Kei tō pēpi ēnei tohu? Me ako tātou mō te Pfeiffer Syndrome!

Kāore e taea te whakaahua i te harikoa o ngā mātua ina titiro rātou ki tētahi pēpi hou, kāore? I taua wā anō, ka aro nui rātou ki ngā kōrero iti katoa mō te pēpi. I ētahi wā ka whakaaro pea koe he ahua rerekē te āhua o te upoko o te pēpi, he ahua nui rānei ngā kanohi. He mea noa te mataku me te whakapae ina kite koe i ngā mea pēnei. Engari ehara i te mea ko ngā āhua rerekē katoa he tohu o tētahi mate kino. Heoi anō, he mea tino nui kia mōhio koe ki tētahi mate onge e kiia nei ko te Pfeiffer Syndrome, ka kōrerohia e tātou i tēnei rā.

He aha te Pfeiffer Syndrome? Kia mārama tātou.

Ki te kī māmā noa, he mate ira te Pfeiffer Syndrome. Ko te mea ka tupu, i mua i te tino whanaketanga o te roro o te pēpi, ka kati wawe ngā wāhi e hono ai ngā wheua o te angaanga, e kiia nei ko ngā tuitui. Ka kiia tēnei ko te craniosynostosis i roto i ngā kupu hauora. Whakaarohia, he wāhi kei ō tātou roro hei tipu. Nō reira, ina kati wawe te angaanga, ka tipu te roro ki roto, ā, ka pana te angaanga ki a ia. Koinei te take e hē ai te āhua o te angaanga.

He maha ngā āhuatanga matua hei tautuhi i tētahi pēpi kua pāngia e tēnei mate.

• Kāore te waenganui o te mata i tino whanake , i te āhua rānei kua totohu ki roto.
• He nui te āhua o ngā kanohi, ā, he pūwero . I ētahi wā, ka tawhiti rawa te tawhiti o ngā kanohi.
• He rerekē te āhua o te angaanga.
• Ko tētahi atu mea motuhake ko te piko o ngā koromatua me ngā māia waewae ki waho i ngā maihao kē atu.

Kaua e mataku mēnā ka kite koe i tētahi, i ētahi rānei o ēnei tohu. Engari he mea tino nui kia rapu tohutohu hauora.

He momo Pfeiffer Syndrome anō kei reira?

Āe, kua tautuhia e ngā tākuta ētahi momo matua e toru o tēnei mate, i runga i te kaha o te mate. Kia tirohia tātou he aha ēnei momo.

Momo 1

Koinei te momo he iti noa ngā tohu, he ngawari rānei. Ka kiia hoki tēnei ko te "classic Pfeiffer syndrome." Ka taea hoki e ēnei pēpi te pāngia e ētahi āhua rerekē o te mata, me te mea kua whakahuatia i mua ake nei, ngā panonitanga o ngā matimati nui. Heoi, mā te maimoatanga tika, ka taea e ēnei tamariki te noho noa i te ao me te ako me te taumata mohio noa. Nō reira, he mea whakamarie tēnei.

Momo 2

He kino ake tēnei i te momo tuatahi. Ko te āhua o tēnei momo he raruraru uaua ki te tipu o te wheua i roto i ngā peka. Ko ngā tohu ko:

• Te kore e taea te piko me te totoro tika i ngā hononga o te tuke me te turi.
• Ngā raruraru roro.
• Ngā hauātanga hinengaro.

I tēnei momo, ka rite te āhua o te tumuaki ki te "toru-lobed" me te "cloverleaf" rānei. Ko te tikanga he āhua pupuhi, he āhua pūwero kei ngā taha e rua me mua o te upoko. Ki te kore tēnei momo e rongoā wawetia, ka mate pea.

Momo 3

He rite tonu te kino o tēnei ki te momo tuarua. Heoi, kāore koe e kite i te āhua "kānati" o te tumuaki i tēnei take. Engari:

• He poto te pūtake o te angaanga.
• Tērā pea kei te whānau mai ngā niho (ngā niho whānau).
• Te āhua nei kei te puta mai ngā kanohi i roto i ō rātou kōhao (ocular proptosis).
• Tērā pea he āhuatanga rerekē o te visceral.

Kāore hoki i te tino pai te matapae mō te momo 3. Ki te kore e rongoatia, he nui te tūponotanga ka mate.

E kite ana koe, he rerekē te kaha o ia momo e toru. Koia te mea nui o te tautuhi wawe me te maimoatanga.

