Loaʻa i kāu pēpē kēia mau hōʻailona? E aʻo kākou e pili ana i ka Pfeiffer Syndrome!

ʻAʻole hiki ke wehewehe ʻia ka hauʻoli o nā mākua ke nānā aku lākou i kahi pēpē hānau hou, ʻeā? I ka manawa like, nānā nui lākou i kēlā me kēia kikoʻī liʻiliʻi e pili ana i ka pēpē. I kekahi manawa manaʻo paha ʻoe he ʻano ʻē ke ʻano o ke poʻo o ka pēpē, a i ʻole he nui ke ʻano o nā maka. He mea maʻamau ka manaʻo makaʻu iki a me ke kānalua ke ʻike ʻoe i nā mea e like me kēia. Akā, ʻaʻole nā ​​hiʻohiʻona ʻē a pau he hōʻailona ia o kahi maʻi koʻikoʻi. Eia nō naʻe, he mea nui loa ka makaʻala i kahi maʻi laha ʻole i kapa ʻia ʻo Pfeiffer Syndrome, a mākou e kamaʻilio nei i kēia lā.

He aha ka Pfeiffer Syndrome? E hoʻomaopopo maʻalahi kākou.

I ka ʻōlelo maʻalahi, he maʻi hoʻoilina ka Pfeiffer Syndrome. ʻO ka mea e hana ʻia ana, ma mua o ka ulu piha ʻana o ka lolo o ka pēpē, ʻo nā wahi e hui pū ai nā iwi o ke poʻo, i kapa ʻia ʻo nā sutures, e pani koke ʻia. Ua kapa ʻia kēia he craniosynostosis ma nā ʻōlelo lapaʻau. E noʻonoʻo, he wahi ko ko kākou lolo e ulu ai. No laila, i ka wā e pani koke ai ke poʻo, ulu ka lolo i loko, a paʻi ke poʻo iā ia. ʻO ia ke kumu i hoʻopilikia ʻia ai ke ʻano o ke poʻo.

Aia kekahi mau ʻano nui e hiki ke hoʻomaopopo i kahi pēpē me kēia maʻi.

• ʻAʻole i ulu pono ka ʻaoʻao waena o ka maka a i ʻole ua ʻike ʻia ua piholo i loko.
• He nui a puka mai nā maka . I kekahi manawa hiki ke hoʻokaʻawale ʻia nā maka i kahi mamao loa.
• He mea ʻē ke ʻano o ka iwi poʻo.
• ʻO kekahi mea kūikawā ʻē aʻe, ʻo ia ke kūlou ʻia ʻana o nā manamana nui a me nā manamana wāwae i waho mai nā manamana lima ʻē aʻe.

Mai hopohopo inā ʻike ʻoe i hoʻokahi a ʻoi aku paha o kēia mau hōʻailona. Akā, he mea nui loa ka ʻimi ʻana i ke kōkua lapaʻau.

Aia kekahi mau ʻano o ka Pfeiffer Syndrome?

ʻAe, ua ʻike nā kauka i ʻekolu ʻano nui o kēia maʻi, ma muli o ke koʻikoʻi. E nānā kākou i ke ʻano o lākou.

ʻAno 1

ʻO kēia ke ʻano me nā hōʻailona liʻiliʻi, a i ʻole nā ​​​​​​hōʻailona ʻoluʻolu. Ua kapa ʻia hoʻi kēia ʻo "classic Pfeiffer syndrome." Hiki i kēia mau pēpē ke loaʻa kekahi mau kīnā o ka helehelena, a e like me ka mea i ʻōlelo ʻia ma mua, nā loli i nā manamana wāwae nui. Eia naʻe, me ka mālama pono ʻana, hiki i kēia mau keiki ke ola i kahi ola maʻamau a aʻo me kahi pae akamai maʻamau. No laila, he mea hōʻoluʻolu iki kēia.

ʻAno 2

ʻOi aku ka koʻikoʻi o kēia ma mua o ke ʻano mua. Hōʻike ʻia kēia ʻano e nā pilikia paʻakikī me ka ulu ʻana o ka iwi ma nā lālā. ʻO nā hōʻailona penei:

• ʻAʻole hiki ke kūlou a hoʻolōʻihi i nā hono o ke kuʻekuʻe a me ke kuli me ke kūpono.
• Nā pilikia neurological.
• Nā kīnā noʻonoʻo.

