He aha ka Weaver Syndrome? E makaʻala i kāu keiki!

Ua ʻike anei ʻoe e ulu wikiwiki ana kekahi mau keiki ma mua o nā keiki ʻē aʻe o ko lākou mau makahiki, a i ʻole he ʻokoʻa ko lākou helehelena? I kekahi manawa ma ke ʻano he mau mākua, hopohopo iki mākou ke ʻike mākou i nā mea e like me kēia, ʻeā? I nā manawa e like me kēia, hiki ke hoʻopūhoihoi i ka noʻonoʻo, akā aia kahi maʻi genetic kakaʻikahi loa i kapa ʻia ʻo Weaver Syndrome. I kēia lā, e kamaʻilio mākou e pili ana i kēia ma ke ʻano maʻalahi hiki iā ʻoe ke hoʻomaopopo.

He aha maoli ka Weaver Syndrome?

I ka ʻōlelo maʻalahi, ʻo ka Weaver Syndrome, i kapa ʻia i kekahi manawa ʻo Weaver-Smith syndrome, he maʻi genetic . ʻO ka mea nui i kēia, ʻo ia ka ulu wikiwiki ʻana o nā iwi o ke kino ma mua o ka mea e pono ai. Hiki i kēia ke kumu i ke keiki e ʻoi aku ke kiʻekiʻe ma mua o ko lākou mau makahiki. Eia kekahi, hiki i kēia maʻi ke hoʻololi i ke ʻano o ka maka o ke keiki a me ka nui o ke poʻo. I kekahi manawa hiki iā ia ke hoʻopilikia i nā ʻiʻo a me nā ʻāpana ʻē aʻe o ke kino.

E hoʻomanaʻo, ʻaʻole like ka hopena o nā kānaka a pau. Eia nō naʻe, ʻo ka hōʻailona nui a ka poʻe he nui e ʻike ai, ʻo ia ke kiʻekiʻe loa. Inā loaʻa iā ʻoe a i ʻole kāu keiki ka Weaver Syndrome, hiki iā ʻoe ke ʻike i ke kani haʻahaʻa o nā ʻiʻo, ka paʻakikī i ka hele a me ka paʻa ʻana i nā mea, a me nā lima a i ʻole nā ​​wāwae kūlou a kīnā paha. Hiki i kekahi mau keiki ke loaʻa i nā kīnā noʻonoʻo . Hiki i kēia ke ʻano mai ka maʻalahi a i ka koʻikoʻi.

Pehea ka maʻamau o kēia ʻano?

He ʻano maʻi laha ʻole kēia. He kakaikahi wale nō ka poʻe i ʻike ʻia e nā kauka ma ka honua holoʻokoʻa, ma kahi o 50, no laila hiki iā ʻoe ke noʻonoʻo i kona laha ʻole.

Pehea ka hopena o ka Weaver Syndrome i ke olakino?

Hiki i kēia kūlana ke hoʻonui iki i ka pilikia o kahi keiki i ka loaʻa ʻana o kahi ʻano maʻi kanesa i kapa ʻia ʻo Neuroblastoma . ʻO Neuroblastoma kahi ʻano maʻi kanesa e hoʻopilikia pinepine i nā keiki ma lalo o 5 mau makahiki. Loaʻa paha i kekahi mau keiki ka maʻi puʻuwai hānau, kahi e pono ai ke ʻoki ʻana. Eia nō naʻe, me ka mālama olakino kūpono a me ka nānā ʻana , hiki i ka hapa nui o nā keiki me Weaver Syndrome ke ola olakino a hiki i ka wā makua.

He aha ke kumu o kēia? No ke aha lā kēia e hana nei?

He maʻi hoʻoilina ka Weaver Syndrome. ʻO ka maʻi hoʻoilina kahi kūlana e kū mai ana i ka wā e loaʻa ai kahi loli (kapa mākou he mutation) i loko o kā mākou mau genes. Pili ʻo Weaver Syndrome me kahi gene i kapa ʻia ʻo EZH2. ʻO kēia mutation i loko o ka gene EZH2 ke kumu o ka nalowale o ka iwi.ʻOi aku ka wikiwiki o kona ulu ʻana. Eia kekahi, hoʻomaka kēia i kahi hopena kaulahao e hoʻopilikia i nā ʻano genes ʻē aʻe he nui i loko o ke kino. ʻO ia ke kumu e hiki ai i ka Weaver Syndrome ke hoʻopilikia i nā ʻiʻo like ʻole, nā iwi, a me nā ʻōpū.

