Kia tūpato tātou ki te Mate Krabbe, he mate pūnaha io onge i roto i ngā tamariki

He uaua ki te whakapuaki i te pouri me te manukanuka o te whaea, o te pāpā rānei ina pāngia tā rātou tamaiti e te mate, kāore? Ina koa he mate onge, he uaua hoki te āhua, he nui ake te taumahatanga. I tēnei rā ka kōrero tātou mō tētahi mate onge engari he mea nui. Ko te ingoa o tēnei ko te Mate Krabbe. Ka karangatia hoki e ētahi ko te Globoid Cell Leukodystrophy. Ahakoa he roa te ingoa, kia māmā noa iho.

He aha te mate Krabbe?

He kupu ngāwari noa iho, he mate ira onge te mate Krabbe e pā ana ki te pūnaha io. Ko tōna whakahua "kra-bah".

Nō roto tēnei mate i tētahi rōpū mate e kiia nei ko te Leukodystrophies. I roto i ēnei mate , ka ngaro te hipoki tiaki e kiia nei ko te Myelin i roto i tō tātou pūnaha io (e kiia ana tēnei ko te Demyelination). Whakaarohia ngā pūtau io i roto i tō tātou tinana he waea hiko. He hipoki tiaki kei te taha o ēnei waea, he rite ki te takotoranga kirihou kei runga i te waea. Koinei te mea e kiia nei ko te Myelin. Ko tēnei takotoranga myelin te mea e āhei ai ngā karere io kia tere me te tika te haere. I roto i te mate Krabbe, ka pakaru tēnei takotoranga myelin.

I roto anō i tēnei mate, ka kitea tētahi momo pūtau rerekē i roto i te roro e kiia nei ko ngā pūtau porowhita. He pūtau nunui ēnei, he maha ngā pūtake o te io.

I te whakangaromanga o te pūkahu myelin, ka tīmata te mate o ngā pūtau roro. Ka puta haere ngā raruraru ka whakararu i te mahi a te pūnaha io. Hei tauira:

• Hauātanga Hinengaro
• Pararutiki
• Te ngaronga o te rongo, te turi rānei

He mate pirau te mate Krabbe e kino haere ana i te roanga o te wā. Ko te mea pouri, he maha ngā wā ka mate.

I tapaina te mate nei i muri i a Knud Krabbe, he tākuta roro nō Tenemāka.

Ko wai te hunga e tino pāngia ana e te mate Krabbe?

Tata ki te 90% o te hunga e pāngia ana e te mate Krabbe ka tīmata te whakawhanake i ngā tohu i waenga i te 1 me te 7 marama te pakeke. Ka kiia tēnei ko te momo pēpi o te mate Krabbe. I ētahi wā, ka tīmata te mate i muri i te 18 marama te pakeke, i te wā taiohi, i te pakeketanga rānei. Ka kiia tēnei ko te momo tīmatanga mutunga o te mate Krabbe.

Ko te mea nui, ko te mate Krabbe he mate e tukuna iho ana mai i ngā mātua ki ngā tamariki mā roto i ngā ira.

He pēhea te noa o tēnei mate?

He mate tino onge te mate Krabbe. Heoi, he rerekē te auau o tōna putanga mai i ngā wāhi rerekē o te ao. E ai ki ngā kairangahau, ka pā pea te mate ki te kotahi i roto i te 100,000 whānautanga ora i Ūropi, me te kotahi i roto i te 250,000 whānautanga ora i te Hononga o Amerika.

Heoi, he nui ake te kitea o te mate i roto i ētahi hapori motuhake o Iharaira, ā, e 6 pea te auau mō ia 1,000 tāngata.

He aha ngā tohu o te mate Krabbe?

Ko te kaha o ngā tohumate o te mate Krabbe e whakawhirinaki ana ki te tau ka tīmata ai ngā tohumate. Ka tere te kino haere o te momo mate Krabbe i roto i ngā pēpi, ā, he maha ngā wā ka mate i mua i te 2 tau te pakeke. He ngawari ake te momo mate Krabbe e puta wawe mai ana, ā, he roa ake te roanga o te oranga.

