Loaʻa i kāu keiki liʻiliʻi kēia mau hōʻailona? E kamaʻilio kākou e pili ana i ka Prader-Willi Syndrome

Ua loaʻa paha iā ʻoe kekahi mau hopohopo e pili ana i ka ulu ʻana a me ka ulu ʻana o kāu pēpē, a i ʻole pehea ʻo ia e ʻai ai a inu ai. Pono kekahi mau pēpē i kahi mālama kūikawā. I kēia lā, e kamaʻilio mākou e pili ana i kahi maʻi kakaʻikahi akā koʻikoʻi e pono ʻoe e ʻike.

He aha ka Prader-Willi Syndrome?

I ka ʻōlelo maʻalahi, ʻo Prader-Willi Syndrome (PWS) kahi maʻi genetic kakaikahi e hoʻopilikia ai i ka metabolism o ke keiki. Hiki iā ia ke hoʻololi i ka ulu ʻana a me ke ʻano o ke keiki.

He ʻuʻuku loa ke ʻano o nā ʻiʻo o ke keiki me kēia maʻi (hypotonia). ʻO ke ʻano kēia, hiki i ke kino ke manaʻo he nāwaliwali loa. He mea paʻakikī paha ke omo a me ka ʻai ʻana i ka meaʻai i ka wā mua. Eia nō naʻe, ma waena o nā makahiki ʻelua a me ʻeono, hoʻomaka ka ulu ʻana o kahi makemake ʻē aʻe, a i ʻole ka pōloli mau (hyperphagia). Inā ʻaʻole i kāohi pono ʻia ka meaʻai, hiki i kēia ʻai nui ke alakaʻi i ke keiki e lilo i mea nui loa, a i ʻole ka momona nui.

Eia kekahi, hiki i ka PWS ke hoʻopilikia i kahi keiki i nā pae hoʻomohala maʻamau a hoʻopaneʻe i ka wā ʻōpio. I kekahi manawa, hiki ke loaʻa nā pilikia e hoʻoweliweli ana i ke ola, e like me nā pilikia hanu, nā pilikia cardiovascular i hoʻokumu ʻia e ka momona, ka apnea hiamoe, a me ka maʻi diabetes.

ʻO wai ka mea i hoʻopilikia nui ʻia e kēia kūlana?

ʻOiaʻiʻo, hiki ke loaʻa kēia maʻi i kapa ʻia ʻo Prader-Willi syndrome i kekahi. No ka mea he genetic ia, hiki pinepine ia i ka manawa kūpono ʻole, ʻo ia hoʻi, hiki ke loaʻa me ke kumu ʻole i ka wā e hoʻokumu ʻia ai nā cell germ. He mea kākaʻikahi loa, hiki ke hoʻoilina ʻia inā ua loaʻa i kekahi o ka ʻohana kēia maʻi ma mua.

Pehea ka maʻamau o ka Prader-Willi Syndrome?

He maʻi laha ʻole kēia. Inā ʻoe e nānā a puni ka honua, he hoʻokahi ia i loko o 10,000 a hoʻokahi i loko o 30,000 pēpē. No laila, hiki iā ʻoe ke noʻonoʻo i ka laha ʻole o kēia.

He aha nā hōʻailona o ka Prader-Willi Syndrome?

Hiki ke ʻokoʻa ke ʻano o ka hoʻopilikia ʻana o PWS i kēlā me kēia kanaka, akā aia kekahi mau hōʻailona maʻamau.

Nā hōʻailona i ʻike ʻia i ka wā hānau keiki:

Hiki ke ʻike ʻia kekahi o kēia mau hōʻailona i ka wā e hānau ai ke pēpē:

• Uē nāwaliwali .
• Ka luhi mau a me ka palaualelo.
• Paʻakikī i ka omo ʻana a me ka ʻai ʻana (Hiki ʻole ke hānai ʻana).
• He kino palupalu , a i ʻole ka nele o ke kani o nā ʻiʻo (`hypotonia`). Manaʻo paha ia e like me kou kino e kulou ana e like me ka pēpē.

