Loaʻa i kāu keiki kēia maʻi laha ʻole? E aʻo kākou e pili ana i ka maʻi Shwachman-Diamond (SDS)

Ke maʻi mau nei kāu keiki liʻiliʻi? ʻAʻole e piʻi ke kaumaha? A i ʻole ke ʻike nei ʻoe i kekahi mau loli i ko lākou mau iwi? I kekahi manawa, hiki ke kumu o kēia ma muli o ka maʻi Shwachman-Diamond (SDS), kahi maʻi genetic kakaʻikahi e hoʻopilikia i nā keiki. E kamaʻilio kākou e pili ana i kēia ma ke ʻano maʻalahi e hiki ai iā ʻoe ke hoʻomaopopo.

He aha ka maʻi Shwachman-Diamond (SDS)?

I ka ʻōlelo maʻalahi, ʻo ka maʻi Shwachman-Diamond (SDS) kahi maʻi genetic laha ʻole e hoʻopilikia nui i ka pancreas, ka iwi iwi, a me nā iwi i nā keiki. Hoʻomaopopo pinepine ʻia ma mua o ka piha ʻana o hoʻokahi makahiki o ke keiki. Eia nō naʻe, hiki ke ʻike ʻia i kekahi manawa i nā pākeke ʻōpio.

He maʻi paʻakikī ka ʻike ʻana a me ka mālama ʻana i ka SDS no ka mea hiki iā ia ke hana i nā ʻano hōʻailona like ʻole. Loaʻa paha i kahi keiki kekahi, kekahi, a i ʻole kēia mau hōʻailona āpau. No ka laʻana, loaʻa paha i kekahi keiki nā pilikia me ka pancreas a me nā iwi, aʻo kekahi keiki ʻē aʻe he pilikia wale nō me ka iwi a me nā iwi.

He maʻi hiki ʻole ke wānana ʻia . Hiki i nā hōʻailona o nā keiki ke akahai a koʻikoʻi paha. Hiki ke loli kēia mau hōʻailona i ka hala ʻana o ka manawa. No ka mea, he nui nā pilikia olakino o nā keiki me SDS, pono nā keiki he nui i ke kōkua o kahi hui o nā loea . ʻOiai e pono ana nā keiki me kēia maʻi i ka mālama olakino no ke ola holoʻokoʻa, hiki iā lākou ke ola maʻamau i kahi ola maʻamau. Eia nō naʻe, hiki i kekahi mau keiki a me nā ʻōpio ke loaʻa i kahi maʻi koko hoʻoweliweli ola (Acute Myeloid Leukemia) a i ʻole kahi maʻi koko koʻikoʻi (Myelodysplasia).

He kūlana maʻamau anei kēia?

He mea paʻakikī ke ʻōlelo maopopo. Manaʻo nā kauka he maʻi laha ʻole ka maʻi Shwachman-Diamond. Akā, he mau kuhi wale nō ia o ka nui o nā keiki i loaʻa i kēia maʻi. Ua kau kekahi mau kuhi i ke kūlana ma hoʻokahi i loko o 75,000 mau hānau ʻana . ʻO ke kumu o kēia kuhi hewa, hiki i nā keiki ke loaʻa nā hōʻailona ʻoluʻolu a koʻikoʻi paha, ʻaʻole like nā hōʻailona o nā keiki a pau, a ʻaʻohe hoʻāʻo hoʻokahi e ʻike ai i ke kūlana.

Loaʻa pū kekahi i nā pākeke ka maʻi Shwachman-Diamond (SDS)?

ʻAʻole e like me kekahi mau pilikia olakino o ka wā kamaliʻi, ʻaʻole e nalowale ka maʻi Shwachman-Diamond i ka wā e ulu ai nā keiki. Hiki ke loli nā hōʻailona a me ka mālama ʻana i ka hala ʻana o ka manawa, akā pono nā keiki me kēia maʻi i ka mālama olakino no ke ola holoʻokoʻa .