Nga tohu o te Infantile Krabbe mate

E toru ngā wāhanga matua o te mate Krabbe i te wā kōhungahunga:

Wāhanga 1:

Ko te pēpi e pangia ana e te mate Krabbe ka tipu pai, ka whanake pai tae noa ki te 4 ki te 6 marama te pakeke. Koinei te wā ka tīmata ai ngā tohu. Kei roto i ēnei:

• Te koretake o te manawa, te riri pinepine
• Ruaki
• Te uaua ki te inu miraka
• Te Kore e Tupu
• He kirika maha, kāore he tohu o te mate
• ngoikore o te uaua

Tērā pea ka pāngia te pēpi e te mate a Krabbe e te pā, te tangi, me te mārama. Ina tae mai tētahi momo whakaohooho, ka pāngia pea te tinana e te kare ā-roto e pakari ana (Tonic Spasms). Whakaarohia, ka ohorere te pēpi, ka pakari i te tangi iti noa iho.

Wāhanga 2:

I te wāhanga tuarua, ka kitea pea e koe ngā tohu penei:

• Ngā huringa tirohanga
• Te ngoikore o te io whatu - Ko te tikanga tēnei ko te ngoikore o te io whatu.
• Tūnga Rerekē - Mā te kikī o ngā uaua o te kaki, te tinana, me ngā waewae ka piko whakamuri mai i te kaki ki ngā rekereke (Opisthotonic Posturing). He rite ki te piko whakamuri pērā i te kopere.
• Ngā āhuatanga rite ki te hopuhopu
• Te whakaroa i te whanaketanga hinengaro me te whanaketanga tinana
• Te kore e taea te mahi anō i ngā mea i akohia i mua (hei tauira, te menemene, te hiki ake i tō mahunga).

Wāhanga 3:

I te tuatoru o ngā wāhanga, ka kitea ēnei tohu:

• Te ngaronga katoa o te tirohanga (te matapo)
• Te ngaronga katoa o te rongo (turi)
• He tū āhua rerekē o te tinana - he tū e tika ana ngā ringa me ngā waewae, e anga ana ngā maihao ki raro, ā, e tōia ana te māhunga me te kaki ki muri (he tū āhua ngoikore te hinengaro)
• Te hekenga o te kaha ki te neke haere.

Tērā pea ka pōuri koe, ka mataku hoki i te pānui i ēnei kōrero. Engari he mea tino nui te mōhio ki ēnei mea mō te tautuhi wawe i te mate me te whiwhi i te āwhina e hiahiatia ana e koe.

Ngā Tohu o te Mate Krabbe o te Tīmatanga Mutunga

Ka tīmata te mate Krabbe o te pēpi i te mutunga o te wā i waenga i te 13 me te 36 marama te pakeke. Ka puta haere ngā tohu penei:

• Te riri
• Ngā huringa tirohanga
• Te haere rerekē
• Ngā mate hopuhopu
• Ngā Wāhanga Apnea
• Te kore pumau o te pāmahana tinana

I tēnei wā, ko te tau toharite o te matenga he ono tau.

Ko ngā tohu o te mate Krabbe tīmatanga-taiohi ko:

• Ngā huringa tirohanga
• Ngā wiri
• Ngā rerekētanga o te haere
• Te kore e taea te whakahaere i ngā nekehanga e hiahiatia ana me te pakari haere o te uaua
• Mate Aro-kore/Mate Mahi-Nui (ADHD)

He rerekē te tere o te kino haere o tēnei momo mate Krabbe, engari ko te tikanga ka mate i roto i ngā tau 10 o te tautuhi mate.

Ngā tohu o te mate Krabbe o te tīmatanga o muri :

• Te werawera i roto i ngā ringa me ngā waewae
• Ngā huringa o te wairua me te whanonga
• Te tūpato i te wā e hikoi ana, te ngaro o te taurite `(Ataxia)`
• Te pakari o te uaua (Te koretake o te uaua)
• Ngā huringa tirohanga me te matapo
• Te wiri
• Te ngoikore o te whakarongo me te turi

He tokomaha te hunga e pāngia ana e te mate Krabbe i te pakeketanga ka ngoikore te hinengaro me te tinana.

He aha te take o te mate Krabbe?