I kēia ʻano, loaʻa ke ʻano o ke poʻo i kahi ʻano "tri-lobed" a i ʻole "cloverleaf". ʻO ia hoʻi, aia kahi ʻano pehu a puka i waho ma nā ʻaoʻao ʻelua a ma mua o ke poʻo. Inā ʻaʻole e mālama koke ʻia kēia ʻano, hiki ke hoʻoweliweli i ke ola.

ʻAno 3

Ua like kēia me ke koʻikoʻi o ke ʻano ʻelua. Eia naʻe, ʻaʻole ʻoe e ʻike i ke ʻano "carnation" o ke poʻo i kēia hihia. Akā:

• He pōkole ke kumu o ke poʻo.
• Hiki ke loaʻa nā niho i ka wā hānau (nā niho hānau).
• Me he mea lā e puka mai ana nā maka mai ko lākou mau lua (ocular proptosis).
• Loaʻa paha nā ʻano like ʻole o ke kino.

ʻAʻole maikaʻi loa ka wānana no ke ʻano 3. Inā ʻaʻole mālama ʻia, nui ka manawa e make ai.

No laila e like me kāu e ʻike ai, ʻokoʻa ke koʻikoʻi o kēlā me kēia o kēia mau ʻano ʻekolu. ʻO ia ke kumu he mea nui ka ʻike mua a me ka mālama ʻana.

Pehea ka maʻamau o ka Pfeiffer Syndrome?

He maʻi hoʻoilina laha ʻole kēia. Wahi a nā helu helu, hoʻokahi wale nō i loko o hoʻokahi haneli tausani hānau ʻana i loaʻa i kēia maʻi. ʻO ia hoʻi, he mea laha ʻole loa ia.

He aha nā hōʻailona o ka Pfeiffer Syndrome?

E like me kā mākou i kūkākūkā ai ma mua, ʻo ke kumu nui ka pani mua ʻana o nā sutures ma waena o nā iwi o ke poʻo o ka pēpē i ka wā fetal. Ma hope o kēlā, hoʻomau ka ulu ʻana o ka lolo o ka pēpē. Hoʻonui kēia i ke kaomi i loko o ke poʻo, e hana ana i kekahi mau hiʻohiʻona kino e hoʻopilikia i ke ʻano o ka pēpē. ʻO kēia mau mea:

• ʻIke ʻia ke poʻo he nui aʻe ma mua o ka maʻamau, pinepine me ka lae kiʻekiʻe.
• Nā maka e puka ana a i ʻole ka mamao ma waena o nā maka.
• Lilo ka ihu i ʻoi a like me ka nuku.
• Ma muli o ka liʻiliʻi o ka ʻauwae , ua paʻapū a huki ʻia nā niho i kahi i kekahi.

Eia kekahi, aia kekahi mau ʻano kino ʻē aʻe:

• He ākea nā manamana wāwae nui a me nā manamana wāwae nui a ua ʻokoʻa ko lākou kūlana mai nā manamana wāwae ʻē aʻe.
• Hiki ke hoʻopili ʻia nā manamana lima a i ʻole ka ulana ʻia.

ʻAʻole like kēia mau hōʻailona a pau no kēlā me kēia pēpē. Hiki ke ʻokoʻa ma muli o ke koʻikoʻi o ke kūlana.

Pehea ka hopena o ka Pfeiffer Syndrome i ke kino o kahi pēpē?

Ma muli o ka ulu wikiwiki ʻana o ke poʻo o ke pēpē i ka wā o ka fetal, hiki iā ia ke loaʻa i nā pilikia like ʻole. ʻO kekahi o lākou:

• Hydrocephalus: ʻO kēia ka wā e hōʻiliʻili ai kahi wai e like me ka wai a puni ka lolo, e hoʻonui ana i ke kaomi i loko o ke poʻo.
• Nā pilikia niho: e like me ka wili ʻana a me ka ʻū ʻana o nā niho.
• Ka nalowale o ka lohe.
• Ka paʻakikī i ka neʻe ʻana ma muli o ka hana pono ʻole o nā hono.
• ʻAneʻane hiamoe.
• Ka paʻakikī o ka hanu ʻana ma ka ihu (Paʻa ʻana o ke ala ea).
• Nā pilikia ʻike.