Nā ʻano kino e ʻike ʻia i ka wā e ulu ana ke keiki:

Loaʻa kēia mau ʻano i kekahi manawa i ka wā hānau, akā e ʻike nui ʻia i ka wā e ulu aʻe ai ke keiki:

• Nā maka ʻano ʻalemona.
• He poʻo lōʻihi a wīkiwiki.
• He waha huinakolu.
• ʻOi aku ka pōkole ma mua o nā keiki ʻē aʻe (pōkole ke kiʻekiʻe).
• Nā lima a me nā wāwae liʻiliʻi.
• Nā ʻōpū wahine i ulu pono ʻole.

Nā ʻano e hoʻopilikia ai i ka ulu ʻana a me ke ʻano o ke keiki:

ʻO kēia nā ʻano a nā mākua e manaʻo nui ai i kekahi manawa, a hiki ke lilo i mea paʻakikī iki:

• Ka huhū nui, ka pahū ʻana o ka naʻau a i ʻole ke kūpaʻa ʻole.
• Ke kīnā noʻonoʻo: ʻO ke ʻano kēia he manawa ka lōʻihi e aʻo a hoʻomaopopo ai i nā mea hou.
• Nā hana hoʻokaumaha a hoʻokaumaha paha e like me ke kohi ʻili .
• Nā maʻi hiamoe. I kekahi manawa hiamoe loa i ke ao, a i ka pō, manaʻo ʻia ʻaʻole hiki iā ʻoe ke hiamoe.
• Nā pilikia ʻai. ʻO kēia ka hōʻailona koʻikoʻi loa. ʻAʻole pili i ka nui o kāu ʻai ʻana, ʻaʻole ʻoe e māʻona. ʻO kēia ke alakaʻi ʻana i ka ʻai nui ʻana (hyperphagia).

E noʻonoʻo i ka paʻakikī inā ʻo kāu keiki, ʻaʻohe mea i ka nui o kāna ʻai ʻana, e ʻōlelo mau ana, "Makemake au i nā mea hou aku, ua pōloli au." Hiki i kēia ʻai nui ke alakaʻi i ka momona papa III, hiki ke hoʻonui i ka pilikia o ka hoʻomohala ʻana i nā pilikia ʻē aʻe, e like me ka maʻi diabetes a me nā maʻi puʻuwai.

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

Hoʻokumu ʻia ka maʻi Prader-Willi e kahi loli i loko o kā mākou mau genes. ʻO ke kikoʻī, ʻaʻole hana pono kekahi mau genes ma ka chromosome 15 i loko o ko mākou kino.

Loaʻa iā kākou a pau hoʻokahi kope o ka chromosome 15 mai ko kākou makuahine i ka wā hāpai, a hoʻokahi kope mai ko kākou makuakāne. ʻO ka maʻamau, ua hoʻāla ʻia nā genes ma ke kope o ka chromosome 15 mai ko kākou makuakāne, ʻo ia hoʻi, "on." ʻO nā genes ma ke kope o ka chromosome 15 mai ko kākou makuahine he "off," ʻo ia hoʻi, he leo ʻole. Kāhea mākou i kēia 'genomic imprinting.' Eia naʻe, pono nā kope ʻelua no ka hana pono ʻana o nā genes i loko o ko kākou kino.