He mate te mate Krabbe e tukuna iho ana i ngā mātua ki ngā tamariki mā te ira. Ka tukuna iho i roto i te tauira autosomal recessive. Ko te tikanga me whai whakarerekētanga ngā tārua e rua o te ira i roto i ia pūtau o te tamaiti. Kotahi te tārua o te ira kua whakarerekētia i roto i ia mātua o te tangata whai mate nei. Heoi, kāore ngā mātua e whakaatu i ngā tohu. He kaikawe noa iho rātou i te mate.

Ko te mate Krabbe i puta mai i ngā whakarerekētanga o te ira `GALC`. Ko te hua o tēnei, kāore te tinana e whakaputa i tētahi whākōkī e kiia nei ko `Galactocerebrosidase`. He mea nui tēnei whākōkī kia taea ai e te tinana te whakapūmua i tētahi matū e kiia nei ko `Galactocerebroside`. He wāhanga nui tēnei galactocerebroside o te myelin (te uhi tiaki e karapoti ana i ngā io).

Ina ngaro tēnei whākōkī nui, ka pakaru te pūkahu myelin puta noa i te pūnaha io matua (demyelination). Koinei te take e puta ai ngā tohu neurological o te mate Krabbe.

Me pēhea te tautuhi i te mate Krabbe?

I ētahi whenua o te Hononga o Amerika, kei roto i te tikanga tirotiro pēpi hou te whakamātautau mō te mate Krabbe. He whakamātautau toto tēnei.

Ko tētahi atu huarahi nui hei tātaritanga i te mate Krabbe ko ngā whakamātautau whakaahua. Ina koa, ka taea e te matawai MRI (Magnetic Resonance Imaging) te kite i ngā huringa o te roro o te tamaiti e tohu ana i te mate Krabbe. He tino whai hua te MRI ki te kite i ngā whara roro i roto i te mate Krabbe. Ka taea hoki e ēnei whakamātautau te āwhina i te tātaritanga i te mate i te tamarikitanga me te pakeketanga.

Mena kua tāpaetia tāu tamaiti ki te mate Krabbe, tirohia te nui o tōna ngoikore ki te whakarongo me te tirohanga.Tērā pea ka hiahiatia he Aromatawai Whakarongo me te Whakamātautau Kanohi. Mā tēnei ka āwhina ki te whakatau i te momo Āwhina Whakarongo me te Āwhina Tirohanga e hiahiatia ana e tāu tamaiti.

Mena kua tāpaetia tō tamaiti ki te mate Krabbe, tera pea ka tūtohu tō tākuta kia whai koe i te tohutohu me te whakamātautau ira hei aromatawai i tō tupono ki te whānau mai i tētahi atu tamaiti. Tērā pea ka tūtohu anō hoki rātou kia whakamātauria ētahi atu mema o te whānau kia kitea ai mēnā he kawe ira rerekē rātou.

He aha te rongoā mō te mate Krabbe?

Engari, kāore anō kia kitea he rongoā tuturu mō te mate a Krabbe. Ā, ko te mutunga iho he mate.

Heoi anō, kotahi te maimoatanga ka taea te whakahaere i te kino haere o te mate Krabbe: he whakawhitinga pūtau take hematopoietic (HSCT).

Ka whakakapia ngā pūtau kore hauora o te tinana e te whakawhitinga pūtau take ki ngā pūtau hauora. Ko ngā pūtau take hematopoietic he pūtau koretake ka taea te whanake hei momo pūtau toto katoa, tae atu ki ngā pūtau toto mā, ngā pūtau toto whero, me ngā pereti toto.

I roto i te HSCT, ka whakatōkia ngā pūtau take toto mai i tētahi kaituku hauora ki tētahi tamaiti e pangia ana e te mate Krabbe. Mā tēnei ka āwhina i te tamaiti ki te whakarato i ngā pūtau hauora me te mahi pai a te whākōkī GALC i roto i te roro. Heoi, he tino whai hua te HSCT ina hoatu i mua i te puta mai o ngā tohu.

Kei te rapu tonu ngā kairangahau i ngā maimoatanga pai ake mō te mate Krabbe. Nā te mea kāore anō kia kitea he rongoā i tēnei wā, ā, ka kino haere te mate i te roanga o te wā, ko te maimoatanga matua ko te tiaki tautoko . Kei roto pea i tēnei ko:

• Ngā rongoā whakangāwari uaua mō te pēhanga uaua
• Ngā Rongoā Ārai i te Mate Pūngāwerewere hei Whakahaere i ngā Mate Pūngāwerewere
• Te Whakaora Tinana hei Whakanui i te Nekenekehanga
• Te Whakaora Mahi mō ngā Tamariki Pakeke me ngā Pakeke
• Mena he uaua ki te horomi, whāngaihia mā te ngongo

He aha te matapae mō te mate Krabbe?

