He uaua ki tāu tamaiti te hikoi? Me ako tātou mō te Friedreich's Ataxia!

Kei te wiriwiri haere tāu tamaiti i a ia e hikoi ana, e oma ana rānei? Kua kite koe i tētahi wā he uaua ki a ia te pupuri i te taurite? He mea noa rānei te mataku me te manukanuka ina kite koe i ēnei tohu i roto i tētahi tamaiti nohinohi? I tēnei rā ka kōrero tātou mō tētahi āhuatanga ira onge engari he mea nui rawa atu me mōhio koe i ēnei wā. Ka kiia tēnei ko te ataxia a Friedreich, ko te `(FA)` rānei ko te `(FRDA)` rānei.

He aha te Ataxia a Friedreich?

He whakarāpopototanga noa iho, ko te Ataxia a Friedreich he mate ira e tukuna iho ana i ia whakatipuranga ki ia whakatipuranga. Mā tēnei ka heke haere te pūnaha io, ka raru ai te nekehanga o te tinana. Heoi anō, ka heke te kaha ki te whakahaere i ō tātou uaua. Koinei te mea e kiia nei e tātou ko te "Ataxia." Ka kino haere tēnei mate i roto i te wā.

I te nuinga o te wā, ka tīmata ēnei tohu i te wā taitamariki. Arā, i te wā tamarikitanga. Engari ehara i te mea ko te pūnaha io anake tēnei e pā ana. Ka pā hoki ki ngā wāhi pēnei i tō pūnaha angaanga, te ngākau, me te repeure. Engari ko te rongo pai, kāore e pā ki ō pūkenga whakaaro, arā, ō pūkenga hinengaro (Ngā Mahi Hinengaro).

Ko te ataxia a Friedreich tētahi o ngā momo ataxia tuku iho e tino kitea ana, engari he mate tino onge noa iho. I te Hononga o Amerika, tata ki te kotahi i roto i te 50,000 tāngata e pāngia ana. I te ao whānui, tata ki te kotahi i roto i te 40,000 tāngata e pāngia ana. I kitea tuatahitia te mate nei, ā, i whakaahuatia hoki i te tau 1863 e tētahi tākuta ko Nicholas Friedreich tōna ingoa. Koia te take i tapaina ai ki tōna ingoa.

He mea noa te mataku ina tīmata te uaua o te hikoi a tāu tamaiti, ina ngaro rānei tōna taurite. Tērā pea kei te whakaaro koe, "Kia pēhea te roa o tēnei? He aha te pānga o tēnei ki te oranga o taku tamaiti?" Ko te mea pai ko te toro atu ki tētahi tākuta he tohunga ki ēnei āhuatanga. Pērā ai, ka taea e koe te whiwhi whakautu ki ō pātai me te whiwhi i te tautoko e hiahiatia ana e koe i tēnei haerenga.

He rerekē ngā momo o te ataxia a Friedreich (FA)?

Ae, ko te ataxia "noa" a Friedreich ka puta i mua i te 25 tau te pakeke. Heoi, e rua atu ngā momo rerekē. Ko ēnei te 15% o ngā take FA katoa:

• Te ataxia a Friedreich tīmatanga-mutunga (LOFA): I tēnei momo, ka puta ngā tohu i muri i te 25 tau te pakeke.
• Te ataxia a Friedreich (VLOFA) tino tīmatanga: I konei, ka tīmata ngā tohu i muri i te 40 tau te pakeke.

He kino ake ēnei momo e rua, arā, ko te `(LOFA)` me te `(VLOFA)` i te `(FA)` noa.

He aha ngā tohu o tēnei mate?

Ko ngā tohu o te ataxia a Friedreich ka tīmata i waenga i te 5 me te 15 tau te pakeke. Heoi, ka pāngia ētahi tāngata e ngā tohu i te 2 tau te pakeke, ko ētahi i te 50 tau te pakeke.

Ngā tohu tuatahi e kitea ana

Ko ngā tohu tuatahi o te pūnaha io ko te uaua ki te tū, ki te hikoi, me ngā raruraru taurite (e kiia nei ko te Gait Ataxia). I roto i te wā, ka kino haere ēnei tohu, ā, ka puta pea he tohu hou.

Ko ngā tohu matua e pā ana ki te pūnaha io o te `(FA)` ko:

• Te ngoikore o te uaua.
• Te ngaronga o te taurite me te taunga o te tinana (Ataxia).
• Te ngaronga o te pānga o te pā (e kiia ana tēnei ko te `(Peripheral Neuropathy)`).
• Te ngoikore o ngā uruparenga (Hyporeflexia).