I kēia manawa, hiki ke hana ʻia ke kūlana `PWS` e kekahi mau loli i loko o kēia chromosome 15:

• Ka holoi ʻana i nā Chromosomal : Ma kahi o 70% o nā maʻi PWS, ua nalowale kekahi hapa o nā chromosomes 15 i hoʻoilina ʻia mai ka makuakāne i kēlā me kēia cell. No laila, kū mai nā hōʻailona no ka mea ʻaʻole hana pono nā genes mai ka makuakāne a ua noho mālie nā genes mai ka makuahine.
• ʻO ka maʻi maʻi makua ʻole: Ma kahi o 25% o ka manawa, loaʻa i ke keiki ʻelua kope o ka chromosome 15 mai ko lākou makuahine a ʻaʻohe mai ko lākou makuakāne. I kēia hihia, ua noho mālie nā kope ʻelua o ka chromosome 15, no laila ʻaʻole hana pono nā genes.
• Ke hoʻololi ʻana: Ma lalo o 1% o nā hihia, haki kahi ʻāpana o ka chromosome 15 a hoʻopili i kahi chromosome ʻē aʻe. A laila, ʻaʻole i kahi kūpono nā genes, no laila ʻaʻole lākou e hana i ka hana a lākou e pono ai.

I ka ʻōlelo maʻalahi, ʻo kēia chromosome 15 ka mea e hāʻawi i nā kuhikuhi e hana i nā mea i kapa ʻia ʻo 'small nucleolar RNAs (snoRNAs)' e kōkua i kā mākou mau cell e hana i nā mea like ʻole. Hoʻomalu kēia mau 'snoRNAs' i nā molekala 'RNA' ʻē aʻe. Hana nā molekala 'RNA' i nā protein, a hana kēlā mau protein i ka nui o ka hana i loko o nā cell. No laila, i ka wā e loaʻa ai kahi pilikia me ka chromosome 15, hele hewa kēia kaʻina holoʻokoʻa.

Pehea e ʻike ai nā kauka i kēia? (Diagnosis)

Hoʻoholo ke kauka i ka maʻi Prader-Willi ma ka nānā pono ʻana i ke keiki a me ka hana ʻana i nā hoʻokolohua genetic. E nānā ke kauka i nā ʻano kino o ke keiki a nīnau iā ʻoe e pili ana i nā hōʻailona o kāu keiki, nā ʻano ʻai, a me ke ʻano.

Inā he kānalua no ka PWS, e kauoha ʻia kahi hoʻāʻo genetic . He hoʻāʻo koko kēia maʻamau. Hiki i kēia ke hoʻoholo pololei inā he mau mea ʻē i loko o ka DNA o ke keiki, ʻo ia hoʻi, nā loli i loko o nā genes.

He aha nā lāʻau lapaʻau no kēia?

I ka mālama ʻana i ka maʻi Prader-Willi, ʻo ke kumu nui ka kaohi ʻana i nā hōʻailona a me ka pale ʻana i nā pilikia. ʻAʻohe lāʻau hoʻokahi no kēia, akā hoʻohana ʻia ka hui pū ʻana o nā lāʻau.

Nā ʻano lapaʻau:

• No nā pēpē liʻiliʻi, hiki iā ʻoe ke hoʻohana i nā mea hana kūikawā e like me nā ʻūpā ʻōmole kūikawā e kōkua iā lākou e inu waiū . No ka mea he paʻakikī iā lākou ke omo, pono lākou e loaʻa i ka meaʻai e pono ai.
• ʻO ka mea nui loa, ʻo ia ke kōkua i kāu keiki e ʻai pono . ʻO ia hoʻi ka hānai ʻana iā lākou i nā meaʻai haʻahaʻa-calorie a me ka kaohi ʻana i ka nui o kā lākou ʻai ʻana. Hiki ke lilo i mea paʻakikī iki kēia, no ka mea, e pōloli pinepine ana kāu keiki.
• Hāʻawi ʻia nā lāʻau lapaʻau e hoʻonui i kekahi mau hormones . Eia kekahi laʻana, ka hormone ulu. No nā keikikāne, hiki ke hāʻawi ʻia ka testosterone a i ʻole ka human chorionic gonadotropin (HCG), a no nā kaikamahine, ka estrogen.
• He mea nui loa nā hoʻōla kākoʻo . Kōkua ka hoʻōla kino i ka hoʻoikaika ʻana i nā ʻiʻo, kōkua ka hoʻōla ʻōlelo-ʻōlelo i ka hoʻomaikaʻi ʻana i ka ʻōlelo, a kōkua ka hoʻonaʻauao kūikawā i ka hoʻomaikaʻi ʻana i nā hiki ke aʻo o ke keiki.