Pono kēia mau pilikia i ka mālama koke a me ka mālama lōʻihi.

He aha ke kumu o ka Pfeiffer Syndrome?

ʻO ke kumu nui o kēia ʻano he loli, a i ʻole mutation, i loko o kahi gene.ʻO kēia ke kumu e pau ai ka hana pono ʻana o ka gene i nīnau ʻia. ʻO ka hapa pinepine, loaʻa kēia loli i loko o ka gene i kapa ʻia ʻo `FGFR2 (fibroblast growth factor receptor)`. Eia nō naʻe, hiki ke hana ʻia e kahi loli i loko o ka gene i kapa ʻia ʻo `FGFR1`. I kekahi hihia, ua loaʻa pū kekahi loli like i loko o ka gene `FGFR3`.

I ka ʻōlelo maʻalahi, hoʻopilikia kēia loli genetic i ke kamaʻilio ʻana ma waena o nā protein e kōkua i ka ulu ʻana o nā cell (fibroblast growth factors) a me kā lākou mau receptors. ʻO ka hopena, i ka wā embryonic, ma mua o ka ulu piha ʻana o ka lolo o ka pēpē, pani ʻia nā sutures ma waena o nā iwi o ke poʻo. A laila, i ka ulu ʻana o ka lolo, paʻi nā iwi poʻo i pani ʻia kekahi i kekahi, e hoʻololi ana i ko lākou ʻano, a e hoʻoulu ana i nā ulu kūpono ʻole ma nā ʻāpana like ʻole o ke kino.

Hiki ke hoʻoilina ʻia kēia hoʻololi ʻano genetic mai kekahi o nā mākua (autosomal dominant). A i ʻole, hiki ke lilo i loli hou a kaulele ʻole i ka DNA o ka pēpē (de novo mutation). Ua ʻike ʻia he ʻoi aku ka maʻamau o kēia mau loli kaulele inā ʻoi aku ka makua kāne ma mua o 40-45 mau makahiki i ka manawa hānau o ka pēpē.

ʻO wai ka mea e hoʻopilikia ʻia e kēia kūlana?

He maʻi laha ʻole ka Pfeiffer Syndrome, akā hiki ke hiki i kekahi. ʻAʻole ia he mea hiki i kekahi ke hana me ka manaʻo, ʻaʻole hoʻi he mea hiki ke pale ʻia. No laila, he mea nui e makaʻala i kēia.

Pehea e ʻike ʻia ai ka maʻi Pfeiffer?

Hiki ke ʻike ʻia kēia kūlana ma mua o ka hānau ʻana o ka pēpē. Aia kekahi mau manawa i hiki ke ʻike ʻia nā ʻano ʻē i loko o ka ʻōnaehana iwi o ka pēpē i ka wā o ka fetal ma o nā scan ultrasound prenatal a i ʻole nā ​​​​hoʻokolohua magnetic resonance imaging (MRI).

Eia nō naʻe, ua hōʻoia pinepine ʻia ka ʻike ma hope o ka hānau ʻana o ka pēpē. Hiki i ke kauka ke hana i kahi hoʻokolokolo kino o ka pēpē a hana paha i kahi scan tomography computed (CT scan) a i ʻole MRI e nānā i nā ʻano ʻē i loko o ke poʻo a me nā iwi ʻē aʻe. ʻO ka hoʻāʻo ʻana i ka genetic, kahi e nānā ai i nā loli i nā genes FGFR1 a me FGFR2, hiki ke hōʻoia i ka ʻike.

He aha nā lāʻau lapaʻau no ka Pfeiffer Syndrome?

Hoʻokumu ʻia ka lāʻau no kēia ʻano ma luna o nā hōʻailona. Hiki i ke kauka o kāu keiki ke paipai i kekahi mau ʻoki kino e hoʻoponopono i nā ʻano ulu ʻole o ka iwi.

ʻO kahi lāʻau lapaʻau koke, ʻo ia ke ʻoki ʻana e hōʻoluʻolu i ke kaomi ma luna o ke poʻo (craniosynostosis) i ka wā e ulu ana ka lolo o ka pēpē. A i ʻole, inā he wai i hōʻiliʻili ʻia i loko o ke poʻo (hydrocephalus), e hoʻokomo ʻia kahi ʻōmole liʻiliʻi (shunt) i loko o ke poʻo e hoʻokahe i ka wai. Hana pinepine ʻia kēia ʻoki ma mua o ka piha ʻana o ka pēpē i 4 mahina.

