He tumanako hou mō te hunga whai mate Fabry: Me kōrero tātou mō te rongoā Galafold!

Mena kei a koe, kei tētahi rānei e mōhio ana koe, kua rongo pea koe i tētahi rongoā e kīia nei ko Galafold. Koinei te rongoā waha tuatahi, ā, ko ia anake mō te mate Fabry. Ko ētahi atu maimoatanga mō te mate Fabry, pērā i te whakaora whakakapinga whākōkī , ka hoatu mā te werohanga. Ko Galafold he momo whakaora "chaperone" e mahi ana i tētahi huarahi tino rerekē. Kāore e mahi mō ngā momo mate Fabry katoa. Heoi, he tino āwhina mō te hunga he rerekētanga ō rātou ira i roto i te ira e puta ai te mate.

He aha te mate Fabry? Me pēhea te mahi a Galafold?

He māmā noa iho, he mate ira onge te mate Fabry e tukuna iho ana mai i te mātua ki te tamaiti. Kei roto i te tinana o te hunga whai mate Fabry he whākōkī e kiia nei ko te alpha-galactosidase A (alpha-gal) . Engari kāore tēnei whākōkī e mahi tika ana. Nā te mea he whakarerekētanga ira kei roto i te ira e kī ana ki a ia kia hanga i tēnei whākōkī.

He whākōkī tino nui te Alpha-gal e kitea ana i roto i ngā pūtau maha o tō tātou tinana. Ko tana mahi matua he wawahi i tētahi matū ngako e kiia nei ko te GL-3 . Nō reira, ina kore e mahi tika tēnei whākōkī, ka tīmata te matū e kiia nei ko te GL-3 ki te kohikohi i roto i ngā pūtau o te tinana. I roto i te wā, ka taea e tēnei kohikohinga te whakararu nui i ngā wāhanga nui o te tinana, pērā i ngā whatukuhu , te ngākau , te kiri, te roro, me te pūnaha io .

E rua ngā momo matua o te mate Fabry.

I te pakeketanga o te hunga e pāngia ana e te mate Fabry, ka haere tonu te kohikohi o te GL-3 i roto i ō rātou pūtau. Ka arahi pea tēnei ki ngā raruraru hauora nui i roto i te wā. He maha ngā tāngata ka pāngia e ngā raruraru tākihi, ā, ka mutu, ka arahi pea tēnei ki te ngoikore o te tākihi . Ka taea hoki e te mate te kino i te ngākau me ngā oko toto , ka piki ake te mōrearea o te mate manawa, te whiu rānei.

He tokomaha ngā tāngata e tukuna ana ki te Whakaora Whakakapinga Whākōkī (ERT) mō tēnei. Ko te werohanga o tētahi whākōkī e mahi pai ana i hangaia i waho ki roto i te tinana. Kātahi ka taea e te tinana te whakamahi i taua whākōkī hei wawahi i te GL-3.

Heoi, he rerekē rawa te mahi a Galafold. Ko te matū hohe o Galafold he rongoā e kiia nei ko te `migalastat`. Ko tāna mahi he piri ki te whākōkī `alpha-gal` kei roto i te tinana o te tūroro, engari he kore pumau. Whakaarohia he paku 'pupuhi' te whākōkī `alpha-gal` i roto i tō tinana, he 'kore pumau'. Nō reira, kāore e taea te mahi tika. Ko tā te rongoā e kiia nei ko Galafold, he rite ki te hoa, ka piri ki tēnei whākōkī 'pupuhi' ka 'whakaū' i a ia. Kātahi ka taea e taua whākōkī te mahi tika i tana mahi. Koinei te mea e kiia nei e mātou ko te "Chaperone Therapy" .

Ka taea e te katoa te whakamahi i a Galafold?

Kāo. Ka taea anake te whakamahi i a Galafold mō te hunga he momo whakarerekētanga ira motuhake kei roto i te ira e hanga ana i te whākōkī 'alpha-gal'. Ka taea tonu e te whākōkī 'alpha-gal' i puta mai i tēnei whakarerekētanga te mahi, engari he tino koretake rawa ki te mahi tika. Ka piri a Galafold ki taua whākōkī, ka whakau, ka meinga kia mahi.

Kāore ētahi o ngā tūroro Fabry e whakaputa i te whākōkī 'alpha-gal', kāore rānei te whākōkī e puta ana e mahi ana. Kāore a Galafold e whai hua ki ēnei tāngata. Nā te mea kāore he whākōkī i roto i te tinana hei whakaū i a ia. He pai ake te rongoā whakakapinga whākōkī (ERT) mō rātou.

Nō reira, i mua i te whakahaunga a tō tākuta i a Galafold, ka whakahaerehia e ia he whakamātautau ira motuhake hei whakatau i te momo whakarerekētanga ira kei a koe. Mā tēnei ka whakatau mēnā ka whai hua tēnei rongoā ki a koe, kāore rānei.

Me pēhea te whakamahi i tēnei rongoā?

He mea tino nui tēnei wāhanga nā te mea kia whiwhi ai koe i ngā hua katoa o te rongoā, me whakamahi tika koe.

• Me pēhea te tango: He kāpūru a Galafold. Ka tangohia i ia rā tuarua , arā, i ia rā tuarua.
• Te wā o te rā: He mea tino nui kia tangohia i te wā kotahi i ia rā. Hei tauira, ki te mea i tangohia e koe i te 8 i te ata i te rā tuatahi, me tango anō hoki i te 8 i te ata i te rā e whai ake nei.
• Ko te mea nui: Me tango tēnei rongoā i runga i te puku kau . Arā, kaua e kai i tetahi mea mō ngā haora e 2 i mua, i ngā haora e 2 rānei i muri i te tangohanga o te rongoā.
• Tētahi atu mea nui: Kaua hoki e inu i tētahi mea kei roto te kawheine (pēnei i te tī, te kawhe, ētahi inu ngāwari) mō ngā hāora e 2 i mua atu me ngā hāora e 2 i muri i te tango i te pire. I tēnei wā, ka taea e koe te inu wai, inu hua kore-muka, inu waro kore-kawheine rānei.

Hei āwhina i a koe kia kore ai e pōhēhē ō rā, ka tae mai tēnei rongoā i roto i tētahi kete motuhake. Ko tōna ingoa he 'kāri mirumiru'. He tikanga tōna hei tohu i ngā rā. Ka tangohia e koe te kāri mirumiru i te rā ka tangohia e koe te rongoā, ā, i te rā kāore koe e tango i te rongoā, ka tangohia e koe te porowhita kau i tōna wāhi. Mā tēnei, ka taea e koe te tohu i te kāri i ia rā, ā, kāore e ngaro i a koe te rā e hiahia ana koe ki te tango i te rongoā.

He pānga taha, he raruraru rānei kei te pā ki ētahi atu rongoā?

Tērā pea ka piki ake te mōrearea o ētahi tāngata e tango ana i a Galafold ki ngā mate manawa (te makariri, te mamae o te korokoro) me ngā mate mimi. Ko te huarahi pai ki te ārai i ngā mate ko te horoi pinepine i ō ringaringa, te noho tawhiti atu i te hunga mate, me te inu nui i te wai.

Hei tāpiritanga, e ai ki tā tātou i kōrero ai i mua ake nei, ko te kawheineNō reira, kāore pea a Galafold e whai hua. Nō reira, kia tūpato ki ngā mea kei roto he kawheine. He mea nui anō hoki kia whakamōhio atu koe ki tō tākuta mō ētahi atu rongoā, huaora, rongoā tuku iho rānei e tangohia ana e koe.