Pehea ka hopena o kēia maʻi i ke kino o kaʻu keiki?

Hiki i ka maʻi Shwachman-Diamond ke hana i kekahi mau pilikia olakino, akā aia ʻekolu mau hopena nui:

1. Ka lawa ʻole o ka pancreatic exocrine:ʻO ka pancreas o kāu keiki kahi ʻōkana aia ma hope o ka ʻōpū. Loaʻa iā ia kahi ʻano cell i kapa ʻia ʻo nā cell acinar. Hoʻopuka kēia mau cell i nā enzymes e kōkua i ka hoʻoheheʻe ʻana i ka meaʻai. Hoʻopau kēia mau enzymes i nā meaola a me nā momona i loko o ka meaʻai i hiki i ke kino ke omo iā lākou. I nā keiki me SDS, ʻaʻole lawa ka hana ʻana o ka pancreas i kēia mau enzymes. ʻO ka hopena, ʻaʻole loaʻa i ke keiki nā meaola e pono ai lākou.

2. Hana ʻino o ka iwi iwi: Hoʻopuka ka iwi iwi o kāu keiki i nā hunaola koko ʻulaʻula, nā hunaola koko keʻokeʻo, a me nā platelets. I nā keiki me SDS, ʻoi aku ka liʻiliʻi o kēia mau hunaola e hana ai ka iwi iwi ma mua o ka maʻamau. ʻOi aku ka nui, ʻaʻole ia e hana i kahi ʻano hunaola koko keʻokeʻo i kapa ʻia he neutrophils . ʻO nā neutrophils nā hunaola e pale maʻamau i ke kino mai nā mea komo hewa e like me ka bacteria. ʻAʻole lawa ka neutrophils o kekahi mau keiki me SDS e hakakā i kēia mau mea komo hewa bacteria. Ua kapa ʻia kēia ʻano he neutropenia . Hoʻomohala pinepine nā keiki me neutropenia i nā maʻi bacteria e like me ka pneumonia, nā maʻi pepeiao waena, a i ʻole nā ​​maʻi ʻili.

3. Nā ʻano ʻē o ka iwi: Loaʻa paha i nā keiki me SDS nā kūlana e like me ka scoliosis, ka pōkole ʻana o nā iwi ma nā lima a me nā wāwae (chondrodysplasia), a i ʻole ka umauma ʻano bele haiki ʻē aʻe (thoracic dystrophy).

He aha nā pilikia o ka maʻi Shwachman-Diamond (SDS)?

ʻOi aku ka nui o ka pilikia o ka poʻe me kēia maʻi i ka loaʻa ʻana o nā hunaola koko ʻē (`(myelodysplasia)`) . Hiki i kēia mau mea ke ulu aʻe i loko o kahi maʻi ʻaʻai koko i kapa ʻia ʻo `(acute myeloid leukemia)` .

He aha nā hōʻailona o ka maʻi Shwachman-Diamond (SDS)?

Hiki i kēia maʻi ke hoʻopilikia i kekahi mau ʻāpana o ke kino o ke keiki. Akā ʻo nā hōʻailona maʻamau e pili ana i ka pancreas, ka iwi iwi, a me ka ʻōnaehana iwi. Hiki i kekahi poʻe ke ʻike i nā hōʻailona i ka wā hānau, i ka wā kamaliʻi, a i ʻole ka wā kamaliʻi. Hiki i kekahi poʻe liʻiliʻi ke ʻike i nā hōʻailona i ka wā ʻōpio.