Ka taea e koe te wheako i ēnei āhuatanga i konei:

• He uaua ki te tū, ki te hikoi, me te oma.
• Ko te Chorea te wiri me te ngau kino o ngā peka me ngā waewae.
• He ngaronga o te rongo e tīmata ana i ngā waewae ka horapa ki ngā ringa me te puku.
• Te ngenge tonu.
• I te wā e kōrero ana, ka pōturi te kōrero, ā, ka pōturi te reo (Dysarthria).
• Te uaua ki te horomi kai (Dysphagia).
• Ko te spasticity he kare ā-roto o te pakari o te uaua.
• Te ngaronga o te mōhio ki te tūnga o te tinana (Te ngaronga o te `(Proprioception)`).
• Te Ngaronga o te Whakarongo.
• Te Ngaronga o te Tirohanga.
• Te scoliosis me/ranei ngā hapa o te waewae. Hei tauira, te hurihanga o ngā waewae ki roto, ngā āwhata teitei, me ngā waewae poto (Pes Cavus).

Whakaarohia, he tamaiti e waru tau te pakeke, ko Sadun tōna ingoa. He pai ia ki te oma me te takaro i mua. Engari mō ētahi wā kua tūtuki ia i a ia e hikoi ana, me te mea kāore e taea e ia te pupuri i tōna taurite. Ahakoa i te takaro i te kura, ka hinga ia ina oma ia me ōna hoa. I te tīmatanga, i whakaaro ōna mātua he mea iti noa iho. Engari i te wā i whakaaturia ai ia ki te tākuta ka mōhio rātou ki tēnei `(FA)`.

Ētahi atu raruraru ka puta mai i te ataxia a Friedreich (FA)

Tata ki te 75% o te hunga whai FA ka pāngia pea e te mate manawa. Ko ngā mea tino kitea ko:

Ngā pānga ki te ngākau

• Te Neuropati Manawa Aunoa.
• Te mate ngakau hypertrophic.
• Ngā rerekētanga o te pā o te ngakau (Arrhythmia).

Hei tāpiritanga, ko ētahi atu raruraru ngākau ka puta mai i te `(FA)` ko:

• Te mate ngakau.
• Te whara o te uaua o te ngākau (Myocardial Fibrosis).
• Te whakanui ake i te ngākau (Cardiomegaly).
• Te ngoikore o te ngākau.
• Te tere o te manawa o te ngakau (Tachycardia).
• Te pupuhi o te atrium.
• Poraka Manawa.

Te tūponotanga o te whakawhanake i te mate huka

Ka taea e te FA te kino i ngā pūtau i roto i tō repeure e whakaputa ana i te homoni insulin. He mea nui te insulin mō te whakahaere i ngā taumata huka toto. Nō reira, ki te kore e ranea te insulin, ka piki ake ngā taumata huka toto, ka puta ai te hyperglycemia. Ka taea e tēnei te arahi ki te mate huka. Tata ki te 30% o te hunga whai FA ka pāngia e te mate huka.

He aha te take mō tēnei? He pānga ira tangata?

Ae, he mate ira tūturu te ataxia a Friedreich. Nā te huringa, te whakarerekētanga rānei, i roto i te ira e kiia nei ko te "FXN". Kei roto i tēnei ira te waehere mō te hanga i tētahi pūmua tino nui i roto i tō tātou tinana, ko te "Frataxin" .

Ko te Frataxin he pūmua e mahi ana i roto i ngā mitochondria.

He pūmua te Frataxin e kitea ana i roto i ngā mitochondria , arā, ngā wāhanga whakaputa pūngao o ō tātou pūtau. Ahakoa kāore anō kia tino mārama ngā kaipūtaiao ki tana mahi, kua kitea e rātou he mea nui te frataxin mō te mahi noa o ngā mitochondria. Ko te whakarerekētanga ira e puta ai te frataxin (FA) ka aukati katoa i te hanga o te pūmua frataxin.

Ina kore e ranea te frataxin, kāore e taea e ētahi o ngā pūtau o tō tātou tinana te whakaputa pūngao tika. Waihoki, ka tīmata te kohikohi i ngā hua paitini. Ka kiia tēnei ko te ahotea waikura . Ka kino tēnei i ō tātou pūtau.

Ko ngā pūtau i ngā wāhi e whai ake nei ka tino pāngia e te `(FA)`:

• Ngā io ā-taha.
• Taura Tuaiwi.
• Te roro, inā koa te cerebellum.
• Uaua o te ngākau.

He Tauira Tuku Iho Ā-Iwi Whaiaro tēnei.

Ka puta noa te ataxia a Friedreich mēnā ka riro i a koe ngā tārua whakarerekētanga e rua o te ira (FXN), mai i tō whaea me tō pāpā. Ka kiia tēnei e ngā tākuta he tauira tuku iho autosomal recessive .

