatau i te mate o Prader-Willi e hāngai ana ki te tirotiro tika i ngā tohu me te whakamātautau ira motuhake. Ka tīmata te tukanga i te wā e kite ana ngā tākuta i ngā tohu āhuatanga i te wā pēpi, i te tamarikitanga wawe ranei.

Ka tīmata pea tō kaiwhakarato hauora ki te whakamātautau tinana me te arotake i ngā tohu. Ka titiro rātou ki ngā āhuatanga motuhake penei i te ngoikore o te uaua, ngā raruraru kai, me ngā āhuatanga kanohi motuhake.

Ko te whakatau tino e hiahia ana ki te whakamātautau ira, ka uru pea ki:

• Te whakamātautau methylation hei tirotiro i ngā tauira mahi ira
• Te tātaritanga karōme hei titiro ki ngā mukua
• Ngā whakamātautau atu hei whakatau i te take ira motuhake

He tino nui te whakatau wawe nā te mea ka taea e ngā whānau te uru ki te tiaki hauora motuhake, te tautoko kai, me ngā rauemi mātauranga. Ka āwhina hoki ki ngā kaiwhakarato hauora te whakaaro me te aukati i ngā raruraru pea.

Ka raru pea te tukanga whakatau, engari kia mahara kei reira tō rōpū hauora hei aratohu i a koe i ia kaupae me te whakautu i ō pātai.

He aha te maimoatanga mō te Mate o Prader-Willi?

Ko te maimoatanga mō te mate o Prader-Willi e aro ana ki te whakahaere i ngā tohu me te aukati i ngā raruraru i te ora katoa o te tangata. Kāore he rongoā, engari ka taea e te tiaki whānui te whakapai ake i te kounga o te ora.

Ko ngā maimoatanga hauora e uru ana ki:

• Te rongoā horomona tipu hei whakapai ake i te teitei, te uaua, me te hanganga tinana
• Te tohutohu kai me te whakahaere kai pakari
• Te rongoā tinana hei whakapai ake i te kaha o te uaua me ngā pūkenga motuka
• Te rongoā kōrero mō ngā wero kōrero
• Ngā whakauru whāinga mō ngā raruraru kare-a-roto me te hapori
• Te maimoatanga mō ngā raruraru moe me ētahi atu raruraru hauora

Ko te rōpū tiaki e whakauru ana ki ngā tohunga maha e mahi tahi ana. Ka whakahaere tō taakuta tiaki matua me ngā tohunga endocrinology, ngā tohunga kai, ngā kaitiaki, me ngā tohunga whāinga hei hanga i tētahi mahere maimoatanga whānui.

He tino motuhake ngā mahere maimoatanga nā te mea he rerekē ngā hiahia o ia tangata. Ko te mea e pai ana mō tētahi tangata ka hiahia pea ki te whakarerekē mō tētahi atu, ka whakarerekē ngā hiahia i te wā e tipu haere ana, e whānau haere ana rātou.

Me pēhea te tango i te maimoatanga kāinga i te wā o te Mate o Prader-Willi?

Ko te whakahaere i te mate o Prader-Willi i te kāinga e hiahia ana ki te hanga i tētahi taiao haumaru, whakarite e whakautu ana ki ngā wero motuhake o tēnei āhuatanga. Ko te arotautanga ko te whakatū i ngā mahi e tautoko ana i te hauora me te oranga pai.

Ko te whakahaere kai te wero nui rawa pea o te tiaki kāinga:

• Kia haumaru ngā wāhi kai katoa me ngā pūmau, ngā karaka ranei
• Whakatū i ngā wā kai noa me ngā wāhanga manaaki
• Aro ki ngā kai kai ora, e makona ana i te hūngā
• Whakauru i te whānau ki te whakamahere kai me te whakarite
• Hangaia ētahi atu mahi i ngā wā o te aro ki te kai

Ko te tautoko i te hauora whānui me te whanaketanga e whakauru ana ki:

• Te whakatenatena i te mahi tinana noa e tika ana mō te taumata kaha
• Te pupuri i ngā mahi moe mau
• Te whakarato i te tautoko kare-a-roto me te mārama
• Te hanga i te hanganga me ngā mahi whakamārama
• Te whakanui i ngā mahi me te hanga i te whakaaro pai

Kia mahara he mahi rōpū te tiaki kāinga. Kei a ngā mema whānau, ngā kaiwhakahaere, me ngā hoa katoa ngā mahi nui ki te hanga i tētahi taiao tautoko. Kaua e whakaroa ki te tono awhina ina hiahia koe.

Me pēhea te whakarite mō tō hui taakuta?

Ko te whakarite mō ngā hui hauora e āwhina ana ki te whakarite ka whiwhi koe i te nuinga mai i tō wā me ngā kaiwhakarato hauora. Ka arahi te whakarite pai ki te kōrero pai ake me te tiaki whai hua ake.