Nā hōʻailona maʻamau:

• ʻAʻole e ulu pono: ʻO ke ʻano kēia ʻaʻole e piʻi ana ke kaumaha o kāu pēpē. I ke ʻano o SDS, ma muli paha kēia o ka ʻai maikaʻi ʻole.
• Luhi: Hiki i kahi pēpē luhi ke huhū a palaualelo.
• Nā ʻōpala nui, ʻaila, a pilau: Hiki i nā ʻōpala o kāu pēpē ke nui loa, ʻaila ke ʻano, a he ʻala pilau.
• Nā maʻi koʻikoʻi e hana hou ʻia: Inā hoʻomau ka maʻi bacteria, he hōʻailona paha ia o SDS.
• Nā loli i ʻike ʻia ma nā iwi o nā lima a me nā wāwae: ʻOi aku ka pōkole o nā lima a me nā wāwae o nā pēpē i hoʻohālikelike ʻia me ko lākou kino.

He aha ke kumu o ka maʻi Shwachman-Diamond (SDS)?

Ma kahi o 90% o nā keiki me SDS he mutation i loko o ka gene `SBDS` . Ua hōʻike ʻia nā noiʻi hiki ke hoʻoilina ʻia kēia mutation mai nā mākua ʻelua (`(autosomal recessive manner)`) a i ʻole mai kekahi makua a loaʻa kahi mutation hou. ʻAʻole maopopo i nā kānaka noiʻi ke kumu o ka mutations i loko o ka gene `SBDS` i ke kumu o ka SDS.

Pehea e ʻike ai nā kauka i kēia maʻi?

E hana nā kauka i kahi hoʻokolohua kino e loiloi i ke olakino holoʻokoʻa o kāu keiki. E ana lākou i ke kiʻekiʻe a me ke kaumaha o kāu keiki a hoʻohālikelike iā lākou i ka wikiwiki o ka ulu ʻana o nā keiki ʻē aʻe i ko lākou mau makahiki. Hiki iā lākou ke hana i kēia mau hoʻokolohua:

• Helu koko piha (CBC) me ka ʻokoʻa: Helu kēia i nā hunaola koko o ke keiki, ʻoiai nā hunaola koko keʻokeʻo āpau.
• Nā hoʻāʻo hana pancreatic: Hiki i nā kauka ke kālailai i nā ʻāpana lepo o kāu keiki a hana paha i nā hoʻokolohua kiʻi e like me ka computed tomography (CT) scans.
• Nā hoʻāʻo koko e nānā i nā pae huaora.
• Nā kukuna X: Hiki ke lawe ʻia nā kukuna X e nānā i nā pilikia o ka iwi, ʻoiai ma nā pūhaka a i ʻole nā ​​​​wāwae o ke keiki.
• Ka hoʻāʻo ʻana i ka genetic: No ka ʻike ʻana i nā hoʻololi genetic e hoʻoulu ai i ka SDS, nānā nā kauka i nā laʻana o ke koko, ka ʻili, ka lauoho, a i ʻole nā ​​​​ʻiʻo o ke keiki e hōʻoia inā loaʻa i ke keiki ke kūlana.

Pehea e mālama ʻia ai kēia maʻi?

Hiki i ka maʻi Shwachman-Diamond ke hoʻopilikia i kāu keiki ma nā ʻano he nui. No ka laʻana, ʻaʻole hiki i ke keiki ke hoʻoheheʻe i ka meaʻai ma muli o nā pilikia me ka pancreas, akā hiki i ko lākou iwi iwi ke hana maʻamau. Hiki i nā hōʻailona ke akahai a koʻikoʻi paha. Hoʻoponopono nā kauka i kēia mau hoʻololi ma muli o ke koʻikoʻi o ke kūlana.

No ka nele o ka hana exocrine pancreatic:

Hiki i nā kauka ke kuhikuhi i nā enzymes pancreatic waha a i ʻole nā ​​​​huaora momona-momona e kōkua i ke kino o kāu keiki e omo i nā meaʻai a me ka momona.