Ko ngā mātua e rua o te tangata e pangia ana e tēnei mate, kotahi te tārua o te ira kua whakarerekētia (arā, he kawe mate rāua). Engari kāore e kitea he tohu i te nuinga o te wā. Whakaarohia, mēnā he kawe mate ngā mātua e rua, ina whānau he tamaiti tā rāua:

• E 25% te tūponotanga ka pāngia te tamaiti e te `(FA)` (mēnā ka tukuna iho ngā ira whakarerekē e rua).
• E 50% te tūponotanga ka noho te tamaiti hei kaikawe (mēnā ka tukuna iho tētahi ira kua whakarerekētia).
• E 25% te tūponotanga ka ora te tamaiti, engari kāore he ira kua whakarerekētia e riro mai i a ia.

Me pēhea te tautuhi tika i tēnei mate? (Tautuhinga)

Tuatahi, ka pātai te tākuta o tāu tamaiti mō ngā tohu me te hītori hauora o te whānau. Kātahi ka whakahaerehia he whakamātautau tinana katoa me te whakamātautau io.

Muri iho, ka tūtohu pea te tākuta i ētahi whakamātautau rerekē.Ko te whakamātautau ira te whakamātautau matua hei whakaū i te ataxia a Friedreich. Hei tāpiri, ka taea te mahi i ēnei whakamātautau hei āwhina i te tautuhi mate me/ranei hei tirotiro i ngā wāhanga o te tinana ka pāngia e te (FA):

• MRI, CT scan rānei: Ka taea e ēnei te tango pikitia o tō roro me tō taurakira. Ka taea e ēnei te āwhina i tō tākuta ki te whakakore i ētahi atu mate pūnaha io.
• Te Electromyogram (EMG) me ngā Rangahau Whakahaere Io: Ka aromatawaihia e ēnei whakamātautau te mahi a ō uaua me ō io.
• Ko te hiko-cardiogram (ECG/EKG): Mā tēnei ka whakaatuhia te mahi hiko o tō ngākau, arā, te tauira o te pā o te ngakau.
• Echocardiogram: Ka puta he pikitia o ngā nekehanga o tō ngākau.
• Ngā whakamātautau toto: Tērā pea ka mahia ētahi whakamātautau toto hei tirotiro i ngā mea pēnei i te taumata huka toto me ngā taumata huaora E.

He aha ngā maimoatanga mō te ataxia a Friedreich (FA)?

He tino rongo pai tēnei! I te tau 2023, i whakaaetia e te US Food and Drug Administration (FDA) te rongoā tuatahi mō te ataxia a Friedreich. Ko Omaveloxolone (SKYCLARYS™) tōna ingoa. Ka taea te whakamahi i te hunga 16 tau te pakeke, neke atu rānei. Kua whakaatuhia e ngā rangahau ka taea e tēnei rongoā te whakapai ake i te mahi a ngā io me te āhua o te "Ataxia" ki tētahi taumata. Kei te mahia tonutia he rangahau mō ngā pānga roa o tēnei rongoā.

Heoi, ehara a Omaveloxolone i te rongoā mō te FA. Haunga tēnei rongoā, ko te whāinga matua o te maimoatanga he whakahaere i ngā tohu me ngā raruraru o te FA, me te āwhina i a koe kia ora pai ai. Ko ētahi o aua maimoatanga ko:

• Whakaora Tinana: Kia mau tonu te mahi a ngā uaua mō te wā roa, kia pai ake te taurite, te taurite, me te kaha.
• Whakaora Kōrero: Whakapai ake i te kōrero me te horomitanga mā te whakangungu anō i ngā uaua o te arero me te mata.
• Ngā whītiki waewae, ngā pokanga rānei mō ngā raruraru e pā ana ki te wheua pērā i te hē o te waewae me te scoliosis.
• Mena he mate ngakau tōu, me tango rongoā mō rātou.
• Ki te mea he mate huka tōu, me tango he rongoā mōna.
• Ngā maimoatanga whakahaere mamae.
• Ngā rongoā paturopi hei ārai, hei rongoā rānei i ngā mate urutā.
• Ngā taputapu hei āwhina i te hikoi, hei tauira, ngā hū motuhake, ngā tokotoko, ngā tūru wīra.
• He maimoatanga te whakawhitinga ngākau mō te FA ngawari, engari mēnā he nui te cardiomyopathy.

Hei whakahaere i te FA, me āwhina koe e tētahi tīma tākuta maha-mātauranga. Kei roto pea i tēnei tīma:

• Ngā tohunga roro.
• Ngā tākuta ngakau.
• Ngā Kairangahau Ira Hauora me te Matū Koiora.
• Ko ngā endocrinologist he tākuta e tohunga ana ki te pūnaha endocrine.
• Ngā kaiwhakaora tinana.
• Ngā tohunga mate kōrero me te reo.
• Ngā kaiwhakaora mahi.
• Ngā taote pokanga wheua.
• Ngā tohunga hinengaro.