Eia nō naʻe, ʻaʻole maopopo loa i nā kauka pehea e hoʻokumu ai kēia hoʻololi ʻana o ka gene `(EZH2)` i ka Weaver Syndrome. Ma kahi o ka hapalua o ka poʻe me ka Weaver Syndrome e hoʻoilina i kēia hoʻololi ʻana o ka gene mai kekahi o ko lākou mau mākua. Inā loaʻa i ka makuahine a i ʻole ka makuakāne kēia hoʻololi ʻana o ka gene `(EZH2)`, aia ma kahi o 50% ka manawa e hoʻoilina pū ai ke keiki i ka wā e loaʻa ai iā lākou kahi keiki.

Eia nō naʻe, ʻaʻole i hoʻoilina mau ʻia ka Weaver Syndrome mai nā mākua mai. Hiki i kekahi poʻe ke hoʻomohala i kēia hoʻololi ʻana o ka gene (EZH2) ʻoiai inā ʻaʻole i loaʻa i ko lākou mau mākua.

He aha nā hōʻailona o ka Weaver Syndrome?

Hiki ke ʻike ʻia nā hōʻailona o ka Weaver Syndrome i kekahi manawa ʻoiai ke pēpē i loko o ka ʻōpū . I ka wā o ka ultrasound scan i kou wā hāpai, ʻike paha ke kauka ua ʻoi aku ka lōʻihi o nā iwi o ka pēpē ma mua o ka maʻamau. Inā hana kēia, hiki i ke kauka ke ʻōlelo he maʻi ko ka pēpē i kapa ʻia ʻo macrosomia, ʻo ia hoʻi, ua ʻoi aku ka nui o ka pēpē ma mua o ka maʻamau.

Inā loaʻa i kāu keiki hānau hou ka Weaver Syndrome, ʻoi aku paha ko lākou lōʻihi i ka wā hānau a i ʻole he kaumaha nui aʻe ko lākou i ka wā hānau . ʻO ka maʻamau, uē nā pēpē me ka Weaver Syndrome me ka leo haʻahaʻa, leo ʻūʻū.

I kekahi mau hihia, ʻaʻole paha e hōʻike ka pēpē i nā hōʻailona maopopo no kekahi mau mahina.

Hiki i kāu kauka ke ʻōlelo ua loaʻa i kāu pēpē ka "makahiki iwi holomua." ʻO ke ʻano kēia, ke oʻo wikiwiki nei kona mau iwi ma mua o ka maʻamau. Hiki i ka ulu ʻana o kāu pēpē ke wikiwiki loa a hiki ke ʻoi aku ma mua o nā pakuhi ulu maʻamau.

Hiki i ka Weaver Syndrome ke hoʻololi i ke ʻano o ke poʻo a i ʻole ka maka:

• Lae ākea
• ʻIli keu ma ke kihi o loko o nā maka (Epicanthal folds)
• Nā māwae palpebral e iho ana i lalo
• ʻO ka hypertelorism orbital ( nā maka i mamao loa ke kaʻawale )
• Loaʻa ke poʻo nui (Macrocephaly)
• Nā pepeiao nui a haʻahaʻa paha
• Hoʻonui ʻia ka lōʻihi o ka philtrum ma waena o ka lehelehe luna a me ka ihu
• ʻĀwae haʻahaʻa liʻiliʻi `(Micrognathia)`

Hiki i ka Weaver Syndrome ke hoʻopilikia i nā ʻāpana ʻē aʻe o ke kino a me nā ʻōnaehana. Inā loaʻa iā ʻoe a i kāu keiki paha kēia maʻi, hiki iā ʻoe ke ʻike pū kekahi:

