Kei tō tamaiti ēnei tohu? Me kōrero tātou mō te 'Ataxia-Telangiectasia (AT)'!

He maha ake ngā tūtukitanga o tāu tamaiti i ngā tamariki kē atu i a ia e hikoi ana, he uaua rānei ki a ia te pupuri i tōna taurite? He maha ngā wā ka kitea he pungawerewere whero iti i ōna kanohi, i ōna paparinga rānei? He iti ēnei mea kāore e arohia e tātou i ētahi wā, engari he tohu tōmua pea ēnei o tētahi mate ira onge e kiia nei ko te `Ataxia-Telangiectasia (AT). Nō reira, ahakoa he kaupapa uaua tēnei, me kōrero tātou i roto i tētahi huarahi māmā e mārama ai koe.

He aha rawa te 'Ataxia-Telangiectasia (AT)'?

Ki te whakarapopototanga, ko te 'Ataxia-Telangiectasia (AT),' e mōhiotia ana e ētahi ko te 'Louis-Bar Syndrome,' he mate ira tino onge e pā nui ana ki tō tātou pūnaha io, te whatunga o ngā io e kawe ana i ngā karere mai i te roro, te taurakira, puta noa i te tinana, me te pūnaha ārai mate, e tiaki ana i tō tātou tinana mai i ngā mate.

He āhuatanga `(neurodegenerative)` tēnei. Arā, i roto i te wā, ka ngoikore haere ngā pūtau o tō tātou pūnaha io, ā, ka heke haere tā rātou mahi. Whakaarohia he rite ki te mīhini i pai te mahi i mua ka tawhito haere, ā, ka tawhito haere ngā wāhanga, ka mutu te mahi. Ina ngoikore ēnei pūtau io, ka puta he āhuatanga e kiia nei ko te `(ataxia)`, ka ngaro te taurite o te tinana i te wā taitamariki, ā, ka kore e taurite ngā nekehanga. Koia te take i huaina ai ko te "ataxia".

Ko tētahi atu tohu matua ko te telangiectasia. Koinei te wā e puta ai ngā uaua toto whero iti, rite ki te miro, ki ngā mā o ngā kanohi, ā, i ētahi wā ki ngā paparinga me ngā taringa. Kāore he mamae o ēnei i te nuinga o te wā, engari he tohu ēnei nō te mate.

Ko wai ka pāngia e tēnei mate?

Ko te 'Ataxia-Telangiectasia (AT)' ka puta mai i te huringa o ngā ira, arā, he 'whakarerekētanga ira' . Ka taea e te tangata te whiwhi i tēnei. Engari me pēhea koe e mōhio ai? Ka puta noa tēnei mate mēnā ka whiwhi te tamaiti i tētahi tārua whakarerekētanga o tēnei ira 'ATM' mai i te whaea me te pāpā. I roto i te rongoā, ka kiia tēnei he 'whakarerekētanga (autosomal recessive)'.

Whakaarohia kotahi anake te tārua o tēnei ira kua whakarerekētia e ngā mātua e rua. Kātahi ka kore rāua e whakaatu i ngā tohu, nā te mea e rua ngā tārua o te ira kua whakarerekētia e hiahiatia ana hei whakawhanake i te mate. Engari ko rāua ngā "kaikawe" o tēnei ira. Nō reira, ko te tamaiti nō ngā mātua e rua he kaikawe, ka taea te whiwhi i ngā tārua e rua o tēnei ira kua whakarerekētia. Ki te tupu tēnā, ka pāngia te tamaiti e te mate `AT`. E ai ki ngā tatauranga i te Hononga o Amerika, tata ki te 1% o te taupori o taua whenua he kaikawe i tēnei tārua kua whakarerekētia o te ira `ATM`.

He pēhea te noa o te 'Ataxia-Telangiectasia (AT)'?

He mate tino onge tēnei. E kiia ana i te ao katoa kotahi i roto i te 40,000 ki te 100,000 tāngata e pāngia ana e tēnei mate. Ko te tikanga he tino onge anō hoki i Sri Lanka.

He pēhea te pānga o tēnei mate ki te tinana o te tamaiti?

Ko te Ataxia-Telangiectasia (AT) he mate e kino haere ana i roto i te wā.Arā, ka piki haere ngā tohu i te roanga o te wā. Ko te tamaiti e pangia ana e te `AT` ka tīmata te whakaatu i ngā tohu i te wā e rima tau te pakeke.