He aha nā hopena ʻaoʻao o ka Prader-Willi Syndrome?

I ka manawa pinepine, lilo nā keiki me kēia maʻi i ka momona ma muli o ka ʻai nui ʻana. Hiki i kēia momona ke alakaʻi i nā pilikia ʻē aʻe:

• Nā pilikia o ka puʻuwai.
• Maʻi diabetes (Maʻi diabetes ʻAno 2).
• Ke koko kiʻekiʻe (Hypertension).
• Nā pilikia hanu.
• ʻAneʻane hiamoe.

ʻOiai he maʻi paʻakikī ka momona, hiki ke mālama ʻia. E hiki i ke kauka o kāu keiki ke hāʻawi iā ʻoe i ke alakaʻi maikaʻi no kēia.

Hiki iā kākou ke pale aku i kēia?

ʻO ka mea pōʻino, ʻaʻole hiki ke pale ʻia ka maʻi Prader-Willi. He mea hoʻoilina ia. ʻO ka hapa nui o ka manawa, ua hoʻokumu ʻia e kahi hoʻololi hoʻoilina maʻamau. He mea hiki ʻole ke wānana ʻia. ʻAʻole ia i hoʻokumu ʻia e kekahi mea a nā mākua i hana ai ma mua a i ka wā hāpai paha.

Inā ʻoe e hoʻolālā ana e loaʻa hou kahi keiki, a inā makemake ʻoe e aʻo hou e pili ana i kēia, he manaʻo maikaʻi ke kiʻi i ka ʻōlelo aʻoaʻo genetic. A laila, hiki iā ʻoe ke kamaʻilio e pili ana i ka pilikia o ka loaʻa ʻana o kahi keiki me kēia maʻi genetic.

Inā loaʻa i kaʻu keiki ʻo Prader-Willi Syndrome, he aha kaʻu e manaʻo ai?

Hiki paha i kēia ke hoʻomāʻehaʻeha a hoʻopūʻiwa iā ʻoe. He mea maʻamau kēlā. Eia nō naʻe, me ka mālama pono ʻana mai ka hoʻomaka ʻana a me ka mālama maikaʻi mau ʻana , hiki i ka hapa nui o nā keiki me ka maʻi Prader-Willi ke ola i kahi ola maʻamau.

He mea maʻamau ka pono o ke kōkua hou aku me nā hana kula. Pono nā keiki āpau me PWS i ke kākoʻo i ko lākou ola a pau e ola kūʻokoʻa e like me ka hiki. Hiki i kāu kauka ke kuhikuhi iā ʻoe i kahi meaʻai meaʻai. Hiki iā lākou ke kōkua iā ʻoe e hoʻokele i ka ʻai a kāu keiki a hana i kahi hoʻolālā ʻai. He mea kōkua nō hoʻi i nā mākua a me nā ʻohana ke ʻike i kahi kākāʻōlelo olakino noʻonoʻo a i ʻole e hui pū me kahi hui kākoʻo no nā ʻohana me nā keiki me kēia maʻi. Hiki i kēia ke kōkua iā ʻoe e aʻo i nā ala hou e hoʻoponopono ai a kākoʻo i kāu keiki.

Aia kekahi lāʻau lapaʻau piha no kēia?

ʻAʻole, ʻaʻohe lāʻau lapaʻau no ka maʻi Prader-Willi i kēia manawa . Eia nō naʻe, ke hoʻomau nei ka noiʻi e hoʻomaopopo hou aku i ke ʻano.

I ka manawa hea e pono ai iaʻu ke ʻike i ke kauka?