No ka hāʻule ʻana o ka iwi iwi:

Ma muli o ka hoʻopilikia ʻana o kēia maʻi i ka iwi o ke keiki, ʻaʻole lawa ka nui o nā neutrophils i ka iwi. ʻAʻole mālama pinepine nā kauka i nā maʻi iwi ke ʻole he pilikia koʻikoʻi ko ke keiki. Hiki i ka lāʻau lapaʻau ke komo pū me:

• Hoʻoili koko: Hoʻonui i nā pae o nā ʻāpana koko.
• Nā hoʻoili koko platelet: Hoʻonui i nā pae platelet e kōkua i nā pilikia kahe koko.
• ʻO ka Granulocyte-colony stimulating factor (G-CSF) : Hoʻonui kēia lāʻau i ka helu o nā neutrophils i loko o nā keʻokeʻo koko o ke keiki.
• Hoʻoili ʻana i nā pūnaewele kumu: Loaʻa i kekahi poʻe me SDS nā maʻi ʻaʻai koko a i ʻole nā ​​maʻi koko koʻikoʻi. Hiki i nā kauka ke mālama i kēia mau kūlana me ka hoʻoili ʻana i nā pūnaewele kumu.

No nā maʻi ʻōnaehana iwi:

Nānā pinepine nā kauka i nā pilikia iwi i hoʻokumu ʻia e SDS. Pono paha kekahi mau keiki i ke ʻoki kino inā loaʻa iā lākou nā pilikia koʻikoʻi.

ʻO wai nā loea lapaʻau e mālama nei i kēia maʻi?

Pono kahi hui o nā loea e mālama i ka maʻi Shwachman-Diamond. Hiki i ka hui lapaʻau o kāu keiki ke komo pū me:

• Nā Kauka Lapaʻau: Hoʻōla kēia mau kauka i nā pēpē hānau hou, nā keiki, a me nā ʻōpio. E ʻōlelo paha ke kauka lapaʻau o kāu keiki i nā hoʻokolohua e hōʻoia inā loaʻa ka SDS.
• Endocrinologists: ʻO kēia ka poʻe i loaʻa ka ʻike loea i ka ʻōnaehana endocrine, kahi e hoʻopilikia ai i ka ulu ʻana o ke keiki.
• Hematologists: ʻO kēia ka poʻe loea i nā maʻi koko, me nā maʻi e hoʻopilikia i nā hunaola koko o ke keiki.
• Nā Gastroenterologists: Hiki i kēia mau kauka ke kōkua i ka mālama ʻana i nā pilikia o ka ʻōnaehana hoʻoheheʻe o kāu keiki.
• Nā mea loea i ka hoʻoilina: He maʻi hoʻoilina ka maʻi Shwachman-Diamond. E hoʻonohonoho kēia mau kauka, a i ʻole nā ​​kākāʻōlelo hoʻoilina, i nā hoʻāʻo hoʻoilina e hōʻoia i ke kūlana o kāu keiki. Hiki iā lākou ke hoʻāʻo iā ʻoe a me kekahi o nā hoahānau koko o kāu keiki.
• Nā loea Orthopedic: Inā he pilikia iwi kāu keiki e pono ai ke ʻoki ʻana, pono ʻoe e ʻike i kahi loea orthopedic.

Hiki iaʻu ke pale aku i kēia?

He maʻi hoʻoilina ka maʻi Shwachman-Diamond. Inā ʻike ʻoe he maʻi kou, he manaʻo maikaʻi e kamaʻilio me kahi loea genetic. Inā he mau keiki kāu me ke ʻano, makemake paha ʻoe e noʻonoʻo i ka hoʻāʻo genetic e ʻike inā loaʻa i kāu mau keiki ka hoʻololi ʻana o ka gene e hoʻoulu ai i ka SDS.

Hiki ke ho'ōla loa ʻia ka maʻi Shwachman-Diamond (SDS)?

ʻAʻole hiki i nā kauka ke ho'ōla loa i kēia maʻi. Inā loaʻa kēia maʻi i kāu keiki, pono ʻo ia i ka mālama olakino no ke koena o kona ola.

He aha ke ʻano o ka noho ʻana me ka maʻi Shwachman-Diamond (SDS)?