He pēhea te noa o te mate Pfeiffer Syndrome?

He tino onge tēnei mate ira. E ai ki ngā tatauranga, kotahi anake i roto i te kotahi rau mano ngā whānautanga e pāngia ana e tēnei mate. Arā, he tino onge.

He aha ngā tohu o te Pfeiffer Syndrome?

E ai ki tā tātou i kōrero ai i mua ake nei, ko te take matua ko te katinga wawe o ngā hononga i waenganui i ngā wheua o te angaanga o te pēpi i te wā o te kukune. Whai muri i tēnā, ka tipu tonu te roro o te pēpi. Ka piki ake te pēhanga i roto i te angaanga, ka puta he maha ngā āhuatanga ā-tinana e pā ana ki te āhua o te pēpi. Ko ētahi o ēnei:

• He nui ake te āhua o te upoko i te mea noa, he teitei hoki te rae i ētahi wā.
• Ngā kanohi e kokiri ana, e tawhiti ana rānei i waenganui i ngā kanohi.
• Ka koi te ihu, ka rite ki te ngutu.
• Nā te iti o te kauae , ka piri ngā niho ki a rātou anō, ka kumea hoki.

Hei tāpiritanga, kei reira ētahi atu āhuatanga ā-tinana:

• He whānui ngā māikuku nui me ngā māikuku nui, ā, he rerekē te tūnga mai i ngā māikuku kē atu.
• Ka taea te whakapiripiri i ngā maihao, te whatu rānei.

Kāore e rite katoa ēnei tohu mō ia pēpi. Ka rerekē pea i runga i te kaha o te mate.

He pēhea te pānga o te Pfeiffer Syndrome ki te tinana o te pēpi?

Nā te tere o te whanaketanga o te angaanga o te pēpi i te wā e hapu ana, ka pāngia pea ia e ngā raruraru maha. Ko ētahi o ēnei ko:

• Te Hydrocephalus: Koinei te wā e kohikohi ai he wai rite ki te wai huri noa i te roro, ka piki ake te pēhanga i roto i te angaanga.
• Ngā raruraru niho: pērā i te kōkō me te whakakōkī o ngā niho.
• Te ngaronga o te rongo.
• Te uaua ki te neke nā te kore e mahi tika ngā hononga.
• Te mate moe.
• Te uaua ki te manawa mā te ihu (Te aukati i te ara manawa).
• Ngā raruraru tirohanga.

Ko ēnei raruraru e hiahia ana kia tere te maimoatanga me te whakahaere mo te wa roa.

He aha te take o te Pfeiffer Syndrome?

Ko te tino take o tēnei āhuatanga he panoni, he whakarerekētanga rānei, i roto i te ira.Nā tēnei ka mutu te mahi tika a te ira e pā ana. I te nuinga o te wā, ka puta tēnei huringa i roto i te ira e kiia nei ko te FGFR2 (fibroblast growth factor receptor). Heoi, ka taea hoki te puta mai i te huringa o te ira e kiia nei ko te FGFR1. I tētahi wā, kua kitea anō hoki tētahi huringa ōrite i roto i te ira FGFR3.

I te whakarapopototanga, ka whakararuraru tēnei huringa ira i te whakawhitiwhiti kōrero i waenga i ngā pūmua e āwhina ana i ngā pūtau kia tipu (ngā mea whakatipu fibroblast) me ō rātou kaiwhakawhiwhi. Nō reira, i te wā o te kukunetanga, i mua i te tino whanaketanga o te roro o te pēpi, ka kati ngā hononga i waenga i ngā wheua o te angaanga. Kātahi, i te tipu haere o te roro, ka pana ngā wheua angaanga kua kati tetahi ki tetahi, ka huri te āhua, ā, ka puta he tipu rerekē i roto i ngā wāhanga rerekē o te tinana.

Ka taea te tuku iho i tēnei whakarerekētanga ira mai i tētahi o ngā mātua (autosomal dominant). Tērā pea he whakarerekētanga hou, matapōkere i roto i te DNA o te pēpi (de novo mutation). Kua kitea he paku noa ake ēnei whakarerekētanga matapōkere mena he pakeke ake te pāpā i te 40-45 tau i te wā i whānau ai te pēpi.

Ko wai ka pāngia e tēnei āhuatanga?