Inā manaʻo ʻoe he mau hōʻailona kāu keiki o ka maʻi Prader-Willi, e ʻike koke i ke kauka o kāu keiki . Mai hoʻowahāwahā i nā lohi o ka ulu ʻana (nā hanana ulu i hala ʻole) i ka wā kamaliʻi. Inā ʻike mua ʻia ke ʻano, hiki i kāu kauka ke kōkua i ka mālama ʻana i ke ʻano o kāu keiki, kōkua iā lākou e hōʻea i nā hanana ulu, a hōʻemi i nā pilikia ma ka kaohi ʻana i kā lākou ʻai.

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

Ke hele ʻoe e ʻike i ke kauka, he mea maikaʻi ke nīnau i nā nīnau e like me kēia:

• Pehea e hiki ai iaʻu ke kōkua i ka pale ʻana i kaʻu keiki mai ka momona?
• He aha nā mea e komo pū ana i ka lāʻau lapaʻau a kaʻu keiki?
• He aha nā pilikia pili i ka hana a kaʻu keiki?
• Aia kekahi mau hui kākoʻo e hiki ke kōkua iā mākou e aʻo e pili ana a hoʻoponopono i ka PWS?
• He manaʻo maikaʻi anei ka hana ʻana i ka hoʻāʻo genetic no ke koena o koʻu ʻohana?

He mea maʻamau ke kaumaha ke ʻike ʻoe he maʻi hoʻoilina laha ʻole kāu keiki. Eia nō naʻe, e hāʻawi ka hui lapaʻau o kāu keiki iā ʻoe i ke kākoʻo a me ke alakaʻi āu e pono ai. Hiki i kāu keiki ke lōʻihi ka manawa e hiki ai i nā pae hoʻomohala ma mua o nā keiki ʻē aʻe o ko lākou mau makahiki. Pono nō hoʻi lākou i ka mālama kākoʻo no ke ola holoʻokoʻa e pale aku i nā pilikia. Inā he mau nīnau kāu e pili ana i ka maʻi o kāu keiki a i ʻole pehea e mālama pono ai i kāu keiki, mai kānalua e kamaʻilio me ke kauka o kāu keiki.

Nā mea nui a mākou e hoʻomanaʻo ai (Leka Lawe-Home)

ʻAe, e hōʻuluʻulu kākou i kekahi o nā mea nui a mākou i kamaʻilio ai i kēia lā e pili ana i ka Prader-Willi Syndrome:

• He maʻi hoʻoilina laha ʻole kēia, ʻo ia hoʻi, ʻaʻole ia ma muli o ka hewa o nā mākua.
• Hiki ke ʻike ʻia kekahi mau hōʻailona i ka wā kamaliʻi , e like me ka palaualelo a me ka paʻakikī i ka hānai waiū.
• ʻO ka pōloli mau a me ka ʻai nui ʻana nā hōʻailona koʻikoʻi o kēia maʻi, hiki ke alakaʻi i ka momona.
• Hiki i kēia ke hoʻopilikia i ka ulu ʻana o ke keiki, kāna hana, a me ke aʻo ʻana.
• ʻOiai ʻaʻohe lāʻau lapaʻau, aia nā lāʻau lapaʻau e hiki ke kōkua i ka kaohi ʻana i nā hōʻailona a alakaʻi i kahi ola maikaʻi aʻe. He mea nui loa ka ʻike mua ʻana i ka maʻi a hoʻomaka i ka lāʻau lapaʻau.
• He mea nui loa ke kākoʻo no nā mākua a me ka ʻohana. Hiki iā ʻoe ke loaʻa ke kōkua mai nā kauka, nā meaʻai, nā mea hoʻōla, a me nā hui kākoʻo.

Manaʻolana wau he mea kōkua kēia ʻike iā ʻoe. Inā he mau hopohopo kāu e pili ana i kāu keiki, mai kānalua e ʻimi i ke kōkua lapaʻau.

ʻO ka maʻi Prader-Willi, PWS, nā maʻi genetic, ke olakino o nā keiki, ke kaumaha nui, ka ʻai, ka lohi o ka ulu ʻana