Ko ngā tohu tuatahi ka puta ko ngā raruraru ki te nekehanga.

• I a au e hikoi ana , e ahua ana kei te whiria ōku waewae, ā, ka ngaro tōku taurite .
• Kei te wiriwiri haere ngā peka me ngā waewae, kāore i te āhua tūturu.
• Ka oho noa ngā uaua.
• Ina kōrero ahau , ka rarau aku kupu, ā, me te mea he uaua ki ahau te kōrero .

I te pakeke haere o tāu tamaiti, ā, ka tae ki te taiohitanga, me whai āwhina nekenekehanga pea rātou, pērā i te tūru wīra, hei āwhina i a rātou ki te haereere. E mārama ana ahau he uaua tēnei ki ngā mātua, engari he mea nui kia mōhio ki tēnei āhuatanga.

He aha ngā tohu o te 'Ataxia-Telangiectasia (AT)'?

E ai ki tā tātou i kōrero ai i mua, e rua ngā tohu matua o tēnei mate:

1. Te uaua ki te whakarite i ngā nekehanga (ataxia) : Te uaua ki te hikoi, te ngaro o te taurite, me ētahi atu.

2. Ngā uaua toto whero iti e puta mai ana i roto i ngā kanohi me te kiri (telangiectasia) : Ka kitea ēnei i te nuinga o te wā i roto i ngā mā o ngā kanohi, ngā paparinga, me ngā taringa.

Haunga tēnei, ka kitea anō ētahi atu tohu e pā ana ki te nekehanga i roto i te āhua `AT`:

• Te uaua ki te hikoi (koinei tētahi o ngā tohu matua ka kitea tuatahi).
• Te kore e taea te neke i ngā kanohi mai i tētahi taha ki tētahi taha "oculomotor apraxia" ngā nekehanga kanohi rerekē rānei "nystagmus".
• Ngā nekehanga ohorere, ohorere (chorea).
• Te wiri o te uaua (myoclonus).
• Te ngaro haere o te mahi a ngā io (neuropathy).
• Kōrero pōturi : He maha ngā tamariki e uaua ana ki te whakahua tika i ngā kupu, me te whakamahi i te whakanui tika i roto i ā rātou kōrero. Nō reira, kāore ā rātou kōrero e rite ki te kōrero "noa".
• Ngā raruraru taurite .
• Te whakaroa o te tipu , te ngoikore rānei o te pūnaha endocrine: Ka taea te whakanui ake i tēnei āhuatanga e ngā mate urutā me ngā huringa o ngā homoni tipu.

Ko te Ataxia-Telangiectasia (AT) he mate e ngoikore ai te pūnaha ārai mate o te tangata . Ka piki haere tēnei ngoikore i te roanga o te wā. Ko ngā tohu o te ngoikore o te pūnaha ārai mate ko:

• Te putanga pinepine mai o ngā mate pūkahukahu mau tonu.
• Te ngenge tonu.
• Te tere ake o te pāngia e te mate i ētahi atu.
• Ngā mate pāwera maha me te puhoi o te whakaora o ngā patunga.
• Te pikinga ake o te mōrearea ki te whakawhanake i ngā mate pukupuku pērā i te `Leukemia` (mate pukupuku toto) me te `Lymphoma` (mate pukupuku o ngā kōpuku lymph).
• Te tairongo nui ki te pānga o te irahiko (hei tauira, ngā hihi-X).

Ko tētahi atu tohu ko te pikinga o te taumata o te pūmua e kiia nei ko te `alpha-fetoprotein (AFP)` i roto i te toto. Kāore i te mōhiotia te tino take o tēnei pikinga o ngā taumata `AFP`.

He aha te take o te 'Ataxia-Telangiectasia (AT)'?

Nā te whakarerekētanga o te ira e kiia nei ko te "ATM" tēnei mate.

Nā, kia titiro tātou he aha noa iho ēnei ira me ngā chromosome. Whakaarohia he pukapuka nui kei roto ngā tohutohu katoa mō te tipu o tō tātou tinana. Ko te ingoa o taua pukapuka ko 'DNA'. Ko ngā upoko o tēnei pukapuka 'DNA' e kiia ana ko 'ira'. Kei roto i ngā mea e kiia nei ko 'chromosome' tēnei 'DNA'. I te nuinga o te wā, e 46 ngā chromosome o te tangata, e 23 ngā takirua kua whakaritea. Ka riro mai i a tātou tētahi mai i tō tātou whaea, ā, ko tētahi mai i tō tātou pāpā hei hanga i ēnei takirua chromosome.