I loko o ka makahiki mua o ka pēpē, hiki i nā kauka ke ʻōlelo aku i ke ʻoki ʻana e wehe i ke poʻo e ʻae i ka lolo e ulu.

Ma hope o kēlā,Hana ʻia ke ʻoki hana hou a me ke ʻoki hoʻonani e hoʻoponopono i ka asymmetry o ka helehelena, wehe i nā ala ea, a hoʻihoʻi i ke ʻano o ke poʻo.

ʻO ka mea nui, ma lalo o ka nānā ʻana a ke kauka o ke keiki, hiki ke kōkua ʻia ka hapa nui o nā keiki me ka Pfeiffer Syndrome e hoʻokō i ko lākou hiki piha.

He aha nā lāʻau lapaʻau e hiki ai ke hōʻoluʻolu i nā pilikia o ka Pfeiffer Syndrome?

Ma waho aʻe o ke ʻoki kino, aia nā lāʻau lapaʻau e hōʻoluʻolu i nā pilikia o kēia ʻano.

• ʻO ka mālama ʻana i nā niho a me nā orthodontics no nā mea e like me ka paʻapū ʻana o nā niho a me ke kīkoʻo kiʻekiʻe o ka lehelehe.
• Lapaʻau maka no ka hemahema o ka ʻike.
• Ka hoʻohana ʻana i nā mea kōkua lohe no nā pilikia o ka lohe.

Hana ʻia kēia mau mea a pau e kōkua i ke keiki e ola i ke ola maʻamau e like me ka hiki.

Aia kekahi lāʻau lapaʻau piha no kēia?

ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau no ka Pfeiffer Syndrome i kēia manawa. ʻO ke ʻoki kino a me nā lāʻau lapaʻau ʻē aʻe e pili ana i ka hōʻemi ʻana i nā hōʻailona o ke keiki a me ke kōkua ʻana iā ia e ulu pono.

He aha kāu e manaʻo ai ma ke ʻano he makua o kahi keiki me ka Pfeiffer Syndrome?

He maʻi ola ka Pfeiffer Syndrome ʻaʻohe ona lāʻau lapaʻau. E hoʻomohala ke kauka o kāu keiki i kahi hoʻolālā lapaʻau e kōkua i ka hoʻokele ʻana i nā hōʻailona. Hiki i kēia ke komo pū me kekahi mau ʻoki kino.

• Inā loaʻa i kāu keiki ka Type 1 Pfeiffer syndrome, he maʻamau paha ko lākou manaʻolana ola.
• Eia nō naʻe, ʻoi aku ka nui o nā pilikia a me ke ola pōkole o nā keiki me ka Type 2 a i ʻole Type 3 Pfeiffer syndrome inā ʻaʻole mālama ʻia .

No laila, he mea nui loa e lawe i kāu keiki no nā hoʻokolohua olakino maʻamau i mea e ʻike ai i nā pilikia olakino a ulu paha e loaʻa paha iā lākou i ko lākou ulu ʻana.

Hiki iaʻu ke hōʻemi i ka pilikia o ka hānau ʻana i kahi keiki me ka Pfeiffer Syndrome?

Inā ʻoe e hāpai ana i kahi keiki, e kamaʻilio me kāu kauka e pili ana i ke aʻoaʻo genetic a me ka hoʻāʻo genetic. Inā loaʻa iā ʻoe a i ʻole kāu hoa ka hoʻololi ʻana o ka gene FGFR1 a i ʻole FGFR2, aia he 50% ka pilikia e hoʻoilina kāu keiki iā ia. ʻO ke ʻano kēia inā loaʻa iā ʻoe kahi keiki, aia he 50-50 manawa e loaʻa iā lākou ke ʻano a i ʻole.

Eia nō naʻe, inā ʻaʻole i loaʻa i nā mākua ʻelua kēia maʻi, ua haʻahaʻa loa ka pilikia o ka loaʻa ʻana o kēia maʻi i kahi keiki ʻelua. Eia nō naʻe, ʻaʻole hiki ke ʻōlelo ʻia he ʻole loa, no ka mea, hiki ke hana ʻia nā loli genetic i ʻōlelo ʻia ma mua (de novo mutations).