• Nā kūlana puʻuwai hānau
• Clubfoot a i ʻole metatarsus addutus
• Nā kuʻekuʻe lima a i ʻole nā ​​kuli i hiki ʻole ke hoʻolōʻihi piha ʻia
• ʻAʻole hiki ke hoʻolōʻihi piha i nā manamana lima (Camptodactyly) a me nā manamana wāwae ākea
• Nā ʻano ʻino o nā hono o nā manamana wāwae
• Nā kīnā noʻonoʻo
• ʻO ka wehe ʻana o nā ʻiʻo o ka ʻōpū ke kumu o ka hernia (intestinal protrusion).
• Scoliosis
• Ke manaʻo o ka ʻoʻoleʻa o nā ʻiʻo ma nā lima a me nā wāwae
• Ka paʻakikī i ka hoʻokō ʻana i nā pae hoʻomohala i nā pēpē a me nā keiki liʻiliʻi (e laʻa, ka lohi i ka hāpai ʻana i ke poʻo, ka ʻōwili ʻana, ka noho ʻana i luna, a me ka hele ʻana)

Pehea ʻoe e ʻike pono ai i kēia?

Inā kānalua kāu kauka i ka Weaver Syndrome, hiki iā lākou ke kauoha i nā hoʻokolohua genetic e nānā i ka mutation gene EZH2 . ʻO ka maʻamau, pili kēia i ka lawe ʻana i kahi hāpana koko a hoʻouna iā ia i kahi keʻena hoʻāʻo genetic.

I kekahi manawa, hiki i kāu kauka ke hoʻāʻo no kekahi mau hoʻololi gene e kāpae i nā kūlana genetic ʻē aʻe. Ua kapa ʻia kēia he panela hoʻāʻo genetic . ʻO kēia no ka mea aia kekahi mau kūlana genetic ʻē aʻe, e like me ka Sotos syndrome, i loaʻa nā hōʻailona like me Weaver Syndrome. No laila, hiki i kahi panela hoʻāʻo e like me kēia ke kōkua iā ʻoe e ʻike pono i ka hoʻololi gene āu a i ʻole kāu keiki.

He aha nā lāʻau lapaʻau no ka Weaver Syndrome?

ʻAʻohe lāʻau lapaʻau no ka Weaver Syndrome i kēia manawa. Eia nō naʻe, hiki i kāu kauka ke kōkua iā ʻoe a i ʻole kāu keiki e hoʻokele i ke kūlana ma ka hoʻokumu ʻana i kahi hoʻolālā mālama . No ka laʻana, hiki i kēia hoʻolālā mālama ke komo pū me:

• Inā he mau kīnā noʻonoʻo, loaʻa ka mālama ola kino (e like me ka hoʻonaʻauao kūikawā, ka lāʻau lapaʻau).
• Inā he mau pilikia puʻuwai hānau, e mālama a mālama iā lākou me ka mālama Cardiovascular .
• Kākoʻo hou aʻe no nā hana kula a me ke aʻo ʻana (e.g., ke aʻo kūikawā, ke kākā'ōlelo hoʻonaʻauao).
• Inā loaʻa iā ʻoe nā pilikia me kou mau hono, lima, a i ʻole nā ​​​​wāwae, pono paha ʻoe i kahi ʻoki kino orthopedic a i ʻole nā ​​​​kaʻina hana lapaʻau ʻē aʻe .
• Hoʻoikaika kino e hoʻomohala i ka ikaika o nā ʻiʻo a me ka hoʻonohonoho ʻana o ke kino.

ʻO ka mea nui loa, ʻoiai he ʻokoʻa kēia mau mea a pau mai kekahi keiki a i kekahi keiki, hui pū kahi hui o nā kauka e hana i kēia hoʻolālā mālama e kūpono i ke keiki.

Aia kekahi ala e pale aku ai i ka Weaver Syndrome?

ʻO ka mea pōʻino, ʻaʻohe ala i ʻike ʻia e pale aku ai i ka Weaver Syndrome i kēia manawa.Hiki i nā keiki ke hoʻoilina i kēia mai ko lākou mau mākua mai, akā hiki nō hoʻi ke ulu kūʻokoʻa me ka ʻole o kekahi o ka ʻohana e loaʻa ana. Hiki i kahi makua ke lilo i mea lawe i kēia hoʻololi hoʻoilina, akā ʻaʻole paha lākou e ʻike.