Ma kekahi ʻano, he maʻi mau ka maʻi Shwachman-Diamond. Inā loaʻa kēia maʻi i kāu keiki, pono ʻo ia i nā hoʻokolohua a me nā nānā mau ʻana.

• Helu koko piha (CBC) a me ka helu koko keʻokeʻo, helu platelet: Hiki i nā kauka ke hana i kēia mau hoʻokolohua i kēlā me kēia ʻekolu a ʻeono mahina.
• Nā hoʻokolohua iwi iwi: Hiki i nā Hematologists ke hana i kēia mau hoʻokolohua i hoʻokahi manawa i ka makahiki a i hoʻokahi manawa i kēlā me kēia ʻekolu makahiki.
• Nā hoʻāʻo koko no nā huaora: Hiki i nā kauka ke ana i ka nui o nā huaora i loko o ke koko o ke keiki e ʻike ai inā e hana ana ka lāʻau lapaʻau enzyme pancreatic.
• ʻO ka densitometry iwi: Hiki i nā kauka ke hoʻāʻo i ka nui o ka iwi ma mua a i ka wā ʻōpio.
• Nā kukuna X: Hiki ke hana ʻia nā kukuna X e nānā i nā pilikia me nā pūhaka a me nā kuli o kāu keiki, ʻoiai i nā wā o ka ulu wikiwiki.
• Loiloi hoʻomohala: Loaʻa paha i kekahi mau keiki me SDS nā pilikia hoʻomohala, e like me ka maʻi hemahema o ka nānā ʻana (ADD). Hiki i nā kauka ke loiloi i ka hoʻomohala ʻana i kēlā me kēia ʻeono mahina mai ka hānau ʻana a hiki i ka makahiki 6, a me ka ulu ʻana i kēlā me kēia ʻeono mahina.
• Ka hoʻāʻo ʻana a me ka loiloi Neuropsychological: Hiki i ka SDS ke alakaʻi i nā kūlana e like me ka maʻi hemahema o ka nānā ʻana (ADD) a i ʻole ka maʻi hoʻomohala pervasive (PDD). Hiki i nā kauka ke ʻōlelo i nā loiloi maʻamau i nā makahiki 6-8, 11-13, a me 15-17.

Pehea e hiki ai iaʻu ke kōkua i kaʻu keiki e hoʻoponopono i kēia pilikia?

Hiki i nā keiki me kēia maʻi ke loaʻa i nā ʻano pilikia olakino like ʻole. Pono paha lākou i nā lāʻau lapaʻau e kōkua iā lākou e omo i nā meaʻai a me nā momona. ʻOi aku ka nui o ko lākou loaʻa ʻana i nā maʻi. Loaʻa paha iā lākou nā ʻano ʻē o ka iwi e hoʻokaʻawale ai iā lākou mai nā poʻe ʻē aʻe.

ʻOiai nā hōʻailona, ​​​​​​hiki i nā keiki me kēia maʻi ke loaʻa kahi hopohopo like - he ʻokoʻa lākou mai nā poʻe ʻē aʻe . Pono paha lākou i ka lāʻau lapaʻau e hoʻokaʻawale iā lākou mai ke kula a me nā hana ʻē aʻe. Hiki ke loli ko lākou helehelena. I ka ulu ʻana o kāu keiki, hiki i kēia mau loli ke hoʻonāukiuki a hoʻonāukiuki iā lākou. ʻO ka hoʻomaopopo ʻana i kēia mau manaʻo ke kōkua i kāu keiki e hoʻokele i ko lākou mau manaʻo. Hiki i kekahi mau keiki ke pōmaikaʻi mai ke kamaʻilio ʻana me kahi loea olakino noʻonoʻo. Inā ʻoe e hopohopo nei e pili ana i ke ʻano o kāu keiki e kū nei i ko lākou kūlana, e noi i kāu kauka no nā ʻōlelo aʻoaʻo.