I mua i tō hui, kohikohia ngā korero nui:

• Tuhia ngā tohu motuhake, ngā awangawanga ranei kua kite koe
• Tātaihia ngā whakarerekētanga i ngā tauira kai, moe, whāinga ranei
• Rārangihia ngā rongoā me ngā tāpiri o nāianei
• Whakaritea ngā pātai e pā ana ki ngā kōwhiringa maimoatanga, ki te whakahaere o ia rā ranei
• Kawea mai ngā rekoata hauora, ngā hua whakamātautau ranei

I te wā o te hui, kaua e whakaroa ki te ui pātai e pā ana ki tetahi mea kaore koe i te mārama. E hiahia ana tō rōpū hauora ki te āwhina i a koe kia whai mōhio me te whakapono ki te mahere tiaki.

Whakaarohia te kawea mai i tētahi mema whānau, i tētahi hoa ranei hei āwhina ki te mahara ki ngā korero nui i kōrerotia i te wā o te haerenga. Ka taea hoki te awhina i te tuhi i ngā tuhinga mō te arotake i muri mai.

He aha te mea nui e pā ana ki te Mate o Prader-Willi?

Ko te mate o Prader-Willi he āhuatanga ira uaua e hiahia ana ki te whakahaere mō te ora katoa, engari me te tiaki me te tautoko tika, ka taea e ngā tāngata e pangia ana e tēnei āhuatanga te ora i ngā oranga whai hua. Ka whakarerekē te whakatau me te whakauru wawe i ngā hua.

Ko te mea nui rawa hei mahara ko te kore koe i te kotahi i roto i tēnei haerenga. Kei reira ngā kaiwhakarato hauora, ngā rōpū tautoko, me ngā rauemi i hangaia motuhake hei āwhina i ngā whānau e pāngia ana e te mate o Prader-Willi.

Ahakoa ka whakaputa mai te āhuatanga i ngā wero motuhake, ka kite te maha o ngā whānau i te kaha i te hono atu ki ētahi atu e mārama ana ki ō rātou wheako. Aro ki te whakanui i ngā mahi, te hanga i ngā kaha, me te tango i ngā mea kotahi te rā.

Ngā pātai e ui pinepinetia ana e pā ana ki te Mate o Prader-Willi

P1: Ka taea e ngā tāngata e pangia ana e te mate o Prader-Willi te noho motuhake?

Ka taea e ētahi tangata e pangia ana e te mate o Prader-Willi te noho tata motuhake me te tautoko, ka hiahia ētahi atu ki te tiaki nui ake. Ko te taumata o te motuhake e hāngai ana ki ngā kaha o te tangata, te kaha o ngā tohu, me ngā pūnaha tautoko e wātea ana. Ka tupu te maha o ngā tāngata i roto i ngā āhuatanga noho whakahaere me te tautoko tika.

P2: Kei te whakawhitia mai te mate o Prader-Willi i ngā mātua?

I te nuinga o ngā take, ka puta noa te mate o Prader-Willi, kāore hoki i te whakawhitia mai i ngā mātua. Heoi, i ngā take onge e pā ana ki ngā hapa whakairo, ka nui ake pea te tūponotanga iti mō ngā haputanga kei te heke mai. Ka taea e te tohutohu ira te whakarato i ngā korero whaiaro e pā ana ki ngā tūponotanga hokinga mai.

P3: E hā roa te ora o ngā tāngata e pangia ana e te mate o Prader-Willi?

Me te tiaki hauora me te whakahaere tika, ka taea e te maha o ngā tāngata e pangia ana e te mate o Prader-Willi te ora i ngā oranga tata noa. Ko ngā take nui e pā ana ki te roa o te ora ko te whakahaere i ngā raruraru e pā ana ki te momona me te pupuri i te hauora whānui pai mā te tiaki whānui.

P4: Ka āwhina te rongoā horomona tipu i taku tamaiti?

Ka tino whai hua te rongoā horomona tipu mō te maha o ngā tamariki e pangia ana e te mate o Prader-Willi. Ka whakapai ake i te teitei, ka piki ake te uaua, ka whakaiti i te ngako o te tinana, ka āwhina pea ki ngā taumata kaha me te whanaketanga whānui. Ka taea e tō rōpū hauora te aromatawai mena he tika tēnei maimoatanga mō tō tamaiti.

P5: Kei reira ngā rōpū tautoko mō ngā whānau e pāngia ana e te mate o Prader-Willi?

Ae, kei reira ngā rōpū tautoko me ngā whakahaere maha e whakatapua ana ki te āwhina i ngā whānau e pāngia ana e te mate o Prader-Willi. Ka whakarato ēnei rōpū i ngā rauemi whai hua, te tautoko kare-a-roto, me ngā tohutohu mahi mai i ētahi atu whānau e mārama ana ki ngā wero e tūtaki ana koe.