Ina hangaia ngā pūtau i roto i ngā whekau whakaputa uri, ka wehea ēnei pūtau, ka hanga tārua i a rātou anō. I ētahi wā, pērā i te mīhini tā e pupuri ana i tētahi pepa, ka taea e ēnei pūtau te mahi hapa i roto i ō rātou ira, e kiia nei ko ngā whakarerekētanga ira. Ko ētahi tārua o ngā tohutohu ka hangaia kia rite tonu ki tō rātou āhua, ko ētahi ka hangaia he hē.

E ai ki tā mātou i kōrero ai i mua ake nei, ka tukuna iho tēnei ira kua whakarerekētia i roto i te tauira "autosomal recessive". Ko te tikanga o tēnei ko te whaea me te pāpā he kawe i tēnei ira "ATM" kua whakarerekētia, ā, ka pāngia te tamaiti e te mate mēnā ka riro i a rāua te ira kua whakarerekētia. Mēnā nō te mātua kotahi anake, ka noho ko te tamaiti hei kawe anake, ā, kāore e whakaatu i ngā tohu.

He mea tino nui tēnei ira 'ATM'. Nā te mea ka whakaputa i ngā pūmua e kī ana ki te tinana me pēhea te whakatika i tō tātou 'DNA' ina pakaru. He rite ngā pūmua 'ATM' ki ngā kaitirotiro. Ko rātou te hunga e kimi ana i ngā pūtau kua pakaru me ngā kongakonga 'DNA', ā, ka kawe mai i ngā '(ngā whākōkī)' e hiahiatia ana hei whakatika i aua mea. Nā tēnei tukanga whakatika 'DNA' ka maeneene te hurihanga o ngā whārangi o te pukapuka tohutohu o tō tātou tinana.

Waihoki, e kī ana te pūmua `ATM` ki tō tātou pūnaha io me te pūnaha ārai mate, "Me mahi tika koe." Nō reira, ina puta he whakarerekētanga ira i roto i te ira `ATM`, ka heke te mahi a te pūmua `ATM` i te roanga o te wā. Ko te tikanga ka ngaro i ngā pūtau ētahi wāhanga o tā rātou pukapuka tohutohu, ā, kāore e taea e rātou te mahi tika. Koinei te take matua o ngā tohu o te `Ataxia-Telangiectasia (AT)`. Kei te mārama koe?

Me pēhea te tautuhi i te 'Ataxia-Telangiectasia (AT)'?

Ka tīmata te tākuta mā te tirotiro i ō tohumate , me te whakahaere i ngā whakamātautau whakaahua me ngā whakamātautau toto hei whakatau i te whakarerekētanga ira e puta ai ō tohumate. Ka tirohia hoki e tō tākuta te hauora o tāu tamaiti me tōna hītori hauora whānau hei whakatau i te mate. Ki te whakapae koe he AT tōu, he mea nui kia kite i tētahi tohunga ārai mate mō te aromatawai katoa.

He aha ngā whakamātautau e whakamahia ana hei tautuhi i te 'Ataxia-Telangiectasia (AT)'?

He maha ngā whakamātautau hei āwhina i te tautuhi i tēnei mate:

• Whakamātautau ira : He whakamātautau toto tēnei e taea ai te tautuhi i te whakarerekētanga ira motuhake e puta ai ō tohumate.
• Whakaahua Āhua Aukume (MRI) : Ka tangohia e te matawai MRI ngā whakaahua o te roro, ka rapu i ngā tohu o te ngoikore o ngā pūtau io, o ngā pūtau cerebellum rānei (te ngoikore o te cerebellar). He tohu tēnei kei te kino haere te ataxia.
• Te Tātaritanga Karyotyping : He whakamātautau toto anō hoki tēnei. Ka tirohia ngā ira-ira hei tautuhi i ngā āhuatanga ira.
• Ngā whakamātautau toto : Ka mahia ngā whakamātautau toto hei tirotiro i ngā taumata alpha-fetoprotein (AFP) kua teitei ake.

I roto i te maha o ngā whenua, ka whakamahia ngā whakamātautau pēpi hou hei kimi i te mate Ataxia-Telangiectasia (AT). Ki te kore, ka tātaritatia te mate e ngā tākuta i te wā kōhungahunga.

He aha ngā maimoatanga mō te 'Ataxia-Telangiectasia (AT)'?

