Loaʻa i kāu pēpē ka Wolf-Hirschhorn Syndrome? E kamaʻilio kākou e pili ana!

Maopopo iaʻu ke kaumaha, ka haʻalulu, a me ke kōkua ʻole āu e manaʻo ai ke ʻike ʻoe ua loaʻa i kāu keiki kahi maʻi laha ʻole i kapa ʻia ʻo Wolf-Hirschhorn syndrome. Nui paha nā nīnau i loko o kou manaʻo, e like me, 'No ke aha i hiki ai kēia i kaʻu keiki?', 'Pehea i hiki ai kēia?', 'He aha kaʻu e hana ai i kēia manawa?' Mai manaʻo ʻoe ua hoʻokahi ʻoe i kēia manawa. E kamaʻilio kākou e pili ana i nā mea āpau me ka maopopo a me ka maʻalahi.

He aha maoli ka Wolf-Hirschhorn Syndrome?

I ka ʻōlelo maʻalahi, ʻo ka maʻi Wolf-Hirschhorn kahi maʻi genetic kakaikahi loa i hānau ʻia me ke keiki. Ua kapa ʻia hoʻi ʻo ia he `(4p- syndrome)`. Loaʻa i ko mākou mau ʻāpana kino kahi mea i kapa ʻia he chromosomes . E noʻonoʻo i kēia mau mea me he mau puke lā e loaʻa ana ka palapala hoʻolālā piha no ke ʻano o ke kūkulu ʻia ʻana o ko mākou kino. He 46 o kēia mau chromosomes, ma 23 mau pālua.

I loko o ka maʻi Wolf-Hirschhorn, ua nalowale kahi ʻāpana liʻiliʻi loa o ka chromosome 4. Ua like ia me kahi ʻāpana liʻiliʻi o kahi ʻaoʻao i loko o kahi mea hoʻolālā e haehae ʻia ana mai ke kihi. ʻOiai kahi ʻāpana liʻiliʻi o ka chromosome hiki ke hoʻopilikia i ka ulu maʻamau o ke keiki. ʻOkoʻa ke ʻano a me ke koʻikoʻi o nā hōʻailona mai kēlā keiki a kēia keiki, ma muli o ka nui o ka ʻāpana i nalowale.

He aha ke kumu o kēia kūlana? He hewa anei kēia na nā mākua?

He nīnau kēia a nā mākua he nui e nīnau ai. ʻO ka mea nui e pono ai ʻoe e hoʻomaopopo pono ma ʻaneʻi, ʻo ka hapa nui o ka manawa, ʻaʻole kēia he mea mai nā mākua mai, ʻaʻole hoʻi he mea hewa nā mākua.

ʻO ka maʻamau, hana ʻia kēia haki ʻana o ka chromosome ma ke ʻano he hanana kaulele i ka wā o ka mahele ʻana o ke kelepona ma hope o ka hāpai ʻia ʻana o kahi pēpē i loko o ka ʻōpū. ʻAʻole maopopo i nā kauka ke kumu o kēia loli hoʻoilina koke.

Eia nō naʻe, i nā hihia kakaikahi loa, hiki ke hoʻoilina ʻia kēia ʻano mai kekahi o nā mākua. Ua kapa ʻia kēia he 'balanced translocation' . ʻO ke ʻano kēia ua haki a hoʻololi ʻia nā chromosomes ʻelua a ʻoi aku paha i loko o ka makuahine a i ʻole ka makuakāne i ko lākou ulu ʻana. Akā no ka mea ua kaulike, ʻaʻole hōʻike ka makuahine a i ʻole ka makuakāne i kekahi mau hōʻailona. Eia nō naʻe, i ka wā e loaʻa ai i kēlā kanaka kahi keiki, aia kahi manawa kiʻekiʻe e hoʻoili ʻia ka chromosome kaulike ʻole i ke keiki. Inā makemake ʻoe, hiki iā ʻoe ke loaʻa i kahi hoʻāʻo genetic e ʻike inā loaʻa iā ʻoe a i ʻole kāu hoa kahi ʻano 'balanced translocation'. E kamaʻilio me kāu kauka no ka ʻike hou aku e pili ana i kēia.

He aha nā hōʻailona e ʻike ʻia ai i loko o kahi keiki?

Hiki i ka maʻi Wolf-Hirschhorn ke hoʻopilikia i nā ʻāpana like ʻole o ke kino. ʻO ia ke kumu he nui nā hōʻailona. ʻAʻole e loaʻa i nā keiki āpau kēia mau hōʻailona āpau. ʻO nā hōʻailona nui he helehelena ʻokoʻa, ka lohi o ka ulu ʻana, ke kīnā noʻonoʻo, a me nā hopu ʻana.

E nānā pono kākou i kēia mau hōʻailona ma kahi papa.

Pehea e ʻike ai i kēia maʻi?

I kekahi manawa, kānalua paha kāu kauka i kēia kūlana ma muli o kekahi mau hiʻohiʻona o ke kino o kāu pēpē i ʻike ʻia i kāu scan ultrasound maʻamau i ka wā hāpai. Eia kekahi, ʻo kekahi mau hoʻokolohua koko kūikawā (cell-free DNA screening) i loaʻa i kēia manawa hiki ke hāʻawi i nā hōʻailona e pili ana i nā pilikia chromosomal.

No ka hōʻoia ʻana i ka ʻike pololei, pono nā hoʻokolohua genetic kikoʻī. I waena o lākou, ʻo ka mea nui loa ka hoʻāʻo 'fluorescence in situ hybridization (FISH)' . Hiki i kēia ke ʻike i ka nalowale ʻana o kahi ʻāpana o ka chromosome ʻehā me ka pololei ma mua o 95%. Hiki ke hana ʻia kēia hoʻāʻo ma mua a ma hope paha o ka hānau ʻana o ka pēpē.

Inā ua hōʻoia ʻia kāu keiki he Wolf-Hirschhorn syndrome, e ʻōlelo paha kāu kauka i nā hoʻokolohua hou aʻe, e like me nā scan, e hoʻoholo pono i nā wahi ʻē aʻe o ke kino i hoʻopilikia ʻia.

Pehea e mālama ʻia ai?

E kaumaha paha ʻoe i ka lohe ʻana i kēia, akā ʻo ka ʻoiaʻiʻo, ʻaʻohe lāʻau i loaʻa e hiki ke ho'ōla loa i ke ʻano o Wolf-Hirschhorn.

Akā, ʻaʻole ia manaʻo ʻaʻohe mea hiki iā mākou ke hana. ʻO ka pahuhopu nui o ka mālama ʻana, ʻo ia ke kāohi i nā hōʻailona o ke keiki a kōkua iā lākou e ola i ke ola maikaʻi loa.

No ka mea, ʻokoʻa kēlā me kēia keiki, e ʻokoʻa ka hoʻolālā lapaʻau mai kekahi keiki a i kekahi. ʻO ka maʻamau, e komo pū kēia hoʻolālā lapaʻau me kēia mau mea:

He hana nui ka mālama ʻana i kēia keiki. Pono ke kōkua o nā poʻe he nui, me nā kauka keiki, nā mea hoʻōla kino, a me nā mea hoʻōla ʻōlelo.