He rerekē te pānga o te ataxia a Friedreich ki te katoa, ā, he rerekē hoki te tere o te whanaketanga. Mā te tīma hauora o tāu tamaiti e whakawhanake he mahere maimoatanga e hāngai ana ki ngā tohumate o tāu tamaiti, ā, ka taea te whakarerekē i a ia e tipu ana.

He ara hei ārai i tēnei?

Nā te mea he panonitanga ira te take o te ataxia a Friedreich, kāore he mea e taea e koe te mahi hei ārai i tēnei. Heoi, ki te mea kei te whakaaro koe ki te whānau tamariki, ka taea e koe te kōrero ki tō tākuta, ki tētahi kaitohutohu ira rānei mō te whakamātautau hei rapu i tō mōrearea ki te whānau tamariki me tētahi mate ira pēnei i te ataxia a Friedreich.

He aha te āhua o te mate mō te tangata e pāngia ana e te ataxia a Friedreich (FA)?

Ko te mea nui kia maumahara, ehara i te mea ko te katoa e pāngia ana e te mate ataxia a Friedreich ka pāngia i te ara kotahi. Kāore he tangata e taea te kī atu ki a koe he aha te āhua o tō matapae. Ko te mea pai rawa atu ka taea e koe te mahi hei whakarite mō te heke mai ko te kōrero ki ngā tohunga e rangahau ana, e rongoā ana hoki i te mate ataxia a Friedreich.

Mō te roanga o te ora

Nā te mea he mate kino haere te ataxia a Friedreich i te roanga o te wā, tera pea he poto ake te roanga o te oranga o te hunga whai `(FA)` i te roanga o te oranga o te taupori whānui. Ko te tino take o te mate o te hunga whai `(FA)` he mate e kiia nei ko te `Hypertrophic Cardiomyopathy`.

Engari kāore te FA e pā ki te katoa i te rite. Ko te nuinga o te hunga whai FA e ora ana tae noa ki te 30 tau te pakeke. Ko ētahi e ora ana tae noa ki te 60 tau te pakeke, neke atu rānei.

Āhea koe me rapu tohutohu hauora?

Mena kei a koe, kei tāu tamaiti rānei te ataxia a Friedreich, me toro atu koe ki tō tīma hauora i ia wā, i ia wā, hei rongoā, hei aroturuki hoki i ngā tohu.

He mea noa te pōuri ina rongo koe kei te pāngia tō tamaiti e te Friedreich's Ataxia (FA). Engari mā tō rōpū hauora e whakawhanake he mahere maimoatanga e hāngai ana ki ngā tohumate o tō tamaiti. Ko te mea nui ko te hoatu i te aroha me te tautoko e hiahiatia ana e tō tamaiti i roto i tōna oranga, me te mōhio ki ngā tohumate hou ka puta mai. Kaua e wareware ki te tiaki i a koe anō hoki. Ki te tika, uru atu ki tētahi rōpū tautoko, rapu āwhina rānei i tētahi kaiārahi mēnā kei te pōuri koe.

Kia maumahara hei whakarāpopototanga (Karere hei tango ki te kāinga)

Ko te Ataxia a Friedreich (FA) he mate ira tuku iho onge e pā nui ana ki te pūnaha io, ka puta ai ngā raruraru nekehanga (ina koa ko te ataxia - te ngaronga o te taurite).

• Take: Nā te whakarerekētanga o te ira e kiia nei ko te ``(FXN)`` ka heke te nui o te pūmua ``Frataxin``.
• Ngā Āhuatanga:Tērā pea ka pā mai te uaua ki te hikoi, te ngaro o te taurite, te ngoikore o ngā uaua, te uaua ki te kōrero, te mate manawa, me te mate huka.
• Tātaritanga: Mā te whakamātautau ira te nuinga.
• Maimoatanga: Te whakahaere i ngā tohumate, te whakaora tinana, te whakaora kōrero, me te rongoā hou kua whakaaetia ko Omaveloxolone.
• He mea nui: He mea nui kia wawe te tautuhi i te mate, kia rapu tautoko mai i tētahi tīma hauora motuhake, kia whiwhi hoki i te aroha me te tautoko a te whānau. He mea nui kia kaua e mataku, engari kia mahi i runga i ngā mōhiohio tika me ngā tohutohu hauora.

Te Ataxia a Friedreich, FA, ngā mate ira, te pūnaha io, ngā mate nekehanga, te ataxia