Ko te maimoatanga mō te 'Ataxia-Telangiectasia (AT)' he whakahaere noa i ngā tohumate . Kāore anō kia kitea he rongoā mō tēnei mate . He takitahi ngā whiringa maimoatanga, arā, he rerekē pea i ia tamaiti, i ia tamaiti. Kei roto pea i ēnei:

• Hei whakahaere i te telangiectasia, he whatunga o ngā uaua toto e puta ana i te kiri , karohia te nui rawa o te pānga o te rā .
• Mena ka puta te mate pukupuku , ka whakamahia te chemotherapy .
• Te whakaora tinana hei whakapakari i ngā uaua.
• Te whiwhi werohanga gammaglobulin mō ngā mate manawa.
• Te whiwhi i te rongoā immunoglobulin hei tautoko i te pūnaha ārai mate ngoikore.
• Te tango i ngā paturopi hei rongoā i ngā mate pāwera.
• Te tango i ngā rongoā pēnei i te Diazepam hei whakahaere i ngā uauatanga kōrero me ngā nekehanga uaua kāore i te tūpato.

Ka taea e au te whakaiti i te mōrearea o taku tamaiti ki te whakawhanake i te `Ataxia-Telangiectasia (AT)`?

Nā te mea ko te 'Ataxia-Telangiectasia (AT)' he hua nō te whakarerekētanga ira, kāore he huarahi hei ārai i tēnei . Heoi, i te nuinga o te wā, he mea ka taea e koe te mahi hei whakaiti i tō tupono ki te whānau tamariki me te mate ira, pērā i te karo i te momi hikareti me te karo i te pānga ki ngā matū. Mena kei te whakaaro koe ki te hapu, he mea pai kia kōrero koe ki tō tākuta mō te tohutohu ira kia mārama ai koe ki tō tupono ki te whānau tamariki me te mate ira pērā i te 'Ataxia-Telangiectasia (AT)'.

He aha ngā mea ka tumanakohia e au mēnā he tamaiti tāku e pāngia ana e te `AT`?

Ko te Ataxia-Telangiectasia (AT) he mate e kino haere ana i te roanga o te wā. Ka tīmata ngā tohu ngawari e pā ana ki ngā nekehanga a tāu tamaiti i te tamarikitanga, me ngā whatunga oko toto e kitea ana i roto i te kiri. I te pakeketanga o te tamaiti, ka ngaro te kaha o ōna pūtau ki te mahi e ai ki te pukapuka tohutohu. Ko te tikanga tēnei ka kino haere ngā tohu o te tamaiti, ā, he maha ngā wā ka hiahia pea rātou ki te whakamahi i te tūru wīra i te wā e pakeke haere ana.

Ko tētahi tohu o tēnei mate ko te ngoikore o te pūnaha ārai mate, nō reira, ahakoa he mate iti noa iho, ka pā kino pea ki te hauora o te tamaiti.

Ka whakanui ake hoki te ngoikore o te pūnaha ārai mate i te tūponotanga o te whakawhanake i ngā mate pukupuku pērā i te leukemia, te lymphoma rānei. Heoi anō, kei reira ngā maimoatanga hei whakapai ake i te mahi a te pūnaha ārai mate, hei āwhina i te pupuri i te hauora o tāu tamaiti.

Ka rerekē te roanga o te oranga mō te AT i runga i te kaha o ngā tohu. Heoi, ko te nuinga o te hunga whai mate nei ka ora tae noa ki te pakeketanga (tata ki te 30 tau, ko te toharite he 25 tau). Mā te rongoā wawe i ngā mate noa me ngā tirotiro ārai mō te mate pukupuku ka taea te whakaroa i te roanga o te oranga.

He rongoā anō kei te wātea mō te 'Ataxia-Telangiectasia (AT)'?

Kāore, kāore anō kia kitea he rongoā mō te 'Ataxia-Telangiectasia (AT)' . Ko te whāinga o ngā maimoatanga he whakamama i ngā tohu, he whakangawari ake i te oranga mō ia tangata whai mate, me te āwhina ki te whakaroa i tōna roanga o te ora.

Me pēhea taku tiaki i taku tamaiti me te `AT`?

Ina kitea e koe kei te pāngia tō tamaiti e te `Ataxia-Telangiectasia (AT),` he uaua pea ki te mārama ki te āhua katoa o te mate, me te mōhio me pēhea te āwhina i tō tamaiti. Ka whakaratohia e te tākuta o tō tamaiti he mahere maimoatanga e hāngai ana ki ōna tohu, ā, ka wātea ia ki te whakautu i ō pātai katoa.