He kino te matapae mō te mate Krabbe. Ko te tikanga ka mate. Heoi, he rerekē te roa o te ora i runga i te tau ka tīmata ai ngā tohu.

Ko te roanga o te oranga mō ngā tamariki e pāngia ana e te mate Krabbe i te wā pēpi he tata ki te 13 marama. Ko te nuinga o ngā tamariki e pāngia ana e te mate i te wā tōmuri ka mate i roto i ngā tau e rua i muri i te tīmatanga o ngā tohu.

Ka rerekē te tere o te whanaketanga me te roanga o te ora o te mate Krabbe, e tīmata ana i te tamarikitanga me te pakeketanga.

Ko te mate i te mate Krabbe ka puta i te ngoikore o te manawa nā te ngoikore o te uaua, te mate pāwera rānei nā te kai/wai e uru ana ki roto i ngā pukahukahu (aspiration).

Ka taea te ārai i te mate Krabbe?

Nā te mea he mate tuku iho te mate Krabbe, kāore he mea e taea e tātou te mahi hei ārai i tēnei.

Heoi, ki te mea kei te āwangawanga koe mō te tūponotanga o te tuku iho i te mate Krabbe, i ētahi atu mate ira rānei i mua i tō whakamātau ki te whānau tamariki, kōrero ki tētahi kaiwhakarato hauora mō te tohutohu ira.

Āhea te wā me kite taku tamaiti me te mate Krabbe i te tākuta?

Me toro atu tāu tamaiti ki tā rātou tīma hauora i ia wā, i ia wā, hei aroturuki i ōna tohu, hei aroturuki i tōna ahunga whakamua, hei whakarerekē hoki i tana mahere tiaki tautoko ina hiahiatia. Mēnā ka puta he tohu hou ki tāu tamaiti, me whakamōhio tonu atu ki tō tākuta.

He mate pūnaha io onge, he mate tuku iho te mate Krabbe. He ohorere, he taumaha hoki te mōhio kei te pāngia tāu tamaiti e te mate Krabbe. Engari kia maumahara, ehara i te mea ko koe anake. He rauemi hei āwhina me te whakaako i a koe me tō whānau mō tēnei. He mea nui te whai i tētahi tīma hauora e mōhio ana ki tēnei mate hei whakarato i te tiaki pai rawa atu mō tāu tamaiti.

Whakarāpopototanga (Karere hei tango ki te kāinga)

Anei ētahi mea ngāwari hei maumahara mō te Mate Krabbe:

• He mate ira onge te mate Krabbe e kino ai te pūnaha io.
• Ka whakangaromia e tēnei te hipoki tiaki e kīia nei ko te myelin e karapoti ana i ngā pūtau io.
• Ka rerekē te kaha o te mate me te roanga o te ora i runga i te tau ka tīmata ai ngā tohu (pēpi, tamariki, pakeke). Ka tino kino i te wā pēpi.
• Kāore he rongoā i tēnei wā, engari kei reira ngā maimoatanga tautoko hei whakahaere i ngā tohu me te whakapai ake i te kounga o te oranga. Ka taea e te HSCT (whakatō pūtau take hematopoietic) i mua i te putanga mai o ngā tohu te whakahaere i te kino haere o te mate.
• He mate ira tēnei, ā, kāore e taea te ārai. Heoi anō, mā te tohutohu ira koe e āwhina kia mōhio ai koe ki tō mōrearea.
• Mena ka pāngia tō tamaiti e ēnei tohu, he mea nui kia rapu tohutohu hauora tonu atu.

Ko tāku tumanako ka whai hua ēnei mōhiohio ki a koe. Kia maumahara, he mea pai kia rapu tohutohu hauora tika mō tētahi raruraru hauora.

Mate a Krabbe, Te Leukodystrophy Pūtau Globoid, Myelin, Te Demyelination, Ngā mate ira, Ngā mate roro, Ngā mate tamariki