Āhea wau e ʻike ai i ke kauka o kaʻu keiki?

Inā loaʻa i kāu keiki ka Pfeiffer Syndrome, e makaʻala i kēia mau mea:

• Inā pilikia ke keiki i ka hanu ʻana.
• Inā ʻaʻole e ho'ōla pono ana ke kahua ʻoki, ua ʻano ʻē ke kala, ua pehu, a i ʻole he pus (ʻo ia hoʻi he maʻi).
• Inā ʻaʻole hoʻokō ke keiki i nā pae hoʻomohala kūpono no ko lākou mau makahiki.
• Inā ʻaʻole lākou e pane i nā kauoha maʻalahi i ʻōlelo ʻia a i ʻole inā loaʻa pinepine iā lākou nā maʻi pepeiao.

Inā ʻike ʻoe i kekahi mea e like me kēia, e ʻike koke i ke kauka.

He aha nā nīnau e pono iaʻu e nīnau aku i kaʻu kauka?

He mea maikaʻi ke nīnau i nā nīnau e like me kēia:

• He aha ka lāʻau lapaʻau kūpono loa no kaʻu keiki?
• He aha nā pilikia e pili ana i ke ʻoki kino e mālama ai i kēia maʻi?
• Inā loaʻa iaʻu kekahi keiki ʻē aʻe, aia kekahi pilikia e loaʻa pū iā ia kēia maʻi?

Ma waho aʻe o kēia mau nīnau, e nīnau i ke kauka i kekahi mea āu e noʻonoʻo nei.

Ua loaʻa anei i ke keiki a Prince ka maʻi ʻo Pfeiffer Syndrome?

ʻAe, he hanana kaulana kēia. Ma kāna puke 2017, ʻo The Most Beautiful: My Life with Prince, ua wehewehe ʻo Mayte Garcia, ka wahine a ka mea hoʻokani pila kaulana ʻo Prince, pehea i loaʻa ai i ke keiki a lāua i ka makahiki 1996 ka maʻi Pfeiffer type 2. ʻO ka mea pōʻino, ua make ke pēpē i ka wā kamaliʻi ma muli o nā pilikia koʻikoʻi mai ke ʻano. Ua wehewehe ʻo Garcia ʻaʻole ʻo ia a ʻo Prince paha i loaʻa ke ʻano genetic, a ua manaʻo ʻia ua loaʻa i ke keiki ma muli o kahi hoʻololi genetic hou. Hōʻike kēia i ke koʻikoʻi o ke ʻano a pehea e hiki ʻole ai ke wānana i kekahi manawa.

ʻO ka mea hope loa, nā mea e hoʻomanaʻo ai (Leka Lawe-Home)

He maʻi hoʻoilina laha ʻole a paʻakikī hoʻi ka Pfeiffer Syndrome. Pono paha ia i nā ʻokiʻoki he nui e hōʻoluʻolu i nā hōʻailona. Eia nō naʻe, me ka mālama pono ʻana a me ka nānā pono ʻana o ke kauka, hiki i kāu keiki ke ulu a aʻo e like me nā keiki ʻē aʻe. Eia nō naʻe, aia kekahi mau pilikia e pono ʻoe e makaʻala.

Inā loaʻa i kekahi o kou ʻohana ka Pfeiffer Syndrome, a ke hāpai nei ʻoe i kahi keiki, he mea nui loa ia e loaʻa ka ʻōlelo aʻoaʻo genetic. E kōkua kēia iā ʻoe e ʻike inā paha e pilikia ana kāu keiki i ka loaʻa ʻana o kēia maʻi.

Manaʻolana wau he kōkua kēia ʻike iā ʻoe. E hoʻomanaʻo, ʻaʻole ʻoe hoʻokahi. He mea nui loa ka loaʻa ʻana o ke kākoʻo mai nā kauka a me ka ʻohana i ka wā e hana ai i nā kūlana e like me kēia.

ʻO ka maʻi Pfeiffer, ka maʻi Pfeiffer, nā maʻi genetic, iwi poʻo, craniosynostosis, olakino keiki, gene FGFR, ʻoki kino