Tērā pea ka tūtohu atu tō tākuta kia tūtaki koe ki tētahi kaitohutohu ira . He tohunga ngā kaitohutohu ira ki ngā ira. Ka taea e rātou te āwhina i tō whānau ki te ako atu mō te Ataxia-Telangiectasia (AT) me te āwhina i tāu tamaiti kia noho i tētahi oranga whakamarie, whai hua hoki. Ka taea hoki e rātou te āwhina i a koe ki te aro atu ki te ahotea e pā ana ki a koe i te wā e whiwhi tātaritanga mate ana tāu tamaiti.

Āhea ahau me toro atu ki te tākuta?

Nā te mea ka pā te Ataxia-Telangiectasia (AT) ki te pūnaha ārai mate, ki te whakaatu tō tamaiti i ngā tohu o te mate , me toro atu koe ki te tākuta tonu mō te maimoatanga. Ko ngā tohu o te mate ko:

• Te rerekētanga o te kiri i te wāhi kua pangia.
• Ngā makariri.
• Maremare.
• Te kirika.
• He kare ā-roto o te mamae, o te whara rānei i tētahi wāhanga o te tinana, i te tinana katoa rānei.
• Te pupuhi i tētahi wāhi o te tinana.
• Te poto o te manawa.
• Te ruaki, te korere rānei.

He aha ngā pātai me pātai atu e au ki taku tākuta?

• Me haere ahau ki tētahi kaiwhakaora tinana hei whakapakari i te kaha o ngā uaua o taku tamaiti?
• He pānga taha anō kei ngā maimoatanga kua tohua mō ngā tohumate o taku tamaiti?
• Mena he kaikawe ahau i te ira kua whakarerekētia, kei te tūpono ahau ki te whānau mai i tētahi tamaiti me te `Ataxia-Telangiectasia (AT)`?

He tino uaua, he tino taumaha hoki te mārama ki te mate o tāu tamaiti i te `Ataxia-Telangiectasia (AT)` māu hei kaitiaki. Heoi, mā tāu tākuta koe e whakarato he mahere maimoatanga pai e hāngai ana ki ngā tohumate o tāu tamaiti. Ko te mea nui ko te hoatu i te aroha me te tautoko e hiahiatia ana e tāu tamaiti puta noa i tōna oranga. Kia tūpato hoki ki ngā tohumate hou e puta mai ana, kia tere te rongoā, ā, kia roa ake te ora o tāu tamaiti.

## Ngā mea nui hei maumahara (Karere hei kawe ki te kāinga)

He mate ira onge te Ataxia-Telangiectasia (AT) ka pā kino ki te tamaiti me tōna whānau. He mea noa te mataku me te manukanuka ina rongohia.

• He mea nui kia mōhio ki ngā tohu tōmua : Rapua he tohutohu hauora mēnā ka kite koe i tētahi panoni o te hikoi a tāu tamaiti, te taurite, te uaua ki te kōrero, te puta rānei o ngā ira whero rerekē i runga i te kiri/kanohi.
• Ahakoa kāore he rongoā mō tēnei, ka taea te whakahaere i ngā tohu : mā te maimoatanga tika me ngā ratonga tautoko ka āwhina i te whakapai ake i te kounga o te oranga o te tamaiti me te whakaroa i tōna roanga o te ora.
• Kia tiakina tō ārai mate : He nui ake te tūponotanga o ngā tamariki whai mate pāwera ki te mate `AT`. Nō reira, kia tūpato ki ngā tohu o te mate, ā, me rapu wawe i te rongoā.
• Kāore koe i te mokemoke : Ka taea e koe me tāu tamaiti te whiwhi tautoko e hiahiatia ana e koe mai i ngā tākuta, ngā kaitohutohu ira, me ngā rōpū tautoko.
• Ko te aroha me te tautoko ngā mea tino nui : Ko tō aroha, tō manawanui, me tō tautoko ngā mea tino nui mō tāu tamaiti i tēnei haerenga.

Ko tāku tumanako kua āwhina ēnei kōrero i a koe kia mārama ake ai ki tēnei āhuatanga uaua. Mēnā he pātai anō āu, kaua e mangere ki te kōrero ki te tākuta.

Ataxia -telangiectasia, AT, te mate Louis-Bar, ngā mate ira, te pūnaha io, te pūnaha ārai mate, ngā mate nekehanga, ngā mate onge, ngā mate tamariki