He tino onge te mate Pfeiffer Syndrome, engari ka pā ki te tangata katoa. Ehara i te mea ka taea e te tangata te whakararu, ehara hoki i te mea ka taea te ārai. Nō reira, he mea nui kia mōhio ki tēnei.

Me pēhea te tautuhi i te Pfeiffer Syndrome?

Ka taea te kite i tēnei āhuatanga i mua i te whānautanga o te pēpi. Tērā ētahi wā ka kitea ngā āhuatanga rerekē o te pūnaha angaiwi o te pēpi i te wā o te kukune mā roto i ngā matawai ultrasound i mua i te whānautanga, i ngā whakamātautau whakaahua aukume (MRI) rānei.

Heoi, he maha ngā wā ka whakaūhia te mate i muri i te whānautanga o te pēpi. Tērā pea ka tirotirohia e te tākuta te pēpi, ka mahia rānei he matawai rorohiko (CT scan) MRI rānei hei rapu i ngā āhuatanga rerekē o te angaanga me ētahi atu wheua. Ka taea hoki e te whakamātautau ira, e rapu ana i ngā huringa o ngā ira FGFR1 me FGFR2, te whakaū i te mate.

He aha ngā maimoatanga mō te Pfeiffer Syndrome?

Ko te maimoatanga mō tēnei mate ka whakawhirinaki ki ngā tohu. Tērā pea ka tūtohu te tākuta o tāu tamaiti i ētahi pokanga hei whakatika i ngā āhuatanga rerekē o te tipu o te wheua.

Ko te maimoatanga tonu ko te pokanga hei whakamama i te pēhanga ki runga i te angaanga (craniosynostosis) i te whanaketanga o te roro o te pēpi. Mēnā rānei he wai kei roto i te angaanga (hydrocephalus), ka whakauruhia he ngongo iti (shunt) ki roto i te angaanga hei tango i te wai. Ko te tikanga ka mahia tēnei pokanga i mua i te 4 marama te pakeke o te pēpi.

I roto i te tau tuatahi o te pēpi, ka tūtohu pea ngā tākuta kia pokangahia te angaanga kia taea ai te whanake o te roro.

I muri i tērā,Ka mahia te pokanga whakahou me te pokanga whakapaipai hei whakatika i te kore ōrite o te kanohi, hei whakatuwhera i ngā ara manawa, hei whakahoki mai i te āhua o te angaanga.

Ko te mea nui, i raro i te tirotiro a te tākuta o te tamaiti, ka taea te āwhina i te nuinga o ngā tamariki e pāngia ana e te Pfeiffer Syndrome kia eke ki tō rātou pūmanawa katoa.

He aha ngā maimoatanga e wātea ana hei whakamamae i ngā raruraru o te Pfeiffer Syndrome?

Haunga te pokanga, kei reira anō ngā maimoatanga hei whakamama i ngā raruraru o tēnei mate.

• Te maimoatanga niho me te tiaki niho mō ngā āhuatanga pēnei i te pupuhi o ngā niho me te piko o te waha.
• Te maimoatanga kanohi mō te ngoikore o te tirohanga.
• Te whakamahi i ngā taputapu whakarongo mō ngā ngoikoretanga o te whakarongo.

Ka mahia ēnei mea katoa hei āwhina i te tamaiti kia ora i te oranga noa.

He rongoā tino pai mō tēnei?

Engari, kāore anō kia kitea he rongoā mō te Pfeiffer Syndrome i tēnei wā. Ko te mahi pokanga me ētahi atu maimoatanga he whakaiti i ngā tohu o te tamaiti, he āwhina hoki i a ia kia whanake tika.

He aha ngā mea e tika ana kia tumanakohia e koe hei mātua o tētahi tamaiti e pāngia ana e te Pfeiffer Syndrome?

He mate mō te wā roa te Pfeiffer Syndrome, kāore he rongoā. Ka whakawhanakehia e te tākuta o tāu tamaiti he mahere maimoatanga hei āwhina i te whakahaere i ngā tohu. Tērā pea ka uru atu ki tēnei ētahi pokanga.

• Mena kei te pāngia tāu tamaiti e te mate Pfeiffer Momo 1, he noa pea te roa o tōna oranga.
• Heoi, ko ngā tamariki e pangia ana e te mate Pfeiffer Momo 2, Momo 3 rānei, tera pea ka nui ake ngā raruraru ka pā mai, ā, ka poto ake hoki te roa o te oranga mēnā kāore e rongoatia .