Āhea wau e ʻike ai i ke kauka?

Inā loaʻa i kāu keiki ka maʻi Shwachman-Diamond, pono ʻoe e hoʻāʻo e makaʻala i nā loli i ke kino o kāu keiki . Hoʻololi pinepine nā hōʻailona o SDS i ka hala ʻana o ka manawa. I kekahi mau hihia, hiki i kēia mau loli ke lilo i mau hōʻailona o nā pilikia koʻikoʻi, me ke kanesa koko.

Ke loli mau nei ke kino o nā keiki i ko lākou hele ʻana i ka wā kamaliʻi, ka wā kamaliʻi, ka wā ʻōpio (ʻoi aku hoʻi ka wā ʻōpio a me ka wā ʻōpiopio), a me ka wā makua ʻōpio. ʻAʻole kēia mau loli he hōʻailona mau ia o kahi maʻi hou a i ʻole kahi maʻi ʻoi aku ka koʻikoʻi.

Loaʻa i kāu keiki nā manawa kipa kauka maʻamau.ʻO kēlā mau hālāwai maʻamau ka manawa kūpono loa iā ʻoe e nīnau ai e pili ana i nā loli i hiki ke lilo i mau hōʻailona o kahi pilikia koʻikoʻi.

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

He maʻi laha ʻole ka maʻi Shwachman-Diamond. ʻAʻole paha ʻoe e ʻike ua loaʻa iā ʻoe. Eia kekahi mau nīnau hiki iā ʻoe ke nīnau i kāu kauka:

• No ke aha i loaʻa ai kēia maʻi i kaʻu keiki?
• He ʻano maʻalahi anei kēia ʻano maʻi iā ia a he ʻano koʻikoʻi paha?
• Pehea ka hopena o kēia maʻi i kaʻu keiki?
• He aha nā lāʻau lapaʻau?
• E ʻoi aku ka ʻino o nā hōʻailona o kaʻu keiki?
• Pono anei e hoʻāʻo ʻia nā kaikaina ʻē aʻe o kaʻu keiki no ka genetics?
• Pono anei au a me ka makua maoli ʻē aʻe o ke keiki e hana i ka hoʻāʻo genetic?
• Pehea e hiki ai iaʻu ke kōkua i kaʻu keiki e hoʻokele i ka lāʻau lapaʻau?

ʻO ka mea hope loa, ʻo ka mea nui loa (Leka Lawe-Home)

He maʻi laha ʻole ka maʻi Shwachman-Diamond, he maʻi hoʻoilina e hoʻopilikia ana i ka ulu ʻana o nā keiki, ka maʻalahi i nā maʻi bacteria, a me nā ʻano ʻē o ka iwi. ʻOiai he mau hōʻailona iki ko kekahi mau keiki, pono nā keiki āpau me ke ʻano i ka mālama olakino no ke ola holoʻokoʻa. Inā loaʻa i kāu keiki ka maʻi Shwachman-Diamond, hiki iā ʻoe ke hopohopo no ka maopopo ʻole o ka mea e hiki mai ana. Inā ʻoe i loko o kēia kūlana, e kaʻana like i kou hopohopo me nā kauka o kāu keiki. Hoʻomaopopo lākou i ke ʻano o ka hopohopo a me ka mālama ʻana i kahi keiki me kahi maʻi koʻikoʻi, i kekahi manawa i manaʻo ʻole ʻia. Hiki iā lākou ke kōkua i kāu keiki ʻaʻole wale e kū i ka maʻi, akā kōkua pū iā lākou e ola maikaʻi. A hauʻoli lākou e kōkua iā ʻoe e kōkua i kāu keiki. Mai manaʻo mehameha, a e noi i ke kōkua.

ʻO ka maʻi Shwachman-Diamond, SDS, nā ʻano ʻē o ka genetic, pancreas, iwi ʻiʻo, nā ʻano ʻē o ka iwi, nā maʻi pediatric, neutropenia