Pehea e ʻike ai au inā ua pilikia au?

Inā loaʻa i kekahi o kou ʻohana kahi maʻi hoʻoilina a i ʻole kahi hoʻololi ʻana o ka gene i ʻike ʻia , he manaʻo maikaʻi e nīnau i kāu kauka e pili ana i ka hoʻāʻo ʻana i ka genetic. Hiki i kēia mau hoʻokolohua ke ʻike i kekahi mau hoʻololi gene e hiki ke hoʻoulu i nā pilikia olakino. Hiki i kēia mau hoʻokolohua ke kōkua iā ʻoe e ʻike e pili ana i nā kūlana genetic āu e hoʻoili ai i kāu mau keiki.

He aha ka manaʻolana no kekahi me ka Weaver Syndrome?

ʻOiai ʻaʻohe lāʻau lapaʻau no ka Weaver Syndrome, hiki i ka poʻe me ke ʻano ke ola olakino me ka mālama pono ʻana. ʻO ka mea nui loa, ʻo ia ke ʻike pinepine i kāu kauka e mālama i kāu mau hōʻailona a loaʻa ka mālama āu e pono ai. Aia kekahi mau keiki me ka Weaver Syndrome i ka pilikia o ka loaʻa ʻana o kahi maʻi ʻaʻai i kapa ʻia ʻo neuroblastoma, akā ʻaʻole ka hapa nui. Eia nō naʻe, hiki i kāu kauka ke kamaʻilio me ʻoe e pili ana i nā hōʻailona o ka neuroblastoma a hiki ke hana i nā hoʻokolohua hou no kāu keiki inā pono.

Āhea ʻoe e ʻimi ai i ke kōkua lapaʻau? He aha nā hōʻailona āu e hopohopo ai?

He mea nui e hana i nā nānā kino maʻamau a kamaʻilio me kāu kauka e pili ana i nā pilikia olakino kino a noʻonoʻo paha āu e loaʻa ai. E hahai i ka hoʻolālā mālama a kāu kauka e hāʻawi ai iā ʻoe. Inā loaʻa i kāu keiki ʻo Weaver Syndrome, pono ʻoe e hana like.

ʻOi aku hoʻi, inā ʻike ʻia kāu keiki i kekahi o nā hōʻailona o ka neuroblastoma , e hoʻomaopopo koke i ke kauka o kāu keiki:

• Nā maka e puka mai ana a i ʻole nā ​​pōʻai ʻeleʻele a puni nā maka.
• Ke ʻano o kahi puʻupuʻu hou a i ʻole ka puʻupuʻu ma ka ʻāʻī a i ʻole ke kino (ʻōpū, umauma).
• Ka maʻi kahe, ka ʻōpū ʻeha, ka nalowale o ka makemake.
• Manaʻo luhi loa me ke kuni a i ʻole ke kuni.
• ʻO ke ʻano o nā puʻupuʻu polū a poni paha ma lalo o ka ʻili.
• ʻIli keʻokeʻo.
• Pehu ʻōpū.
• Paʻakikī ka hanu ʻana.
• Ka nāwaliwali a i ʻole ka lolo o nā wāwae a me nā wāwae (e like me ka hiki ʻole ke hele).

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

He mea nui e hoʻomaopopo he maʻi laha ʻole ka Weaver Syndrome a hoʻopilikia like ʻole i kēlā me kēia kanaka. ʻOiai ʻaʻohe lāʻau lapaʻau, me ka mālama lapaʻau kūpono a me kahi hoʻolālā mālama, hiki iā ʻoe a i ʻole kāu keiki ke hoʻokele i nā hōʻailona a ola i ke ola olakino e like me ka hiki. He mea nui e loaʻa ka mālama lapaʻau maʻamau a hahai i nā ʻōlelo a kāu kauka. Inā he mau nīnau kāu a i ʻole kekahi o kou ʻohana e pili ana i kēia, mai kānalua e kamaʻilio me ke kauka. E hiki iā lākou ke kōkua iā ʻoe.

`ʻO ka Weaver Syndrome, nā maʻi genetic, ka ulu ʻana o ka iwi, ka loaʻa ʻana o ke kiʻekiʻe, ka gene EZH2, Neuroblastoma