Nō reira, he mea tino nui kia tirohia te hauora o tāu tamaiti i ia wā, kia mōhio ai ia ki ngā raruraru hauora, ki ngā raruraru whanaketanga rānei ka pā mai ki a ia i a ia e tipu ake ana.

Ka taea e au te whakaiti i te mōrearea o te whānautanga o tētahi tamaiti me te Pfeiffer Syndrome?

Mena kei te hapu koe i tētahi tamaiti, kōrero ki tō tākuta mō te tohutohu ira me te whakamātautau ira. Mena kei a koe, kei tō hoa rānei te whakarerekētanga ira FGFR1, FGFR2 rānei, e 50% te tūponotanga ka riro mai i tāu tamaiti. Ko te tikanga, ki te mea he tamaiti tāu, e 50-50 te tūponotanga ka pāngia rātou e te mate, kāore rānei.

Heoi, ki te kore tēnei mate e pā ki ngā mātua e rua, he tino iti te tūponotanga ka pāngia tētahi atu tamaiti e tēnei mate. Heoi, kāore e taea te kī he kore rawa, nā te mea ka puta pea ngā huringa ira matapōkere kua whakahuatia ake nei (ngā whakarerekētanga de novo).

Āhea ahau me toro atu ki te tākuta o taku tamaiti?

Mena kei te pāngia tāu tamaiti e te Pfeiffer Syndrome, kia mōhio koe ki ēnei mea e whai ake nei:

• Mena he uaua ki te tamaiti te manawa.
• Mena kāore te wāhi i pokanga e ora tika ana, kua rerekē te tae, kua pupuhi, kua puta rānei te pūkahukahu (tērā pea he mate pāwera).
• Mena kāore te tamaiti e tutuki ana i ngā taumata whanaketanga e tika ana mō tōna tau.
• Ki te kore rātou e aro ki ngā whakahau ngāwari, ā-waha rānei, ki te pāngia rānei rātou e ngā mate taringa maha.

Ki te kite koe i tētahi mea pēnei, me toro atu ki te tākuta tonu.

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

He pai ki te pātai i ngā pātai penei:

• Ko tēhea te rongoā tino tika mō taku tamaiti?
• He aha ngā mōrearea e pā ana ki te pokanga hei rongoā i tēnei mate?
• Mena ka whānau mai tētahi atu tamaiti māku, he tūponotanga kei pāngia hoki ia e tēnei mate?

Haunga ēnei pātai, pātai atu ki te tākuta tetahi mea kei roto i tō hinengaro.

I pāngia anō hoki te tamaiti a Prince e te mate Pfeiffer?

Āe, he kaupapa rongonui tēnei. I roto i tana pukapuka o te tau 2017, The Most Beautiful: My Life with Prince, i whakaahua a Mayte Garcia, te wahine a te kaiwaiata rongonui a Prince, i te āhua o te mate Pfeiffer momo 2 i whānau mai i tā rāua tamaiti i te tau 1996. Engari, i mate te pēpi i te wā e pēpi ana nā ngā raruraru nui o te mate. E whakamārama ana a Garcia kāore ia, kāore hoki a Prince i pāngia e te mate ira, ā, e whakaponohia ana i pāngia te tamaiti e te mate nā tētahi whakarerekētanga ira hou. E whakaatu ana tēnei i te kino o te mate, me te kore e taea te matapae i ētahi wā.

Hei whakamutunga, ngā mea hei maumahara (Karere hei tango ki te kāinga)

He mate ira onge, he uaua hoki te Pfeiffer Syndrome. Tērā pea me maha ngā pokanga hei whakamama i ngā tohu. Heoi, mā te maimoatanga tika me te tirotiro hauora pai, ka taea e tāu tamaiti te tipu me te ako pērā i ētahi atu tamariki. Heoi anō, kei reira ētahi raruraru me mōhio koe.

Mena kei te pāngia tētahi o tō whānau e te Pfeiffer Syndrome, ā, kei te hapu koe, he mea nui kia whiwhi koe i te tohutohu ira. Mā tēnei ka āwhina i a koe ki te tautuhi mēnā kei te mōrearea tō tamaiti ki te pāngia e te mate.

Ko tāku tumanako he whai hua ēnei mōhiohio ki a koe. Kia maumahara, ehara i te mea ko koe anake. He mea tino nui te rapu tautoko mai i ngā tākuta me te whānau ina pāngia koe e ngā āhuatanga pēnei.